Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42900892_42900895dupCA2695226074G6PC1c.16_19dup (p.Val7GlufsTer5)
n.81_84dup
17g.42900889A>CCA399649692G6PC1c.13A>C (p.Met5Leu)
n.78A>C
17g.42900889A>GCA399649695G6PC1c.13A>G (p.Met5Val)
n.78A>G
COSMIC
17g.42900889A>TCA399649701G6PC1c.13A>T (p.Met5Leu)
n.78A>T
17g.42900890T>ACA399649708G6PC1c.14T>A (p.Met5Lys)
n.79T>A
ClinVar
17g.42900890T>CCA399649711G6PC1c.14T>C (p.Met5Thr)
n.79T>C
17g.42900890T>GCA399649725G6PC1c.14T>G (p.Met5Arg)
n.79T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42900890T=CA2260692834G6PC1c.14T= (p.Met5=)
n.79T=
17g.42900891G>ACA8587473G6PC1c.15G>A (p.Met5Ile)
n.80G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42900891G>CCA8587474G6PC1c.15G>C (p.Met5Ile)
n.80G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42900891G=CA2260692835G6PC1c.15G= (p.Met5=)
n.80G=
17g.42900891G>TCA399649733G6PC1c.15G>T (p.Met5Ile)
n.80G>T
ClinVar dbSNP
17g.42900892A>CCA399649738G6PC1c.16A>C (p.Asn6His)
n.81A>C
17g.42900892A>GCA399649739G6PC1c.16A>G (p.Asn6Asp)
n.81A>G
17g.42900892A>TCA399649740G6PC1c.16A>T (p.Asn6Tyr)
n.81A>T
17g.42900893A=CA2260692836G6PC1c.17A= (p.Asn6=)
n.82A=
17g.42900893A>CCA399649763G6PC1c.17A>C (p.Asn6Thr)
n.82A>C
gnomAD v4
17g.42900893A>GCA8587475G6PC1c.17A>G (p.Asn6Ser)
n.82A>G
dbSNP ExAC gnomAD v3 gnomAD v4
17g.42900893A>TCA399649745G6PC1c.17A>T (p.Asn6Ile)
n.82A>T
17g.42900894T>ACA399649767G6PC1c.18T>A (p.Asn6Lys)
n.83T>A
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42900894T>CCA8587476G6PC1c.18T>C (p.Asn6=)
n.83T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42900894T>GCA399649772G6PC1c.18T>G (p.Asn6Lys)
n.83T>G
17g.42900894T=CA2260692837G6PC1c.18T= (p.Asn6=)
n.83T=
17g.42900895G>ACA290783643G6PC1c.19G>A (p.Val7Ile)
n.84G>A
dbSNP
17g.42900895G>CCA399649779G6PC1c.19G>C (p.Val7Leu)
n.84G>C
17g.42900895G=CA2260692838G6PC1c.19G= (p.Val7=)
n.84G=
17g.42900895G>TCA399649788G6PC1c.19G>T (p.Val7Phe)
n.84G>T
17g.42900896T>ACA399649792G6PC1c.20T>A (p.Val7Asp)
n.85T>A
17g.42900896T>CCA399649793G6PC1c.20T>C (p.Val7Ala)
n.85T>C
17g.42900896T>GCA399649798G6PC1c.20T>G (p.Val7Gly)
n.85T>G
17g.42900897T>ACA500229296G6PC1c.21T>A (p.Val7=)
n.86T>A
17g.42900897T>CCA500229297G6PC1c.21T>C (p.Val7=)
n.86T>C
17g.42900897T>GCA500229298G6PC1c.21T>G (p.Val7=)
n.86T>G
17g.42900898C>ACA399649802G6PC1c.22C>A (p.Leu8Ile)
n.87C>A
gnomAD v4
17g.42900898C=CA2260692839G6PC1c.22C= (p.Leu8=)
n.87C=
17g.42900898C>GCA399649810G6PC1c.22C>G (p.Leu8Val)
n.87C>G
17g.42900898C>TCA399649813G6PC1c.22C>T (p.Leu8Phe)
n.87C>T
dbSNP gnomAD v2 gnomAD v4
17g.42900899T>ACA399649818G6PC1c.23T>A (p.Leu8His)
n.88T>A
17g.42900899T>CCA399649819G6PC1c.23T>C (p.Leu8Pro)
n.88T>C
gnomAD v4
17g.42900899T>GCA399649817G6PC1c.23T>G (p.Leu8Arg)
n.88T>G
17g.42900900C>ACA500229299G6PC1c.24C>A (p.Leu8=)
n.89C>A
17g.42900900C>GCA500229301G6PC1c.24C>G (p.Leu8=)
n.89C>G
17g.42900900C>TCA500229300G6PC1c.24C>T (p.Leu8=)
n.89C>T
gnomAD v4
17g.42900901C>ACA399649820G6PC1c.25C>A (p.His9Asn)
n.90C>A
17g.42900901C>GCA399649823G6PC1c.25C>G (p.His9Asp)
n.90C>G
17g.42900901C>TCA399649827G6PC1c.25C>T (p.His9Tyr)
n.90C>T
17g.42900902A=CA2260692840G6PC1c.26A= (p.His9=)
n.91A=
17g.42900902A>CCA399649830G6PC1c.26A>C (p.His9Pro)
n.91A>C
17g.42900902A>GCA8587477G6PC1c.26A>G (p.His9Arg)
n.91A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42900902A>TCA399649853G6PC1c.26A>T (p.His9Leu)
n.91A>T

Number of alleles fetched