Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169525853A>TCA2574085027F5c.5716+48T>A (n.5716+48T>A)
c.5731+48T>A (n.5731+48T>A)
c.5305+48T>A (n.5305+48T>A)
1g.169525854A=CA1206133625F5c.5716+47T= (n.5716+47T=)
c.5731+47T= (n.5731+47T=)
c.5305+47T= (n.5305+47T=)
1g.169525854A>CCA2511874765F5c.5716+47T>G (n.5716+47T>G)
c.5731+47T>G (n.5731+47T>G)
c.5305+47T>G (n.5305+47T>G)
1g.169525854A>GCA526710474F5c.5716+47T>C (n.5716+47T>C)
c.5731+47T>C (n.5731+47T>C)
c.5305+47T>C (n.5305+47T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.169525855T>CCA2574085028F5c.5716+46A>G (n.5716+46A>G)
c.5731+46A>G (n.5731+46A>G)
c.5305+46A>G (n.5305+46A>G)
 gnomAD v4
1g.169525855_169525856delinsTACA1206133626F5c.5716+45_5716+46delinsTA (n.5716+45_5716+46delinsTA)
c.5731+45_5731+46delinsTA (n.5731+45_5731+46delinsTA)
c.5305+45_5305+46delinsTA (n.5305+45_5305+46delinsTA)
1g.169525856delCA526710475F5c.5716+45del (n.5716+45del)
c.5731+45del (n.5731+45del)
c.5305+45del (n.5305+45del)
 dbSNP gnomAD v2 gnomAD v4
1g.169525856A>TCA2649034266F5c.5716+45T>A (n.5716+45T>A)
c.5731+45T>A (n.5731+45T>A)
c.5305+45T>A (n.5305+45T>A)
 gnomAD v4
1g.169525857G>TCA2574085029F5c.5716+44C>A (n.5716+44C>A)
c.5731+44C>A (n.5731+44C>A)
c.5305+44C>A (n.5305+44C>A)
 gnomAD v4
1g.169525858G>ACA2649034274F5c.5716+43C>T (n.5716+43C>T)
c.5731+43C>T (n.5731+43C>T)
c.5305+43C>T (n.5305+43C>T)
 gnomAD v4
1g.169525858G>TCA2649034273F5c.5716+43C>A (n.5716+43C>A)
c.5731+43C>A (n.5731+43C>A)
c.5305+43C>A (n.5305+43C>A)
 gnomAD v4
1g.169525859C>ACA2649034277F5c.5716+42G>T (n.5716+42G>T)
c.5731+42G>T (n.5731+42G>T)
c.5305+42G>T (n.5305+42G>T)
 gnomAD v4
1g.169525860A=CA1206133628F5c.5716+41T= (n.5716+41T=)
c.5731+41T= (n.5731+41T=)
c.5305+41T= (n.5305+41T=)
1g.169525860A>CCA1206133627F5c.5716+41T>G (n.5716+41T>G)
c.5731+41T>G (n.5731+41T>G)
c.5305+41T>G (n.5305+41T>G)
 dbSNP
1g.169525861C=CA1206133629F5c.5716+40G= (n.5716+40G=)
c.5731+40G= (n.5731+40G=)
c.5305+40G= (n.5305+40G=)
1g.169525861C>TCA1233429F5c.5716+40G>A (n.5716+40G>A)
c.5731+40G>A (n.5731+40G>A)
c.5305+40G>A (n.5305+40G>A)
 dbSNP ExAC gnomAD v2
1g.169525862T>CCA1233430F5c.5716+39A>G (n.5716+39A>G)
c.5731+39A>G (n.5731+39A>G)
c.5305+39A>G (n.5305+39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525862T=CA1206133630F5c.5716+39A= (n.5716+39A=)
c.5731+39A= (n.5731+39A=)
c.5305+39A= (n.5305+39A=)
1g.169525863C=CA1206133631F5c.5716+38G= (n.5716+38G=)
c.5731+38G= (n.5731+38G=)
c.5305+38G= (n.5305+38G=)
1g.169525863C>GCA1233431F5c.5716+38G>C (n.5716+38G>C)
c.5731+38G>C (n.5731+38G>C)
c.5305+38G>C (n.5305+38G>C)
 dbSNP ExAC gnomAD v2
1g.169525864T>ACA1008973816F5c.5716+37A>T (n.5716+37A>T)
c.5731+37A>T (n.5731+37A>T)
c.5305+37A>T (n.5305+37A>T)
 dbSNP gnomAD v3 gnomAD v4
1g.169525864T>CCA1206133633F5c.5716+37A>G (n.5716+37A>G)
c.5731+37A>G (n.5731+37A>G)
c.5305+37A>G (n.5305+37A>G)
 dbSNP
1g.169525864T=CA1206133634F5c.5716+37A= (n.5716+37A=)
c.5731+37A= (n.5731+37A=)
c.5305+37A= (n.5305+37A=)
1g.169525865C>ACA2649034282F5c.5716+36G>T (n.5716+36G>T)
c.5731+36G>T (n.5731+36G>T)
c.5305+36G>T (n.5305+36G>T)
 gnomAD v4
1g.169525865C>TCA2574085030F5c.5716+36G>A (n.5716+36G>A)
c.5731+36G>A (n.5731+36G>A)
c.5305+36G>A (n.5305+36G>A)
1g.169525867T>ACA2649034283F5c.5716+34A>T (n.5716+34A>T)
c.5731+34A>T (n.5731+34A>T)
c.5305+34A>T (n.5305+34A>T)
 gnomAD v4
1g.169525867T>CCA2574085031F5c.5716+34A>G (n.5716+34A>G)
c.5731+34A>G (n.5731+34A>G)
c.5305+34A>G (n.5305+34A>G)
1g.169525868G>ACA526710476F5c.5716+33C>T (n.5716+33C>T)
c.5731+33C>T (n.5731+33C>T)
c.5305+33C>T (n.5305+33C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169525868G=CA1206133635F5c.5716+33C= (n.5716+33C=)
c.5731+33C= (n.5731+33C=)
c.5305+33C= (n.5305+33C=)
1g.169525868G>TCA2649034286F5c.5716+33C>A (n.5716+33C>A)
c.5731+33C>A (n.5731+33C>A)
c.5305+33C>A (n.5305+33C>A)
 gnomAD v4
1g.169525869C>ACA1233432F5c.5716+32G>T (n.5716+32G>T)
c.5731+32G>T (n.5731+32G>T)
c.5305+32G>T (n.5305+32G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525869C=CA1206133636F5c.5716+32G= (n.5716+32G=)
c.5731+32G= (n.5731+32G=)
c.5305+32G= (n.5305+32G=)
1g.169525870C>ACA1233433F5c.5716+31G>T (n.5716+31G>T)
c.5731+31G>T (n.5731+31G>T)
c.5305+31G>T (n.5305+31G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525870C=CA1206133637F5c.5716+31G= (n.5716+31G=)
c.5731+31G= (n.5731+31G=)
c.5305+31G= (n.5305+31G=)
1g.169525872A=CA1206133638F5c.5716+29T= (n.5716+29T=)
c.5731+29T= (n.5731+29T=)
c.5305+29T= (n.5305+29T=)
1g.169525872A>GCA1206133639F5c.5716+29T>C (n.5716+29T>C)
c.5731+29T>C (n.5731+29T>C)
c.5305+29T>C (n.5305+29T>C)
 dbSNP
1g.169525874C>TCA2574085033F5c.5716+27G>A (n.5716+27G>A)
c.5731+27G>A (n.5731+27G>A)
c.5305+27G>A (n.5305+27G>A)
 gnomAD v4
1g.169525875C>ACA2649034292F5c.5716+26G>T (n.5716+26G>T)
c.5731+26G>T (n.5731+26G>T)
c.5305+26G>T (n.5305+26G>T)
 gnomAD v4
1g.169525875C=CA1206133640F5c.5716+26G= (n.5716+26G=)
c.5731+26G= (n.5731+26G=)
c.5305+26G= (n.5305+26G=)
1g.169525875C>TCA1206133641F5c.5716+26G>A (n.5716+26G>A)
c.5731+26G>A (n.5731+26G>A)
c.5305+26G>A (n.5305+26G>A)
 dbSNP
1g.169525877A=CA1206133642F5c.5716+24T= (n.5716+24T=)
c.5731+24T= (n.5731+24T=)
c.5305+24T= (n.5305+24T=)
1g.169525877A>GCA1206133644F5c.5716+24T>C (n.5716+24T>C)
c.5731+24T>C (n.5731+24T>C)
c.5305+24T>C (n.5305+24T>C)
 dbSNP
1g.169525878A=CA1206133645F5c.5716+23T= (n.5716+23T=)
c.5731+23T= (n.5731+23T=)
c.5305+23T= (n.5305+23T=)
1g.169525878A>GCA526710477F5c.5716+23T>C (n.5716+23T>C)
c.5731+23T>C (n.5731+23T>C)
c.5305+23T>C (n.5305+23T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.169525880A=CA1206133647F5c.5716+21T= (n.5716+21T=)
c.5731+21T= (n.5731+21T=)
c.5305+21T= (n.5305+21T=)
1g.169525880A>CCA32431724F5c.5716+21T>G (n.5716+21T>G)
c.5731+21T>G (n.5731+21T>G)
c.5305+21T>G (n.5305+21T>G)
 dbSNP
1g.169525881T>CCA1233434F5c.5716+20A>G (n.5716+20A>G)
c.5731+20A>G (n.5731+20A>G)
c.5305+20A>G (n.5305+20A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525881T=CA1206133649F5c.5716+20A= (n.5716+20A=)
c.5731+20A= (n.5731+20A=)
c.5305+20A= (n.5305+20A=)
1g.169525883A>GCA2649034305F5c.5716+18T>C (n.5716+18T>C)
c.5731+18T>C (n.5731+18T>C)
c.5305+18T>C (n.5305+18T>C)
 gnomAD v4
1g.169525884C=CA1144108593F5c.5716+17G= (n.5716+17G=)
c.5731+17G= (n.5731+17G=)
c.5305+17G= (n.5305+17G=)
1g.169525884C>TCA1233435F5c.5716+17G>A (n.5716+17G>A)
c.5731+17G>A (n.5731+17G>A)
c.5305+17G>A (n.5305+17G>A)
 dbSNP ExAC
1g.169525885A=CA1206133650F5c.5716+16T= (n.5716+16T=)
c.5731+16T= (n.5731+16T=)
c.5305+16T= (n.5305+16T=)
1g.169525885A>GCA890921328F5c.5716+16T>C (n.5716+16T>C)
c.5731+16T>C (n.5731+16T>C)
c.5305+16T>C (n.5305+16T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169525886T>ACA2746573877F5c.5716+15A>T (n.5716+15A>T)
c.5731+15A>T (n.5731+15A>T)
c.5305+15A>T (n.5305+15A>T)
1g.169525887G>ACA32431733F5c.5716+14C>T (n.5716+14C>T)
c.5731+14C>T (n.5731+14C>T)
c.5305+14C>T (n.5305+14C>T)
 dbSNP
1g.169525887G=CA1143773549F5c.5716+14C= (n.5716+14C=)
c.5731+14C= (n.5731+14C=)
c.5305+14C= (n.5305+14C=)
1g.169525887_169525888insACA2746573878F5c.5716+13_5716+14insT (n.5716+13_5716+14insT)
c.5731+13_5731+14insT (n.5731+13_5731+14insT)
c.5305+13_5305+14insT (n.5305+13_5305+14insT)
1g.169525888G>ACA2649034309F5c.5716+13C>T (n.5716+13C>T)
c.5731+13C>T (n.5731+13C>T)
c.5305+13C>T (n.5305+13C>T)
 gnomAD v4
1g.169525888G>TCA2649034308F5c.5716+13C>A (n.5716+13C>A)
c.5731+13C>A (n.5731+13C>A)
c.5305+13C>A (n.5305+13C>A)
 gnomAD v4
1g.169525890delCA2746573879F5c.5716+11del (n.5716+11del)
c.5731+11del (n.5731+11del)
c.5305+11del (n.5305+11del)
1g.169525891C=CA1144839998F5c.5716+10G= (n.5716+10G=)
c.5731+10G= (n.5731+10G=)
c.5305+10G= (n.5305+10G=)
1g.169525891C>TCA1233436F5c.5716+10G>A (n.5716+10G>A)
c.5731+10G>A (n.5731+10G>A)
c.5305+10G>A (n.5305+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525892T>ACA2746573890F5c.5716+9A>T (n.5716+9A>T)
c.5731+9A>T (n.5731+9A>T)
c.5305+9A>T (n.5305+9A>T)
1g.169525892T>CCA1233437F5c.5716+9A>G (n.5716+9A>G)
c.5731+9A>G (n.5731+9A>G)
c.5305+9A>G (n.5305+9A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525892T=CA1143999020F5c.5716+9A= (n.5716+9A=)
c.5731+9A= (n.5731+9A=)
c.5305+9A= (n.5305+9A=)
1g.169525893T>CCA2649034318F5c.5716+8A>G (n.5716+8A>G)
c.5731+8A>G (n.5731+8A>G)
c.5305+8A>G (n.5305+8A>G)
 gnomAD v4
1g.169525894G>ACA2649034323F5c.5716+7C>T (n.5716+7C>T)
c.5731+7C>T (n.5731+7C>T)
c.5305+7C>T (n.5305+7C>T)
 gnomAD v4
1g.169525894G=CA1206133651F5c.5716+7C= (n.5716+7C=)
c.5731+7C= (n.5731+7C=)
c.5305+7C= (n.5305+7C=)
1g.169525894G>TCA526710478F5c.5716+7C>A (n.5716+7C>A)
c.5731+7C>A (n.5731+7C>A)
c.5305+7C>A (n.5305+7C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.169525895T>CCA2525851617F5c.5716+6A>G (n.5716+6A>G)
c.5731+6A>G (n.5731+6A>G)
c.5305+6A>G (n.5305+6A>G)
1g.169525896delCA2649034336F5c.5716+5del (n.5716+5del)
c.5731+5del (n.5731+5del)
c.5305+5del (n.5305+5del)
 gnomAD v4
1g.169525896G>ACA526710479F5c.5716+5C>T (n.5716+5C>T)
c.5731+5C>T (n.5731+5C>T)
c.5305+5C>T (n.5305+5C>T)
 dbSNP gnomAD v2
1g.169525896G=CA1206133652F5c.5716+5C= (n.5716+5C=)
c.5731+5C= (n.5731+5C=)
c.5305+5C= (n.5305+5C=)
1g.169525896G>TCA2574085036F5c.5716+5C>A (n.5716+5C>A)
c.5731+5C>A (n.5731+5C>A)
c.5305+5C>A (n.5305+5C>A)
 gnomAD v4
1g.169525898T>CCA2649034342F5c.5716+3A>G (n.5716+3A>G)
c.5731+3A>G (n.5731+3A>G)
c.5305+3A>G (n.5305+3A>G)
 gnomAD v4
1g.169525899A>CCA343124478F5c.5716+2T>G (n.5716+2T>G)
c.5731+2T>G (n.5731+2T>G)
c.5305+2T>G (n.5305+2T>G)
1g.169525899A>GCA343124476F5c.5716+2T>C (n.5716+2T>C)
c.5731+2T>C (n.5731+2T>C)
c.5305+2T>C (n.5305+2T>C)
1g.169525899A>TCA343124475F5c.5716+2T>A (n.5716+2T>A)
c.5731+2T>A (n.5731+2T>A)
c.5305+2T>A (n.5305+2T>A)
1g.169525900C>ACA343124480F5c.5716+1G>T (n.5716+1G>T)
c.5731+1G>T (n.5731+1G>T)
c.5305+1G>T (n.5305+1G>T)
1g.169525900C>GCA343124484F5c.5716+1G>C (n.5716+1G>C)
c.5731+1G>C (n.5731+1G>C)
c.5305+1G>C (n.5305+1G>C)
1g.169525900C>TCA343124482F5c.5716+1G>A (n.5716+1G>A)
c.5731+1G>A (n.5731+1G>A)
c.5305+1G>A (n.5305+1G>A)
 gnomAD v4
1g.169525900_169525901delCA2746573891F5c.5716_5716+1del
c.5731_5731+1del
c.5305_5305+1del
1g.169525901C>ACA343124486F5c.5716G>T (p.Asp1906Tyr)
c.5731G>T (p.Asp1911Tyr)
c.5305G>T (p.Asp1769Tyr)
1g.169525901C>GCA343124489F5c.5716G>C (p.Asp1906His)
c.5731G>C (p.Asp1911His)
c.5305G>C (p.Asp1769His)
1g.169525901C>TCA343124492F5c.5716G>A (p.Asp1906Asn)
c.5731G>A (p.Asp1911Asn)
c.5305G>A (p.Asp1769Asn)
1g.169525902T>ACA343124498F5c.5715A>T (p.Arg1905Ser)
c.5730A>T (p.Arg1910Ser)
c.5304A>T (p.Arg1768Ser)
1g.169525902T>CCA421735088F5c.5715A>G (p.Arg1905=)
c.5730A>G (p.Arg1910=)
c.5304A>G (p.Arg1768=)
 gnomAD v4
1g.169525902T>GCA343124500F5c.5715A>C (p.Arg1905Ser)
c.5730A>C (p.Arg1910Ser)
c.5304A>C (p.Arg1768Ser)
1g.169525903C>ACA343124503F5c.5714G>T (p.Arg1905Ile)
c.5729G>T (p.Arg1910Ile)
c.5303G>T (p.Arg1768Ile)
1g.169525903C>GCA343124506F5c.5714G>C (p.Arg1905Thr)
c.5729G>C (p.Arg1910Thr)
c.5303G>C (p.Arg1768Thr)
1g.169525903C>TCA343124510F5c.5714G>A (p.Arg1905Lys)
c.5729G>A (p.Arg1910Lys)
c.5303G>A (p.Arg1768Lys)
1g.169525904T>ACA343124513F5c.5713A>T (p.Arg1905Ter)
c.5728A>T (p.Arg1910Ter)
c.5302A>T (p.Arg1768Ter)
1g.169525904T>CCA343124516F5c.5713A>G (p.Arg1905Gly)
c.5728A>G (p.Arg1910Gly)
c.5302A>G (p.Arg1768Gly)
 dbSNP gnomAD v4
1g.169525904T>GCA421735089F5c.5713A>C (p.Arg1905=)
c.5728A>C (p.Arg1910=)
c.5302A>C (p.Arg1768=)
1g.169525904T=CA1206133654F5c.5713A= (p.Arg1905=)
c.5728A= (p.Arg1910=)
c.5302A= (p.Arg1768=)
1g.169525905G>ACA421735090F5c.5712C>T (p.Asp1904=)
c.5727C>T (p.Asp1909=)
c.5301C>T (p.Asp1767=)
1g.169525905G>CCA343124523F5c.5712C>G (p.Asp1904Glu)
c.5727C>G (p.Asp1909Glu)
c.5301C>G (p.Asp1767Glu)
1g.169525905G>TCA343124525F5c.5712C>A (p.Asp1904Glu)
c.5727C>A (p.Asp1909Glu)
c.5301C>A (p.Asp1767Glu)
 gnomAD v4
1g.169525906T>ACA343124534F5c.5711A>T (p.Asp1904Val)
c.5726A>T (p.Asp1909Val)
c.5300A>T (p.Asp1767Val)
 gnomAD v4
1g.169525906T>CCA343124528F5c.5711A>G (p.Asp1904Gly)
c.5726A>G (p.Asp1909Gly)
c.5300A>G (p.Asp1767Gly)
1g.169525906T>GCA343124532F5c.5711A>C (p.Asp1904Ala)
c.5726A>C (p.Asp1909Ala)
c.5300A>C (p.Asp1767Ala)
1g.169525907C>ACA343124539F5c.5710G>T (p.Asp1904Tyr)
c.5725G>T (p.Asp1909Tyr)
c.5299G>T (p.Asp1767Tyr)
1g.169525907C=CA1206133655F5c.5710G= (p.Asp1904=)
c.5725G= (p.Asp1909=)
c.5299G= (p.Asp1767=)
1g.169525907C>GCA343124540F5c.5710G>C (p.Asp1904His)
c.5725G>C (p.Asp1909His)
c.5299G>C (p.Asp1767His)
1g.169525907C>TCA343124543F5c.5710G>A (p.Asp1904Asn)
c.5725G>A (p.Asp1909Asn)
c.5299G>A (p.Asp1767Asn)
 dbSNP gnomAD v4
1g.169525908C>ACA343124545F5c.5709G>T (p.Met1903Ile)
c.5724G>T (p.Met1908Ile)
c.5298G>T (p.Met1766Ile)
 gnomAD v4
1g.169525908C>GCA343124548F5c.5709G>C (p.Met1903Ile)
c.5724G>C (p.Met1908Ile)
c.5298G>C (p.Met1766Ile)
1g.169525908C>TCA343124550F5c.5709G>A (p.Met1903Ile)
c.5724G>A (p.Met1908Ile)
c.5298G>A (p.Met1766Ile)
1g.169525909A=CA1206133656F5c.5708T= (p.Met1903=)
c.5723T= (p.Met1908=)
c.5297T= (p.Met1766=)
1g.169525909A>CCA343124555F5c.5708T>G (p.Met1903Arg)
c.5723T>G (p.Met1908Arg)
c.5297T>G (p.Met1766Arg)
1g.169525909A>GCA343124560F5c.5708T>C (p.Met1903Thr)
c.5723T>C (p.Met1908Thr)
c.5297T>C (p.Met1766Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.169525909A>TCA343124562F5c.5708T>A (p.Met1903Lys)
c.5723T>A (p.Met1908Lys)
c.5297T>A (p.Met1766Lys)
1g.169525910T>ACA343124570F5c.5707A>T (p.Met1903Leu)
c.5722A>T (p.Met1908Leu)
c.5296A>T (p.Met1766Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.169525910T>CCA343124571F5c.5707A>G (p.Met1903Val)
c.5722A>G (p.Met1908Val)
c.5296A>G (p.Met1766Val)
 gnomAD v4
1g.169525910T>GCA343124572F5c.5707A>C (p.Met1903Leu)
c.5722A>C (p.Met1908Leu)
c.5296A>C (p.Met1766Leu)
 gnomAD v4
1g.169525910T=CA1206133658F5c.5707A= (p.Met1903=)
c.5722A= (p.Met1908=)
c.5296A= (p.Met1766=)
1g.169525911G>ACA421735091F5c.5706C>T (p.Ile1902=)
c.5721C>T (p.Ile1907=)
c.5295C>T (p.Ile1765=)
1g.169525911G>CCA343124575F5c.5706C>G (p.Ile1902Met)
c.5721C>G (p.Ile1907Met)
c.5295C>G (p.Ile1765Met)
1g.169525911G>TCA421735092F5c.5706C>A (p.Ile1902=)
c.5721C>A (p.Ile1907=)
c.5295C>A (p.Ile1765=)
1g.169525912A>CCA343124588F5c.5705T>G (p.Ile1902Ser)
c.5720T>G (p.Ile1907Ser)
c.5294T>G (p.Ile1765Ser)
1g.169525912A>GCA343124580F5c.5705T>C (p.Ile1902Thr)
c.5720T>C (p.Ile1907Thr)
c.5294T>C (p.Ile1765Thr)
1g.169525912A>TCA343124585F5c.5705T>A (p.Ile1902Asn)
c.5720T>A (p.Ile1907Asn)
c.5294T>A (p.Ile1765Asn)
1g.169525913T>ACA343124591F5c.5704A>T (p.Ile1902Phe)
c.5719A>T (p.Ile1907Phe)
c.5293A>T (p.Ile1765Phe)
1g.169525913T>CCA343124593F5c.5704A>G (p.Ile1902Val)
c.5719A>G (p.Ile1907Val)
c.5293A>G (p.Ile1765Val)
 gnomAD v4
1g.169525913T>GCA343124609F5c.5704A>C (p.Ile1902Leu)
c.5719A>C (p.Ile1907Leu)
c.5293A>C (p.Ile1765Leu)
1g.169525914A>CCA421735093F5c.5703T>G (p.Leu1901=)
c.5718T>G (p.Leu1906=)
c.5292T>G (p.Leu1764=)
1g.169525914A>GCA421735094F5c.5703T>C (p.Leu1901=)
c.5718T>C (p.Leu1906=)
c.5292T>C (p.Leu1764=)
1g.169525914A>TCA421735095F5c.5703T>A (p.Leu1901=)
c.5718T>A (p.Leu1906=)
c.5292T>A (p.Leu1764=)
1g.169525915A>CCA343124612F5c.5702T>G (p.Leu1901Arg)
c.5717T>G (p.Leu1906Arg)
c.5291T>G (p.Leu1764Arg)
1g.169525915A>GCA343124614F5c.5702T>C (p.Leu1901Pro)
c.5717T>C (p.Leu1906Pro)
c.5291T>C (p.Leu1764Pro)
1g.169525915A>TCA343124616F5c.5702T>A (p.Leu1901His)
c.5717T>A (p.Leu1906His)
c.5291T>A (p.Leu1764His)
1g.169525916G>ACA343124619F5c.5701C>T (p.Leu1901Phe)
c.5716C>T (p.Leu1906Phe)
c.5290C>T (p.Leu1764Phe)
 gnomAD v4
1g.169525916G>CCA343124621F5c.5701C>G (p.Leu1901Val)
c.5716C>G (p.Leu1906Val)
c.5290C>G (p.Leu1764Val)
1g.169525916G>TCA343124624F5c.5701C>A (p.Leu1901Ile)
c.5716C>A (p.Leu1906Ile)
c.5290C>A (p.Leu1764Ile)
 COSMIC
1g.169525917A>CCA343124628F5c.5700T>G (p.Phe1900Leu)
c.5715T>G (p.Phe1905Leu)
c.5289T>G (p.Phe1763Leu)
1g.169525917A>GCA421735096F5c.5700T>C (p.Phe1900=)
c.5715T>C (p.Phe1905=)
c.5289T>C (p.Phe1763=)
1g.169525917A>TCA343124631F5c.5700T>A (p.Phe1900Leu)
c.5715T>A (p.Phe1905Leu)
c.5289T>A (p.Phe1763Leu)
1g.169525918A>CCA343124652F5c.5699T>G (p.Phe1900Cys)
c.5714T>G (p.Phe1905Cys)
c.5288T>G (p.Phe1763Cys)
1g.169525918A>GCA343124637F5c.5699T>C (p.Phe1900Ser)
c.5714T>C (p.Phe1905Ser)
c.5288T>C (p.Phe1763Ser)
1g.169525918A>TCA343124650F5c.5699T>A (p.Phe1900Tyr)
c.5714T>A (p.Phe1905Tyr)
c.5288T>A (p.Phe1763Tyr)
1g.169525919A>CCA343124658F5c.5698T>G (p.Phe1900Val)
c.5713T>G (p.Phe1905Val)
c.5287T>G (p.Phe1763Val)
1g.169525919A>GCA343124661F5c.5698T>C (p.Phe1900Leu)
c.5713T>C (p.Phe1905Leu)
c.5287T>C (p.Phe1763Leu)
1g.169525919A>TCA343124665F5c.5698T>A (p.Phe1900Ile)
c.5713T>A (p.Phe1905Ile)
c.5287T>A (p.Phe1763Ile)
1g.169525920T>ACA421735097F5c.5697A>T (p.Pro1899=)
c.5712A>T (p.Pro1904=)
c.5286A>T (p.Pro1762=)
1g.169525920T>CCA421735098F5c.5697A>G (p.Pro1899=)
c.5712A>G (p.Pro1904=)
c.5286A>G (p.Pro1762=)
 dbSNP gnomAD v3 gnomAD v4
1g.169525920T>GCA421735099F5c.5697A>C (p.Pro1899=)
c.5712A>C (p.Pro1904=)
c.5286A>C (p.Pro1762=)
1g.169525920T=CA1206133660F5c.5697A= (p.Pro1899=)
c.5712A= (p.Pro1904=)
c.5286A= (p.Pro1762=)
1g.169525921G>ACA343124668F5c.5696C>T (p.Pro1899Leu)
c.5711C>T (p.Pro1904Leu)
c.5285C>T (p.Pro1762Leu)
1g.169525921G>CCA343124670F5c.5696C>G (p.Pro1899Arg)
c.5711C>G (p.Pro1904Arg)
c.5285C>G (p.Pro1762Arg)
1g.169525921G>TCA343124671F5c.5696C>A (p.Pro1899Gln)
c.5711C>A (p.Pro1904Gln)
c.5285C>A (p.Pro1762Gln)
1g.169525922_169525924delCA2649034383F5c.5694_5696del (p.Pro1899del)
c.5709_5711del (p.Pro1904del)
c.5283_5285del (p.Pro1762del)
 gnomAD v4
1g.169525922G>ACA343124676F5c.5695C>T (p.Pro1899Ser)
c.5710C>T (p.Pro1904Ser)
c.5284C>T (p.Pro1762Ser)
 gnomAD v4
1g.169525922G>CCA343124679F5c.5695C>G (p.Pro1899Ala)
c.5710C>G (p.Pro1904Ala)
c.5284C>G (p.Pro1762Ala)
1g.169525922G>TCA343124681F5c.5695C>A (p.Pro1899Thr)
c.5710C>A (p.Pro1904Thr)
c.5284C>A (p.Pro1762Thr)
1g.169525923C>ACA421735100F5c.5694G>T (p.Thr1898=)
c.5709G>T (p.Thr1903=)
c.5283G>T (p.Thr1761=)
 gnomAD v4
1g.169525923C=CA1141274569F5c.5694G= (p.Thr1898=)
c.5709G= (p.Thr1903=)
c.5283G= (p.Thr1761=)
1g.169525923C>GCA1233439F5c.5694G>C (p.Thr1898=)
c.5709G>C (p.Thr1903=)
c.5283G>C (p.Thr1761=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525923C>TCA1233438F5c.5694G>A (p.Thr1898=)
c.5709G>A (p.Thr1903=)
c.5283G>A (p.Thr1761=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525924G>ACA1233440F5c.5693C>T (p.Thr1898Met)
c.5708C>T (p.Thr1903Met)
c.5282C>T (p.Thr1761Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525924G>CCA343124696F5c.5693C>G (p.Thr1898Arg)
c.5708C>G (p.Thr1903Arg)
c.5282C>G (p.Thr1761Arg)
1g.169525924G=CA1143556402F5c.5693C= (p.Thr1898=)
c.5708C= (p.Thr1903=)
c.5282C= (p.Thr1761=)
1g.169525924G>TCA343124684F5c.5693C>A (p.Thr1898Lys)
c.5708C>A (p.Thr1903Lys)
c.5282C>A (p.Thr1761Lys)
1g.169525925T>ACA343124699F5c.5692A>T (p.Thr1898Ser)
c.5707A>T (p.Thr1903Ser)
c.5281A>T (p.Thr1761Ser)
1g.169525925T>CCA343124703F5c.5692A>G (p.Thr1898Ala)
c.5707A>G (p.Thr1903Ala)
c.5281A>G (p.Thr1761Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.169525925T>GCA343124701F5c.5692A>C (p.Thr1898Pro)
c.5707A>C (p.Thr1903Pro)
c.5281A>C (p.Thr1761Pro)
1g.169525925T=CA1206133663F5c.5692A= (p.Thr1898=)
c.5707A= (p.Thr1903=)
c.5281A= (p.Thr1761=)
1g.169525926T>ACA343124707F5c.5691A>T (p.Gln1897His)
c.5706A>T (p.Gln1902His)
c.5280A>T (p.Gln1760His)
1g.169525926T>CCA421735101F5c.5691A>G (p.Gln1897=)
c.5706A>G (p.Gln1902=)
c.5280A>G (p.Gln1760=)
1g.169525926T>GCA343124712F5c.5691A>C (p.Gln1897His)
c.5706A>C (p.Gln1902His)
c.5280A>C (p.Gln1760His)
 COSMIC
1g.169525927T>ACA343124714F5c.5690A>T (p.Gln1897Leu)
c.5705A>T (p.Gln1902Leu)
c.5279A>T (p.Gln1760Leu)
1g.169525927T>CCA343124728F5c.5690A>G (p.Gln1897Arg)
c.5705A>G (p.Gln1902Arg)
c.5279A>G (p.Gln1760Arg)
1g.169525927T>GCA343124730F5c.5690A>C (p.Gln1897Pro)
c.5705A>C (p.Gln1902Pro)
c.5279A>C (p.Gln1760Pro)
1g.169525928G>ACA343124733F5c.5689C>T (p.Gln1897Ter)
c.5704C>T (p.Gln1902Ter)
c.5278C>T (p.Gln1760Ter)
1g.169525928G>CCA343124735F5c.5689C>G (p.Gln1897Glu)
c.5704C>G (p.Gln1902Glu)
c.5278C>G (p.Gln1760Glu)
1g.169525928G=CA1206133665F5c.5689C= (p.Gln1897=)
c.5704C= (p.Gln1902=)
c.5278C= (p.Gln1760=)
1g.169525928G>TCA343124740F5c.5689C>A (p.Gln1897Lys)
c.5704C>A (p.Gln1902Lys)
c.5278C>A (p.Gln1760Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.169525929C>ACA343124742F5c.5688G>T (p.Met1896Ile)
c.5703G>T (p.Met1901Ile)
c.5277G>T (p.Met1759Ile)
1g.169525929C=CA1206133667F5c.5688G= (p.Met1896=)
c.5703G= (p.Met1901=)
c.5277G= (p.Met1759=)
1g.169525929C>GCA343124744F5c.5688G>C (p.Met1896Ile)
c.5703G>C (p.Met1901Ile)
c.5277G>C (p.Met1759Ile)
1g.169525929C>TCA1233441F5c.5688G>A (p.Met1896Ile)
c.5703G>A (p.Met1901Ile)
c.5277G>A (p.Met1759Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525929_169525931delinsCATCA1206133668F5c.5686_5688delinsATG (p.Met1896=)
c.5701_5703delinsATG (p.Met1901=)
c.5275_5277delinsATG (p.Met1759=)
1g.169525930A>CCA343124751F5c.5687T>G (p.Met1896Arg)
c.5702T>G (p.Met1901Arg)
c.5276T>G (p.Met1759Arg)
 gnomAD v4
1g.169525930A>GCA343124752F5c.5687T>C (p.Met1896Thr)
c.5702T>C (p.Met1901Thr)
c.5276T>C (p.Met1759Thr)
1g.169525930A>TCA343124756F5c.5687T>A (p.Met1896Lys)
c.5702T>A (p.Met1901Lys)
c.5276T>A (p.Met1759Lys)
1g.169525930_169525931delCA890921385F5c.5686_5687del (p.Met1896AlafsTer12)
c.5701_5702del (p.Met1901AlafsTer12)
c.5275_5276del (p.Met1759AlafsTer12)
 dbSNP gnomAD v3 gnomAD v4
1g.169525931T>ACA343124766F5c.5686A>T (p.Met1896Leu)
c.5701A>T (p.Met1901Leu)
c.5275A>T (p.Met1759Leu)
1g.169525931T>CCA343124760F5c.5686A>G (p.Met1896Val)
c.5701A>G (p.Met1901Val)
c.5275A>G (p.Met1759Val)
 gnomAD v4
1g.169525931T>GCA343124763F5c.5686A>C (p.Met1896Leu)
c.5701A>C (p.Met1901Leu)
c.5275A>C (p.Met1759Leu)
1g.169525931_169525933delinsTCCCA1206133671F5c.5684_5686delinsGGA (p.Gly1895=)
c.5699_5701delinsGGA (p.Gly1900=)
c.5273_5275delinsGGA (p.Gly1758=)
1g.169525932C>ACA421735104F5c.5685G>T (p.Gly1895=)
c.5700G>T (p.Gly1900=)
c.5274G>T (p.Gly1758=)
1g.169525932C>GCA421735103F5c.5685G>C (p.Gly1895=)
c.5700G>C (p.Gly1900=)
c.5274G>C (p.Gly1758=)
1g.169525932C>TCA421735102F5c.5685G>A (p.Gly1895=)
c.5700G>A (p.Gly1900=)
c.5274G>A (p.Gly1758=)
1g.169525933_169525934delCA526710480F5c.5684_5685del (p.Gly1895AspfsTer13)
c.5699_5700del (p.Gly1900AspfsTer13)
c.5273_5274del (p.Gly1758AspfsTer13)
 dbSNP gnomAD v2 gnomAD v4
1g.169525933C>ACA343124769F5c.5684G>T (p.Gly1895Val)
c.5699G>T (p.Gly1900Val)
c.5273G>T (p.Gly1758Val)
1g.169525933C>GCA343124772F5c.5684G>C (p.Gly1895Ala)
c.5699G>C (p.Gly1900Ala)
c.5273G>C (p.Gly1758Ala)
1g.169525933C>TCA343124774F5c.5684G>A (p.Gly1895Glu)
c.5699G>A (p.Gly1900Glu)
c.5273G>A (p.Gly1758Glu)
1g.169525934C>ACA343124779F5c.5683G>T (p.Gly1895Trp)
c.5698G>T (p.Gly1900Trp)
c.5272G>T (p.Gly1758Trp)
1g.169525934C>GCA343124781F5c.5683G>C (p.Gly1895Arg)
c.5698G>C (p.Gly1900Arg)
c.5272G>C (p.Gly1758Arg)
1g.169525934C>TCA343124784F5c.5683G>A (p.Gly1895Arg)
c.5698G>A (p.Gly1900Arg)
c.5272G>A (p.Gly1758Arg)
1g.169525935T>ACA421735107F5c.5682A>T (p.Ala1894=)
c.5697A>T (p.Ala1899=)
c.5271A>T (p.Ala1757=)
1g.169525935T>CCA421735106F5c.5682A>G (p.Ala1894=)
c.5697A>G (p.Ala1899=)
c.5271A>G (p.Ala1757=)
 dbSNP gnomAD v2 gnomAD v4
1g.169525935T>GCA421735105F5c.5682A>C (p.Ala1894=)
c.5697A>C (p.Ala1899=)
c.5271A>C (p.Ala1757=)
1g.169525935T=CA1206133674F5c.5682A= (p.Ala1894=)
c.5697A= (p.Ala1899=)
c.5271A= (p.Ala1757=)
1g.169525936G>ACA343124787F5c.5681C>T (p.Ala1894Val)
c.5696C>T (p.Ala1899Val)
c.5270C>T (p.Ala1757Val)
 dbSNP
1g.169525936G>CCA343124789F5c.5681C>G (p.Ala1894Gly)
c.5696C>G (p.Ala1899Gly)
c.5270C>G (p.Ala1757Gly)
1g.169525936G=CA1206133676F5c.5681C= (p.Ala1894=)
c.5696C= (p.Ala1899=)
c.5270C= (p.Ala1757=)
1g.169525936G>TCA343124790F5c.5681C>A (p.Ala1894Glu)
c.5696C>A (p.Ala1899Glu)
c.5270C>A (p.Ala1757Glu)
1g.169525937C>ACA343124792F5c.5680G>T (p.Ala1894Ser)
c.5695G>T (p.Ala1899Ser)
c.5269G>T (p.Ala1757Ser)
1g.169525937C=CA1143573141F5c.5680G= (p.Ala1894=)
c.5695G= (p.Ala1899=)
c.5269G= (p.Ala1757=)
1g.169525937C>GCA343124795F5c.5680G>C (p.Ala1894Pro)
c.5695G>C (p.Ala1899Pro)
c.5269G>C (p.Ala1757Pro)
1g.169525937C>TCA1233442F5c.5680G>A (p.Ala1894Thr)
c.5695G>A (p.Ala1899Thr)
c.5269G>A (p.Ala1757Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525938T>ACA343124802F5c.5679A>T (p.Arg1893Ser)
c.5694A>T (p.Arg1898Ser)
c.5268A>T (p.Arg1756Ser)
1g.169525938T>CCA421735108F5c.5679A>G (p.Arg1893=)
c.5694A>G (p.Arg1898=)
c.5268A>G (p.Arg1756=)
 gnomAD v4
1g.169525938T>GCA343124806F5c.5679A>C (p.Arg1893Ser)
c.5694A>C (p.Arg1898Ser)
c.5268A>C (p.Arg1756Ser)
1g.169525939C>ACA343124809F5c.5678G>T (p.Arg1893Ile)
c.5693G>T (p.Arg1898Ile)
c.5267G>T (p.Arg1756Ile)
1g.169525939C=CA1206133678F5c.5678G= (p.Arg1893=)
c.5693G= (p.Arg1898=)
c.5267G= (p.Arg1756=)
1g.169525939C>GCA343124817F5c.5678G>C (p.Arg1893Thr)
c.5693G>C (p.Arg1898Thr)
c.5267G>C (p.Arg1756Thr)
 gnomAD v4
1g.169525939C>TCA32431786F5c.5678G>A (p.Arg1893Lys)
c.5693G>A (p.Arg1898Lys)
c.5267G>A (p.Arg1756Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.169525940T>ACA343124822F5c.5677A>T (p.Arg1893Ter)
c.5692A>T (p.Arg1898Ter)
c.5266A>T (p.Arg1756Ter)
1g.169525940T>CCA343124823F5c.5677A>G (p.Arg1893Gly)
c.5692A>G (p.Arg1898Gly)
c.5266A>G (p.Arg1756Gly)
1g.169525940T>GCA421735109F5c.5677A>C (p.Arg1893=)
c.5692A>C (p.Arg1898=)
c.5266A>C (p.Arg1756=)
1g.169525941C>ACA343124824F5c.5676G>T (p.Gln1892His)
c.5691G>T (p.Gln1897His)
c.5265G>T (p.Gln1755His)
1g.169525941C=CA1206133680F5c.5676G= (p.Gln1892=)
c.5691G= (p.Gln1897=)
c.5265G= (p.Gln1755=)
1g.169525941C>GCA343124825F5c.5676G>C (p.Gln1892His)
c.5691G>C (p.Gln1897His)
c.5265G>C (p.Gln1755His)
1g.169525941C>TCA1233443F5c.5676G>A (p.Gln1892=)
c.5691G>A (p.Gln1897=)
c.5265G>A (p.Gln1755=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525942T>ACA343124829F5c.5675A>T (p.Gln1892Leu)
c.5690A>T (p.Gln1897Leu)
c.5264A>T (p.Gln1755Leu)
1g.169525942T>CCA343124836F5c.5675A>G (p.Gln1892Arg)
c.5690A>G (p.Gln1897Arg)
c.5264A>G (p.Gln1755Arg)
1g.169525942T>GCA343124842F5c.5675A>C (p.Gln1892Pro)
c.5690A>C (p.Gln1897Pro)
c.5264A>C (p.Gln1755Pro)
1g.169525943G>ACA343124845F5c.5674C>T (p.Gln1892Ter)
c.5689C>T (p.Gln1897Ter)
c.5263C>T (p.Gln1755Ter)
1g.169525943G>CCA1233444F5c.5674C>G (p.Gln1892Glu)
c.5689C>G (p.Gln1897Glu)
c.5263C>G (p.Gln1755Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525943G=CA1206133682F5c.5674C= (p.Gln1892=)
c.5689C= (p.Gln1897=)
c.5263C= (p.Gln1755=)
1g.169525943G>TCA343124846F5c.5674C>A (p.Gln1892Lys)
c.5689C>A (p.Gln1897Lys)
c.5263C>A (p.Gln1755Lys)
1g.169525944G>ACA421735111F5c.5673C>T (p.Asn1891=)
c.5688C>T (p.Asn1896=)
c.5262C>T (p.Asn1754=)
 gnomAD v4 COSMIC
1g.169525944G>CCA1233445F5c.5673C>G (p.Asn1891Lys)
c.5688C>G (p.Asn1896Lys)
c.5262C>G (p.Asn1754Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525944G=CA1206133684F5c.5673C= (p.Asn1891=)
c.5688C= (p.Asn1896=)
c.5262C= (p.Asn1754=)
1g.169525944G>TCA343124849F5c.5673C>A (p.Asn1891Lys)
c.5688C>A (p.Asn1896Lys)
c.5262C>A (p.Asn1754Lys)
 gnomAD v4
1g.169525945T>ACA343124852F5c.5672A>T (p.Asn1891Ile)
c.5687A>T (p.Asn1896Ile)
c.5261A>T (p.Asn1754Ile)
1g.169525945T>CCA343124854F5c.5672A>G (p.Asn1891Ser)
c.5687A>G (p.Asn1896Ser)
c.5261A>G (p.Asn1754Ser)
 COSMIC
1g.169525945T>GCA343124862F5c.5672A>C (p.Asn1891Thr)
c.5687A>C (p.Asn1896Thr)
c.5261A>C (p.Asn1754Thr)
1g.169525948delCA2649034433F5c.5672del (p.Asn1891ThrfsTer23)
c.5687del (p.Asn1896ThrfsTer23)
c.5261del (p.Asn1754ThrfsTer23)
 gnomAD v4
1g.169525946T>ACA343124865F5c.5671A>T (p.Asn1891Tyr)
c.5686A>T (p.Asn1896Tyr)
c.5260A>T (p.Asn1754Tyr)
1g.169525946T>CCA343124868F5c.5671A>G (p.Asn1891Asp)
c.5686A>G (p.Asn1896Asp)
c.5260A>G (p.Asn1754Asp)
1g.169525946T>GCA343124870F5c.5671A>C (p.Asn1891His)
c.5686A>C (p.Asn1896His)
c.5260A>C (p.Asn1754His)
1g.169525947T>ACA343124871F5c.5670A>T (p.Glu1890Asp)
c.5685A>T (p.Glu1895Asp)
c.5259A>T (p.Glu1753Asp)
1g.169525947T>CCA421735114F5c.5670A>G (p.Glu1890=)
c.5685A>G (p.Glu1895=)
c.5259A>G (p.Glu1753=)
1g.169525947T>GCA343124872F5c.5670A>C (p.Glu1890Asp)
c.5685A>C (p.Glu1895Asp)
c.5259A>C (p.Glu1753Asp)
 gnomAD v4
1g.169525948T>ACA343124873F5c.5669A>T (p.Glu1890Val)
c.5684A>T (p.Glu1895Val)
c.5258A>T (p.Glu1753Val)
1g.169525948T>CCA343124874F5c.5669A>G (p.Glu1890Gly)
c.5684A>G (p.Glu1895Gly)
c.5258A>G (p.Glu1753Gly)
1g.169525948T>GCA343124877F5c.5669A>C (p.Glu1890Ala)
c.5684A>C (p.Glu1895Ala)
c.5258A>C (p.Glu1753Ala)
1g.169525949C>ACA343124881F5c.5668G>T (p.Glu1890Ter)
c.5683G>T (p.Glu1895Ter)
c.5257G>T (p.Glu1753Ter)
1g.169525949C=CA1144229039F5c.5668G= (p.Glu1890=)
c.5683G= (p.Glu1895=)
c.5257G= (p.Glu1753=)
1g.169525949C>GCA343124880F5c.5668G>C (p.Glu1890Gln)
c.5683G>C (p.Glu1895Gln)
c.5257G>C (p.Glu1753Gln)
1g.169525949C>TCA215974F5c.5668G>A (p.Glu1890Lys)
c.5683G>A (p.Glu1895Lys)
c.5257G>A (p.Glu1753Lys)
 ClinVar dbSNP COSMIC
1g.169525950T>ACA421735116F5c.5667A>T (p.Gly1889=)
c.5682A>T (p.Gly1894=)
c.5256A>T (p.Gly1752=)
1g.169525950T>CCA421735117F5c.5667A>G (p.Gly1889=)
c.5682A>G (p.Gly1894=)
c.5256A>G (p.Gly1752=)
1g.169525950T>GCA421735118F5c.5667A>C (p.Gly1889=)
c.5682A>C (p.Gly1894=)
c.5256A>C (p.Gly1752=)
1g.169525951C>ACA343124883F5c.5666G>T (p.Gly1889Val)
c.5681G>T (p.Gly1894Val)
c.5255G>T (p.Gly1752Val)
1g.169525951C>GCA343124885F5c.5666G>C (p.Gly1889Ala)
c.5681G>C (p.Gly1894Ala)
c.5255G>C (p.Gly1752Ala)
1g.169525951C>TCA343124884F5c.5666G>A (p.Gly1889Glu)
c.5681G>A (p.Gly1894Glu)
c.5255G>A (p.Gly1752Glu)
1g.169525952C>ACA343124887F5c.5665G>T (p.Gly1889Ter)
c.5680G>T (p.Gly1894Ter)
c.5254G>T (p.Gly1752Ter)
1g.169525952C=CA1206133688F5c.5665G= (p.Gly1889=)
c.5680G= (p.Gly1894=)
c.5254G= (p.Gly1752=)
1g.169525952C>GCA343124890F5c.5665G>C (p.Gly1889Arg)
c.5680G>C (p.Gly1894Arg)
c.5254G>C (p.Gly1752Arg)
1g.169525952C>TCA1233446F5c.5665G>A (p.Gly1889Arg)
c.5680G>A (p.Gly1894Arg)
c.5254G>A (p.Gly1752Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525953A>CCA421735119F5c.5664T>G (p.Val1888=)
c.5679T>G (p.Val1893=)
c.5253T>G (p.Val1751=)
1g.169525953A>GCA421735121F5c.5664T>C (p.Val1888=)
c.5679T>C (p.Val1893=)
c.5253T>C (p.Val1751=)
1g.169525953A>TCA421735120F5c.5664T>A (p.Val1888=)
c.5679T>A (p.Val1893=)
c.5253T>A (p.Val1751=)

Number of alleles fetched