View all variants affecting transcripts

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AscendingGene     

Name     

Transcript     

NCBI Protein ID     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     

Effect     

DNA change (cDNA)     

Protein     

GVS function     

Splice distance     

Position     

Location     

Exon     

PolyPhen     

RNA change     

SIFT     
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 MSCV_0001186 rs138119149 - ; clinVar; 25058219;21549344 - - - +/+ c.1774C>T p.(Arg592Trp) missense_variant - - - 13/22 possibly_damaging(0.806) r.(?) deleterious(0)
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; - - - - ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 MSCV_0001188 rs387907061 - ; clinVar; 21549344;24808023 - - - +/+ c.464T>G p.(Leu155Arg) missense_variant - - - 3/22 probably_damaging(1) r.(?) deleterious(0)
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270547C>T - - - AARS2_000009 MSCV_0021683 - - ; clinvar; - - - - ./. c.2356G>A p.(Ala786Thr) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272249G>A - - - AARS2_000003 MSCV_0001186 - - ; clinvar; - - - - ./. c.1774C>T p.(Arg592Trp) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272474G>A - - - AARS2_000006 MSCV_0021685 - - ; clinvar; - - - - ./. c.1660C>T p.(Arg554Cys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272809G>A - - - AARS2_000007 MSCV_0021686 - - ; clinvar; - - - - ./. c.1561C>T p.(Arg521*) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272836C>G - - - AARS2_000008 MSCV_0021687 - - ; clinvar; - - - - ./. c.1534G>C p.(Asp512His) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44275041G>A - - - AARS2_000005 MSCV_0021688 - - ; clinvar; - - - - ./. c.985C>T p.(Arg329Cys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; clinvar; - - - - ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44279244A>C - - - AARS2_000002 MSCV_0001188 - - ; clinvar; - - - - ./. c.464T>G p.(Leu155Arg) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 MSCV_0001186 rs138119149 - ; clinVar; 25058219;21549344 - - - +/+ c.1483C>T p.(Arg495Trp) missense_variant - - - 11/20 - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; - - - - ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 MSCV_0001188 rs387907061 - ; clinVar; 21549344;24808023 - - - +/+ c.464T>G p.(Leu155Arg) missense_variant - - - 3/22 probably_damaging(1) r.(?) deleterious(0)
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44270547C>T - - - AARS2_000009 MSCV_0021683 - - ; clinvar; - - - - ./. c.2065G>A p.(Ala689Thr) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44272249G>A - - - AARS2_000003 MSCV_0001186 - - ; clinvar; - - - - ./. c.1483C>T p.(Arg495Trp) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44272474G>A - - - AARS2_000006 MSCV_0021685 - - ; clinvar; - - - - ./. c.1369C>T p.(Arg457Cys) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44272809G>A - - - AARS2_000007 MSCV_0021686 - - ; clinvar; - - - - ./. c.1270C>T p.(Arg424*) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44272836C>G - - - AARS2_000008 MSCV_0021687 - - ; clinvar; - - - - ./. c.1243G>C p.(Asp415His) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44275041G>A - - - AARS2_000005 MSCV_0021688 - - ; clinvar; - - - - ./. c.750-273C>T p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; clinvar; - - - - ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44279244A>C - - - AARS2_000002 MSCV_0001188 - - ; clinvar; - - - - ./. c.464T>G p.(Leu155Arg) - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 MSCV_0001186 rs138119149 - ; clinVar; 25058219;21549344 - - - +/+ n.1808C>T - - - - - - - - -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; - - - - ./. n.681_682insG - - - - - - - - -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 MSCV_0001188 rs387907061 - ; clinVar; 21549344;24808023 - - - +/+ n.498T>G - - - - - - - - -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44270547C>T - - - AARS2_000009 MSCV_0021683 - - ; clinvar; - - - - ./. n.2280G>A - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44272249G>A - - - AARS2_000003 MSCV_0001186 - - ; clinvar; - - - - ./. n.1808C>T - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44272474G>A - - - AARS2_000006 MSCV_0021685 - - ; clinvar; - - - - ./. n.1694C>T - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44272809G>A - - - AARS2_000007 MSCV_0021686 - - ; clinvar; - - - - ./. n.1595C>T - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44272836C>G - - - AARS2_000008 MSCV_0021687 - - ; clinvar; - - - - ./. n.1568G>C - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44275041G>A - - - AARS2_000005 MSCV_0021688 - - ; clinvar; - - - - ./. n.1019C>T - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; clinvar; - - - - ./. n.681_682insG - - - - - - - r.(?) -
AARS2 transcript variant X2 XR_241907.1 - 6 Unknown - g.44279244A>C - - - AARS2_000002 MSCV_0001188 - - ; clinvar; - - - - ./. n.498T>G - - - - - - - r.(?) -
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 11 Unknown - g.17417462G>A - - - ABCC8_000001 MSCV_0000283 - - ; clinvar; - - - - ./. c.4135C>T p.(Arg1379Cys) - - - - - - r.(?) -
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 11 Unknown - g.17452434G>C - - - ABCC8_000003 MSCV_0000285 - - ; clinvar; - - - - ./. c.1744C>G p.(Leu582Val) - - - - - - r.(?) -
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 11 Unknown - g.17482222C>T - - - ABCC8_000004 MSCV_0016391 - - ; clinvar; - - - - ./. c.824G>A p.(Arg275Gln) - - - - - - r.(?) -
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 11 Unknown subst g.17417462G>A - 5.060 - ABCC8_000001 MSCV_0000283 rs137852673 - ; clinvar; 18025464;16885549 - - - +?/+? c.4135C>T p.(Arg1379Cys) missense_variant - - - 34/39 probably_damaging(1) r.(?) deleterious(0)
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 11 Unknown subst g.17417462G>T - 5.060 - ABCC8_000002 MSCV_0000284 rs137852673 - ; clinvar; 18025464;16885549 - - - +?/+? c.4135C>A p.(Arg1379Ser) missense_variant - - - 34/39 probably_damaging(1) r.(?) deleterious(0)
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 11 Unknown subst g.17452434G>C - 5.460 - ABCC8_000003 MSCV_0000285 rs137852674 - ; clinVar; Ensembl; 16885549 - - - +/+ c.1744C>G p.(Leu582Val) missense_variant - - - 12/39 possibly_damaging(0.842) r.(?) tolerated(0.08)
ABCC9 transcript variant SUR2A NM_005691.2 NP_005682.2 12 Unknown subst g.21954091C>T - 4.880 - ABCC9_000001 MSCV_0002194 rs121909304 - ; clinvar; 15034580 - - - +/+ c.*4017G>A p.(=) - - - - - - r.(=) -
ABCC9 transcript variant SUR2A NM_005691.2 NP_005682.2 12 Unknown subst g.22005422G>A - 1.470 - ABCC9_000002 MSCV_0002195 rs144537241 - ; clinvar; 20474083 - - - -?/-? c.2523C>T p.(=) synonymous_variant - - - 21/38 - r.(=) -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128627855C>T - - - ACAD9_000014 MSCV_0020480 - - ; clinvar; - - - - ./. c.1398C>T p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128627872G>A - - - ACAD9_000015 MSCV_0020481 - - ; clinvar; - - - - ./. c.1415G>A p.(Arg472Gln) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128627887G>A - - - ACAD9_000016 MSCV_0020482 - - ; clinvar; - - - - ./. c.1430G>A p.(Arg477Gln) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128627931C>T - - - ACAD9_000017 MSCV_0020483 - - ; clinvar; - - - - ./. c.1474C>T p.(Pro492Ser) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128627933C>T - - - ACAD9_000018 MSCV_0020484 - - ; clinvar; - - - - ./. c.1476C>T p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628197A>G - - - ACAD9_000019 MSCV_0020485 - - ; clinvar; - - - - ./. c.1496A>G p.(Asn499Ser) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628253C>T - - - ACAD9_000020 MSCV_0020486 - - ; clinvar; - - - - ./. c.1552C>T p.(Arg518Cys) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628858_128628869del - - - ACAD9_000021 MSCV_0020487 - - ; clinvar; - - - - ./. c.1564-6_1569del p.? - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628894C>T - - - ACAD9_000004 MSCV_0000956 - - ; clinvar; - - - - ./. c.1594C>T p.(Arg532Trp) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628895G>A - - - ACAD9_000022 MSCV_0020489 - - ; clinvar; - - - - ./. c.1595G>A p.(Arg532Gln) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628950C>G - - - ACAD9_000023 MSCV_0020490 - - ; clinvar; - - - - ./. c.1650C>G p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628975C>A - - - ACAD9_000024 MSCV_0020491 - - ; clinvar; - - - - ./. c.1675C>A p.(Arg559Ser) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128628987C>G - - - ACAD9_000025 MSCV_0020492 - - ; clinvar; - - - - ./. c.1687C>G p.(His563Asp) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128629669T>C - - - ACAD9_000026 MSCV_0020493 - - ; clinvar; - - - - ./. c.1765+13T>C p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631430C>T - - - ACAD9_000027 MSCV_0020494 - - ; clinvar; - - - - ./. c.1846C>T p.(Pro616Ser) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631476C>T - - - ACAD9_000028 MSCV_0020495 - - ; clinvar; - - - - ./. c.*26C>T p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631481G>A - - - ACAD9_000029 MSCV_0020496 - - ; clinvar; - - - - ./. c.*31G>A p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631518C>T - - - ACAD9_000030 MSCV_0020497 - - ; clinvar; - - - - ./. c.*68C>T p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631542A>C - - - ACAD9_000031 MSCV_0020498 - - ; clinvar; - - - - ./. c.*92A>C p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631673_128631674del - - - ACAD9_000039 MSCV_0020499 - - ; clinvar; - - - - ./. c.*223_*224del p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631781T>G - - - ACAD9_000040 MSCV_0020500 - - ; clinvar; - - - - ./. c.*331T>G p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128631954G>A - - - ACAD9_000041 MSCV_0020501 - - ; clinvar; - - - - ./. c.*504G>A p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown ins g.128598490_128598491insTAAG - - - ACAD9_000006 MSCV_0000949 rs387906242 - ; clinVar; 17564966 - - - +?/+? c.-45_-44insTAAG p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown ins g.128598494_128598495insTAAG - - - ACAD9_000007 MSCV_0000950 - - ; - - - - ?/? c.-41_-40insTAAG p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown subst g.128598664T>A - 5.610 - ACAD9_000008 MSCV_0000951 rs387907041 - ; clinVar; 21057504 - - - +/+ c.130T>A p.(Phe44Ile) missense_variant,NMD_transcript_variant - - - 1/7 probably_damaging(0.91) - tolerated(0.08)
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown subst g.128618293G>A - 5.320 - ACAD9_000005 MSCV_0000952 rs387907042 - ; clinVar; 21057504 - - - +/+ c.797G>A p.(Arg266Gln) missense_variant - - - 7/18 probably_damaging(0.942) - deleterious(0.01)
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown subst g.128622922G>A - 5.540 - ACAD9_000001 MSCV_0000953 rs115532916 - ; clinVar; 21057504 - - - +/+ c.976G>A p.(Ala326Thr) missense_variant - - - 10/18 probably_damaging(0.968) - deleterious(0)
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown subst g.128622922G>C - 5.540 - ACAD9_000002 MSCV_0000954 rs115532916 - ; 21057504 - - - ./. c.976G>C p.(Ala326Pro) missense_variant - - - 10/18 probably_damaging(0.997) - deleterious(0)
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown subst g.128625063C>T - 4.770 - ACAD9_000003 MSCV_0000955 rs368949613 - ; clinVar; 21057504 - - - +/+ c.1249C>T p.(Arg417Cys) missense_variant - - - 12/18 probably_damaging(1) - deleterious(0)
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown subst g.128628894C>T - 1.830 - ACAD9_000004 MSCV_0000956 rs377022708 - ; clinVar; 21057504;22499348 - - - +/+ c.1594C>T p.(Arg532Trp) missense_variant - - - 16/18 probably_damaging(0.995) - deleterious(0)
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598367T>C - - - ACAD9_000059 MSCV_0020443 - - ; clinvar; - - - - ./. c.-168T>C p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598444G>T - - - ACAD9_000060 MSCV_0020444 - - ; clinvar; - - - - ./. c.-91G>T p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598469_128598470insGT - - - ACAD9_000058 MSCV_0020445 - - ; clinvar; - - - - ./. c.-66_-65insGT p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598470_128598471del - - - ACAD9_000046 MSCV_0020446 - - ; clinvar; - - - - ./. c.-65_-64del p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598490_128598491insTAAG - - - ACAD9_000006 MSCV_0000949 - - ; clinvar; - - - - ./. c.-45_-44insTAAG p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598535A>G - - - ACAD9_000047 MSCV_0020448 - - ; clinvar; - - - - ./. c.1A>G p.? - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598536T>G - - - ACAD9_000048 MSCV_0020449 - - ; clinvar; - - - - ./. c.2T>G p.? - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598575C>T - - - ACAD9_000049 MSCV_0020450 - - ; clinvar; - - - - ./. c.41C>T p.(Ala14Val) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598578G>C - - - ACAD9_000050 MSCV_0020451 - - ; clinvar; - - - - ./. c.44G>C p.(Arg15Pro) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128598664T>A - - - ACAD9_000008 MSCV_0000951 - - ; clinvar; - - - - ./. c.130T>A p.(Phe44Ile) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128603494A>G - - - ACAD9_000051 MSCV_0020453 - - ; clinvar; - - - - ./. c.151-2A>G p.? - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128603497A>T - - - ACAD9_000052 MSCV_0020454 - - ; clinvar; - - - - ./. c.152A>T p.(Lys51Ile) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128603540T>C - - - ACAD9_000053 MSCV_0020455 - - ; clinvar; - - - - ./. c.195T>C p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128612514del - - - ACAD9_000054 MSCV_0020456 - - ; clinvar; - - - - ./. c.346+15del p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128614164del - - - ACAD9_000055 MSCV_0020457 - - ; clinvar; - - - - ./. c.358del p.(Phe120Serfs*9) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128614185A>C - - - ACAD9_000056 MSCV_0020458 - - ; clinvar; - - - - ./. c.379A>C p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128614248A>G - - - ACAD9_000057 MSCV_0020459 - - ; clinvar; - - - - ./. c.442A>G p.(Ile148Val) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128615334C>T - - - ACAD9_000042 MSCV_0020460 - - ; clinvar; - - - - ./. c.509C>T p.(Ala170Val) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128616475T>G - - - ACAD9_000043 MSCV_0020461 - - ; clinvar; - - - - ./. c.555T>G p.(Ser185Arg) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128618283T>C - - - ACAD9_000044 MSCV_0020462 - - ; clinvar; - - - - ./. c.787T>C p.(=) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128618292C>T - - - ACAD9_000045 MSCV_0020463 - - ; clinvar; - - - - ./. c.796C>T p.(Arg266Trp) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128618293G>A - - - ACAD9_000005 MSCV_0000952 - - ; clinvar; - - - - ./. c.797G>A p.(Arg266Gln) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128621441G>A - - - ACAD9_000032 MSCV_0020465 - - ; clinvar; - - - - ./. c.928G>A p.(Val310Ile) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128622902C>G - - - ACAD9_000033 MSCV_0020466 - - ; clinvar; - - - - ./. c.959-3C>G p.? - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128622922G>A - - - ACAD9_000001 MSCV_0000953 - - ; clinvar; - - - - ./. c.976G>A p.(Ala326Thr) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128622922G>C - - - ACAD9_000002 MSCV_0000954 - - ; clinvar; - - - - ./. c.976G>C p.(Ala326Pro) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128622961T>G - - - ACAD9_000034 MSCV_0020469 - - ; clinvar; - - - - ./. c.1015T>G p.(Phe339Val) - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128623228G>T - - - ACAD9_000035 MSCV_0020470 - - ; clinvar; - - - - ./. c.1030-1G>T p.? - - - - - - - -
ACAD9 transcript variant 1 NM_014049.4 NP_054768.2 3 Unknown - g.128623261C>T - - - ACAD9_000036 MSCV_0020471 - - ; clinvar; - - - - ./. c.1062C>T p.(=) - - - - - - - -
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