Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149570117G>ACA251599MMADHCc.748C>T (p.Arg250Ter)
c.850C>T (p.Arg284Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570117G>CCA348869329MMADHCc.748C>G (p.Arg250Gly)
c.850C>G (p.Arg284Gly)
2g.149570117G=CA1297264326MMADHCc.748C= (p.Arg250=)
c.850C= (p.Arg284=)
2g.149570117G>TCA429405939MMADHCc.748C>A (p.Arg250=)
c.850C>A (p.Arg284=)
2g.149570118G>ACA429405940MMADHCc.747C>T (p.Tyr249=)
c.849C>T (p.Tyr283=)
2g.149570118G>CCA348869331MMADHCc.747C>G (p.Tyr249Ter)
c.849C>G (p.Tyr283Ter)
2g.149570118G>TCA348869333MMADHCc.747C>A (p.Tyr249Ter)
c.849C>A (p.Tyr283Ter)
2g.149570119T>ACA348869336MMADHCc.746A>T (p.Tyr249Phe)
c.848A>T (p.Tyr283Phe)
 gnomAD v4
2g.149570119T>CCA114488MMADHCc.746A>G (p.Tyr249Cys)
c.848A>G (p.Tyr283Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570119T>GCA348869340MMADHCc.746A>C (p.Tyr249Ser)
c.848A>C (p.Tyr283Ser)
2g.149570119T=CA1297264327MMADHCc.746A= (p.Tyr249=)
c.848A= (p.Tyr283=)
2g.149570120A=CA1297264328MMADHCc.745T= (p.Tyr249=)
c.847T= (p.Tyr283=)
2g.149570120A>CCA58332359MMADHCc.745T>G (p.Tyr249Asp)
c.847T>G (p.Tyr283Asp)
 dbSNP gnomAD v4
2g.149570120A>GCA1902273MMADHCc.745T>C (p.Tyr249His)
c.847T>C (p.Tyr283His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570120A>TCA348869342MMADHCc.745T>A (p.Tyr249Asn)
c.847T>A (p.Tyr283Asn)
2g.149570121G>ACA429405941MMADHCc.744C>T (p.Arg248=)
c.846C>T (p.Arg282=)
2g.149570121G>CCA429405942MMADHCc.744C>G (p.Arg248=)
c.846C>G (p.Arg282=)
2g.149570121G>TCA429405943MMADHCc.744C>A (p.Arg248=)
c.846C>A (p.Arg282=)
2g.149570122C>ACA348869348MMADHCc.743G>T (p.Arg248Leu)
c.845G>T (p.Arg282Leu)
2g.149570122C=CA1297264329MMADHCc.743G= (p.Arg248=)
c.845G= (p.Arg282=)
2g.149570122C>GCA348869346MMADHCc.743G>C (p.Arg248Pro)
c.845G>C (p.Arg282Pro)
2g.149570122C>TCA1902274MMADHCc.743G>A (p.Arg248His)
c.845G>A (p.Arg282His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570123G>ACA1902275MMADHCc.742C>T (p.Arg248Cys)
c.844C>T (p.Arg282Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570123G>CCA348869355MMADHCc.742C>G (p.Arg248Gly)
c.844C>G (p.Arg282Gly)
2g.149570123G=CA1297264330MMADHCc.742C= (p.Arg248=)
c.844C= (p.Arg282=)
2g.149570123G>TCA348869352MMADHCc.742C>A (p.Arg248Ser)
c.844C>A (p.Arg282Ser)
2g.149570124T>ACA348869357MMADHCc.741A>T (p.Glu247Asp)
c.843A>T (p.Glu281Asp)
2g.149570124T>CCA1902276MMADHCc.741A>G (p.Glu247=)
c.843A>G (p.Glu281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570124T>GCA348869360MMADHCc.741A>C (p.Glu247Asp)
c.843A>C (p.Glu281Asp)
2g.149570124T=CA1297264331MMADHCc.741A= (p.Glu247=)
c.843A= (p.Glu281=)
2g.149570125T>ACA348869364MMADHCc.740A>T (p.Glu247Val)
c.842A>T (p.Glu281Val)
2g.149570125T>CCA348869366MMADHCc.740A>G (p.Glu247Gly)
c.842A>G (p.Glu281Gly)
2g.149570125T>GCA348869368MMADHCc.740A>C (p.Glu247Ala)
c.842A>C (p.Glu281Ala)
2g.149570126C>ACA348869370MMADHCc.739G>T (p.Glu247Ter)
c.841G>T (p.Glu281Ter)
 ClinVar
2g.149570126C>GCA348869372MMADHCc.739G>C (p.Glu247Gln)
c.841G>C (p.Glu281Gln)
2g.149570126C>TCA348869374MMADHCc.739G>A (p.Glu247Lys)
c.841G>A (p.Glu281Lys)
 gnomAD v4
2g.149570127A>CCA348869378MMADHCc.738T>G (p.Asp246Glu)
c.840T>G (p.Asp280Glu)
2g.149570127A>GCA429405944MMADHCc.738T>C (p.Asp246=)
c.840T>C (p.Asp280=)
2g.149570127A>TCA348869380MMADHCc.738T>A (p.Asp246Glu)
c.840T>A (p.Asp280Glu)
2g.149570128T>ACA348869382MMADHCc.737A>T (p.Asp246Val)
c.839A>T (p.Asp280Val)
 dbSNP
2g.149570128T>CCA348869383MMADHCc.737A>G (p.Asp246Gly)
c.839A>G (p.Asp280Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149570128T>GCA348869384MMADHCc.737A>C (p.Asp246Ala)
c.839A>C (p.Asp280Ala)
2g.149570128T=CA1297264332MMADHCc.737A= (p.Asp246=)
c.839A= (p.Asp280=)
2g.149570129C>ACA348869385MMADHCc.736G>T (p.Asp246Tyr)
c.838G>T (p.Asp280Tyr)
2g.149570129C=CA1297264333MMADHCc.736G= (p.Asp246=)
c.838G= (p.Asp280=)
2g.149570129C>GCA348869386MMADHCc.736G>C (p.Asp246His)
c.838G>C (p.Asp280His)
2g.149570129C>TCA1902277MMADHCc.736G>A (p.Asp246Asn)
c.838G>A (p.Asp280Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570130A=CA1297264334MMADHCc.735T= (p.Thr245=)
c.837T= (p.Thr279=)
2g.149570130A>CCA1902278MMADHCc.735T>G (p.Thr245=)
c.837T>G (p.Thr279=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570130A>GCA429405946MMADHCc.735T>C (p.Thr245=)
c.837T>C (p.Thr279=)

Number of alleles fetched