Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
16g.89919369G>ACA8255487MC1Rc.111G>A (p.Glu37=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919369G>CCA397459363MC1Rc.111G>C (p.Glu37Asp)
16g.89919369G=CA2242009324MC1Rc.111G= (p.Glu37=)
16g.89919369G>TCA397459364MC1Rc.111G>T (p.Glu37Asp)
16g.89919370G>ACA8255488MC1Rc.112G>A (p.Val38Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919370G>CCA397459365MC1Rc.112G>C (p.Val38Leu)
16g.89919370G=CA2242009325MC1Rc.112G= (p.Val38=)
16g.89919370G>TCA397459366MC1Rc.112G>T (p.Val38Leu)
16g.89919371T>ACA397459368MC1Rc.113T>A (p.Val38Glu)
16g.89919371T>CCA397459369MC1Rc.113T>C (p.Val38Ala)
gnomAD v4
16g.89919371T>GCA397459370MC1Rc.113T>G (p.Val38Gly)
16g.89919372G>ACA497380710MC1Rc.114G>A (p.Val38=)
dbSNP gnomAD v4
16g.89919372G>CCA497380712MC1Rc.114G>C (p.Val38=)
16g.89919372G=CA2242009326MC1Rc.114G= (p.Val38=)
16g.89919372G>TCA497380711MC1Rc.114G>T (p.Val38=)
16g.89919373T>ACA397459372MC1Rc.115T>A (p.Ser39Thr)
16g.89919373T>CCA397459374MC1Rc.115T>C (p.Ser39Pro)
16g.89919373T>GCA397459376MC1Rc.115T>G (p.Ser39Ala)
16g.89919373T=CA2242009327MC1Rc.115T= (p.Ser39=)
16g.89919374C>ACA397459381MC1Rc.116C>A (p.Ser39Tyr)
16g.89919374C>GCA397459377MC1Rc.116C>G (p.Ser39Cys)
16g.89919374C>TCA397459379MC1Rc.116C>T (p.Ser39Phe)
16g.89919375dupCA8255489MC1Rc.117dup (p.Ile40HisfsTer3)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919375C>ACA497380717MC1Rc.117C>A (p.Ser39=)
gnomAD v4
16g.89919375C=CA2242009328MC1Rc.117C= (p.Ser39=)
16g.89919375C>GCA497380719MC1Rc.117C>G (p.Ser39=)
16g.89919375C>TCA286607370MC1Rc.117C>T (p.Ser39=)
dbSNP
16g.89919376A=CA2242009329MC1Rc.118A= (p.Ile40=)
16g.89919376A>CCA397459383MC1Rc.118A>C (p.Ile40Leu)
ClinVar dbSNP gnomAD v4
16g.89919376A>GCA397459385MC1Rc.118A>G (p.Ile40Val)
gnomAD v4
16g.89919376A>TCA397459387MC1Rc.118A>T (p.Ile40Phe)
16g.89919377T>ACA397459390MC1Rc.119T>A (p.Ile40Asn)
16g.89919377T>CCA8255490MC1Rc.119T>C (p.Ile40Thr)
dbSNP ExAC gnomAD v4
16g.89919377T>GCA397459394MC1Rc.119T>G (p.Ile40Ser)
16g.89919377T=CA2242009330MC1Rc.119T= (p.Ile40=)
16g.89919378C>ACA497380725MC1Rc.120C>A (p.Ile40=)
16g.89919378C=CA2242009331MC1Rc.120C= (p.Ile40=)
16g.89919378C>GCA397459396MC1Rc.120C>G (p.Ile40Met)
16g.89919378C>TCA497380727MC1Rc.120C>T (p.Ile40=)
ClinVar dbSNP gnomAD v4
16g.89919379T>ACA397459397MC1Rc.121T>A (p.Ser41Thr)
16g.89919379T>CCA397459399MC1Rc.121T>C (p.Ser41Pro)
dbSNP
16g.89919379T>GCA397459402MC1Rc.121T>G (p.Ser41Ala)
16g.89919380delCA2635065036MC1Rc.122del (p.Ser41LeufsTer11)
gnomAD v4
16g.89919380C>ACA8255492MC1Rc.122C>A (p.Ser41Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919380C=CA2242009332MC1Rc.122C= (p.Ser41=)
16g.89919380C>GCA8255491MC1Rc.122C>G (p.Ser41Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919380C>TCA397459405MC1Rc.122C>T (p.Ser41Phe)
16g.89919381T>ACA497380732MC1Rc.123T>A (p.Ser41=)
16g.89919381T>CCA497380733MC1Rc.123T>C (p.Ser41=)
16g.89919381T>GCA497380734MC1Rc.123T>G (p.Ser41=)
16g.89919381dupCA624455317MC1Rc.123dup (p.Asp42Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919382G>ACA397459411MC1Rc.124G>A (p.Asp42Asn)
gnomAD v4
16g.89919382G>CCA397459408MC1Rc.124G>C (p.Asp42His)
ClinVar dbSNP
16g.89919382G=CA2242009333MC1Rc.124G= (p.Asp42=)
16g.89919382G>TCA397459410MC1Rc.124G>T (p.Asp42Tyr)
16g.89919383A>CCA397459413MC1Rc.125A>C (p.Asp42Ala)
16g.89919383A>GCA397459415MC1Rc.125A>G (p.Asp42Gly)
16g.89919383A>TCA397459418MC1Rc.125A>T (p.Asp42Val)
16g.89919384C>ACA397459420MC1Rc.126C>A (p.Asp42Glu)
16g.89919384C=CA2242009334MC1Rc.126C= (p.Asp42=)
16g.89919384C>GCA397459421MC1Rc.126C>G (p.Asp42Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919384C>TCA8255493MC1Rc.126C>T (p.Asp42=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919385G>ACA8255494MC1Rc.127G>A (p.Gly43Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919385G>CCA397459425MC1Rc.127G>C (p.Gly43Arg)
gnomAD v4
16g.89919385G=CA2242009335MC1Rc.127G= (p.Gly43=)
16g.89919385G>TCA397459427MC1Rc.127G>T (p.Gly43Trp)
16g.89919387dupCA2576103989MC1Rc.129dup (p.Leu44AlafsTer?)
16g.89919386G>ACA397459429MC1Rc.128G>A (p.Gly43Glu)
dbSNP gnomAD v4
16g.89919386G>CCA397459431MC1Rc.128G>C (p.Gly43Ala)
16g.89919386G=CA2242009336MC1Rc.128G= (p.Gly43=)
16g.89919386G>TCA397459433MC1Rc.128G>T (p.Gly43Val)
16g.89919387G>ACA497380741MC1Rc.129G>A (p.Gly43=)
16g.89919387G>CCA286607377MC1Rc.129G>C (p.Gly43=)
ClinVar dbSNP gnomAD v4
16g.89919387G=CA2242009337MC1Rc.129G= (p.Gly43=)
16g.89919387G>TCA497380742MC1Rc.129G>T (p.Gly43=)
gnomAD v4
16g.89919388C>ACA397459435MC1Rc.130C>A (p.Leu44Ile)
16g.89919388C=CA2242009338MC1Rc.130C= (p.Leu44=)
16g.89919388C>GCA8255495MC1Rc.130C>G (p.Leu44Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919388C>TCA397459437MC1Rc.130C>T (p.Leu44Phe)
gnomAD v4
16g.89919389T>ACA397459442MC1Rc.131T>A (p.Leu44His)
16g.89919389T>CCA397459449MC1Rc.131T>C (p.Leu44Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919389T>GCA397459443MC1Rc.131T>G (p.Leu44Arg)
16g.89919389T=CA2242009339MC1Rc.131T= (p.Leu44=)
16g.89919390C>ACA497380744MC1Rc.132C>A (p.Leu44=)
16g.89919390C=CA2242009340MC1Rc.132C= (p.Leu44=)
16g.89919390C>GCA497380745MC1Rc.132C>G (p.Leu44=)
dbSNP gnomAD v2 gnomAD v4
16g.89919390C>TCA497380746MC1Rc.132C>T (p.Leu44=)
gnomAD v4
16g.89919391T>ACA397459453MC1Rc.133T>A (p.Phe45Ile)
16g.89919391T>CCA8255496MC1Rc.133T>C (p.Phe45Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919391T>GCA397459457MC1Rc.133T>G (p.Phe45Val)
16g.89919391T=CA2242009341MC1Rc.133T= (p.Phe45=)
16g.89919392T>ACA397459460MC1Rc.134T>A (p.Phe45Tyr)
16g.89919392T>CCA397459462MC1Rc.134T>C (p.Phe45Ser)
16g.89919392T>GCA397459464MC1Rc.134T>G (p.Phe45Cys)
gnomAD v4
16g.89919392_89919393delinsTCCA2242009342MC1Rc.134_135delinsTC (p.Phe45=)
16g.89919393C>ACA397459468MC1Rc.135C>A (p.Phe45Leu)
16g.89919393C=CA2242009343MC1Rc.135C= (p.Phe45=)
16g.89919393C>GCA286607384MC1Rc.135C>G (p.Phe45Leu)
ClinVar dbSNP gnomAD v4
16g.89919393C>TCA8255497MC1Rc.135C>T (p.Phe45=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919394delCA286607381MC1Rc.136del (p.Leu46SerfsTer6)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919394C>ACA397459473MC1Rc.136C>A (p.Leu46Ile)
COSMIC
16g.89919394C=CA2242009344MC1Rc.136C= (p.Leu46=)
16g.89919394C>GCA8255498MC1Rc.136C>G (p.Leu46Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919394C>TCA286607389MC1Rc.136C>T (p.Leu46Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919395T>ACA397459484MC1Rc.137T>A (p.Leu46His)
16g.89919395T>CCA397459479MC1Rc.137T>C (p.Leu46Pro)
gnomAD v4
16g.89919395T>GCA397459482MC1Rc.137T>G (p.Leu46Arg)
16g.89919396C>ACA497380768MC1Rc.138C>A (p.Leu46=)
16g.89919396C=CA2242009345MC1Rc.138C= (p.Leu46=)
16g.89919396C>GCA497380770MC1Rc.138C>G (p.Leu46=)
dbSNP gnomAD v2 gnomAD v4
16g.89919396C>TCA497380772MC1Rc.138C>T (p.Leu46=)
gnomAD v4
16g.89919397A=CA2242009346MC1Rc.139A= (p.Ser47=)
16g.89919397A>CCA397459486MC1Rc.139A>C (p.Ser47Arg)
16g.89919397A>GCA397459488MC1Rc.139A>G (p.Ser47Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919397A>TCA397459490MC1Rc.139A>T (p.Ser47Cys)
dbSNP
16g.89919398G>ACA397459493MC1Rc.140G>A (p.Ser47Asn)
16g.89919398G>CCA397459495MC1Rc.140G>C (p.Ser47Thr)
16g.89919398G=CA2242009347MC1Rc.140G= (p.Ser47=)
16g.89919398G>TCA8255499MC1Rc.140G>T (p.Ser47Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919399C>ACA397459499MC1Rc.141C>A (p.Ser47Arg)
gnomAD v4
16g.89919399C>GCA397459508MC1Rc.141C>G (p.Ser47Arg)
16g.89919399C>TCA497380794MC1Rc.141C>T (p.Ser47=)
gnomAD v4
16g.89919400C>ACA397459511MC1Rc.142C>A (p.Leu48Met)
16g.89919400C=CA2242009348MC1Rc.142C= (p.Leu48=)
16g.89919400C>GCA397459513MC1Rc.142C>G (p.Leu48Val)
dbSNP
16g.89919400C>TCA497380796MC1Rc.142C>T (p.Leu48=)
gnomAD v4
16g.89919401T>ACA397459519MC1Rc.143T>A (p.Leu48Gln)
16g.89919401T>CCA286607392MC1Rc.143T>C (p.Leu48Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919401T>GCA397459516MC1Rc.143T>G (p.Leu48Arg)
dbSNP gnomAD v3 gnomAD v4
16g.89919401T=CA2242009349MC1Rc.143T= (p.Leu48=)
16g.89919402G>ACA497380810MC1Rc.144G>A (p.Leu48=)
16g.89919402G>CCA497380812MC1Rc.144G>C (p.Leu48=)
dbSNP gnomAD v2 gnomAD v4
16g.89919402G=CA2242009350MC1Rc.144G= (p.Leu48=)
16g.89919402G>TCA497380814MC1Rc.144G>T (p.Leu48=)
16g.89919403G>ACA397459521MC1Rc.145G>A (p.Gly49Arg)
16g.89919403G>CCA397459525MC1Rc.145G>C (p.Gly49Arg)
COSMIC
16g.89919403G>TCA397459527MC1Rc.145G>T (p.Gly49Trp)
dbSNP
16g.89919404G>ACA397459540MC1Rc.146G>A (p.Gly49Glu)
ClinVar dbSNP
16g.89919404G>CCA397459542MC1Rc.146G>C (p.Gly49Ala)
16g.89919404G=CA2242009351MC1Rc.146G= (p.Gly49=)
16g.89919404G>TCA8255500MC1Rc.146G>T (p.Gly49Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919405G>ACA8255501MC1Rc.147G>A (p.Gly49=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919405G>CCA497380822MC1Rc.147G>C (p.Gly49=)
16g.89919405G=CA2242009352MC1Rc.147G= (p.Gly49=)
16g.89919405G>TCA497380823MC1Rc.147G>T (p.Gly49=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919406C>ACA397459548MC1Rc.148C>A (p.Leu50Met)
16g.89919406C=CA2242009353MC1Rc.148C= (p.Leu50=)
16g.89919406C>GCA397459554MC1Rc.148C>G (p.Leu50Val)
16g.89919406C>TCA497380827MC1Rc.148C>T (p.Leu50=)
dbSNP
16g.89919407T>ACA397459557MC1Rc.149T>A (p.Leu50Gln)
16g.89919407T>CCA397459562MC1Rc.149T>C (p.Leu50Pro)
16g.89919407T>GCA8255502MC1Rc.149T>G (p.Leu50Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919407T=CA2242009354MC1Rc.149T= (p.Leu50=)
16g.89919408G>ACA286607397MC1Rc.150G>A (p.Leu50=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919408G>CCA497380833MC1Rc.150G>C (p.Leu50=)
16g.89919408G=CA2242009355MC1Rc.150G= (p.Leu50=)
16g.89919408G>TCA497380835MC1Rc.150G>T (p.Leu50=)
16g.89919409G>ACA397459582MC1Rc.151G>A (p.Val51Met)
gnomAD v4
16g.89919409G>CCA397459569MC1Rc.151G>C (p.Val51Leu)
16g.89919409G>TCA397459577MC1Rc.151G>T (p.Val51Leu)
16g.89919410delCA2635065158MC1Rc.152del (p.Val51GlyfsTer?)
gnomAD v4
16g.89919410T>ACA397459585MC1Rc.152T>A (p.Val51Glu)
16g.89919410T>CCA8255503MC1Rc.152T>C (p.Val51Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919410T>GCA397459590MC1Rc.152T>G (p.Val51Gly)
gnomAD v4
16g.89919410T=CA2242009356MC1Rc.152T= (p.Val51=)
16g.89919411G>ACA497380848MC1Rc.153G>A (p.Val51=)
16g.89919411G>CCA497380849MC1Rc.153G>C (p.Val51=)
16g.89919411G>TCA497380852MC1Rc.153G>T (p.Val51=)
16g.89919412A>CCA397459593MC1Rc.154A>C (p.Ser52Arg)
16g.89919412A>GCA397459595MC1Rc.154A>G (p.Ser52Gly)
16g.89919412A>TCA397459597MC1Rc.154A>T (p.Ser52Cys)
16g.89919413G>ACA397459598MC1Rc.155G>A (p.Ser52Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919413G>CCA397459601MC1Rc.155G>C (p.Ser52Thr)
16g.89919413G=CA2242009357MC1Rc.155G= (p.Ser52=)
16g.89919413G>TCA397459604MC1Rc.155G>T (p.Ser52Ile)
16g.89919414C>ACA397459606MC1Rc.156C>A (p.Ser52Arg)
16g.89919414C>GCA397459609MC1Rc.156C>G (p.Ser52Arg)
16g.89919414C>TCA497380867MC1Rc.156C>T (p.Ser52=)
16g.89919415T>ACA397459611MC1Rc.157T>A (p.Leu53Met)
16g.89919415T>CCA8255505MC1Rc.157T>C (p.Leu53=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919415T>GCA397459613MC1Rc.157T>G (p.Leu53Val)
16g.89919415T=CA2242009358MC1Rc.157T= (p.Leu53=)
16g.89919415_89919418delinsTTGGCA2242009359MC1Rc.157_160delinsTTGG (p.Leu53=)
16g.89919416T>ACA397459617MC1Rc.158T>A (p.Leu53Ter)
16g.89919416T>CCA397459622MC1Rc.158T>C (p.Leu53Ser)
16g.89919416T>GCA397459624MC1Rc.158T>G (p.Leu53Trp)
gnomAD v4
16g.89919419_89919421delCA8255504MC1Rc.161_163del (p.Val54del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919417G>ACA497380885MC1Rc.159G>A (p.Leu53=)
16g.89919417G>CCA8255506MC1Rc.159G>C (p.Leu53Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919417G=CA2242009360MC1Rc.159G= (p.Leu53=)
16g.89919417G>TCA397459626MC1Rc.159G>T (p.Leu53Phe)
16g.89919418G>ACA397459632MC1Rc.160G>A (p.Val54Met)
dbSNP
16g.89919418G>CCA397459630MC1Rc.160G>C (p.Val54Leu)
16g.89919418G=CA2242009361MC1Rc.160G= (p.Val54=)
16g.89919418G>TCA397459635MC1Rc.160G>T (p.Val54Leu)

Number of alleles fetched