Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.191375243C>ACA437637532CCDC50c.630C>A (p.Gly210=)
c.449-4916C>A (n.449-4916C>A)
3g.191375243C>GCA437637533CCDC50c.630C>G (p.Gly210=)
c.449-4916C>G (n.449-4916C>G)
3g.191375243C>TCA437637535CCDC50c.630C>T (p.Gly210=)
c.449-4916C>T (n.449-4916C>T)
gnomAD v4
3g.191375244A>CCA355764142CCDC50c.631A>C (p.Lys211Gln)
c.449-4915A>C (n.449-4915A>C)
3g.191375244A>GCA355764143CCDC50c.631A>G (p.Lys211Glu)
c.449-4915A>G (n.449-4915A>G)
3g.191375244A>TCA355764144CCDC50c.631A>T (p.Lys211Ter)
c.449-4915A>T (n.449-4915A>T)
3g.191375245A>CCA355764145CCDC50c.632A>C (p.Lys211Thr)
c.449-4914A>C (n.449-4914A>C)
3g.191375245A>GCA355764146CCDC50c.632A>G (p.Lys211Arg)
c.449-4914A>G (n.449-4914A>G)
3g.191375245A>TCA355764147CCDC50c.632A>T (p.Lys211Ile)
c.449-4914A>T (n.449-4914A>T)
3g.191375246A>CCA355764148CCDC50c.633A>C (p.Lys211Asn)
c.449-4913A>C (n.449-4913A>C)
3g.191375246A>GCA437637538CCDC50c.633A>G (p.Lys211=)
c.449-4913A>G (n.449-4913A>G)
3g.191375246A>TCA355764149CCDC50c.633A>T (p.Lys211Asn)
c.449-4913A>T (n.449-4913A>T)
3g.191375247G>ACA355764150CCDC50c.634G>A (p.Gly212Arg)
c.449-4912G>A (n.449-4912G>A)
3g.191375247G>CCA355764151CCDC50c.634G>C (p.Gly212Arg)
c.449-4912G>C (n.449-4912G>C)
3g.191375247G>TCA355764152CCDC50c.634G>T (p.Gly212Trp)
c.449-4912G>T (n.449-4912G>T)
3g.191375248G>ACA355764153CCDC50c.635G>A (p.Gly212Glu)
c.449-4911G>A (n.449-4911G>A)
gnomAD v4
3g.191375248G>CCA355764154CCDC50c.635G>C (p.Gly212Ala)
c.449-4911G>C (n.449-4911G>C)
3g.191375248G>TCA355764155CCDC50c.635G>T (p.Gly212Val)
c.449-4911G>T (n.449-4911G>T)
3g.191375249G>ACA437637542CCDC50c.636G>A (p.Gly212=)
c.449-4910G>A (n.449-4910G>A)
3g.191375249G>CCA437637540CCDC50c.636G>C (p.Gly212=)
c.449-4910G>C (n.449-4910G>C)
3g.191375249G>TCA437637541CCDC50c.636G>T (p.Gly212=)
c.449-4910G>T (n.449-4910G>T)
3g.191375250A=CA1429222193CCDC50c.637A= (p.Arg213=)
c.449-4909A= (n.449-4909A=)
3g.191375250A>CCA437637543CCDC50c.637A>C (p.Arg213=)
c.449-4909A>C (n.449-4909A>C)
3g.191375250A>GCA355764156CCDC50c.637A>G (p.Arg213Gly)
c.449-4909A>G (n.449-4909A>G)
3g.191375250A>TCA355764157CCDC50c.637A>T (p.Arg213Trp)
c.449-4909A>T (n.449-4909A>T)
gnomAD v4
3g.191375250_191375251insTCA548798677CCDC50c.637_638insT (p.Arg213MetfsTer7)
c.449-4909_449-4908insT (n.449-4909_449-4908insT)
dbSNP gnomAD v2
3g.191375251G>ACA355764158CCDC50c.638G>A (p.Arg213Lys)
c.449-4908G>A (n.449-4908G>A)
gnomAD v4
3g.191375251G>CCA355764159CCDC50c.638G>C (p.Arg213Thr)
c.449-4908G>C (n.449-4908G>C)
dbSNP
3g.191375251G=CA1429222194CCDC50c.638G= (p.Arg213=)
c.449-4908G= (n.449-4908G=)
3g.191375251G>TCA355764160CCDC50c.638G>T (p.Arg213Met)
c.449-4908G>T (n.449-4908G>T)
COSMIC
3g.191375252G>ACA437637545CCDC50c.639G>A (p.Arg213=)
c.449-4907G>A (n.449-4907G>A)
3g.191375252G>CCA355764161CCDC50c.639G>C (p.Arg213Ser)
c.449-4907G>C (n.449-4907G>C)
3g.191375252G>TCA355764162CCDC50c.639G>T (p.Arg213Ser)
c.449-4907G>T (n.449-4907G>T)
3g.191375253G>ACA355764165CCDC50c.640G>A (p.Asp214Asn)
c.449-4906G>A (n.449-4906G>A)
3g.191375253G>CCA355764163CCDC50c.640G>C (p.Asp214His)
c.449-4906G>C (n.449-4906G>C)
3g.191375253G>TCA355764164CCDC50c.640G>T (p.Asp214Tyr)
c.449-4906G>T (n.449-4906G>T)
3g.191375253_191375254delinsGACA1429222195CCDC50c.640_641delinsGA (p.Asp214=)
c.449-4906_449-4905delinsGA (n.449-4906_449-4905delinsGA)
3g.191375254delCA2755296CCDC50c.641del (p.Asp214AlafsTer?)
c.449-4905del (n.449-4905del)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375254A=CA1429222196CCDC50c.641A= (p.Asp214=)
c.449-4905A= (n.449-4905A=)
3g.191375254A>CCA355764166CCDC50c.641A>C (p.Asp214Ala)
c.449-4905A>C (n.449-4905A>C)
3g.191375254A>GCA2755297CCDC50c.641A>G (p.Asp214Gly)
c.449-4905A>G (n.449-4905A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375254A>TCA355764167CCDC50c.641A>T (p.Asp214Val)
c.449-4905A>T (n.449-4905A>T)
3g.191375255C>ACA355764168CCDC50c.642C>A (p.Asp214Glu)
c.449-4904C>A (n.449-4904C>A)
3g.191375255C>GCA355764169CCDC50c.642C>G (p.Asp214Glu)
c.449-4904C>G (n.449-4904C>G)
3g.191375255C>TCA437637546CCDC50c.642C>T (p.Asp214=)
c.449-4904C>T (n.449-4904C>T)
gnomAD v4
3g.191375256A=CA1429222197CCDC50c.643A= (p.Asn215=)
c.449-4903A= (n.449-4903A=)
3g.191375256A>CCA355764170CCDC50c.643A>C (p.Asn215His)
c.449-4903A>C (n.449-4903A>C)
3g.191375256A>GCA2755298CCDC50c.643A>G (p.Asn215Asp)
c.449-4903A>G (n.449-4903A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375256A>TCA355764171CCDC50c.643A>T (p.Asn215Tyr)
c.449-4903A>T (n.449-4903A>T)
3g.191375257A>CCA355764172CCDC50c.644A>C (p.Asn215Thr)
c.449-4902A>C (n.449-4902A>C)
3g.191375257A>GCA355764173CCDC50c.644A>G (p.Asn215Ser)
c.449-4902A>G (n.449-4902A>G)
3g.191375257A>TCA355764174CCDC50c.644A>T (p.Asn215Ile)
c.449-4902A>T (n.449-4902A>T)
3g.191375258T>ACA355764175CCDC50c.645T>A (p.Asn215Lys)
c.449-4901T>A (n.449-4901T>A)
dbSNP gnomAD v4
3g.191375258T>CCA437637549CCDC50c.645T>C (p.Asn215=)
c.449-4901T>C (n.449-4901T>C)
3g.191375258T>GCA355764176CCDC50c.645T>G (p.Asn215Lys)
c.449-4901T>G (n.449-4901T>G)
3g.191375258T=CA1429222198CCDC50c.645T= (p.Asn215=)
c.449-4901T= (n.449-4901T=)
3g.191375259C>ACA355764177CCDC50c.646C>A (p.Pro216Thr)
c.449-4900C>A (n.449-4900C>A)
gnomAD v4
3g.191375259C>GCA355764179CCDC50c.646C>G (p.Pro216Ala)
c.449-4900C>G (n.449-4900C>G)
3g.191375259C>TCA355764178CCDC50c.646C>T (p.Pro216Ser)
c.449-4900C>T (n.449-4900C>T)
3g.191375260C>ACA355764180CCDC50c.647C>A (p.Pro216His)
c.449-4899C>A (n.449-4899C>A)
3g.191375260C=CA1429222199CCDC50c.647C= (p.Pro216=)
c.449-4899C= (n.449-4899C=)
3g.191375260C>GCA355764181CCDC50c.647C>G (p.Pro216Arg)
c.449-4899C>G (n.449-4899C>G)
3g.191375260C>TCA355764182CCDC50c.647C>T (p.Pro216Leu)
c.449-4899C>T (n.449-4899C>T)
dbSNP
3g.191375261C>ACA437637553CCDC50c.648C>A (p.Pro216=)
c.449-4898C>A (n.449-4898C>A)
3g.191375261C=CA1429222200CCDC50c.648C= (p.Pro216=)
c.449-4898C= (n.449-4898C=)
3g.191375261C>GCA437637554CCDC50c.648C>G (p.Pro216=)
c.449-4898C>G (n.449-4898C>G)
3g.191375261C>TCA437637555CCDC50c.648C>T (p.Pro216=)
c.449-4898C>T (n.449-4898C>T)
dbSNP gnomAD v4
3g.191375261_191375264delinsCCATCA1429222201CCDC50c.648_651delinsCCAT (p.Pro216=)
c.449-4898_449-4895delinsCCAT (n.449-4898_449-4895delinsCCAT)
3g.191375262C>ACA355764183CCDC50c.649C>A (p.His217Asn)
c.449-4897C>A (n.449-4897C>A)
3g.191375262C=CA1429222203CCDC50c.649C= (p.His217=)
c.449-4897C= (n.449-4897C=)
3g.191375262C>GCA355764184CCDC50c.649C>G (p.His217Asp)
c.449-4897C>G (n.449-4897C>G)
dbSNP
3g.191375262C>TCA355764185CCDC50c.649C>T (p.His217Tyr)
c.449-4897C>T (n.449-4897C>T)
3g.191375262_191375264delCA1429222202CCDC50c.649_651del (p.His217del)
c.449-4897_449-4895del (n.449-4897_449-4895del)
dbSNP
3g.191375263A>CCA355764186CCDC50c.650A>C (p.His217Pro)
c.449-4896A>C (n.449-4896A>C)
3g.191375263A>GCA355764187CCDC50c.650A>G (p.His217Arg)
c.449-4896A>G (n.449-4896A>G)
gnomAD v4
3g.191375263A>TCA355764188CCDC50c.650A>T (p.His217Leu)
c.449-4896A>T (n.449-4896A>T)
gnomAD v4
3g.191375264T>ACA355764189CCDC50c.651T>A (p.His217Gln)
c.449-4895T>A (n.449-4895T>A)
3g.191375264T>CCA142717CCDC50c.651T>C (p.His217=)
c.449-4895T>C (n.449-4895T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375264T>GCA355764190CCDC50c.651T>G (p.His217Gln)
c.449-4895T>G (n.449-4895T>G)
3g.191375264T=CA1429222204CCDC50c.651T= (p.His217=)
c.449-4895T= (n.449-4895T=)
3g.191375265A=CA1429222205CCDC50c.652A= (p.Ile218=)
c.449-4894A= (n.449-4894A=)
3g.191375265A>CCA355764193CCDC50c.652A>C (p.Ile218Leu)
c.449-4894A>C (n.449-4894A>C)
3g.191375265A>GCA355764192CCDC50c.652A>G (p.Ile218Val)
c.449-4894A>G (n.449-4894A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375265A>TCA355764191CCDC50c.652A>T (p.Ile218Phe)
c.449-4894A>T (n.449-4894A>T)
3g.191375266T>ACA355764194CCDC50c.653T>A (p.Ile218Asn)
c.449-4893T>A (n.449-4893T>A)
3g.191375266T>CCA2755299CCDC50c.653T>C (p.Ile218Thr)
c.449-4893T>C (n.449-4893T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375266T>GCA355764195CCDC50c.653T>G (p.Ile218Ser)
c.449-4893T>G (n.449-4893T>G)
3g.191375266T=CA1429222206CCDC50c.653T= (p.Ile218=)
c.449-4893T= (n.449-4893T=)
3g.191375267T>ACA437637561CCDC50c.654T>A (p.Ile218=)
c.449-4892T>A (n.449-4892T>A)
3g.191375267T>CCA437637562CCDC50c.654T>C (p.Ile218=)
c.449-4892T>C (n.449-4892T>C)
3g.191375267T>GCA355764196CCDC50c.654T>G (p.Ile218Met)
c.449-4892T>G (n.449-4892T>G)
3g.191375267T=CA1429222207CCDC50c.654T= (p.Ile218=)
c.449-4892T= (n.449-4892T=)
3g.191375268A=CA1429222208CCDC50c.655A= (p.Asn219=)
c.449-4891A= (n.449-4891A=)
3g.191375268A>CCA355764197CCDC50c.655A>C (p.Asn219His)
c.449-4891A>C (n.449-4891A>C)
3g.191375268A>GCA2755301CCDC50c.655A>G (p.Asn219Asp)
c.449-4891A>G (n.449-4891A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375268A>TCA355764198CCDC50c.655A>T (p.Asn219Tyr)
c.449-4891A>T (n.449-4891A>T)
3g.191375268_191375269dupCA2755300CCDC50c.655_656dup (p.Asn219LysfsTer30)
c.449-4891_449-4890dup (n.449-4891_449-4890dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375269A>CCA355764199CCDC50c.656A>C (p.Asn219Thr)
c.449-4890A>C (n.449-4890A>C)
3g.191375269A>GCA355764200CCDC50c.656A>G (p.Asn219Ser)
c.449-4890A>G (n.449-4890A>G)
3g.191375269A>TCA355764201CCDC50c.656A>T (p.Asn219Ile)
c.449-4890A>T (n.449-4890A>T)
3g.191375270C>ACA355764202CCDC50c.657C>A (p.Asn219Lys)
c.449-4889C>A (n.449-4889C>A)
3g.191375270C=CA1429222209CCDC50c.657C= (p.Asn219=)
c.449-4889C= (n.449-4889C=)
3g.191375270C>GCA355764203CCDC50c.657C>G (p.Asn219Lys)
c.449-4889C>G (n.449-4889C>G)
3g.191375270C>TCA437637565CCDC50c.657C>T (p.Asn219=)
c.449-4889C>T (n.449-4889C>T)
3g.191375271A>CCA355764205CCDC50c.658A>C (p.Asn220His)
c.449-4888A>C (n.449-4888A>C)
3g.191375271A>GCA355764206CCDC50c.658A>G (p.Asn220Asp)
c.449-4888A>G (n.449-4888A>G)
3g.191375271A>TCA355764204CCDC50c.658A>T (p.Asn220Tyr)
c.449-4888A>T (n.449-4888A>T)
3g.191375272dupCA904368683CCDC50c.659dup (p.Asn220LysfsTer2)
c.449-4887dup (n.449-4887dup)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.191375272A=CA1429222210CCDC50c.659A= (p.Asn220=)
c.449-4887A= (n.449-4887A=)
3g.191375272A>CCA355764207CCDC50c.659A>C (p.Asn220Thr)
c.449-4887A>C (n.449-4887A>C)
3g.191375272A>GCA355764208CCDC50c.659A>G (p.Asn220Ser)
c.449-4887A>G (n.449-4887A>G)
dbSNP gnomAD v4
3g.191375272A>TCA355764209CCDC50c.659A>T (p.Asn220Ile)
c.449-4887A>T (n.449-4887A>T)
3g.191375273T>ACA355764210CCDC50c.660T>A (p.Asn220Lys)
c.449-4886T>A (n.449-4886T>A)
3g.191375273T>CCA2755302CCDC50c.660T>C (p.Asn220=)
c.449-4886T>C (n.449-4886T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375273T>GCA355764211CCDC50c.660T>G (p.Asn220Lys)
c.449-4886T>G (n.449-4886T>G)
3g.191375273T=CA1429222211CCDC50c.660T= (p.Asn220=)
c.449-4886T= (n.449-4886T=)
3g.191375274G>ACA355764212CCDC50c.661G>A (p.Glu221Lys)
c.449-4885G>A (n.449-4885G>A)
gnomAD v4
3g.191375274G>CCA355764213CCDC50c.661G>C (p.Glu221Gln)
c.449-4885G>C (n.449-4885G>C)
3g.191375274G>TCA355764214CCDC50c.661G>T (p.Glu221Ter)
c.449-4885G>T (n.449-4885G>T)
3g.191375275A>CCA355764215CCDC50c.662A>C (p.Glu221Ala)
c.449-4884A>C (n.449-4884A>C)
3g.191375275A>GCA355764216CCDC50c.662A>G (p.Glu221Gly)
c.449-4884A>G (n.449-4884A>G)
3g.191375275A>TCA355764217CCDC50c.662A>T (p.Glu221Val)
c.449-4884A>T (n.449-4884A>T)
3g.191375276G>ACA437637572CCDC50c.663G>A (p.Glu221=)
c.449-4883G>A (n.449-4883G>A)
gnomAD v4
3g.191375276G>CCA355764219CCDC50c.663G>C (p.Glu221Asp)
c.449-4883G>C (n.449-4883G>C)
gnomAD v4
3g.191375276G>TCA355764218CCDC50c.663G>T (p.Glu221Asp)
c.449-4883G>T (n.449-4883G>T)
3g.191375277C>ACA355764220CCDC50c.664C>A (p.Gln222Lys)
c.449-4882C>A (n.449-4882C>A)
3g.191375277C>GCA355764221CCDC50c.664C>G (p.Gln222Glu)
c.449-4882C>G (n.449-4882C>G)
3g.191375277C>TCA355764222CCDC50c.664C>T (p.Gln222Ter)
c.449-4882C>T (n.449-4882C>T)
3g.191375278A=CA1429222212CCDC50c.665A= (p.Gln222=)
c.449-4881A= (n.449-4881A=)
3g.191375278A>CCA355764223CCDC50c.665A>C (p.Gln222Pro)
c.449-4881A>C (n.449-4881A>C)
dbSNP gnomAD v2 gnomAD v4
3g.191375278A>GCA355764224CCDC50c.665A>G (p.Gln222Arg)
c.449-4881A>G (n.449-4881A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375278A>TCA355764225CCDC50c.665A>T (p.Gln222Leu)
c.449-4881A>T (n.449-4881A>T)
3g.191375279G>ACA2755303CCDC50c.666G>A (p.Gln222=)
c.449-4880G>A (n.449-4880G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375279G>CCA355764226CCDC50c.666G>C (p.Gln222His)
c.449-4880G>C (n.449-4880G>C)
3g.191375279G=CA1429222213CCDC50c.666G= (p.Gln222=)
c.449-4880G= (n.449-4880G=)
3g.191375279G>TCA355764227CCDC50c.666G>T (p.Gln222His)
c.449-4880G>T (n.449-4880G>T)
ClinVar dbSNP gnomAD v2
3g.191375280C>ACA355764228CCDC50c.667C>A (p.His223Asn)
c.449-4879C>A (n.449-4879C>A)
gnomAD v4
3g.191375280C>GCA355764229CCDC50c.667C>G (p.His223Asp)
c.449-4879C>G (n.449-4879C>G)
3g.191375280C>TCA355764230CCDC50c.667C>T (p.His223Tyr)
c.449-4879C>T (n.449-4879C>T)
gnomAD v4
3g.191375281A>CCA355764232CCDC50c.668A>C (p.His223Pro)
c.449-4878A>C (n.449-4878A>C)
3g.191375281A>GCA355764233CCDC50c.668A>G (p.His223Arg)
c.449-4878A>G (n.449-4878A>G)
gnomAD v4
3g.191375281A>TCA355764231CCDC50c.668A>T (p.His223Leu)
c.449-4878A>T (n.449-4878A>T)
3g.191375282T>ACA355764234CCDC50c.669T>A (p.His223Gln)
c.449-4877T>A (n.449-4877T>A)
gnomAD v4
3g.191375282T>CCA437637580CCDC50c.669T>C (p.His223=)
c.449-4877T>C (n.449-4877T>C)
gnomAD v4
3g.191375282T>GCA2755304CCDC50c.669T>G (p.His223Gln)
c.449-4877T>G (n.449-4877T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375282T=CA1429222214CCDC50c.669T= (p.His223=)
c.449-4877T= (n.449-4877T=)
3g.191375283G>ACA355764235CCDC50c.670G>A (p.Glu224Lys)
c.449-4876G>A (n.449-4876G>A)
gnomAD v4
3g.191375283G>CCA355764236CCDC50c.670G>C (p.Glu224Gln)
c.449-4876G>C (n.449-4876G>C)
3g.191375283G>TCA355764237CCDC50c.670G>T (p.Glu224Ter)
c.449-4876G>T (n.449-4876G>T)
3g.191375284A>CCA355764238CCDC50c.671A>C (p.Glu224Ala)
c.449-4875A>C (n.449-4875A>C)
3g.191375284A>GCA355764239CCDC50c.671A>G (p.Glu224Gly)
c.449-4875A>G (n.449-4875A>G)
3g.191375284A>TCA355764240CCDC50c.671A>T (p.Glu224Val)
c.449-4875A>T (n.449-4875A>T)
3g.191375285A>CCA355764241CCDC50c.672A>C (p.Glu224Asp)
c.449-4874A>C (n.449-4874A>C)
3g.191375285A>GCA437637582CCDC50c.672A>G (p.Glu224=)
c.449-4874A>G (n.449-4874A>G)
3g.191375285A>TCA355764242CCDC50c.672A>T (p.Glu224Asp)
c.449-4874A>T (n.449-4874A>T)
3g.191375286A=CA1429222215CCDC50c.673A= (p.Arg225=)
c.449-4873A= (n.449-4873A=)
3g.191375286A>CCA437637583CCDC50c.673A>C (p.Arg225=)
c.449-4873A>C (n.449-4873A>C)
3g.191375286A>GCA355764243CCDC50c.673A>G (p.Arg225Gly)
c.449-4873A>G (n.449-4873A>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375286A>TCA355764244CCDC50c.673A>T (p.Arg225Trp)
c.449-4873A>T (n.449-4873A>T)
3g.191375287G>ACA355764247CCDC50c.674G>A (p.Arg225Lys)
c.449-4872G>A (n.449-4872G>A)
gnomAD v4
3g.191375287G>CCA355764246CCDC50c.674G>C (p.Arg225Thr)
c.449-4872G>C (n.449-4872G>C)
3g.191375287G>TCA355764245CCDC50c.674G>T (p.Arg225Met)
c.449-4872G>T (n.449-4872G>T)
3g.191375288G>ACA437637584CCDC50c.675G>A (p.Arg225=)
c.449-4871G>A (n.449-4871G>A)
COSMIC
3g.191375288G>CCA355764248CCDC50c.675G>C (p.Arg225Ser)
c.449-4871G>C (n.449-4871G>C)
3g.191375288G>TCA355764249CCDC50c.675G>T (p.Arg225Ser)
c.449-4871G>T (n.449-4871G>T)
3g.191375289A>CCA355764250CCDC50c.676A>C (p.Lys226Gln)
c.449-4870A>C (n.449-4870A>C)
3g.191375289A>GCA355764251CCDC50c.676A>G (p.Lys226Glu)
c.449-4870A>G (n.449-4870A>G)
3g.191375289A>TCA355764252CCDC50c.676A>T (p.Lys226Ter)
c.449-4870A>T (n.449-4870A>T)
3g.191375290A>CCA355764253CCDC50c.677A>C (p.Lys226Thr)
c.449-4869A>C (n.449-4869A>C)
3g.191375290A>GCA355764254CCDC50c.677A>G (p.Lys226Arg)
c.449-4869A>G (n.449-4869A>G)
3g.191375290A>TCA355764255CCDC50c.677A>T (p.Lys226Ile)
c.449-4869A>T (n.449-4869A>T)
3g.191375291A=CA1429222216CCDC50c.678A= (p.Lys226=)
c.449-4868A= (n.449-4868A=)
3g.191375291A>CCA355764256CCDC50c.678A>C (p.Lys226Asn)
c.449-4868A>C (n.449-4868A>C)
3g.191375291A>GCA142719CCDC50c.678A>G (p.Lys226=)
c.449-4868A>G (n.449-4868A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375291A>TCA355764257CCDC50c.678A>T (p.Lys226Asn)
c.449-4868A>T (n.449-4868A>T)
3g.191375291_191375292delinsGTCA2580070580CCDC50c.678_679delinsGT (p.Arg227Trp)
c.449-4868_449-4867delinsGT (n.449-4868_449-4867delinsGT)
ClinVar
3g.191375292C>ACA437637586CCDC50c.679C>A (p.Arg227=)
c.449-4867C>A (n.449-4867C>A)
3g.191375292C=CA1429222217CCDC50c.679C= (p.Arg227=)
c.449-4867C= (n.449-4867C=)
3g.191375292C>GCA355764258CCDC50c.679C>G (p.Arg227Gly)
c.449-4867C>G (n.449-4867C>G)
3g.191375292C>TCA89778671CCDC50c.679C>T (p.Arg227Trp)
c.449-4867C>T (n.449-4867C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375293G>ACA2755306CCDC50c.680G>A (p.Arg227Gln)
c.449-4866G>A (n.449-4866G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375293G>CCA355764259CCDC50c.680G>C (p.Arg227Pro)
c.449-4866G>C (n.449-4866G>C)
3g.191375293G=CA1429222218CCDC50c.680G= (p.Arg227=)
c.449-4866G= (n.449-4866G=)
3g.191375293G>TCA2755305CCDC50c.680G>T (p.Arg227Leu)
c.449-4866G>T (n.449-4866G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375294G>ACA437637588CCDC50c.681G>A (p.Arg227=)
c.449-4865G>A (n.449-4865G>A)
dbSNP
3g.191375294G>CCA437637589CCDC50c.681G>C (p.Arg227=)
c.449-4865G>C (n.449-4865G>C)
gnomAD v4
3g.191375294G=CA1429222219CCDC50c.681G= (p.Arg227=)
c.449-4865G= (n.449-4865G=)
3g.191375294G>TCA437637590CCDC50c.681G>T (p.Arg227=)
c.449-4865G>T (n.449-4865G>T)
3g.191375295T>ACA355764260CCDC50c.682T>A (p.Ser228Thr)
c.449-4864T>A (n.449-4864T>A)
3g.191375295T>CCA355764261CCDC50c.682T>C (p.Ser228Pro)
c.449-4864T>C (n.449-4864T>C)
3g.191375295T>GCA355764262CCDC50c.682T>G (p.Ser228Ala)
c.449-4864T>G (n.449-4864T>G)
3g.191375296C>ACA355764263CCDC50c.683C>A (p.Ser228Tyr)
c.449-4863C>A (n.449-4863C>A)
COSMIC
3g.191375296C>GCA355764264CCDC50c.683C>G (p.Ser228Cys)
c.449-4863C>G (n.449-4863C>G)
3g.191375296C>TCA355764265CCDC50c.683C>T (p.Ser228Phe)
c.449-4863C>T (n.449-4863C>T)
dbSNP
3g.191375297C>ACA437637591CCDC50c.684C>A (p.Ser228=)
c.449-4862C>A (n.449-4862C>A)
dbSNP gnomAD v3 gnomAD v4
3g.191375297C=CA1429222220CCDC50c.684C= (p.Ser228=)
c.449-4862C= (n.449-4862C=)
3g.191375297C>GCA437637592CCDC50c.684C>G (p.Ser228=)
c.449-4862C>G (n.449-4862C>G)
gnomAD v4
3g.191375297C>TCA437637593CCDC50c.684C>T (p.Ser228=)
c.449-4862C>T (n.449-4862C>T)
dbSNP
3g.191375298A=CA1429222221CCDC50c.685A= (p.Thr229=)
c.449-4861A= (n.449-4861A=)
3g.191375298A>CCA355764268CCDC50c.685A>C (p.Thr229Pro)
c.449-4861A>C (n.449-4861A>C)
3g.191375298A>GCA355764266CCDC50c.685A>G (p.Thr229Ala)
c.449-4861A>G (n.449-4861A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375298A>TCA355764267CCDC50c.685A>T (p.Thr229Ser)
c.449-4861A>T (n.449-4861A>T)
3g.191375299C>ACA355764269CCDC50c.686C>A (p.Thr229Asn)
c.449-4860C>A (n.449-4860C>A)
dbSNP
3g.191375299C=CA1429222222CCDC50c.686C= (p.Thr229=)
c.449-4860C= (n.449-4860C=)
3g.191375299C>GCA355764270CCDC50c.686C>G (p.Thr229Ser)
c.449-4860C>G (n.449-4860C>G)
3g.191375299C>TCA355764271CCDC50c.686C>T (p.Thr229Ile)
c.449-4860C>T (n.449-4860C>T)
gnomAD v4
3g.191375300T>ACA437637594CCDC50c.687T>A (p.Thr229=)
c.449-4859T>A (n.449-4859T>A)
3g.191375300T>CCA437637595CCDC50c.687T>C (p.Thr229=)
c.449-4859T>C (n.449-4859T>C)
gnomAD v4
3g.191375300T>GCA437637596CCDC50c.687T>G (p.Thr229=)
c.449-4859T>G (n.449-4859T>G)
3g.191375301C>ACA355764272CCDC50c.688C>A (p.Gln230Lys)
c.449-4858C>A (n.449-4858C>A)
3g.191375301C>GCA355764273CCDC50c.688C>G (p.Gln230Glu)
c.449-4858C>G (n.449-4858C>G)
3g.191375301C>TCA355764274CCDC50c.688C>T (p.Gln230Ter)
c.449-4858C>T (n.449-4858C>T)
dbSNP
3g.191375302A=CA1429222223CCDC50c.689A= (p.Gln230=)
c.449-4857A= (n.449-4857A=)
3g.191375302A>CCA355764275CCDC50c.689A>C (p.Gln230Pro)
c.449-4857A>C (n.449-4857A>C)
3g.191375302A>GCA355764277CCDC50c.689A>G (p.Gln230Arg)
c.449-4857A>G (n.449-4857A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375302A>TCA355764276CCDC50c.689A>T (p.Gln230Leu)
c.449-4857A>T (n.449-4857A>T)
3g.191375303G>ACA437637598CCDC50c.690G>A (p.Gln230=)
c.449-4856G>A (n.449-4856G>A)
3g.191375303G>CCA355764278CCDC50c.690G>C (p.Gln230His)
c.449-4856G>C (n.449-4856G>C)
3g.191375303G=CA1429222224CCDC50c.690G= (p.Gln230=)
c.449-4856G= (n.449-4856G=)
3g.191375303G>TCA355764279CCDC50c.690G>T (p.Gln230His)
c.449-4856G>T (n.449-4856G>T)
dbSNP gnomAD v2
3g.191375304G>ACA355764280CCDC50c.691G>A (p.Glu231Lys)
c.449-4855G>A (n.449-4855G>A)
dbSNP gnomAD v4
3g.191375304G>CCA2755307CCDC50c.691G>C (p.Glu231Gln)
c.449-4855G>C (n.449-4855G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375304G=CA1429222225CCDC50c.691G= (p.Glu231=)
c.449-4855G= (n.449-4855G=)
3g.191375304G>TCA355764281CCDC50c.691G>T (p.Glu231Ter)
c.449-4855G>T (n.449-4855G>T)
3g.191375305A>CCA355764282CCDC50c.692A>C (p.Glu231Ala)
c.449-4854A>C (n.449-4854A>C)
3g.191375305A>GCA355764283CCDC50c.692A>G (p.Glu231Gly)
c.449-4854A>G (n.449-4854A>G)
3g.191375305A>TCA355764284CCDC50c.692A>T (p.Glu231Val)
c.449-4854A>T (n.449-4854A>T)
3g.191375306G>ACA437637602CCDC50c.693G>A (p.Glu231=)
c.449-4853G>A (n.449-4853G>A)
3g.191375306G>CCA355764285CCDC50c.693G>C (p.Glu231Asp)
c.449-4853G>C (n.449-4853G>C)
3g.191375306G>TCA355764286CCDC50c.693G>T (p.Glu231Asp)
c.449-4853G>T (n.449-4853G>T)
3g.191375307A>CCA437637603CCDC50c.694A>C (p.Arg232=)
c.449-4852A>C (n.449-4852A>C)
3g.191375307A>GCA355764287CCDC50c.694A>G (p.Arg232Gly)
c.449-4852A>G (n.449-4852A>G)
gnomAD v4
3g.191375307A>TCA355764288CCDC50c.694A>T (p.Arg232Trp)
c.449-4852A>T (n.449-4852A>T)
3g.191375308G>ACA355764291CCDC50c.695G>A (p.Arg232Lys)
c.449-4851G>A (n.449-4851G>A)
3g.191375308G>CCA355764289CCDC50c.695G>C (p.Arg232Thr)
c.449-4851G>C (n.449-4851G>C)
3g.191375308G>TCA355764290CCDC50c.695G>T (p.Arg232Met)
c.449-4851G>T (n.449-4851G>T)
3g.191375309G>ACA437637609CCDC50c.696G>A (p.Arg232=)
c.449-4850G>A (n.449-4850G>A)
3g.191375309G>CCA355764292CCDC50c.696G>C (p.Arg232Ser)
c.449-4850G>C (n.449-4850G>C)
3g.191375309G>TCA355764293CCDC50c.696G>T (p.Arg232Ser)
c.449-4850G>T (n.449-4850G>T)
3g.191375310C>ACA355764294CCDC50c.697C>A (p.Pro233Thr)
c.449-4849C>A (n.449-4849C>A)
gnomAD v4
3g.191375310C=CA1429222226CCDC50c.697C= (p.Pro233=)
c.449-4849C= (n.449-4849C=)
3g.191375310C>GCA2755308CCDC50c.697C>G (p.Pro233Ala)
c.449-4849C>G (n.449-4849C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375310C>TCA355764295CCDC50c.697C>T (p.Pro233Ser)
c.449-4849C>T (n.449-4849C>T)
gnomAD v4
3g.191375311C>ACA2755309CCDC50c.698C>A (p.Pro233His)
c.449-4848C>A (n.449-4848C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375311C=CA1429222227CCDC50c.698C= (p.Pro233=)
c.449-4848C= (n.449-4848C=)
3g.191375311C>GCA355764296CCDC50c.698C>G (p.Pro233Arg)
c.449-4848C>G (n.449-4848C>G)
3g.191375311C>TCA355764297CCDC50c.698C>T (p.Pro233Leu)
c.449-4848C>T (n.449-4848C>T)
ClinVar dbSNP gnomAD v2
3g.191375312T>ACA437637614CCDC50c.699T>A (p.Pro233=)
c.449-4847T>A (n.449-4847T>A)
3g.191375312T>CCA437637617CCDC50c.699T>C (p.Pro233=)
c.449-4847T>C (n.449-4847T>C)
gnomAD v4
3g.191375312T>GCA437637615CCDC50c.699T>G (p.Pro233=)
c.449-4847T>G (n.449-4847T>G)
3g.191375313C>ACA437637618CCDC50c.700C>A (p.Arg234=)
c.449-4846C>A (n.449-4846C>A)
3g.191375313C=CA1429222228CCDC50c.700C= (p.Arg234=)
c.449-4846C= (n.449-4846C=)
3g.191375313C>GCA355764298CCDC50c.700C>G (p.Arg234Gly)
c.449-4846C>G (n.449-4846C>G)
3g.191375313C>TCA2755310CCDC50c.700C>T (p.Arg234Trp)
c.449-4846C>T (n.449-4846C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375314G>ACA2755311CCDC50c.701G>A (p.Arg234Gln)
c.449-4845G>A (n.449-4845G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375314G>CCA355764299CCDC50c.701G>C (p.Arg234Pro)
c.449-4845G>C (n.449-4845G>C)
dbSNP
3g.191375314G=CA1429222229CCDC50c.701G= (p.Arg234=)
c.449-4845G= (n.449-4845G=)
3g.191375314G>TCA355764300CCDC50c.701G>T (p.Arg234Leu)
c.449-4845G>T (n.449-4845G>T)
3g.191375315G>ACA437637620CCDC50c.702G>A (p.Arg234=)
c.449-4844G>A (n.449-4844G>A)
dbSNP
3g.191375315G>CCA437637621CCDC50c.702G>C (p.Arg234=)
c.449-4844G>C (n.449-4844G>C)
3g.191375315G=CA1429222230CCDC50c.702G= (p.Arg234=)
c.449-4844G= (n.449-4844G=)
3g.191375315G>TCA437637622CCDC50c.702G>T (p.Arg234=)
c.449-4844G>T (n.449-4844G>T)
3g.191375316A>CCA437637623CCDC50c.703A>C (p.Arg235=)
c.449-4843A>C (n.449-4843A>C)
3g.191375316A>GCA355764301CCDC50c.703A>G (p.Arg235Gly)
c.449-4843A>G (n.449-4843A>G)
3g.191375316A>TCA355764302CCDC50c.703A>T (p.Arg235Ter)
c.449-4843A>T (n.449-4843A>T)
gnomAD v4
3g.191375317G>ACA355764305CCDC50c.704G>A (p.Arg235Lys)
c.449-4842G>A (n.449-4842G>A)
3g.191375317G>CCA355764303CCDC50c.704G>C (p.Arg235Thr)
c.449-4842G>C (n.449-4842G>C)
3g.191375317G>TCA355764304CCDC50c.704G>T (p.Arg235Ile)
c.449-4842G>T (n.449-4842G>T)
3g.191375318A>CCA355764306CCDC50c.705A>C (p.Arg235Ser)
c.449-4841A>C (n.449-4841A>C)
3g.191375318A>GCA437637630CCDC50c.705A>G (p.Arg235=)
c.449-4841A>G (n.449-4841A>G)
3g.191375318A>TCA355764307CCDC50c.705A>T (p.Arg235Ser)
c.449-4841A>T (n.449-4841A>T)
3g.191375319C>ACA355764308CCDC50c.706C>A (p.Pro236Thr)
c.449-4840C>A (n.449-4840C>A)
3g.191375319C>GCA355764309CCDC50c.706C>G (p.Pro236Ala)
c.449-4840C>G (n.449-4840C>G)
3g.191375319C>TCA355764310CCDC50c.706C>T (p.Pro236Ser)
c.449-4840C>T (n.449-4840C>T)
3g.191375320C>ACA355764311CCDC50c.707C>A (p.Pro236His)
c.449-4839C>A (n.449-4839C>A)
3g.191375320C=CA1429222231CCDC50c.707C= (p.Pro236=)
c.449-4839C= (n.449-4839C=)
3g.191375320C>GCA355764312CCDC50c.707C>G (p.Pro236Arg)
c.449-4839C>G (n.449-4839C>G)
3g.191375320C>TCA2755312CCDC50c.707C>T (p.Pro236Leu)
c.449-4839C>T (n.449-4839C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375321T>ACA437637635CCDC50c.708T>A (p.Pro236=)
c.449-4838T>A (n.449-4838T>A)
3g.191375321T>CCA437637636CCDC50c.708T>C (p.Pro236=)
c.449-4838T>C (n.449-4838T>C)
3g.191375321T>GCA437637637CCDC50c.708T>G (p.Pro236=)
c.449-4838T>G (n.449-4838T>G)
3g.191375322C>ACA355764313CCDC50c.709C>A (p.Leu237Met)
c.449-4837C>A (n.449-4837C>A)
3g.191375322C>GCA355764314CCDC50c.709C>G (p.Leu237Val)
c.449-4837C>G (n.449-4837C>G)
dbSNP
3g.191375322C>TCA437637640CCDC50c.709C>T (p.Leu237=)
c.449-4837C>T (n.449-4837C>T)
COSMIC
3g.191375323T>ACA355764315CCDC50c.710T>A (p.Leu237Gln)
c.449-4836T>A (n.449-4836T>A)
3g.191375323T>CCA355764316CCDC50c.710T>C (p.Leu237Pro)
c.449-4836T>C (n.449-4836T>C)
3g.191375323T>GCA355764317CCDC50c.710T>G (p.Leu237Arg)
c.449-4836T>G (n.449-4836T>G)
3g.191375324G>ACA437637642CCDC50c.711G>A (p.Leu237=)
c.449-4835G>A (n.449-4835G>A)
3g.191375324G>CCA437637644CCDC50c.711G>C (p.Leu237=)
c.449-4835G>C (n.449-4835G>C)
dbSNP gnomAD v3 gnomAD v4
3g.191375324G=CA1429222232CCDC50c.711G= (p.Leu237=)
c.449-4835G= (n.449-4835G=)
3g.191375324G>TCA437637643CCDC50c.711G>T (p.Leu237=)
c.449-4835G>T (n.449-4835G>T)
3g.191375325C>ACA355764320CCDC50c.712C>A (p.Leu238Ile)
c.449-4834C>A (n.449-4834C>A)
3g.191375325C=CA1429222233CCDC50c.712C= (p.Leu238=)
c.449-4834C= (n.449-4834C=)
3g.191375325C>GCA355764318CCDC50c.712C>G (p.Leu238Val)
c.449-4834C>G (n.449-4834C>G)
gnomAD v4
3g.191375325C>TCA355764319CCDC50c.712C>T (p.Leu238Phe)
c.449-4834C>T (n.449-4834C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375326T>ACA355764321CCDC50c.713T>A (p.Leu238His)
c.449-4833T>A (n.449-4833T>A)
3g.191375326T>CCA355764323CCDC50c.713T>C (p.Leu238Pro)
c.449-4833T>C (n.449-4833T>C)
dbSNP
3g.191375326T>GCA355764322CCDC50c.713T>G (p.Leu238Arg)
c.449-4833T>G (n.449-4833T>G)
3g.191375326T=CA1429222234CCDC50c.713T= (p.Leu238=)
c.449-4833T= (n.449-4833T=)
3g.191375327T>ACA437637647CCDC50c.714T>A (p.Leu238=)
c.449-4832T>A (n.449-4832T>A)
3g.191375327T>CCA437637648CCDC50c.714T>C (p.Leu238=)
c.449-4832T>C (n.449-4832T>C)
3g.191375327T>GCA437637649CCDC50c.714T>G (p.Leu238=)
c.449-4832T>G (n.449-4832T>G)
3g.191375328C>ACA355764324CCDC50c.715C>A (p.Pro239Thr)
c.449-4831C>A (n.449-4831C>A)
3g.191375328C>GCA355764325CCDC50c.715C>G (p.Pro239Ala)
c.449-4831C>G (n.449-4831C>G)
3g.191375328C>TCA355764326CCDC50c.715C>T (p.Pro239Ser)
c.449-4831C>T (n.449-4831C>T)
3g.191375329C>ACA355764327CCDC50c.716C>A (p.Pro239His)
c.449-4830C>A (n.449-4830C>A)
3g.191375329C>GCA355764328CCDC50c.716C>G (p.Pro239Arg)
c.449-4830C>G (n.449-4830C>G)
3g.191375329C>TCA355764329CCDC50c.716C>T (p.Pro239Leu)
c.449-4830C>T (n.449-4830C>T)
3g.191375330C>ACA437637653CCDC50c.717C>A (p.Pro239=)
c.449-4829C>A (n.449-4829C>A)
3g.191375330C=CA1429222235CCDC50c.717C= (p.Pro239=)
c.449-4829C= (n.449-4829C=)
3g.191375330C>GCA89778677CCDC50c.717C>G (p.Pro239=)
c.449-4829C>G (n.449-4829C>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375330C>TCA437637654CCDC50c.717C>T (p.Pro239=)
c.449-4829C>T (n.449-4829C>T)
3g.191375331A=CA1429222236CCDC50c.718A= (p.Thr240=)
c.449-4828A= (n.449-4828A=)
3g.191375331A>CCA355764330CCDC50c.718A>C (p.Thr240Pro)
c.449-4828A>C (n.449-4828A>C)
3g.191375331A>GCA2755313CCDC50c.718A>G (p.Thr240Ala)
c.449-4828A>G (n.449-4828A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375331A>TCA355764331CCDC50c.718A>T (p.Thr240Ser)
c.449-4828A>T (n.449-4828A>T)
3g.191375332C>ACA355764332CCDC50c.719C>A (p.Thr240Lys)
c.449-4827C>A (n.449-4827C>A)
3g.191375332C=CA1429222237CCDC50c.719C= (p.Thr240=)
c.449-4827C= (n.449-4827C=)
3g.191375332C>GCA355764333CCDC50c.719C>G (p.Thr240Arg)
c.449-4827C>G (n.449-4827C>G)
3g.191375332C>TCA2755314CCDC50c.719C>T (p.Thr240Met)
c.449-4827C>T (n.449-4827C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375333G>ACA437637658CCDC50c.720G>A (p.Thr240=)
c.449-4826G>A (n.449-4826G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.191375333G>CCA437637657CCDC50c.720G>C (p.Thr240=)
c.449-4826G>C (n.449-4826G>C)
gnomAD v4
3g.191375333G=CA1429222238CCDC50c.720G= (p.Thr240=)
c.449-4826G= (n.449-4826G=)
3g.191375333G>TCA2755315CCDC50c.720G>T (p.Thr240=)
c.449-4826G>T (n.449-4826G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375334A=CA1429222239CCDC50c.721A= (p.Ile241=)
c.449-4825A= (n.449-4825A=)
3g.191375334A>CCA355764334CCDC50c.721A>C (p.Ile241Leu)
c.449-4825A>C (n.449-4825A>C)
3g.191375334A>GCA355764335CCDC50c.721A>G (p.Ile241Val)
c.449-4825A>G (n.449-4825A>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375334A>TCA355764336CCDC50c.721A>T (p.Ile241Phe)
c.449-4825A>T (n.449-4825A>T)
3g.191375335T>ACA355764337CCDC50c.722T>A (p.Ile241Asn)
c.449-4824T>A (n.449-4824T>A)
3g.191375335T>CCA355764338CCDC50c.722T>C (p.Ile241Thr)
c.449-4824T>C (n.449-4824T>C)
dbSNP gnomAD v4 COSMIC
3g.191375335T>GCA355764339CCDC50c.722T>G (p.Ile241Ser)
c.449-4824T>G (n.449-4824T>G)
3g.191375335T=CA1429222240CCDC50c.722T= (p.Ile241=)
c.449-4824T= (n.449-4824T=)
3g.191375336C>ACA437637661CCDC50c.723C>A (p.Ile241=)
c.449-4823C>A (n.449-4823C>A)
3g.191375336C>GCA355764340CCDC50c.723C>G (p.Ile241Met)
c.449-4823C>G (n.449-4823C>G)
3g.191375336C>TCA437637663CCDC50c.723C>T (p.Ile241=)
c.449-4823C>T (n.449-4823C>T)
COSMIC
3g.191375337A=CA1429222241CCDC50c.724A= (p.Ser242=)
c.449-4822A= (n.449-4822A=)
3g.191375337A>CCA355764341CCDC50c.724A>C (p.Ser242Arg)
c.449-4822A>C (n.449-4822A>C)
3g.191375337A>GCA89778680CCDC50c.724A>G (p.Ser242Gly)
c.449-4822A>G (n.449-4822A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375337A>TCA355764342CCDC50c.724A>T (p.Ser242Cys)
c.449-4822A>T (n.449-4822A>T)
3g.191375338G>ACA355764343CCDC50c.725G>A (p.Ser242Asn)
c.449-4821G>A (n.449-4821G>A)
dbSNP gnomAD v2 gnomAD v4
3g.191375338G>CCA355764344CCDC50c.725G>C (p.Ser242Thr)
c.449-4821G>C (n.449-4821G>C)
3g.191375338G=CA1429222242CCDC50c.725G= (p.Ser242=)
c.449-4821G= (n.449-4821G=)
3g.191375338G>TCA355764345CCDC50c.725G>T (p.Ser242Ile)
c.449-4821G>T (n.449-4821G>T)
3g.191375339T>ACA355764346CCDC50c.726T>A (p.Ser242Arg)
c.449-4820T>A (n.449-4820T>A)
3g.191375339T>CCA2755316CCDC50c.726T>C (p.Ser242=)
c.449-4820T>C (n.449-4820T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375339T>GCA355764347CCDC50c.726T>G (p.Ser242Arg)
c.449-4820T>G (n.449-4820T>G)
3g.191375339T=CA1429222243CCDC50c.726T= (p.Ser242=)
c.449-4820T= (n.449-4820T=)
3g.191375340G>ACA355764348CCDC50c.727G>A (p.Gly243Ser)
c.449-4819G>A (n.449-4819G>A)
3g.191375340G>CCA355764349CCDC50c.727G>C (p.Gly243Arg)
c.449-4819G>C (n.449-4819G>C)
3g.191375340G>TCA355764350CCDC50c.727G>T (p.Gly243Cys)
c.449-4819G>T (n.449-4819G>T)
3g.191375341G>ACA355764351CCDC50c.728G>A (p.Gly243Asp)
c.449-4818G>A (n.449-4818G>A)
3g.191375341G>CCA355764352CCDC50c.728G>C (p.Gly243Ala)
c.449-4818G>C (n.449-4818G>C)
3g.191375341G>TCA355764353CCDC50c.728G>T (p.Gly243Val)
c.449-4818G>T (n.449-4818G>T)
3g.191375342T>ACA437637670CCDC50c.729T>A (p.Gly243=)
c.449-4817T>A (n.449-4817T>A)
3g.191375342T>CCA437637671CCDC50c.729T>C (p.Gly243=)
c.449-4817T>C (n.449-4817T>C)
3g.191375342T>GCA437637672CCDC50c.729T>G (p.Gly243=)
c.449-4817T>G (n.449-4817T>G)
3g.191375343G>ACA355764356CCDC50c.730G>A (p.Glu244Lys)
c.449-4816G>A (n.449-4816G>A)
gnomAD v4
3g.191375343G>CCA355764354CCDC50c.730G>C (p.Glu244Gln)
c.449-4816G>C (n.449-4816G>C)
3g.191375343G>TCA355764355CCDC50c.730G>T (p.Glu244Ter)
c.449-4816G>T (n.449-4816G>T)

Number of alleles fetched