Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919245_89919275delinsTCCTGGACAGGACTATGGCTGTGCAGGGATCCA2242009248MC1Rc.-14_17delinsTCCTGGACAGGACTATGGCTGTGCAGGGATC
16g.89919248_89919277delCA624455296MC1Rc.-11_19del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919268C>ACA397458894MC1Rc.10C>A (p.Gln4Lys)
gnomAD v4
16g.89919268C=CA2242009264MC1Rc.10C= (p.Gln4=)
16g.89919268C>GCA397458898MC1Rc.10C>G (p.Gln4Glu)
16g.89919268C>TCA397458896MC1Rc.10C>T (p.Gln4Ter)
ClinVar dbSNP gnomAD v4
16g.89919269A>CCA397458900MC1Rc.11A>C (p.Gln4Pro)
16g.89919269A>GCA397458902MC1Rc.11A>G (p.Gln4Arg)
gnomAD v3 gnomAD v4
16g.89919269A>TCA397458904MC1Rc.11A>T (p.Gln4Leu)
ClinVar
16g.89919270G>ACA497380475MC1Rc.12G>A (p.Gln4=)
gnomAD v4
16g.89919270G>CCA397458906MC1Rc.12G>C (p.Gln4His)
16g.89919270G>TCA397458908MC1Rc.12G>T (p.Gln4His)
gnomAD v4
16g.89919271G>ACA397458911MC1Rc.13G>A (p.Gly5Arg)
gnomAD v4
16g.89919271G>CCA397458913MC1Rc.13G>C (p.Gly5Arg)
16g.89919271G>TCA397458914MC1Rc.13G>T (p.Gly5Ter)
16g.89919272G>ACA397458916MC1Rc.14G>A (p.Gly5Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919272G>CCA397458918MC1Rc.14G>C (p.Gly5Ala)
dbSNP gnomAD v2 gnomAD v4
16g.89919272G=CA2242009265MC1Rc.14G= (p.Gly5=)
16g.89919272G>TCA397458921MC1Rc.14G>T (p.Gly5Val)
gnomAD v4
16g.89919273A>CCA497380479MC1Rc.15A>C (p.Gly5=)
16g.89919273A>GCA497380480MC1Rc.15A>G (p.Gly5=)
gnomAD v4
16g.89919273A>TCA497380482MC1Rc.15A>T (p.Gly5=)
16g.89919274T>ACA397458922MC1Rc.16T>A (p.Ser6Thr)
dbSNP gnomAD v4
16g.89919274T>CCA397458927MC1Rc.16T>C (p.Ser6Pro)
gnomAD v4
16g.89919274T>GCA397458924MC1Rc.16T>G (p.Ser6Ala)
16g.89919274T=CA2242009266MC1Rc.16T= (p.Ser6=)
16g.89919275C>ACA397458929MC1Rc.17C>A (p.Ser6Tyr)
16g.89919275C>GCA397458934MC1Rc.17C>G (p.Ser6Cys)
16g.89919275C>TCA397458931MC1Rc.17C>T (p.Ser6Phe)
16g.89919276C>ACA497380483MC1Rc.18C>A (p.Ser6=)
16g.89919276C=CA2242009267MC1Rc.18C= (p.Ser6=)
16g.89919276C>GCA497380486MC1Rc.18C>G (p.Ser6=)
gnomAD v4
16g.89919276C>TCA286607326MC1Rc.18C>T (p.Ser6=)
dbSNP gnomAD v3 gnomAD v4
16g.89919277C>ACA397458937MC1Rc.19C>A (p.Gln7Lys)
gnomAD v4
16g.89919277C=CA2242009268MC1Rc.19C= (p.Gln7=)
16g.89919277C>GCA397458938MC1Rc.19C>G (p.Gln7Glu)
16g.89919277C>TCA8255459MC1Rc.19C>T (p.Gln7Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919278A=CA2242009269MC1Rc.20A= (p.Gln7=)
16g.89919278A>CCA397458942MC1Rc.20A>C (p.Gln7Pro)
16g.89919278A>GCA8255460MC1Rc.20A>G (p.Gln7Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919278A>TCA397458946MC1Rc.20A>T (p.Gln7Leu)
16g.89919279G>ACA497380487MC1Rc.21G>A (p.Gln7=)
16g.89919279G>CCA397458947MC1Rc.21G>C (p.Gln7His)
16g.89919279G=CA2242009270MC1Rc.21G= (p.Gln7=)
16g.89919279G>TCA397458950MC1Rc.21G>T (p.Gln7His)
dbSNP gnomAD v3 gnomAD v4
16g.89919280A>CCA497380491MC1Rc.22A>C (p.Arg8=)
16g.89919280A>GCA397458952MC1Rc.22A>G (p.Arg8Gly)
16g.89919280A>TCA397458954MC1Rc.22A>T (p.Arg8Ter)
16g.89919283_89919285delCA2580613951MC1Rc.25_27del (p.Arg9del)
ClinVar
16g.89919281G>ACA8255461MC1Rc.23G>A (p.Arg8Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919281G>CCA397458958MC1Rc.23G>C (p.Arg8Thr)
16g.89919281G=CA2242009271MC1Rc.23G= (p.Arg8=)
16g.89919281G>TCA397458960MC1Rc.23G>T (p.Arg8Ile)
16g.89919282A>CCA397458962MC1Rc.24A>C (p.Arg8Ser)
16g.89919282A>GCA497380495MC1Rc.24A>G (p.Arg8=)
gnomAD v4
16g.89919282A>TCA397458965MC1Rc.24A>T (p.Arg8Ser)
16g.89919283A>CCA497380497MC1Rc.25A>C (p.Arg9=)
16g.89919283A>GCA397458967MC1Rc.25A>G (p.Arg9Gly)
16g.89919283A>TCA397458969MC1Rc.25A>T (p.Arg9Ter)
16g.89919284G>ACA397458972MC1Rc.26G>A (p.Arg9Lys)
16g.89919284G>CCA397458974MC1Rc.26G>C (p.Arg9Thr)
dbSNP
16g.89919284G=CA2242009273MC1Rc.26G= (p.Arg9=)
16g.89919284G>TCA397458975MC1Rc.26G>T (p.Arg9Ile)
gnomAD v4
16g.89919284_89919301delinsGACTTCTGGGCTCCCTCACA2242009272MC1Rc.26_43delinsGACTTCTGGGCTCCCTCA (p.Arg9=)
16g.89919285A>CCA397458978MC1Rc.27A>C (p.Arg9Ser)
16g.89919285A>GCA497380500MC1Rc.27A>G (p.Arg9=)
16g.89919285A>TCA397458980MC1Rc.27A>T (p.Arg9Ser)
16g.89919288_89919304delCA8255462MC1Rc.30_46del (p.Leu11HisfsTer26)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919286C>ACA397458983MC1Rc.28C>A (p.Leu10Ile)
16g.89919286C>GCA397458986MC1Rc.28C>G (p.Leu10Val)
16g.89919286C>TCA397458987MC1Rc.28C>T (p.Leu10Phe)
gnomAD v4
16g.89919287T>ACA397458993MC1Rc.29T>A (p.Leu10His)
16g.89919287T>CCA397458990MC1Rc.29T>C (p.Leu10Pro)
gnomAD v4
16g.89919287T>GCA397458989MC1Rc.29T>G (p.Leu10Arg)
16g.89919288T>ACA497380505MC1Rc.30T>A (p.Leu10=)
16g.89919288T>CCA497380507MC1Rc.30T>C (p.Leu10=)
dbSNP
16g.89919288T>GCA8255463MC1Rc.30T>G (p.Leu10=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919288T=CA2242009274MC1Rc.30T= (p.Leu10=)
16g.89919289C>ACA397458995MC1Rc.31C>A (p.Leu11Met)
16g.89919289C>GCA397458997MC1Rc.31C>G (p.Leu11Val)
16g.89919289C>TCA497380509MC1Rc.31C>T (p.Leu11=)
16g.89919290T>ACA397459000MC1Rc.32T>A (p.Leu11Gln)
16g.89919290T>CCA397459003MC1Rc.32T>C (p.Leu11Pro)
dbSNP gnomAD v4
16g.89919290T>GCA397459004MC1Rc.32T>G (p.Leu11Arg)
16g.89919290T=CA2242009275MC1Rc.32T= (p.Leu11=)
16g.89919291G>ACA497380517MC1Rc.33G>A (p.Leu11=)
dbSNP gnomAD v2 gnomAD v4
16g.89919291G>CCA497380518MC1Rc.33G>C (p.Leu11=)
gnomAD v4
16g.89919291G=CA2242009276MC1Rc.33G= (p.Leu11=)
16g.89919291G>TCA497380520MC1Rc.33G>T (p.Leu11=)
16g.89919292G>ACA397459007MC1Rc.34G>A (p.Gly12Ser)
16g.89919292G>CCA397459009MC1Rc.34G>C (p.Gly12Arg)
16g.89919292G>TCA397459011MC1Rc.34G>T (p.Gly12Cys)
16g.89919293G>ACA8255464MC1Rc.35G>A (p.Gly12Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919293G>CCA286607333MC1Rc.35G>C (p.Gly12Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919293G=CA2242009277MC1Rc.35G= (p.Gly12=)
16g.89919293G>TCA397459017MC1Rc.35G>T (p.Gly12Val)
16g.89919294C>ACA286607336MC1Rc.36C>A (p.Gly12=)
dbSNP gnomAD v4
16g.89919294C=CA2242009278MC1Rc.36C= (p.Gly12=)
16g.89919294C>GCA497380531MC1Rc.36C>G (p.Gly12=)
16g.89919294C>TCA497380532MC1Rc.36C>T (p.Gly12=)
16g.89919295T>ACA397459027MC1Rc.37T>A (p.Ser13Thr)
16g.89919295T>CCA397459025MC1Rc.37T>C (p.Ser13Pro)
16g.89919295T>GCA397459020MC1Rc.37T>G (p.Ser13Ala)
16g.89919296C>ACA397459030MC1Rc.38C>A (p.Ser13Tyr)
16g.89919296C>GCA397459035MC1Rc.38C>G (p.Ser13Cys)
16g.89919296C>TCA397459037MC1Rc.38C>T (p.Ser13Phe)
gnomAD v4
16g.89919297C>ACA497380538MC1Rc.39C>A (p.Ser13=)
gnomAD v4
16g.89919297C=CA2242009279MC1Rc.39C= (p.Ser13=)
16g.89919297C>GCA497380539MC1Rc.39C>G (p.Ser13=)
16g.89919297C>TCA497380540MC1Rc.39C>T (p.Ser13=)
dbSNP gnomAD v3 gnomAD v4
16g.89919298C>ACA397459039MC1Rc.40C>A (p.Leu14Ile)
gnomAD v4
16g.89919298C=CA2242009280MC1Rc.40C= (p.Leu14=)
16g.89919298C>GCA397459042MC1Rc.40C>G (p.Leu14Val)
16g.89919298C>TCA8255465MC1Rc.40C>T (p.Leu14Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919299T>ACA397459045MC1Rc.41T>A (p.Leu14His)
16g.89919299T>CCA397459046MC1Rc.41T>C (p.Leu14Pro)
16g.89919299T>GCA397459048MC1Rc.41T>G (p.Leu14Arg)
16g.89919300C>ACA497380542MC1Rc.42C>A (p.Leu14=)
dbSNP gnomAD v3 gnomAD v4
16g.89919300C=CA2242009281MC1Rc.42C= (p.Leu14=)
16g.89919300C>GCA497380543MC1Rc.42C>G (p.Leu14=)
gnomAD v4
16g.89919300C>TCA497380544MC1Rc.42C>T (p.Leu14=)
16g.89919301A>CCA397459051MC1Rc.43A>C (p.Asn15His)
16g.89919301A>GCA397459053MC1Rc.43A>G (p.Asn15Asp)
16g.89919301A>TCA397459056MC1Rc.43A>T (p.Asn15Tyr)
16g.89919302A=CA2242009282MC1Rc.44A= (p.Asn15=)
16g.89919302A>CCA8255467MC1Rc.44A>C (p.Asn15Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919302A>GCA8255466MC1Rc.44A>G (p.Asn15Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919302A>TCA397459059MC1Rc.44A>T (p.Asn15Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89919303C>ACA397459064MC1Rc.45C>A (p.Asn15Lys)
16g.89919303C=CA2242009283MC1Rc.45C= (p.Asn15=)
16g.89919303C>GCA397459065MC1Rc.45C>G (p.Asn15Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919303C>TCA497380547MC1Rc.45C>T (p.Asn15=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919304T>ACA397459068MC1Rc.46T>A (p.Ser16Thr)
16g.89919304T>CCA397459072MC1Rc.46T>C (p.Ser16Pro)
16g.89919304T>GCA397459074MC1Rc.46T>G (p.Ser16Ala)
16g.89919305C>ACA397459075MC1Rc.47C>A (p.Ser16Tyr)
16g.89919305C=CA2242009284MC1Rc.47C= (p.Ser16=)
16g.89919305C>GCA397459078MC1Rc.47C>G (p.Ser16Cys)
gnomAD v4
16g.89919305C>TCA397459081MC1Rc.47C>T (p.Ser16Phe)
dbSNP gnomAD v3 gnomAD v4
16g.89919306C>ACA497380550MC1Rc.48C>A (p.Ser16=)
16g.89919306C=CA2242009285MC1Rc.48C= (p.Ser16=)
16g.89919306C>GCA497380552MC1Rc.48C>G (p.Ser16=)
16g.89919306C>TCA497380554MC1Rc.48C>T (p.Ser16=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919307A=CA2242009286MC1Rc.49A= (p.Thr17=)
16g.89919307A>CCA397459083MC1Rc.49A>C (p.Thr17Pro)
dbSNP
16g.89919307A>GCA397459085MC1Rc.49A>G (p.Thr17Ala)
16g.89919307A>TCA397459087MC1Rc.49A>T (p.Thr17Ser)
16g.89919307_89919308delinsACCA2242009287MC1Rc.49_50delinsAC (p.Thr17=)
16g.89919308C>ACA8255468MC1Rc.50C>A (p.Thr17Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919308C=CA2242009288MC1Rc.50C= (p.Thr17=)
16g.89919308C>GCA397459091MC1Rc.50C>G (p.Thr17Ser)
16g.89919308C>TCA397459094MC1Rc.50C>T (p.Thr17Ile)
dbSNP gnomAD v2
16g.89919312delCA1139665004MC1Rc.54del (p.Thr19GlnfsTer?)
ClinVar dbSNP
16g.89919309C>ACA497380560MC1Rc.51C>A (p.Thr17=)
16g.89919309C=CA2242009289MC1Rc.51C= (p.Thr17=)
16g.89919309C>GCA8255469MC1Rc.51C>G (p.Thr17=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919309C>TCA497380561MC1Rc.51C>T (p.Thr17=)
16g.89919310C>ACA397459103MC1Rc.52C>A (p.Pro18Thr)
16g.89919310C=CA2242009290MC1Rc.52C= (p.Pro18=)
16g.89919310C>GCA8255470MC1Rc.52C>G (p.Pro18Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919310C>TCA397459098MC1Rc.52C>T (p.Pro18Ser)
dbSNP gnomAD v3 gnomAD v4
16g.89919311C>ACA397459105MC1Rc.53C>A (p.Pro18His)
gnomAD v4
16g.89919311C>GCA397459107MC1Rc.53C>G (p.Pro18Arg)
gnomAD v4
16g.89919311C>TCA397459110MC1Rc.53C>T (p.Pro18Leu)
gnomAD v4
16g.89919312C>ACA497380568MC1Rc.54C>A (p.Pro18=)
dbSNP gnomAD v2 gnomAD v4
16g.89919312C=CA2242009291MC1Rc.54C= (p.Pro18=)
16g.89919312C>GCA497380569MC1Rc.54C>G (p.Pro18=)
dbSNP gnomAD v3 gnomAD v4
16g.89919312C>TCA497380570MC1Rc.54C>T (p.Pro18=)
dbSNP gnomAD v2 gnomAD v4
16g.89919313A=CA2242009292MC1Rc.55A= (p.Thr19=)
16g.89919313A>CCA397459112MC1Rc.55A>C (p.Thr19Pro)
16g.89919313A>GCA397459114MC1Rc.55A>G (p.Thr19Ala)
dbSNP gnomAD v3 gnomAD v4
16g.89919313A>TCA397459115MC1Rc.55A>T (p.Thr19Ser)
16g.89919314C>ACA397459116MC1Rc.56C>A (p.Thr19Lys)
16g.89919314C=CA2242009293MC1Rc.56C= (p.Thr19=)
16g.89919314C>GCA397459117MC1Rc.56C>G (p.Thr19Arg)
16g.89919314C>TCA8255471MC1Rc.56C>T (p.Thr19Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919315A>CCA497380572MC1Rc.57A>C (p.Thr19=)
16g.89919315A>GCA497380573MC1Rc.57A>G (p.Thr19=)
16g.89919315A>TCA497380574MC1Rc.57A>T (p.Thr19=)
16g.89919316G>ACA397459118MC1Rc.58G>A (p.Ala20Thr)
16g.89919316G>CCA397459119MC1Rc.58G>C (p.Ala20Pro)
16g.89919316G>TCA397459120MC1Rc.58G>T (p.Ala20Ser)
16g.89919317C>ACA397459124MC1Rc.59C>A (p.Ala20Asp)
16g.89919317C=CA2242009294MC1Rc.59C= (p.Ala20=)
16g.89919317C>GCA8255472MC1Rc.59C>G (p.Ala20Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919317C>TCA397459122MC1Rc.59C>T (p.Ala20Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919318C>ACA497380580MC1Rc.60C>A (p.Ala20=)
16g.89919318C>GCA497380581MC1Rc.60C>G (p.Ala20=)
16g.89919318C>TCA497380582MC1Rc.60C>T (p.Ala20=)
16g.89919319A>CCA397459135MC1Rc.61A>C (p.Ile21Leu)
16g.89919319A>GCA397459128MC1Rc.61A>G (p.Ile21Val)
dbSNP gnomAD v4
16g.89919319A>TCA397459133MC1Rc.61A>T (p.Ile21Phe)
16g.89919320delCA2576103978MC1Rc.62del (p.Ile21ThrfsTer?)
16g.89919320T>ACA397459137MC1Rc.62T>A (p.Ile21Asn)
16g.89919320T>CCA397459139MC1Rc.62T>C (p.Ile21Thr)
16g.89919320T>GCA397459140MC1Rc.62T>G (p.Ile21Ser)
16g.89919321C>ACA497380584MC1Rc.63C>A (p.Ile21=)
16g.89919321C>GCA397459142MC1Rc.63C>G (p.Ile21Met)
16g.89919321C>TCA497380586MC1Rc.63C>T (p.Ile21=)
ClinVar dbSNP
16g.89919322C>ACA397459145MC1Rc.64C>A (p.Pro22Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919322C=CA2242009295MC1Rc.64C= (p.Pro22=)
16g.89919322C>GCA397459148MC1Rc.64C>G (p.Pro22Ala)
16g.89919322C>TCA397459149MC1Rc.64C>T (p.Pro22Ser)
16g.89919323C>ACA397459151MC1Rc.65C>A (p.Pro22His)
16g.89919323C=CA2242009297MC1Rc.65C= (p.Pro22=)
16g.89919323C>GCA397459153MC1Rc.65C>G (p.Pro22Arg)
16g.89919323C>TCA397459155MC1Rc.65C>T (p.Pro22Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAACA2242009296MC1Rc.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=)
16g.89919324C>ACA497380595MC1Rc.66C>A (p.Pro22=)
16g.89919324C=CA2242009298MC1Rc.66C= (p.Pro22=)
16g.89919324C>GCA497380599MC1Rc.66C>G (p.Pro22=)
16g.89919324C>TCA8255473MC1Rc.66C>T (p.Pro22=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919328_89919348delCA624455298MC1Rc.70_90del (p.Leu24_Gln30del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919325C>ACA397459160MC1Rc.67C>A (p.Gln23Lys)
16g.89919325C=CA2242009299MC1Rc.67C= (p.Gln23=)
16g.89919325C>GCA397459159MC1Rc.67C>G (p.Gln23Glu)
16g.89919325C>TCA8255474MC1Rc.67C>T (p.Gln23Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919326_89919328delCA2635064789MC1Rc.68_70del (p.Gln23del)
gnomAD v4
16g.89919326A=CA2242009300MC1Rc.68A= (p.Gln23=)
16g.89919326A>CCA397459163MC1Rc.68A>C (p.Gln23Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919326A>GCA397459165MC1Rc.68A>G (p.Gln23Arg)
16g.89919326A>TCA397459169MC1Rc.68A>T (p.Gln23Leu)
16g.89919327G>ACA497380604MC1Rc.69G>A (p.Gln23=)
gnomAD v3 gnomAD v4
16g.89919327G>CCA397459170MC1Rc.69G>C (p.Gln23His)
gnomAD v4
16g.89919327G>TCA397459173MC1Rc.69G>T (p.Gln23His)
gnomAD v4
16g.89919328C>ACA397459176MC1Rc.70C>A (p.Leu24Met)
16g.89919328C>GCA397459180MC1Rc.70C>G (p.Leu24Val)
16g.89919328C>TCA497380605MC1Rc.70C>T (p.Leu24=)
16g.89919329T>ACA397459183MC1Rc.71T>A (p.Leu24Gln)
16g.89919329T>CCA397459184MC1Rc.71T>C (p.Leu24Pro)
16g.89919329T>GCA397459185MC1Rc.71T>G (p.Leu24Arg)
gnomAD v4
16g.89919330G>ACA497380608MC1Rc.72G>A (p.Leu24=)
16g.89919330G>CCA497380610MC1Rc.72G>C (p.Leu24=)
16g.89919330G>TCA497380612MC1Rc.72G>T (p.Leu24=)
16g.89919333dupCA2576103980MC1Rc.75dup (p.Leu26AlafsTer17)
16g.89919331G>ACA397459188MC1Rc.73G>A (p.Gly25Arg)
16g.89919331G>CCA397459190MC1Rc.73G>C (p.Gly25Arg)
gnomAD v4
16g.89919331G=CA2242009301MC1Rc.73G= (p.Gly25=)
16g.89919331G>TCA8255475MC1Rc.73G>T (p.Gly25Trp)
dbSNP ExAC
16g.89919332G>ACA8255476MC1Rc.74G>A (p.Gly25Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919332G>CCA397459194MC1Rc.74G>C (p.Gly25Ala)
dbSNP gnomAD v2 gnomAD v4
16g.89919332G=CA2242009302MC1Rc.74G= (p.Gly25=)
16g.89919332G>TCA397459193MC1Rc.74G>T (p.Gly25Val)
16g.89919333G>ACA497380614MC1Rc.75G>A (p.Gly25=)
16g.89919333G>CCA497380615MC1Rc.75G>C (p.Gly25=)
16g.89919333G=CA2242009303MC1Rc.75G= (p.Gly25=)
16g.89919333G>TCA8255477MC1Rc.75G>T (p.Gly25=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919334C>ACA286607348MC1Rc.76C>A (p.Leu26Met)
dbSNP gnomAD v4
16g.89919334C=CA2242009304MC1Rc.76C= (p.Leu26=)
16g.89919334C>GCA286607350MC1Rc.76C>G (p.Leu26Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919334C>TCA497380618MC1Rc.76C>T (p.Leu26=)
16g.89919335T>ACA397459198MC1Rc.77T>A (p.Leu26Gln)
16g.89919335T>CCA397459199MC1Rc.77T>C (p.Leu26Pro)
16g.89919335T>GCA397459201MC1Rc.77T>G (p.Leu26Arg)
16g.89919336G>ACA497380619MC1Rc.78G>A (p.Leu26=)
16g.89919336G>CCA497380621MC1Rc.78G>C (p.Leu26=)
16g.89919336G>TCA497380623MC1Rc.78G>T (p.Leu26=)
16g.89919337G>ACA397459203MC1Rc.79G>A (p.Ala27Thr)
16g.89919337G>CCA397459205MC1Rc.79G>C (p.Ala27Pro)
16g.89919337G>TCA397459207MC1Rc.79G>T (p.Ala27Ser)
16g.89919338C>ACA8255478MC1Rc.80C>A (p.Ala27Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919338C=CA2242009305MC1Rc.80C= (p.Ala27=)
16g.89919338C>GCA397459211MC1Rc.80C>G (p.Ala27Gly)
16g.89919338C>TCA397459213MC1Rc.80C>T (p.Ala27Val)
gnomAD v4
16g.89919339T>ACA497380638MC1Rc.81T>A (p.Ala27=)
16g.89919339T>CCA497380639MC1Rc.81T>C (p.Ala27=)
16g.89919339T>GCA497380640MC1Rc.81T>G (p.Ala27=)
16g.89919340G>ACA8255479MC1Rc.82G>A (p.Ala28Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919340G>CCA397459215MC1Rc.82G>C (p.Ala28Pro)
gnomAD v4
16g.89919340G=CA2242009306MC1Rc.82G= (p.Ala28=)
16g.89919340G>TCA397459217MC1Rc.82G>T (p.Ala28Ser)
16g.89919341C>ACA397459221MC1Rc.83C>A (p.Ala28Asp)
16g.89919341C>GCA397459224MC1Rc.83C>G (p.Ala28Gly)
16g.89919341C>TCA397459223MC1Rc.83C>T (p.Ala28Val)
16g.89919341_89919342insACA286607354MC1Rc.83_84insA (p.Asn29GlnfsTer14)
16g.89919342C>ACA497380645MC1Rc.84C>A (p.Ala28=)
16g.89919342C=CA2242009307MC1Rc.84C= (p.Ala28=)
16g.89919342C>GCA497380646MC1Rc.84C>G (p.Ala28=)
16g.89919342C>TCA497380647MC1Rc.84C>T (p.Ala28=)
gnomAD v4
16g.89919343A=CA2242009308MC1Rc.85A= (p.Asn29=)
16g.89919343A>CCA397459228MC1Rc.85A>C (p.Asn29His)
16g.89919343A>GCA286607357MC1Rc.85A>G (p.Asn29Asp)
dbSNP
16g.89919343A>TCA397459230MC1Rc.85A>T (p.Asn29Tyr)
16g.89919344dupCA8255480MC1Rc.86dup (p.Asn29LysfsTer14)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919344delCA2732931170MC1Rc.86del (p.Asn29ThrfsTer23)
dbSNP
16g.89919344A=CA2242009309MC1Rc.86A= (p.Asn29=)
16g.89919344A>CCA397459233MC1Rc.86A>C (p.Asn29Thr)
16g.89919344A>GCA397459235MC1Rc.86A>G (p.Asn29Ser)
ClinVar dbSNP gnomAD v4
16g.89919344A>TCA397459238MC1Rc.86A>T (p.Asn29Ile)
16g.89919345C>ACA397459241MC1Rc.87C>A (p.Asn29Lys)
gnomAD v4
16g.89919345C=CA2242009310MC1Rc.87C= (p.Asn29=)
16g.89919345C>GCA286607359MC1Rc.87C>G (p.Asn29Lys)
dbSNP gnomAD v2 gnomAD v4
16g.89919345C>TCA497380655MC1Rc.87C>T (p.Asn29=)
16g.89919346C>ACA397459245MC1Rc.88C>A (p.Gln30Lys)
gnomAD v4
16g.89919346C=CA2242009311MC1Rc.88C= (p.Gln30=)
16g.89919346C>GCA397459247MC1Rc.88C>G (p.Gln30Glu)
16g.89919346C>TCA8255481MC1Rc.88C>T (p.Gln30Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919347A>CCA397459249MC1Rc.89A>C (p.Gln30Pro)
16g.89919347A>GCA397459251MC1Rc.89A>G (p.Gln30Arg)
gnomAD v4
16g.89919347A>TCA397459254MC1Rc.89A>T (p.Gln30Leu)
16g.89919348G>ACA497380657MC1Rc.90G>A (p.Gln30=)
16g.89919348G>CCA397459257MC1Rc.90G>C (p.Gln30His)
dbSNP gnomAD v3 gnomAD v4
16g.89919348G=CA2242009312MC1Rc.90G= (p.Gln30=)
16g.89919348G>TCA397459258MC1Rc.90G>T (p.Gln30His)
dbSNP
16g.89919349A=CA2242009313MC1Rc.91A= (p.Thr31=)
16g.89919349A>CCA397459266MC1Rc.91A>C (p.Thr31Pro)
16g.89919349A>GCA397459264MC1Rc.91A>G (p.Thr31Ala)
dbSNP gnomAD v2 gnomAD v4
16g.89919349A>TCA397459261MC1Rc.91A>T (p.Thr31Ser)
16g.89919350C>ACA397459269MC1Rc.92C>A (p.Thr31Lys)
16g.89919350C>GCA397459271MC1Rc.92C>G (p.Thr31Arg)
16g.89919350C>TCA397459273MC1Rc.92C>T (p.Thr31Ile)
gnomAD v4
16g.89919351A>CCA497380663MC1Rc.93A>C (p.Thr31=)
16g.89919351A>GCA497380665MC1Rc.93A>G (p.Thr31=)
16g.89919351A>TCA497380664MC1Rc.93A>T (p.Thr31=)
16g.89919351_89919352delinsAGCA2242009314MC1Rc.93_94delinsAG (p.Thr31=)
16g.89919352G>ACA397459277MC1Rc.94G>A (p.Gly32Arg)
16g.89919352G>CCA397459280MC1Rc.94G>C (p.Gly32Arg)
16g.89919352G>TCA397459283MC1Rc.94G>T (p.Gly32Ter)
16g.89919353delCA2242009315MC1Rc.95del (p.Gly32GlufsTer20)
dbSNP
16g.89919354_89919360delCA2580092412MC1Rc.96_102del (p.Arg34TrpfsTer16)
ClinVar
16g.89919353G>ACA397459284MC1Rc.95G>A (p.Gly32Glu)
16g.89919353G>CCA397459289MC1Rc.95G>C (p.Gly32Ala)
16g.89919353G>TCA397459286MC1Rc.95G>T (p.Gly32Val)
16g.89919354A>CCA497380669MC1Rc.96A>C (p.Gly32=)
16g.89919354A>GCA497380671MC1Rc.96A>G (p.Gly32=)
gnomAD v4
16g.89919354A>TCA497380672MC1Rc.96A>T (p.Gly32=)
16g.89919355G>ACA397459291MC1Rc.97G>A (p.Ala33Thr)
gnomAD v4
16g.89919355G>CCA10644666MC1Rc.97G>C (p.Ala33Pro)
ClinVar dbSNP
16g.89919355G=CA2242009316MC1Rc.97G= (p.Ala33=)
16g.89919355G>TCA397459294MC1Rc.97G>T (p.Ala33Ser)
16g.89919356C>ACA397459295MC1Rc.98C>A (p.Ala33Asp)
gnomAD v4
16g.89919356C=CA2242009317MC1Rc.98C= (p.Ala33=)
16g.89919356C>GCA397459297MC1Rc.98C>G (p.Ala33Gly)
gnomAD v4
16g.89919356C>TCA397459298MC1Rc.98C>T (p.Ala33Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919357C>ACA497380674MC1Rc.99C>A (p.Ala33=)
gnomAD v4
16g.89919357C>GCA497380675MC1Rc.99C>G (p.Ala33=)
16g.89919357C>TCA497380676MC1Rc.99C>T (p.Ala33=)
16g.89919358C>ACA497380678MC1Rc.100C>A (p.Arg34=)
ClinVar dbSNP
16g.89919358C=CA2242009318MC1Rc.100C= (p.Arg34=)
16g.89919358C>GCA397459300MC1Rc.100C>G (p.Arg34Gly)
16g.89919358C>TCA8255482MC1Rc.100C>T (p.Arg34Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919359G>ACA8255483MC1Rc.101G>A (p.Arg34Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919359G>CCA397459312MC1Rc.101G>C (p.Arg34Pro)
16g.89919359G=CA2242009319MC1Rc.101G= (p.Arg34=)
16g.89919359G>TCA397459313MC1Rc.101G>T (p.Arg34Leu)
16g.89919360G>ACA497380681MC1Rc.102G>A (p.Arg34=)
16g.89919360G>CCA8255484MC1Rc.102G>C (p.Arg34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919360G=CA2242009320MC1Rc.102G= (p.Arg34=)
16g.89919360G>TCA497380683MC1Rc.102G>T (p.Arg34=)
16g.89919361T>ACA397459319MC1Rc.103T>A (p.Cys35Ser)
16g.89919361T>CCA397459324MC1Rc.103T>C (p.Cys35Arg)
16g.89919361T>GCA397459322MC1Rc.103T>G (p.Cys35Gly)
16g.89919362G>ACA8255485MC1Rc.104G>A (p.Cys35Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919362G>CCA397459329MC1Rc.104G>C (p.Cys35Ser)
16g.89919362G=CA2242009321MC1Rc.104G= (p.Cys35=)
16g.89919362G>TCA397459331MC1Rc.104G>T (p.Cys35Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919363C>ACA397459336MC1Rc.105C>A (p.Cys35Ter)
16g.89919363C=CA2242009322MC1Rc.105C= (p.Cys35=)
16g.89919363C>GCA397459338MC1Rc.105C>G (p.Cys35Trp)
16g.89919363C>TCA8255486MC1Rc.105C>T (p.Cys35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919364C>ACA397459342MC1Rc.106C>A (p.Leu36Met)
gnomAD v4
16g.89919364C=CA2242009323MC1Rc.106C= (p.Leu36=)
16g.89919364C>GCA397459340MC1Rc.106C>G (p.Leu36Val)
ClinVar dbSNP gnomAD v4
16g.89919364C>TCA497380691MC1Rc.106C>T (p.Leu36=)
dbSNP gnomAD v4
16g.89919365T>ACA397459344MC1Rc.107T>A (p.Leu36Gln)
16g.89919365T>CCA397459345MC1Rc.107T>C (p.Leu36Pro)
gnomAD v4
16g.89919365T>GCA397459351MC1Rc.107T>G (p.Leu36Arg)
16g.89919366G>ACA497380697MC1Rc.108G>A (p.Leu36=)
16g.89919366G>CCA497380699MC1Rc.108G>C (p.Leu36=)
16g.89919366G>TCA497380701MC1Rc.108G>T (p.Leu36=)
16g.89919367G>ACA397459353MC1Rc.109G>A (p.Glu37Lys)
16g.89919367G>CCA397459356MC1Rc.109G>C (p.Glu37Gln)
16g.89919367G>TCA397459359MC1Rc.109G>T (p.Glu37Ter)
16g.89919367_89919376delCA2635064982MC1Rc.109_118del (p.Glu37SerfsTer12)
gnomAD v4
16g.89919368A>CCA397459362MC1Rc.110A>C (p.Glu37Ala)
16g.89919368A>GCA397459360MC1Rc.110A>G (p.Glu37Gly)
16g.89919368A>TCA397459361MC1Rc.110A>T (p.Glu37Val)

Number of alleles fetched