Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42910912C=CA2260697313G6PC1c.563-3C= (n.563-3C=)
c.447-3C= (n.447-3C=)
c.486-3C= (n.486-3C=)
17g.42910912C>GCA915950018G6PC1c.563-3C>G (n.563-3C>G)
c.447-3C>G (n.447-3C>G)
c.486-3C>G (n.486-3C>G)
 ClinVar dbSNP gnomAD v4
17g.42910912C>TCA2573154247G6PC1c.563-3C>T (n.563-3C>T)
c.447-3C>T (n.447-3C>T)
c.486-3C>T (n.486-3C>T)
 ClinVar dbSNP
17g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTACA2260697314G6PC1c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
17g.42910913A>CCA399655316G6PC1c.563-2A>C (n.563-2A>C)
c.447-2A>C (n.447-2A>C)
c.486-2A>C (n.486-2A>C)
17g.42910913A>GCA399655318G6PC1c.563-2A>G (n.563-2A>G)
c.447-2A>G (n.447-2A>G)
c.486-2A>G (n.486-2A>G)
17g.42910913A>TCA399655319G6PC1c.563-2A>T (n.563-2A>T)
c.447-2A>T (n.447-2A>T)
c.486-2A>T (n.486-2A>T)
17g.42910915_42911427delCA1139665564G6PC1c.563_*1del
c.447_*467del
c.486_*467del
 ClinVar dbSNP
17g.42910913_42910914insATCCCTCA2809535965G6PC1c.563-2_563-1insATCCCT (n.563-2_563-1insATCCCT)
c.447-2_447-1insATCCCT (n.447-2_447-1insATCCCT)
c.486-2_486-1insATCCCT (n.486-2_486-1insATCCCT)
17g.42910914G>ACA399655321G6PC1c.563-1G>A (n.563-1G>A)
c.447-1G>A (n.447-1G>A)
c.486-1G>A (n.486-1G>A)
17g.42910914G>CCA399655323G6PC1c.563-1G>C (n.563-1G>C)
c.447-1G>C (n.447-1G>C)
c.486-1G>C (n.486-1G>C)
17g.42910914G>TCA399655325G6PC1c.563-1G>T (n.563-1G>T)
c.447-1G>T (n.447-1G>T)
c.486-1G>T (n.486-1G>T)
17g.42910915G>ACA8587620G6PC1c.563G>A (p.Gly188Asp)
c.447G>A (p.Arg149=)
c.486G>A (p.Arg162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42910915G>CCA399655327G6PC1c.563G>C (p.Gly188Ala)
c.447G>C (p.Arg149=)
c.486G>C (p.Arg162Ser)
17g.42910915G=CA2260697315G6PC1c.563G= (p.Gly188=)
c.447G= (p.Arg149=)
c.486G= (p.Arg162=)
17g.42910915G>TCA399655329G6PC1c.563G>T (p.Gly188Val)
c.447G>T (p.Arg149=)
c.486G>T (p.Arg162Ser)
17g.42910916C>ACA399655331G6PC1c.564C>A (p.Gly188=)
c.448C>A (p.His150Asn)
c.487C>A (p.His163Asn)
17g.42910916C=CA2260697316G6PC1c.564C= (p.Gly188=)
c.448C= (p.His150=)
c.487C= (p.His163=)
17g.42910916C>GCA399655332G6PC1c.564C>G (p.Gly188=)
c.448C>G (p.His150Asp)
c.487C>G (p.His163Asp)
17g.42910916C>TCA8587621G6PC1c.564C>T (p.Gly188=)
c.448C>T (p.His150Tyr)
c.487C>T (p.His163Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910917A=CA2260697317G6PC1c.565A= (p.Ile189=)
c.449A= (p.His150=)
c.488A= (p.His163=)
17g.42910917A>CCA399655338G6PC1c.565A>C (p.Ile189Leu)
c.449A>C (p.His150Pro)
c.488A>C (p.His163Pro)
17g.42910917A>GCA399655336G6PC1c.565A>G (p.Ile189Val)
c.449A>G (p.His150Arg)
c.488A>G (p.His163Arg)
17g.42910917A>TCA399655335G6PC1c.565A>T (p.Ile189Phe)
c.449A>T (p.His150Leu)
c.488A>T (p.His163Leu)
 dbSNP
17g.42910918T>ACA399655340G6PC1c.566T>A (p.Ile189Asn)
c.450T>A (p.His150Gln)
c.489T>A (p.His163Gln)
17g.42910918T>CCA399655343G6PC1c.566T>C (p.Ile189Thr)
c.450T>C (p.His150=)
c.489T>C (p.His163=)
 dbSNP gnomAD v2 gnomAD v4
17g.42910918T>GCA399655342G6PC1c.566T>G (p.Ile189Ser)
c.450T>G (p.His150Gln)
c.489T>G (p.His163Gln)
17g.42910918T=CA2260697318G6PC1c.566T= (p.Ile189=)
c.450T= (p.His150=)
c.489T= (p.His163=)
17g.42910919T>ACA399655344G6PC1c.567T>A (p.Ile189=)
c.451T>A (p.Cys151Ser)
c.490T>A (p.Cys164Ser)
 dbSNP
17g.42910919T>CCA399655345G6PC1c.567T>C (p.Ile189=)
c.451T>C (p.Cys151Arg)
c.490T>C (p.Cys164Arg)
17g.42910919T>GCA399655346G6PC1c.567T>G (p.Ile189Met)
c.451T>G (p.Cys151Gly)
c.490T>G (p.Cys164Gly)
17g.42910919T=CA2260697319G6PC1c.567T= (p.Ile189=)
c.451T= (p.Cys151=)
c.490T= (p.Cys164=)
17g.42910920G>ACA399655348G6PC1c.568G>A (p.Ala190Thr)
c.452G>A (p.Cys151Tyr)
c.491G>A (p.Cys164Tyr)
17g.42910920G>CCA399655349G6PC1c.568G>C (p.Ala190Pro)
c.452G>C (p.Cys151Ser)
c.491G>C (p.Cys164Ser)
17g.42910920G>TCA399655350G6PC1c.568G>T (p.Ala190Ser)
c.452G>T (p.Cys151Phe)
c.491G>T (p.Cys164Phe)
17g.42910921C>ACA399655351G6PC1c.569C>A (p.Ala190Asp)
c.453C>A (p.Cys151Ter)
c.492C>A (p.Cys164Ter)
17g.42910921C=CA2260697320G6PC1c.569C= (p.Ala190=)
c.453C= (p.Cys151=)
c.492C= (p.Cys164=)
17g.42910921C>GCA399655352G6PC1c.569C>G (p.Ala190Gly)
c.453C>G (p.Cys151Trp)
c.492C>G (p.Cys164Trp)
17g.42910921C>TCA399655353G6PC1c.569C>T (p.Ala190Val)
c.453C>T (p.Cys151=)
c.492C>T (p.Cys164=)
 dbSNP gnomAD v3 gnomAD v4
17g.42910922T>ACA8587622G6PC1c.570T>A (p.Ala190=)
c.454T>A (p.Cys152Ser)
c.493T>A (p.Cys165Ser)
 dbSNP ExAC gnomAD v2
17g.42910922T>CCA399655356G6PC1c.570T>C (p.Ala190=)
c.454T>C (p.Cys152Arg)
c.493T>C (p.Cys165Arg)
 ClinVar dbSNP gnomAD v4
17g.42910922T>GCA399655357G6PC1c.570T>G (p.Ala190=)
c.454T>G (p.Cys152Gly)
c.493T>G (p.Cys165Gly)
17g.42910922T=CA2260697321G6PC1c.570T= (p.Ala190=)
c.454T= (p.Cys152=)
c.493T= (p.Cys165=)
17g.42910923G>ACA399655362G6PC1c.571G>A (p.Val191Ile)
c.455G>A (p.Cys152Tyr)
c.494G>A (p.Cys165Tyr)
17g.42910923G>CCA399655359G6PC1c.571G>C (p.Val191Leu)
c.455G>C (p.Cys152Ser)
c.494G>C (p.Cys165Ser)
17g.42910923G>TCA399655361G6PC1c.571G>T (p.Val191Phe)
c.455G>T (p.Cys152Phe)
c.494G>T (p.Cys165Phe)
17g.42910924T>ACA399655363G6PC1c.572T>A (p.Val191Asp)
c.456T>A (p.Cys152Ter)
c.495T>A (p.Cys165Ter)
17g.42910924T>CCA399655365G6PC1c.572T>C (p.Val191Ala)
c.456T>C (p.Cys152=)
c.495T>C (p.Cys165=)
 dbSNP gnomAD v2 gnomAD v4
17g.42910924T>GCA399655366G6PC1c.572T>G (p.Val191Gly)
c.456T>G (p.Cys152Trp)
c.495T>G (p.Cys165Trp)
17g.42910924T=CA2260697322G6PC1c.572T= (p.Val191=)
c.456T= (p.Cys152=)
c.495T= (p.Cys165=)
17g.42910925T>ACA399655368G6PC1c.573T>A (p.Val191=)
c.457T>A (p.Cys153Ser)
c.496T>A (p.Cys166Ser)
17g.42910925T>CCA399655369G6PC1c.573T>C (p.Val191=)
c.457T>C (p.Cys153Arg)
c.496T>C (p.Cys166Arg)
17g.42910925T>GCA399655370G6PC1c.573T>G (p.Val191=)
c.457T>G (p.Cys153Gly)
c.496T>G (p.Cys166Gly)
17g.42910926G>ACA399655371G6PC1c.574G>A (p.Ala192Thr)
c.458G>A (p.Cys153Tyr)
c.497G>A (p.Cys166Tyr)
17g.42910926G>CCA399655372G6PC1c.574G>C (p.Ala192Pro)
c.458G>C (p.Cys153Ser)
c.497G>C (p.Cys166Ser)
17g.42910926G>TCA399655374G6PC1c.574G>T (p.Ala192Ser)
c.458G>T (p.Cys153Phe)
c.497G>T (p.Cys166Phe)
 gnomAD v4
17g.42910927C>ACA399655375G6PC1c.575C>A (p.Ala192Glu)
c.459C>A (p.Cys153Ter)
c.498C>A (p.Cys166Ter)
 ClinVar
17g.42910927C>GCA399655377G6PC1c.575C>G (p.Ala192Gly)
c.459C>G (p.Cys153Trp)
c.498C>G (p.Cys166Trp)
17g.42910927C>TCA399655378G6PC1c.575C>T (p.Ala192Val)
c.459C>T (p.Cys153=)
c.498C>T (p.Cys166=)
 ClinVar gnomAD v4
17g.42910928A>CCA500104437G6PC1c.576A>C (p.Ala192=)
c.460A>C (p.Arg154=)
c.499A>C (p.Arg167=)
17g.42910928A>GCA399655381G6PC1c.576A>G (p.Ala192=)
c.460A>G (p.Arg154Gly)
c.499A>G (p.Arg167Gly)
17g.42910928A>TCA399655379G6PC1c.576A>T (p.Ala192=)
c.460A>T (p.Arg154Ter)
c.499A>T (p.Arg167Ter)
17g.42910929G>ACA399655383G6PC1c.577G>A (p.Glu193Lys)
c.461G>A (p.Arg154Lys)
c.500G>A (p.Arg167Lys)
17g.42910929G>CCA10639722G6PC1c.577G>C (p.Glu193Gln)
c.461G>C (p.Arg154Thr)
c.500G>C (p.Arg167Thr)
 ClinVar dbSNP gnomAD v4
17g.42910929G=CA2260697323G6PC1c.577G= (p.Glu193=)
c.461G= (p.Arg154=)
c.500G= (p.Arg167=)
17g.42910929G>TCA399655385G6PC1c.577G>T (p.Glu193Ter)
c.461G>T (p.Arg154Ile)
c.500G>T (p.Arg167Ile)
17g.42910930A>CCA399655388G6PC1c.578A>C (p.Glu193Ala)
c.462A>C (p.Arg154Ser)
c.501A>C (p.Arg167Ser)
17g.42910930A>GCA399655389G6PC1c.578A>G (p.Glu193Gly)
c.462A>G (p.Arg154=)
c.501A>G (p.Arg167=)
17g.42910930A>TCA399655391G6PC1c.578A>T (p.Glu193Val)
c.462A>T (p.Arg154Ser)
c.501A>T (p.Arg167Ser)
17g.42910931A>CCA399655396G6PC1c.579A>C (p.Glu193Asp)
c.463A>C (p.Asn155His)
c.502A>C (p.Asn168His)
17g.42910931A>GCA399655395G6PC1c.579A>G (p.Glu193=)
c.463A>G (p.Asn155Asp)
c.502A>G (p.Asn168Asp)
17g.42910931A>TCA399655393G6PC1c.579A>T (p.Glu193Asp)
c.463A>T (p.Asn155Tyr)
c.502A>T (p.Asn168Tyr)
17g.42910932A=CA2260697324G6PC1c.580A= (p.Thr194=)
c.464A= (p.Asn155=)
c.503A= (p.Asn168=)
17g.42910932A>CCA399655397G6PC1c.580A>C (p.Thr194Pro)
c.464A>C (p.Asn155Thr)
c.503A>C (p.Asn168Thr)
 dbSNP gnomAD v4
17g.42910932A>GCA399655399G6PC1c.580A>G (p.Thr194Ala)
c.464A>G (p.Asn155Ser)
c.503A>G (p.Asn168Ser)
 ClinVar dbSNP
17g.42910932A>TCA399655401G6PC1c.580A>T (p.Thr194Ser)
c.464A>T (p.Asn155Ile)
c.503A>T (p.Asn168Ile)
17g.42910933C>ACA399655402G6PC1c.581C>A (p.Thr194Asn)
c.465C>A (p.Asn155Lys)
c.504C>A (p.Asn168Lys)
17g.42910933C=CA2260697325G6PC1c.581C= (p.Thr194=)
c.465C= (p.Asn155=)
c.504C= (p.Asn168=)
17g.42910933C>GCA399655403G6PC1c.581C>G (p.Thr194Ser)
c.465C>G (p.Asn155Lys)
c.504C>G (p.Asn168Lys)
 dbSNP gnomAD v4
17g.42910933C>TCA399655404G6PC1c.581C>T (p.Thr194Ile)
c.465C>T (p.Asn155=)
c.504C>T (p.Asn168=)
17g.42910934T>ACA399655406G6PC1c.582T>A (p.Thr194=)
c.466T>A (p.Phe156Ile)
c.505T>A (p.Phe169Ile)
17g.42910934T>CCA8587623G6PC1c.582T>C (p.Thr194=)
c.466T>C (p.Phe156Leu)
c.505T>C (p.Phe169Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910934T>GCA399655408G6PC1c.582T>G (p.Thr194=)
c.466T>G (p.Phe156Val)
c.505T>G (p.Phe169Val)
17g.42910934T=CA2260697326G6PC1c.582T= (p.Thr194=)
c.466T= (p.Phe156=)
c.505T= (p.Phe169=)
17g.42910935T>ACA399655410G6PC1c.583T>A (p.Phe195Ile)
c.467T>A (p.Phe156Tyr)
c.506T>A (p.Phe169Tyr)
17g.42910935T>CCA290789821G6PC1c.583T>C (p.Phe195Leu)
c.467T>C (p.Phe156Ser)
c.506T>C (p.Phe169Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.42910935T>GCA399655412G6PC1c.583T>G (p.Phe195Val)
c.467T>G (p.Phe156Cys)
c.506T>G (p.Phe169Cys)
17g.42910935T=CA2260697327G6PC1c.583T= (p.Phe195=)
c.467T= (p.Phe156=)
c.506T= (p.Phe169=)
17g.42910936T>ACA399655414G6PC1c.584T>A (p.Phe195Tyr)
c.468T>A (p.Phe156Leu)
c.507T>A (p.Phe169Leu)
17g.42910936T>CCA290789824G6PC1c.584T>C (p.Phe195Ser)
c.468T>C (p.Phe156=)
c.507T>C (p.Phe169=)
 dbSNP gnomAD v2 gnomAD v4
17g.42910936T>GCA399655416G6PC1c.584T>G (p.Phe195Cys)
c.468T>G (p.Phe156Leu)
c.507T>G (p.Phe169Leu)
17g.42910936T=CA2260697328G6PC1c.584T= (p.Phe195=)
c.468T= (p.Phe156=)
c.507T= (p.Phe169=)
17g.42910937C>ACA8587625G6PC1c.585C>A (p.Phe195Leu)
c.469C>A (p.Gln157Lys)
c.508C>A (p.Gln170Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42910937C=CA2260697329G6PC1c.585C= (p.Phe195=)
c.469C= (p.Gln157=)
c.508C= (p.Gln170=)
17g.42910937C>GCA8587624G6PC1c.585C>G (p.Phe195Leu)
c.469C>G (p.Gln157Glu)
c.508C>G (p.Gln170Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910937C>TCA399655420G6PC1c.585C>T (p.Phe195=)
c.469C>T (p.Gln157Ter)
c.508C>T (p.Gln170Ter)
 COSMIC
17g.42910938A>CCA399655423G6PC1c.586A>C (p.Ser196Arg)
c.470A>C (p.Gln157Pro)
c.509A>C (p.Gln170Pro)
 gnomAD v4
17g.42910938A>GCA399655424G6PC1c.586A>G (p.Ser196Gly)
c.470A>G (p.Gln157Arg)
c.509A>G (p.Gln170Arg)
17g.42910938A>TCA399655426G6PC1c.586A>T (p.Ser196Cys)
c.470A>T (p.Gln157Leu)
c.509A>T (p.Gln170Leu)
17g.42910939G>ACA399655428G6PC1c.587G>A (p.Ser196Asn)
c.471G>A (p.Gln157=)
c.510G>A (p.Gln170=)
 ClinVar
17g.42910939G>CCA399655431G6PC1c.587G>C (p.Ser196Thr)
c.471G>C (p.Gln157His)
c.510G>C (p.Gln170His)
17g.42910939G>TCA399655430G6PC1c.587G>T (p.Ser196Ile)
c.471G>T (p.Gln157His)
c.510G>T (p.Gln170His)
17g.42910940C>ACA399655433G6PC1c.588C>A (p.Ser196Arg)
c.472C>A (p.Pro158Thr)
c.511C>A (p.Pro171Thr)
17g.42910940C>GCA399655435G6PC1c.588C>G (p.Ser196Arg)
c.472C>G (p.Pro158Ala)
c.511C>G (p.Pro171Ala)
17g.42910940C>TCA399655437G6PC1c.588C>T (p.Ser196=)
c.472C>T (p.Pro158Ser)
c.511C>T (p.Pro171Ser)
17g.42910941C>ACA399655438G6PC1c.589C>A (p.His197Asn)
c.473C>A (p.Pro158Gln)
c.512C>A (p.Pro171Gln)
17g.42910941C>GCA399655439G6PC1c.589C>G (p.His197Asp)
c.473C>G (p.Pro158Arg)
c.512C>G (p.Pro171Arg)
17g.42910941C>TCA399655440G6PC1c.589C>T (p.His197Tyr)
c.473C>T (p.Pro158Leu)
c.512C>T (p.Pro171Leu)
 gnomAD v4
17g.42910942A>CCA399655443G6PC1c.590A>C (p.His197Pro)
c.474A>C (p.Pro158=)
c.513A>C (p.Pro171=)
 gnomAD v4
17g.42910942A>GCA399655442G6PC1c.590A>G (p.His197Arg)
c.474A>G (p.Pro158=)
c.513A>G (p.Pro171=)
17g.42910942A>TCA399655441G6PC1c.590A>T (p.His197Leu)
c.474A>T (p.Pro158=)
c.513A>T (p.Pro171=)
17g.42910943C>ACA399655446G6PC1c.591C>A (p.His197Gln)
c.475C>A (p.His159Asn)
c.514C>A (p.His172Asn)
 dbSNP
17g.42910943C=CA2260697330G6PC1c.591C= (p.His197=)
c.475C= (p.His159=)
c.514C= (p.His172=)
17g.42910943C>GCA399655447G6PC1c.591C>G (p.His197Gln)
c.475C>G (p.His159Asp)
c.514C>G (p.His172Asp)
17g.42910943C>TCA399655448G6PC1c.591C>T (p.His197=)
c.475C>T (p.His159Tyr)
c.514C>T (p.His172Tyr)
 gnomAD v4
17g.42910944A>CCA399655450G6PC1c.592A>C (p.Ile198Leu)
c.476A>C (p.His159Pro)
c.515A>C (p.His172Pro)
17g.42910944A>GCA399655452G6PC1c.592A>G (p.Ile198Val)
c.476A>G (p.His159Arg)
c.515A>G (p.His172Arg)
17g.42910944A>TCA399655454G6PC1c.592A>T (p.Ile198Phe)
c.476A>T (p.His159Leu)
c.515A>T (p.His172Leu)
17g.42910944_42910945delCA2573054425G6PC1c.592_593del (p.Ile198ProfsTer5)
c.476_477del (p.His159ProfsTer?)
c.515_516del (p.His172ProfsTer?)
 ClinVar dbSNP
17g.42910945T>ACA399655455G6PC1c.593T>A (p.Ile198Asn)
c.477T>A (p.His159Gln)
c.516T>A (p.His172Gln)
17g.42910945T>CCA399655459G6PC1c.593T>C (p.Ile198Thr)
c.477T>C (p.His159=)
c.516T>C (p.His172=)
 gnomAD v4
17g.42910945T>GCA399655457G6PC1c.593T>G (p.Ile198Ser)
c.477T>G (p.His159Gln)
c.516T>G (p.His172Gln)
17g.42910946C>ACA399655461G6PC1c.594C>A (p.Ile198=)
c.478C>A (p.Pro160Thr)
c.517C>A (p.Pro173Thr)
17g.42910946C=CA2260697331G6PC1c.594C= (p.Ile198=)
c.478C= (p.Pro160=)
c.517C= (p.Pro173=)
17g.42910946C>GCA399655462G6PC1c.594C>G (p.Ile198Met)
c.478C>G (p.Pro160Ala)
c.517C>G (p.Pro173Ala)
 dbSNP
17g.42910946C>TCA399655464G6PC1c.594C>T (p.Ile198=)
c.478C>T (p.Pro160Ser)
c.517C>T (p.Pro173Ser)
17g.42910947C>ACA399655465G6PC1c.595C>A (p.His199Asn)
c.479C>A (p.Pro160Gln)
c.518C>A (p.Pro173Gln)
17g.42910947C>GCA399655466G6PC1c.595C>G (p.His199Asp)
c.479C>G (p.Pro160Arg)
c.518C>G (p.Pro173Arg)
17g.42910947C>TCA399655468G6PC1c.595C>T (p.His199Tyr)
c.479C>T (p.Pro160Leu)
c.518C>T (p.Pro173Leu)
 gnomAD v4
17g.42910948A>CCA399655469G6PC1c.596A>C (p.His199Pro)
c.480A>C (p.Pro160=)
c.519A>C (p.Pro173=)
17g.42910948A>GCA399655471G6PC1c.596A>G (p.His199Arg)
c.480A>G (p.Pro160=)
c.519A>G (p.Pro173=)
17g.42910948A>TCA399655473G6PC1c.596A>T (p.His199Leu)
c.480A>T (p.Pro160=)
c.519A>T (p.Pro173=)
17g.42910949C>ACA399655475G6PC1c.597C>A (p.His199Gln)
c.481C>A (p.Gln161Lys)
c.520C>A (p.Gln174Lys)
17g.42910949C>GCA399655477G6PC1c.597C>G (p.His199Gln)
c.481C>G (p.Gln161Glu)
c.520C>G (p.Gln174Glu)
17g.42910949C>TCA399655478G6PC1c.597C>T (p.His199=)
c.481C>T (p.Gln161Ter)
c.520C>T (p.Gln174Ter)
17g.42910950A>CCA399655480G6PC1c.598A>C (p.Ser200Arg)
c.482A>C (p.Gln161Pro)
c.521A>C (p.Gln174Pro)
17g.42910950A>GCA399655483G6PC1c.598A>G (p.Ser200Gly)
c.482A>G (p.Gln161Arg)
c.521A>G (p.Gln174Arg)
17g.42910950A>TCA399655481G6PC1c.598A>T (p.Ser200Cys)
c.482A>T (p.Gln161Leu)
c.521A>T (p.Gln174Leu)
17g.42910951G>ACA399655485G6PC1c.599G>A (p.Ser200Asn)
c.483G>A (p.Gln161=)
c.522G>A (p.Gln174=)
 dbSNP gnomAD v3 gnomAD v4
17g.42910951G>CCA399655487G6PC1c.599G>C (p.Ser200Thr)
c.483G>C (p.Gln161His)
c.522G>C (p.Gln174His)
17g.42910951G=CA2260697332G6PC1c.599G= (p.Ser200=)
c.483G= (p.Gln161=)
c.522G= (p.Gln174=)
17g.42910951G>TCA399655488G6PC1c.599G>T (p.Ser200Ile)
c.483G>T (p.Gln161His)
c.522G>T (p.Gln174His)
17g.42910952C>ACA399655490G6PC1c.600C>A (p.Ser200Arg)
c.484C>A (p.His162Asn)
c.523C>A (p.His175Asn)
 COSMIC
17g.42910952C>GCA399655491G6PC1c.600C>G (p.Ser200Arg)
c.484C>G (p.His162Asp)
c.523C>G (p.His175Asp)
17g.42910952C>TCA399655492G6PC1c.600C>T (p.Ser200=)
c.484C>T (p.His162Tyr)
c.523C>T (p.His175Tyr)
 ClinVar dbSNP gnomAD v4
17g.42910953A=CA2260697333G6PC1c.601A= (p.Ile201=)
c.485A= (p.His162=)
c.524A= (p.His175=)
17g.42910953A>CCA399655494G6PC1c.601A>C (p.Ile201Leu)
c.485A>C (p.His162Pro)
c.524A>C (p.His175Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.42910953A>GCA399655496G6PC1c.601A>G (p.Ile201Val)
c.485A>G (p.His162Arg)
c.524A>G (p.His175Arg)
 gnomAD v4
17g.42910953A>TCA399655498G6PC1c.601A>T (p.Ile201Phe)
c.485A>T (p.His162Leu)
c.524A>T (p.His175Leu)
17g.42910954T>ACA399655499G6PC1c.602T>A (p.Ile201Asn)
c.486T>A (p.His162Gln)
c.525T>A (p.His175Gln)
17g.42910954T>CCA399655500G6PC1c.602T>C (p.Ile201Thr)
c.486T>C (p.His162=)
c.525T>C (p.His175=)
 dbSNP
17g.42910954T>GCA399655502G6PC1c.602T>G (p.Ile201Ser)
c.486T>G (p.His162Gln)
c.525T>G (p.His175Gln)
17g.42910954T=CA2260697334G6PC1c.602T= (p.Ile201=)
c.486T= (p.His162=)
c.525T= (p.His175=)
17g.42910955C>ACA399655505G6PC1c.603C>A (p.Ile201=)
c.487C>A (p.Leu163Ile)
c.526C>A (p.Leu176Ile)
17g.42910955C>GCA399655503G6PC1c.603C>G (p.Ile201Met)
c.487C>G (p.Leu163Val)
c.526C>G (p.Leu176Val)
17g.42910955C>TCA500104498G6PC1c.603C>T (p.Ile201=)
c.487C>T (p.Leu163=)
c.526C>T (p.Leu176=)
17g.42910956T>ACA399655507G6PC1c.604T>A (p.Tyr202Asn)
c.488T>A (p.Leu163Gln)
c.527T>A (p.Leu176Gln)
17g.42910956T>CCA399655509G6PC1c.604T>C (p.Tyr202His)
c.488T>C (p.Leu163Pro)
c.527T>C (p.Leu176Pro)
17g.42910956T>GCA399655510G6PC1c.604T>G (p.Tyr202Asp)
c.488T>G (p.Leu163Arg)
c.527T>G (p.Leu176Arg)
17g.42910957A>CCA399655512G6PC1c.605A>C (p.Tyr202Ser)
c.489A>C (p.Leu163=)
c.528A>C (p.Leu176=)
 gnomAD v4
17g.42910957A>GCA399655514G6PC1c.605A>G (p.Tyr202Cys)
c.489A>G (p.Leu163=)
c.528A>G (p.Leu176=)
 gnomAD v4
17g.42910957A>TCA399655516G6PC1c.605A>T (p.Tyr202Phe)
c.489A>T (p.Leu163=)
c.528A>T (p.Leu176=)
17g.42910958T>ACA399655517G6PC1c.606T>A (p.Tyr202Ter)
c.490T>A (p.Ter164Lys)
c.529T>A (p.Ter177Lys)
17g.42910958T>CCA399655519G6PC1c.606T>C (p.Tyr202=)
c.490T>C (p.Ter164Gln)
c.529T>C (p.Ter177Gln)
 ClinVar dbSNP
17g.42910958T>GCA399655521G6PC1c.606T>G (p.Tyr202Ter)
c.490T>G (p.Ter164Glu)
c.529T>G (p.Ter177Glu)
17g.42910958T=CA2260697335G6PC1c.606T= (p.Tyr202=)
c.490T= (p.Ter164=)
c.529T= (p.Ter177=)
17g.42910959A>CCA399655523G6PC1c.607A>C (p.Asn203His)
c.491A>C (p.Ter164Ser)
c.530A>C (p.Ter177Ser)
17g.42910959A>GCA399655524G6PC1c.607A>G (p.Asn203Asp)
c.491A>G (p.Ter164=)
c.530A>G (p.Ter177=)
17g.42910959A>TCA399655526G6PC1c.607A>T (p.Asn203Tyr)
c.491A>T (p.Ter164Leu)
c.530A>T (p.Ter177Leu)
17g.42910960A>CCA399655528G6PC1c.608A>C (p.Asn203Thr)
c.492A>C (p.Ter164Tyr)
c.531A>C (p.Ter177Tyr)
17g.42910960A>GCA399655531G6PC1c.608A>G (p.Asn203Ser)
c.492A>G (p.Ter164=)
c.531A>G (p.Ter177=)
17g.42910960A>TCA399655530G6PC1c.608A>T (p.Asn203Ile)
c.492A>T (p.Ter164Tyr)
c.531A>T (p.Ter177Tyr)
17g.42910961T>ACA399655533G6PC1c.609T>A (p.Asn203Lys)
c.*1T>A (n.*1T>A)
17g.42910961T>CCA500104515G6PC1c.609T>C (p.Asn203=)
c.*1T>C (n.*1T>C)
17g.42910961T>GCA399655535G6PC1c.609T>G (p.Asn203Lys)
c.*1T>G (n.*1T>G)
17g.42910962G>ACA399655537G6PC1c.610G>A (p.Ala204Thr)
c.*2G>A (n.*2G>A)
17g.42910962G>CCA399655538G6PC1c.610G>C (p.Ala204Pro)
c.*2G>C (n.*2G>C)
17g.42910962G=CA2260697336G6PC1c.610G= (p.Ala204=)
c.*2G= (n.*2G=)
17g.42910962G>TCA8587626G6PC1c.610G>T (p.Ala204Ser)
c.*2G>T (n.*2G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910963C>ACA399655541G6PC1c.611C>A (p.Ala204Asp)
c.*3C>A (n.*3C>A)
 gnomAD v4
17g.42910963C=CA2260697337G6PC1c.611C= (p.Ala204=)
c.*3C= (n.*3C=)
17g.42910963C>GCA399655543G6PC1c.611C>G (p.Ala204Gly)
c.*3C>G (n.*3C>G)
17g.42910963C>TCA290789828G6PC1c.611C>T (p.Ala204Val)
c.*3C>T (n.*3C>T)
 dbSNP gnomAD v4
17g.42910964C>ACA500104527G6PC1c.612C>A (p.Ala204=)
c.*4C>A (n.*4C>A)
17g.42910964C>GCA500104523G6PC1c.612C>G (p.Ala204=)
c.*4C>G (n.*4C>G)
17g.42910964C>TCA500104525G6PC1c.612C>T (p.Ala204=)
c.*4C>T (n.*4C>T)
17g.42910965A>CCA399655548G6PC1c.613A>C (p.Ser205Arg)
c.*5A>C (n.*5A>C)
17g.42910965A>GCA399655547G6PC1c.613A>G (p.Ser205Gly)
c.*5A>G (n.*5A>G)
 gnomAD v4
17g.42910965A>TCA399655546G6PC1c.613A>T (p.Ser205Cys)
c.*5A>T (n.*5A>T)
17g.42910966G>ACA399655550G6PC1c.614G>A (p.Ser205Asn)
c.*6G>A (n.*6G>A)
17g.42910966G>CCA399655552G6PC1c.614G>C (p.Ser205Thr)
c.*6G>C (n.*6G>C)
17g.42910966G>TCA399655553G6PC1c.614G>T (p.Ser205Ile)
c.*6G>T (n.*6G>T)
17g.42910967C>ACA399655555G6PC1c.615C>A (p.Ser205Arg)
c.*7C>A (n.*7C>A)
 gnomAD v4
17g.42910967C=CA2260697338G6PC1c.615C= (p.Ser205=)
c.*7C= (n.*7C=)
17g.42910967C>GCA399655557G6PC1c.615C>G (p.Ser205Arg)
c.*7C>G (n.*7C>G)
17g.42910967C>TCA8587627G6PC1c.615C>T (p.Ser205=)
c.*7C>T (n.*7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910968C>ACA399655559G6PC1c.616C>A (p.Leu206Ile)
c.*8C>A (n.*8C>A)
17g.42910968C>GCA399655563G6PC1c.616C>G (p.Leu206Val)
c.*8C>G (n.*8C>G)
17g.42910968C>TCA399655560G6PC1c.616C>T (p.Leu206Phe)
c.*8C>T (n.*8C>T)
 gnomAD v4
17g.42910969T>ACA399655564G6PC1c.617T>A (p.Leu206His)
c.*9T>A (n.*9T>A)
17g.42910969T>CCA399655566G6PC1c.617T>C (p.Leu206Pro)
c.*9T>C (n.*9T>C)
17g.42910969T>GCA399655568G6PC1c.617T>G (p.Leu206Arg)
c.*9T>G (n.*9T>G)
17g.42910970C>ACA500104548G6PC1c.618C>A (p.Leu206=)
c.*10C>A (n.*10C>A)
17g.42910970C>GCA500104550G6PC1c.618C>G (p.Leu206=)
c.*10C>G (n.*10C>G)
17g.42910970C>TCA500104552G6PC1c.618C>T (p.Leu206=)
c.*10C>T (n.*10C>T)
17g.42910971A>CCA399655570G6PC1c.619A>C (p.Lys207Gln)
c.*11A>C (n.*11A>C)
17g.42910971A>GCA399655571G6PC1c.619A>G (p.Lys207Glu)
c.*11A>G (n.*11A>G)
17g.42910971A>TCA399655573G6PC1c.619A>T (p.Lys207Ter)
c.*11A>T (n.*11A>T)
17g.42910972A=CA2260697339G6PC1c.620A= (p.Lys207=)
c.*12A= (n.*12A=)
17g.42910972A>CCA399655575G6PC1c.620A>C (p.Lys207Thr)
c.*12A>C (n.*12A>C)
17g.42910972A>GCA399655577G6PC1c.620A>G (p.Lys207Arg)
c.*12A>G (n.*12A>G)
 gnomAD v4 COSMIC
17g.42910972A>TCA399655579G6PC1c.620A>T (p.Lys207Met)
c.*12A>T (n.*12A>T)
 dbSNP
17g.42910973G>ACA500104560G6PC1c.621G>A (p.Lys207=)
c.*13G>A (n.*13G>A)
17g.42910973G>CCA399655580G6PC1c.621G>C (p.Lys207Asn)
c.*13G>C (n.*13G>C)
17g.42910973G>TCA399655582G6PC1c.621G>T (p.Lys207Asn)
c.*13G>T (n.*13G>T)
 gnomAD v4 COSMIC
17g.42910974A>CCA399655583G6PC1c.622A>C (p.Lys208Gln)
c.*14A>C (n.*14A>C)
17g.42910974A>GCA399655587G6PC1c.622A>G (p.Lys208Glu)
c.*14A>G (n.*14A>G)
17g.42910974A>TCA399655585G6PC1c.622A>T (p.Lys208Ter)
c.*14A>T (n.*14A>T)
17g.42910975A=CA2260697340G6PC1c.623A= (p.Lys208=)
c.*15A= (n.*15A=)
17g.42910975A>CCA399655588G6PC1c.623A>C (p.Lys208Thr)
c.*15A>C (n.*15A>C)
 dbSNP
17g.42910975A>GCA399655590G6PC1c.623A>G (p.Lys208Arg)
c.*15A>G (n.*15A>G)
17g.42910975A>TCA399655592G6PC1c.623A>T (p.Lys208Ile)
c.*15A>T (n.*15A>T)
17g.42910976A=CA2260697341G6PC1c.624A= (p.Lys208=)
c.*16A= (n.*16A=)
17g.42910976A>CCA8587628G6PC1c.624A>C (p.Lys208Asn)
c.*16A>C (n.*16A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910976A>GCA500104572G6PC1c.624A>G (p.Lys208=)
c.*16A>G (n.*16A>G)
17g.42910976A>TCA399655594G6PC1c.624A>T (p.Lys208Asn)
c.*16A>T (n.*16A>T)
17g.42910977T>ACA399655597G6PC1c.625T>A (p.Tyr209Asn)
c.*17T>A (n.*17T>A)
17g.42910977T>CCA399655598G6PC1c.625T>C (p.Tyr209His)
c.*17T>C (n.*17T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42910977T>GCA399655600G6PC1c.625T>G (p.Tyr209Asp)
c.*17T>G (n.*17T>G)
17g.42910977T=CA2260697342G6PC1c.625T= (p.Tyr209=)
c.*17T= (n.*17T=)
17g.42910978A=CA2260697343G6PC1c.626A= (p.Tyr209=)
c.*18A= (n.*18A=)
17g.42910978A>CCA399655602G6PC1c.626A>C (p.Tyr209Ser)
c.*18A>C (n.*18A>C)
17g.42910978A>GCA399655604G6PC1c.626A>G (p.Tyr209Cys)
c.*18A>G (n.*18A>G)
 ClinVar dbSNP
17g.42910978A>TCA399655605G6PC1c.626A>T (p.Tyr209Phe)
c.*18A>T (n.*18A>T)
17g.42910979T>ACA399655607G6PC1c.627T>A (p.Tyr209Ter)
c.*19T>A (n.*19T>A)
17g.42910979T>CCA500104582G6PC1c.627T>C (p.Tyr209=)
c.*19T>C (n.*19T>C)
17g.42910979T>GCA399655608G6PC1c.627T>G (p.Tyr209Ter)
c.*19T>G (n.*19T>G)
17g.42910980T>ACA399655609G6PC1c.628T>A (p.Phe210Ile)
c.*20T>A (n.*20T>A)
17g.42910980T>CCA399655612G6PC1c.628T>C (p.Phe210Leu)
c.*20T>C (n.*20T>C)
17g.42910980T>GCA399655610G6PC1c.628T>G (p.Phe210Val)
c.*20T>G (n.*20T>G)
 COSMIC
17g.42910981T>ACA399655614G6PC1c.629T>A (p.Phe210Tyr)
c.*21T>A (n.*21T>A)
17g.42910981T>CCA399655616G6PC1c.629T>C (p.Phe210Ser)
c.*21T>C (n.*21T>C)
17g.42910981T>GCA399655617G6PC1c.629T>G (p.Phe210Cys)
c.*21T>G (n.*21T>G)
17g.42910982T>ACA399655619G6PC1c.630T>A (p.Phe210Leu)
c.*22T>A (n.*22T>A)
17g.42910982T>CCA500104592G6PC1c.630T>C (p.Phe210=)
c.*22T>C (n.*22T>C)
17g.42910982T>GCA399655621G6PC1c.630T>G (p.Phe210Leu)
c.*22T>G (n.*22T>G)
17g.42910983C>ACA399655623G6PC1c.631C>A (p.Leu211Ile)
c.*23C>A (n.*23C>A)
 gnomAD v4
17g.42910983C>GCA399655624G6PC1c.631C>G (p.Leu211Val)
c.*23C>G (n.*23C>G)
17g.42910983C>TCA399655625G6PC1c.631C>T (p.Leu211Phe)
c.*23C>T (n.*23C>T)
17g.42910984T>ACA399655627G6PC1c.632T>A (p.Leu211His)
c.*24T>A (n.*24T>A)
17g.42910984T>CCA399655628G6PC1c.632T>C (p.Leu211Pro)
c.*24T>C (n.*24T>C)
17g.42910984T>GCA399655630G6PC1c.632T>G (p.Leu211Arg)
c.*24T>G (n.*24T>G)
 COSMIC
17g.42910985C>ACA500104601G6PC1c.633C>A (p.Leu211=)
c.*25C>A (n.*25C>A)
17g.42910985C>GCA500104604G6PC1c.633C>G (p.Leu211=)
c.*25C>G (n.*25C>G)
17g.42910985C>TCA500104603G6PC1c.633C>T (p.Leu211=)
c.*25C>T (n.*25C>T)
 ClinVar gnomAD v4
17g.42910986A=CA2260697344G6PC1c.634A= (p.Ile212=)
c.*26A= (n.*26A=)
17g.42910986A>CCA399655633G6PC1c.634A>C (p.Ile212Leu)
c.*26A>C (n.*26A>C)
17g.42910986A>GCA8587629G6PC1c.634A>G (p.Ile212Val)
c.*26A>G (n.*26A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42910986A>TCA399655631G6PC1c.634A>T (p.Ile212Phe)
c.*26A>T (n.*26A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42910987T>ACA399655637G6PC1c.635T>A (p.Ile212Asn)
c.*27T>A (n.*27T>A)
17g.42910987T>CCA399655636G6PC1c.635T>C (p.Ile212Thr)
c.*27T>C (n.*27T>C)
17g.42910987T>GCA399655639G6PC1c.635T>G (p.Ile212Ser)
c.*27T>G (n.*27T>G)
17g.42910988T>ACA500104616G6PC1c.636T>A (p.Ile212=)
c.*28T>A (n.*28T>A)
17g.42910988T>CCA500104613G6PC1c.636T>C (p.Ile212=)
c.*28T>C (n.*28T>C)
17g.42910988T>GCA399655641G6PC1c.636T>G (p.Ile212Met)
c.*28T>G (n.*28T>G)
17g.42910989A=CA2260697345G6PC1c.637A= (p.Thr213=)
c.*29A= (n.*29A=)
17g.42910989A>CCA399655643G6PC1c.637A>C (p.Thr213Pro)
c.*29A>C (n.*29A>C)
17g.42910989A>GCA399655644G6PC1c.637A>G (p.Thr213Ala)
c.*29A>G (n.*29A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.42910989A>TCA399655646G6PC1c.637A>T (p.Thr213Ser)
c.*29A>T (n.*29A>T)
17g.42910990C>ACA399655648G6PC1c.638C>A (p.Thr213Asn)
c.*30C>A (n.*30C>A)
 dbSNP
17g.42910990C=CA2260697346G6PC1c.638C= (p.Thr213=)
c.*30C= (n.*30C=)
17g.42910990C>GCA399655649G6PC1c.638C>G (p.Thr213Ser)
c.*30C>G (n.*30C>G)
17g.42910990C>TCA10649313G6PC1c.638C>T (p.Thr213Ile)
c.*30C>T (n.*30C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42910991C>ACA500104625G6PC1c.639C>A (p.Thr213=)
c.*31C>A (n.*31C>A)
17g.42910991C>GCA500104627G6PC1c.639C>G (p.Thr213=)
c.*31C>G (n.*31C>G)
17g.42910991C>TCA500104629G6PC1c.639C>T (p.Thr213=)
c.*31C>T (n.*31C>T)
17g.42910995_42910997delCA2638041180G6PC1c.643_645del (p.Phe215del)
c.*35_*37del (n.*35_*37del)
 gnomAD v4
17g.42910992T>ACA399655652G6PC1c.640T>A (p.Phe214Ile)
c.*32T>A (n.*32T>A)
17g.42910992T>CCA399655654G6PC1c.640T>C (p.Phe214Leu)
c.*32T>C (n.*32T>C)
17g.42910992T>GCA399655655G6PC1c.640T>G (p.Phe214Val)
c.*32T>G (n.*32T>G)
17g.42910993T>ACA399655657G6PC1c.641T>A (p.Phe214Tyr)
c.*33T>A (n.*33T>A)
17g.42910993T>CCA399655658G6PC1c.641T>C (p.Phe214Ser)
c.*33T>C (n.*33T>C)
17g.42910993T>GCA399655660G6PC1c.641T>G (p.Phe214Cys)
c.*33T>G (n.*33T>G)
17g.42910994C>ACA399655661G6PC1c.642C>A (p.Phe214Leu)
c.*34C>A (n.*34C>A)
17g.42910994C=CA2260697347G6PC1c.642C= (p.Phe214=)
c.*34C= (n.*34C=)
17g.42910994C>GCA399655663G6PC1c.642C>G (p.Phe214Leu)
c.*34C>G (n.*34C>G)
17g.42910994C>TCA500104639G6PC1c.642C>T (p.Phe214=)
c.*34C>T (n.*34C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42910995T>ACA399655665G6PC1c.643T>A (p.Phe215Ile)
c.*35T>A (n.*35T>A)
17g.42910995T>CCA8587630G6PC1c.643T>C (p.Phe215Leu)
c.*35T>C (n.*35T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42910995T>GCA399655667G6PC1c.643T>G (p.Phe215Val)
c.*35T>G (n.*35T>G)
17g.42910995T=CA2260697348G6PC1c.643T= (p.Phe215=)
c.*35T= (n.*35T=)
17g.42910996T>ACA399655669G6PC1c.644T>A (p.Phe215Tyr)
c.*36T>A (n.*36T>A)
17g.42910996T>CCA399655671G6PC1c.644T>C (p.Phe215Ser)
c.*36T>C (n.*36T>C)
17g.42910996T>GCA399655672G6PC1c.644T>G (p.Phe215Cys)
c.*36T>G (n.*36T>G)
17g.42910997C>ACA399655674G6PC1c.645C>A (p.Phe215Leu)
c.*37C>A (n.*37C>A)
17g.42910997C>GCA399655675G6PC1c.645C>G (p.Phe215Leu)
c.*37C>G (n.*37C>G)
17g.42910997C>TCA500104649G6PC1c.645C>T (p.Phe215=)
c.*37C>T (n.*37C>T)
 gnomAD v4
17g.42910998C>ACA399655677G6PC1c.646C>A (p.Leu216Met)
c.*38C>A (n.*38C>A)
17g.42910998C=CA2260697349G6PC1c.646C= (p.Leu216=)
c.*38C= (n.*38C=)
17g.42910998C>GCA399655678G6PC1c.646C>G (p.Leu216Val)
c.*38C>G (n.*38C>G)
17g.42910998C>TCA8587631G6PC1c.646C>T (p.Leu216=)
c.*38C>T (n.*38C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42910999T>ACA399655682G6PC1c.647T>A (p.Leu216Gln)
c.*39T>A (n.*39T>A)
17g.42910999T>CCA399655683G6PC1c.647T>C (p.Leu216Pro)
c.*39T>C (n.*39T>C)
17g.42910999T>GCA399655681G6PC1c.647T>G (p.Leu216Arg)
c.*39T>G (n.*39T>G)
17g.42911000G>ACA500104657G6PC1c.648G>A (p.Leu216=)
c.*40G>A (n.*40G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.42911000G>CCA500104655G6PC1c.648G>C (p.Leu216=)
c.*40G>C (n.*40G>C)
17g.42911000G=CA2260697350G6PC1c.648G= (p.Leu216=)
c.*40G= (n.*40G=)
17g.42911000G>TCA256183G6PC1c.648G>T (p.Leu216=)
c.*40G>T (n.*40G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911001T>ACA399655686G6PC1c.649T>A (p.Phe217Ile)
c.*41T>A (n.*41T>A)
17g.42911001T>CCA399655688G6PC1c.649T>C (p.Phe217Leu)
c.*41T>C (n.*41T>C)
 gnomAD v3 gnomAD v4
17g.42911001T>GCA399655689G6PC1c.649T>G (p.Phe217Val)
c.*41T>G (n.*41T>G)
17g.42911002T>ACA399655690G6PC1c.650T>A (p.Phe217Tyr)
c.*42T>A (n.*42T>A)
17g.42911002T>CCA399655692G6PC1c.650T>C (p.Phe217Ser)
c.*42T>C (n.*42T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.42911002T>GCA399655694G6PC1c.650T>G (p.Phe217Cys)
c.*42T>G (n.*42T>G)
17g.42911002T=CA2260697351G6PC1c.650T= (p.Phe217=)
c.*42T= (n.*42T=)
17g.42911003C>ACA399655696G6PC1c.651C>A (p.Phe217Leu)
c.*43C>A (n.*43C>A)
17g.42911003C=CA2260697352G6PC1c.651C= (p.Phe217=)
c.*43C= (n.*43C=)
17g.42911003C>GCA399655697G6PC1c.651C>G (p.Phe217Leu)
c.*43C>G (n.*43C>G)
 gnomAD v4
17g.42911003C>TCA8587632G6PC1c.651C>T (p.Phe217=)
c.*43C>T (n.*43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911004A>CCA399655700G6PC1c.652A>C (p.Ser218Arg)
c.*44A>C (n.*44A>C)
17g.42911004A>GCA399655701G6PC1c.652A>G (p.Ser218Gly)
c.*44A>G (n.*44A>G)
17g.42911004A>TCA399655702G6PC1c.652A>T (p.Ser218Cys)
c.*44A>T (n.*44A>T)
17g.42911005G>ACA399655708G6PC1c.653G>A (p.Ser218Asn)
c.*45G>A (n.*45G>A)
17g.42911005G>CCA399655706G6PC1c.653G>C (p.Ser218Thr)
c.*45G>C (n.*45G>C)
 COSMIC
17g.42911005G>TCA399655704G6PC1c.653G>T (p.Ser218Ile)
c.*45G>T (n.*45G>T)
17g.42911006C>ACA399655709G6PC1c.654C>A (p.Ser218Arg)
c.*46C>A (n.*46C>A)
17g.42911006C>GCA399655710G6PC1c.654C>G (p.Ser218Arg)
c.*46C>G (n.*46C>G)
17g.42911006C>TCA500104675G6PC1c.654C>T (p.Ser218=)
c.*46C>T (n.*46C>T)
17g.42911007T>ACA399655712G6PC1c.655T>A (p.Phe219Ile)
c.*47T>A (n.*47T>A)
17g.42911007T>CCA399655714G6PC1c.655T>C (p.Phe219Leu)
c.*47T>C (n.*47T>C)
17g.42911007T>GCA399655715G6PC1c.655T>G (p.Phe219Val)
c.*47T>G (n.*47T>G)
17g.42911008T>ACA399655717G6PC1c.656T>A (p.Phe219Tyr)
c.*48T>A (n.*48T>A)
17g.42911008T>CCA399655719G6PC1c.656T>C (p.Phe219Ser)
c.*48T>C (n.*48T>C)
17g.42911008T>GCA399655720G6PC1c.656T>G (p.Phe219Cys)
c.*48T>G (n.*48T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911008T=CA2260697353G6PC1c.656T= (p.Phe219=)
c.*48T= (n.*48T=)
17g.42911009C>ACA399655722G6PC1c.657C>A (p.Phe219Leu)
c.*49C>A (n.*49C>A)
17g.42911009C=CA2260697354G6PC1c.657C= (p.Phe219=)
c.*49C= (n.*49C=)
17g.42911009C>GCA399655724G6PC1c.657C>G (p.Phe219Leu)
c.*49C>G (n.*49C>G)
 gnomAD v4
17g.42911009C>TCA8587633G6PC1c.657C>T (p.Phe219=)
c.*49C>T (n.*49C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911010G>ACA8587634G6PC1c.658G>A (p.Ala220Thr)
c.*50G>A (n.*50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911010G>CCA399655726G6PC1c.658G>C (p.Ala220Pro)
c.*50G>C (n.*50G>C)
17g.42911010G=CA2260697355G6PC1c.658G= (p.Ala220=)
c.*50G= (n.*50G=)
17g.42911010G>TCA399655727G6PC1c.658G>T (p.Ala220Ser)
c.*50G>T (n.*50G>T)
17g.42911011C>ACA399655732G6PC1c.659C>A (p.Ala220Asp)
c.*51C>A (n.*51C>A)
17g.42911011C=CA2260697356G6PC1c.659C= (p.Ala220=)
c.*51C= (n.*51C=)
17g.42911011C>GCA399655730G6PC1c.659C>G (p.Ala220Gly)
c.*51C>G (n.*51C>G)
 dbSNP
17g.42911011C>TCA8587635G6PC1c.659C>T (p.Ala220Val)
c.*51C>T (n.*51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911012C>ACA500104697G6PC1c.660C>A (p.Ala220=)
c.*52C>A (n.*52C>A)
17g.42911012C>GCA500104694G6PC1c.660C>G (p.Ala220=)
c.*52C>G (n.*52C>G)
17g.42911012C>TCA500104695G6PC1c.660C>T (p.Ala220=)
c.*52C>T (n.*52C>T)

Number of alleles fetched