Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.3659856_3659858delCA2576123920CTNSc.853-2_853del
c.100-2_100del
c.412-2_412del
n.2779-2_2779del
17g.3659858delCA2573153071CTNSc.853del
c.100del
c.412del
n.2779del
 ClinVar dbSNP
17g.3659858G>ACA397692899CTNSc.853G>A (p.Ala285Thr)
c.100G>A (p.Ala34Thr)
c.412G>A (p.Ala138Thr)
n.2779G>A
 gnomAD v4
17g.3659858G>CCA397692900CTNSc.853G>C (p.Ala285Pro)
c.100G>C (p.Ala34Pro)
c.412G>C (p.Ala138Pro)
n.2779G>C
17g.3659858G>TCA397692901CTNSc.853G>T (p.Ala285Ser)
c.100G>T (p.Ala34Ser)
c.412G>T (p.Ala138Ser)
n.2779G>T
17g.3659859C>ACA397692903CTNSc.854C>A (p.Ala285Asp)
c.101C>A (p.Ala34Asp)
c.413C>A (p.Ala138Asp)
n.2780C>A
 dbSNP gnomAD v4
17g.3659859C=CA2243978466CTNSc.854C= (p.Ala285=)
c.101C= (p.Ala34=)
c.413C= (p.Ala138=)
n.2780C=
17g.3659859C>GCA397692905CTNSc.854C>G (p.Ala285Gly)
c.101C>G (p.Ala34Gly)
c.413C>G (p.Ala138Gly)
n.2780C>G
17g.3659859C>TCA397692907CTNSc.854C>T (p.Ala285Val)
c.101C>T (p.Ala34Val)
c.413C>T (p.Ala138Val)
n.2780C>T
 dbSNP gnomAD v2 gnomAD v4
17g.3659860C>ACA497466479CTNSc.855C>A (p.Ala285=)
c.102C>A (p.Ala34=)
c.414C>A (p.Ala138=)
n.2781C>A
17g.3659860C=CA2243978468CTNSc.855C= (p.Ala285=)
c.102C= (p.Ala34=)
c.414C= (p.Ala138=)
n.2781C=
17g.3659860C>GCA497466481CTNSc.855C>G (p.Ala285=)
c.102C>G (p.Ala34=)
c.414C>G (p.Ala138=)
n.2781C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659860C>TCA497466482CTNSc.855C>T (p.Ala285=)
c.102C>T (p.Ala34=)
c.414C>T (p.Ala138=)
n.2781C>T
17g.3659861T>ACA397692909CTNSc.856T>A (p.Tyr286Asn)
c.103T>A (p.Tyr35Asn)
c.415T>A (p.Tyr139Asn)
n.2782T>A
17g.3659861T>CCA397692910CTNSc.856T>C (p.Tyr286His)
c.103T>C (p.Tyr35His)
c.415T>C (p.Tyr139His)
n.2782T>C
17g.3659861T>GCA397692912CTNSc.856T>G (p.Tyr286Asp)
c.103T>G (p.Tyr35Asp)
c.415T>G (p.Tyr139Asp)
n.2782T>G
17g.3659862A>CCA397692913CTNSc.857A>C (p.Tyr286Ser)
c.104A>C (p.Tyr35Ser)
c.416A>C (p.Tyr139Ser)
n.2783A>C
17g.3659862A>GCA397692915CTNSc.857A>G (p.Tyr286Cys)
c.104A>G (p.Tyr35Cys)
c.416A>G (p.Tyr139Cys)
n.2783A>G
17g.3659862A>TCA397692917CTNSc.857A>T (p.Tyr286Phe)
c.104A>T (p.Tyr35Phe)
c.416A>T (p.Tyr139Phe)
n.2783A>T
17g.3659863C>ACA397692921CTNSc.858C>A (p.Tyr286Ter)
c.105C>A (p.Tyr35Ter)
c.417C>A (p.Tyr139Ter)
n.2784C>A
17g.3659863C=CA2243978472CTNSc.858C= (p.Tyr286=)
c.105C= (p.Tyr35=)
c.417C= (p.Tyr139=)
n.2784C=
17g.3659863C>GCA397692919CTNSc.858C>G (p.Tyr286Ter)
c.105C>G (p.Tyr35Ter)
c.417C>G (p.Tyr139Ter)
n.2784C>G
17g.3659863C>TCA497466488CTNSc.858C>T (p.Tyr286=)
c.105C>T (p.Tyr35=)
c.417C>T (p.Tyr139=)
n.2784C>T
 ClinVar dbSNP
17g.3659864A=CA2243978476CTNSc.859A= (p.Met287=)
c.106A= (p.Met36=)
c.418A= (p.Met140=)
n.2785A=
17g.3659864A>CCA287019786CTNSc.859A>C (p.Met287Leu)
c.106A>C (p.Met36Leu)
c.418A>C (p.Met140Leu)
n.2785A>C
 dbSNP
17g.3659864A>GCA287019791CTNSc.859A>G (p.Met287Val)
c.106A>G (p.Met36Val)
c.418A>G (p.Met140Val)
n.2785A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659864A>TCA397692924CTNSc.859A>T (p.Met287Leu)
c.106A>T (p.Met36Leu)
c.418A>T (p.Met140Leu)
n.2785A>T
17g.3659865T>ACA397692927CTNSc.860T>A (p.Met287Lys)
c.107T>A (p.Met36Lys)
c.419T>A (p.Met140Lys)
n.2786T>A
17g.3659865T>CCA8291941CTNSc.860T>C (p.Met287Thr)
c.107T>C (p.Met36Thr)
c.419T>C (p.Met140Thr)
n.2786T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659865T>GCA397692930CTNSc.860T>G (p.Met287Arg)
c.107T>G (p.Met36Arg)
c.419T>G (p.Met140Arg)
n.2786T>G
17g.3659865T=CA2243978478CTNSc.860T= (p.Met287=)
c.107T= (p.Met36=)
c.419T= (p.Met140=)
n.2786T=
17g.3659866G>ACA397692931CTNSc.861G>A (p.Met287Ile)
c.108G>A (p.Met36Ile)
c.420G>A (p.Met140Ile)
n.2787G>A
 gnomAD v4
17g.3659866G>CCA287019799CTNSc.861G>C (p.Met287Ile)
c.108G>C (p.Met36Ile)
c.420G>C (p.Met140Ile)
n.2787G>C
 dbSNP gnomAD v3 gnomAD v4
17g.3659866G=CA2243978481CTNSc.861G= (p.Met287=)
c.108G= (p.Met36=)
c.420G= (p.Met140=)
n.2787G=
17g.3659866G>TCA397692934CTNSc.861G>T (p.Met287Ile)
c.108G>T (p.Met36Ile)
c.420G>T (p.Met140Ile)
n.2787G>T
17g.3659867A>CCA397692936CTNSc.862A>C (p.Asn288His)
c.109A>C (p.Asn37His)
c.421A>C (p.Asn141His)
n.2788A>C
17g.3659867A>GCA397692938CTNSc.862A>G (p.Asn288Asp)
c.109A>G (p.Asn37Asp)
c.421A>G (p.Asn141Asp)
n.2788A>G
17g.3659867A>TCA397692940CTNSc.862A>T (p.Asn288Tyr)
c.109A>T (p.Asn37Tyr)
c.421A>T (p.Asn141Tyr)
n.2788A>T
17g.3659868A=CA2243978483CTNSc.863A= (p.Asn288=)
c.110A= (p.Asn37=)
c.422A= (p.Asn141=)
n.2789A=
17g.3659868A>CCA397692942CTNSc.863A>C (p.Asn288Thr)
c.110A>C (p.Asn37Thr)
c.422A>C (p.Asn141Thr)
n.2789A>C
17g.3659868A>GCA397692943CTNSc.863A>G (p.Asn288Ser)
c.110A>G (p.Asn37Ser)
c.422A>G (p.Asn141Ser)
n.2789A>G
 dbSNP
17g.3659868A>TCA397692945CTNSc.863A>T (p.Asn288Ile)
c.110A>T (p.Asn37Ile)
c.422A>T (p.Asn141Ile)
n.2789A>T
17g.3659869C>ACA397692947CTNSc.864C>A (p.Asn288Lys)
c.111C>A (p.Asn37Lys)
c.423C>A (p.Asn141Lys)
n.2790C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.3659869C=CA2243978485CTNSc.864C= (p.Asn288=)
c.111C= (p.Asn37=)
c.423C= (p.Asn141=)
n.2790C=
17g.3659869C>GCA397692949CTNSc.864C>G (p.Asn288Lys)
c.111C>G (p.Asn37Lys)
c.423C>G (p.Asn141Lys)
n.2790C>G
17g.3659869C>TCA497466502CTNSc.864C>T (p.Asn288=)
c.111C>T (p.Asn37=)
c.423C>T (p.Asn141=)
n.2790C>T
17g.3659870T>ACA397692951CTNSc.865T>A (p.Phe289Ile)
c.112T>A (p.Phe38Ile)
c.424T>A (p.Phe142Ile)
n.2791T>A
17g.3659870T>CCA397692953CTNSc.865T>C (p.Phe289Leu)
c.112T>C (p.Phe38Leu)
c.424T>C (p.Phe142Leu)
n.2791T>C
 gnomAD v4
17g.3659870T>GCA397692954CTNSc.865T>G (p.Phe289Val)
c.112T>G (p.Phe38Val)
c.424T>G (p.Phe142Val)
n.2791T>G
 gnomAD v4
17g.3659873dupCA913010138CTNSc.868dup (p.Tyr290LeufsTer6)
c.115dup (p.Tyr39LeufsTer6)
c.427dup (p.Tyr143LeufsTer6)
n.2794dup
17g.3659871T>ACA397692957CTNSc.866T>A (p.Phe289Tyr)
c.113T>A (p.Phe38Tyr)
c.425T>A (p.Phe142Tyr)
n.2792T>A
17g.3659871T>CCA397692959CTNSc.866T>C (p.Phe289Ser)
c.113T>C (p.Phe38Ser)
c.425T>C (p.Phe142Ser)
n.2792T>C
17g.3659871T>GCA397692961CTNSc.866T>G (p.Phe289Cys)
c.113T>G (p.Phe38Cys)
c.425T>G (p.Phe142Cys)
n.2792T>G
17g.3659872T>ACA397692963CTNSc.867T>A (p.Phe289Leu)
c.114T>A (p.Phe38Leu)
c.426T>A (p.Phe142Leu)
n.2793T>A
17g.3659872T>CCA8291942CTNSc.867T>C (p.Phe289=)
c.114T>C (p.Phe38=)
c.426T>C (p.Phe142=)
n.2793T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659872T>GCA397692966CTNSc.867T>G (p.Phe289Leu)
c.114T>G (p.Phe38Leu)
c.426T>G (p.Phe142Leu)
n.2793T>G
17g.3659872T=CA2243978486CTNSc.867T= (p.Phe289=)
c.114T= (p.Phe38=)
c.426T= (p.Phe142=)
n.2793T=
17g.3659873T>ACA397692969CTNSc.868T>A (p.Tyr290Asn)
c.115T>A (p.Tyr39Asn)
c.427T>A (p.Tyr143Asn)
n.2794T>A
17g.3659873T>CCA397692971CTNSc.868T>C (p.Tyr290His)
c.115T>C (p.Tyr39His)
c.427T>C (p.Tyr143His)
n.2794T>C
17g.3659873T>GCA397692973CTNSc.868T>G (p.Tyr290Asp)
c.115T>G (p.Tyr39Asp)
c.427T>G (p.Tyr143Asp)
n.2794T>G
17g.3659873T=CA2243978489CTNSc.868T= (p.Tyr290=)
c.115T= (p.Tyr39=)
c.427T= (p.Tyr143=)
n.2794T=
17g.3659874A>CCA397692974CTNSc.869A>C (p.Tyr290Ser)
c.116A>C (p.Tyr39Ser)
c.428A>C (p.Tyr143Ser)
n.2795A>C
 ClinVar gnomAD v4
17g.3659874A>GCA397692977CTNSc.869A>G (p.Tyr290Cys)
c.116A>G (p.Tyr39Cys)
c.428A>G (p.Tyr143Cys)
n.2795A>G
17g.3659874A>TCA397692976CTNSc.869A>T (p.Tyr290Phe)
c.116A>T (p.Tyr39Phe)
c.428A>T (p.Tyr143Phe)
n.2795A>T
17g.3659874dupCA658823875CTNSc.869dup (p.Tyr290Ter)
c.116dup (p.Tyr39Ter)
c.428dup (p.Tyr143Ter)
n.2795dup
 ClinVar dbSNP
17g.3659875C>ACA397692980CTNSc.870C>A (p.Tyr290Ter)
c.117C>A (p.Tyr39Ter)
c.429C>A (p.Tyr143Ter)
n.2796C>A
17g.3659875C=CA2243978497CTNSc.870C= (p.Tyr290=)
c.117C= (p.Tyr39=)
c.429C= (p.Tyr143=)
n.2796C=
17g.3659875C>GCA397692982CTNSc.870C>G (p.Tyr290Ter)
c.117C>G (p.Tyr39Ter)
c.429C>G (p.Tyr143Ter)
n.2796C>G
 ClinVar dbSNP
17g.3659875C>TCA8291943CTNSc.870C>T (p.Tyr290=)
c.117C>T (p.Tyr39=)
c.429C>T (p.Tyr143=)
n.2796C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659876delCA2576123921CTNSc.871del (p.Tyr291ThrfsTer?)
c.118del (p.Tyr40ThrfsTer?)
c.430del (p.Tyr144ThrfsTer?)
n.2797del
17g.3659876T>ACA397692985CTNSc.871T>A (p.Tyr291Asn)
c.118T>A (p.Tyr40Asn)
c.430T>A (p.Tyr144Asn)
n.2797T>A
 dbSNP
17g.3659876T>CCA8291944CTNSc.871T>C (p.Tyr291His)
c.118T>C (p.Tyr40His)
c.430T>C (p.Tyr144His)
n.2797T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659876T>GCA397692987CTNSc.871T>G (p.Tyr291Asp)
c.118T>G (p.Tyr40Asp)
c.430T>G (p.Tyr144Asp)
n.2797T>G
17g.3659876T=CA2243978500CTNSc.871T= (p.Tyr291=)
c.118T= (p.Tyr40=)
c.430T= (p.Tyr144=)
n.2797T=
17g.3659877A=CA2243978504CTNSc.872A= (p.Tyr291=)
c.119A= (p.Tyr40=)
c.431A= (p.Tyr144=)
n.2798A=
17g.3659877A>CCA8291946CTNSc.872A>C (p.Tyr291Ser)
c.119A>C (p.Tyr40Ser)
c.431A>C (p.Tyr144Ser)
n.2798A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659877A>GCA8291945CTNSc.872A>G (p.Tyr291Cys)
c.119A>G (p.Tyr40Cys)
c.431A>G (p.Tyr144Cys)
n.2798A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659877A>TCA397692990CTNSc.872A>T (p.Tyr291Phe)
c.119A>T (p.Tyr40Phe)
c.431A>T (p.Tyr144Phe)
n.2798A>T
17g.3659878C>ACA397692991CTNSc.873C>A (p.Tyr291Ter)
c.120C>A (p.Tyr40Ter)
c.432C>A (p.Tyr144Ter)
n.2799C>A
17g.3659878C>GCA397692993CTNSc.873C>G (p.Tyr291Ter)
c.120C>G (p.Tyr40Ter)
c.432C>G (p.Tyr144Ter)
n.2799C>G
17g.3659878C>TCA497466523CTNSc.873C>T (p.Tyr291=)
c.120C>T (p.Tyr40=)
c.432C>T (p.Tyr144=)
n.2799C>T
17g.3659879A=CA2243978507CTNSc.874A= (p.Lys292=)
c.121A= (p.Lys41=)
c.433A= (p.Lys145=)
n.2800A=
17g.3659879A>CCA397692995CTNSc.874A>C (p.Lys292Gln)
c.121A>C (p.Lys41Gln)
c.433A>C (p.Lys145Gln)
n.2800A>C
17g.3659879A>GCA287019835CTNSc.874A>G (p.Lys292Glu)
c.121A>G (p.Lys41Glu)
c.433A>G (p.Lys145Glu)
n.2800A>G
 dbSNP
17g.3659879A>TCA397692997CTNSc.874A>T (p.Lys292Ter)
c.121A>T (p.Lys41Ter)
c.433A>T (p.Lys145Ter)
n.2800A>T
17g.3659882dupCA2695201209CTNSc.877dup (p.Ser293LysfsTer3)
c.124dup (p.Ser42LysfsTer3)
c.436dup (p.Ser146LysfsTer3)
n.2803dup
 ClinVar
17g.3659880A=CA2243978509CTNSc.875A= (p.Lys292=)
c.122A= (p.Lys41=)
c.434A= (p.Lys145=)
n.2801A=
17g.3659880A>CCA397693001CTNSc.875A>C (p.Lys292Thr)
c.122A>C (p.Lys41Thr)
c.434A>C (p.Lys145Thr)
n.2801A>C
17g.3659880A>GCA287019837CTNSc.875A>G (p.Lys292Arg)
c.122A>G (p.Lys41Arg)
c.434A>G (p.Lys145Arg)
n.2801A>G
 dbSNP
17g.3659880A>TCA397692999CTNSc.875A>T (p.Lys292Ile)
c.122A>T (p.Lys41Ile)
c.434A>T (p.Lys145Ile)
n.2801A>T
17g.3659881A>CCA397693003CTNSc.876A>C (p.Lys292Asn)
c.123A>C (p.Lys41Asn)
c.435A>C (p.Lys145Asn)
n.2802A>C
17g.3659881A>GCA497466532CTNSc.876A>G (p.Lys292=)
c.123A>G (p.Lys41=)
c.435A>G (p.Lys145=)
n.2802A>G
17g.3659881A>TCA397693005CTNSc.876A>T (p.Lys292Asn)
c.123A>T (p.Lys41Asn)
c.435A>T (p.Lys145Asn)
n.2802A>T
17g.3659882A=CA2243978511CTNSc.877A= (p.Ser293=)
c.124A= (p.Ser42=)
c.436A= (p.Ser146=)
n.2803A=
17g.3659882A>CCA397693006CTNSc.877A>C (p.Ser293Arg)
c.124A>C (p.Ser42Arg)
c.436A>C (p.Ser146Arg)
n.2803A>C
17g.3659882A>GCA8291947CTNSc.877A>G (p.Ser293Gly)
c.124A>G (p.Ser42Gly)
c.436A>G (p.Ser146Gly)
n.2803A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659882A>TCA397693007CTNSc.877A>T (p.Ser293Cys)
c.124A>T (p.Ser42Cys)
c.436A>T (p.Ser146Cys)
n.2803A>T
17g.3659883G>ACA397693009CTNSc.878G>A (p.Ser293Asn)
c.125G>A (p.Ser42Asn)
c.437G>A (p.Ser146Asn)
n.2804G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.3659883G>CCA397693011CTNSc.878G>C (p.Ser293Thr)
c.125G>C (p.Ser42Thr)
c.437G>C (p.Ser146Thr)
n.2804G>C
17g.3659883G=CA2243978515CTNSc.878G= (p.Ser293=)
c.125G= (p.Ser42=)
c.437G= (p.Ser146=)
n.2804G=
17g.3659883G>TCA397693012CTNSc.878G>T (p.Ser293Ile)
c.125G>T (p.Ser42Ile)
c.437G>T (p.Ser146Ile)
n.2804G>T
17g.3659884C>ACA397693014CTNSc.879C>A (p.Ser293Arg)
c.126C>A (p.Ser42Arg)
c.438C>A (p.Ser146Arg)
n.2805C>A
17g.3659884C=CA2243978516CTNSc.879C= (p.Ser293=)
c.126C= (p.Ser42=)
c.438C= (p.Ser146=)
n.2805C=
17g.3659884C>GCA397693015CTNSc.879C>G (p.Ser293Arg)
c.126C>G (p.Ser42Arg)
c.438C>G (p.Ser146Arg)
n.2805C>G
17g.3659884C>TCA8291948CTNSc.879C>T (p.Ser293=)
c.126C>T (p.Ser42=)
c.438C>T (p.Ser146=)
n.2805C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659885A>CCA397693018CTNSc.880A>C (p.Thr294Pro)
c.127A>C (p.Thr43Pro)
c.439A>C (p.Thr147Pro)
n.2806A>C
17g.3659885A>GCA397693019CTNSc.880A>G (p.Thr294Ala)
c.127A>G (p.Thr43Ala)
c.439A>G (p.Thr147Ala)
n.2806A>G
17g.3659885A>TCA397693021CTNSc.880A>T (p.Thr294Ser)
c.127A>T (p.Thr43Ser)
c.439A>T (p.Thr147Ser)
n.2806A>T
17g.3659886C>ACA397693024CTNSc.881C>A (p.Thr294Asn)
c.128C>A (p.Thr43Asn)
c.440C>A (p.Thr147Asn)
n.2807C>A
17g.3659886C=CA2243978517CTNSc.881C= (p.Thr294=)
c.128C= (p.Thr43=)
c.440C= (p.Thr147=)
n.2807C=
17g.3659886C>GCA397693025CTNSc.881C>G (p.Thr294Ser)
c.128C>G (p.Thr43Ser)
c.440C>G (p.Thr147Ser)
n.2807C>G
17g.3659886C>TCA397693023CTNSc.881C>T (p.Thr294Ile)
c.128C>T (p.Thr43Ile)
c.440C>T (p.Thr147Ile)
n.2807C>T
 dbSNP gnomAD v2 gnomAD v4
17g.3659887T>ACA497466546CTNSc.882T>A (p.Thr294=)
c.129T>A (p.Thr43=)
c.441T>A (p.Thr147=)
n.2808T>A
17g.3659887T>CCA497466548CTNSc.882T>C (p.Thr294=)
c.129T>C (p.Thr43=)
c.441T>C (p.Thr147=)
n.2808T>C
 gnomAD v4
17g.3659887T>GCA497466550CTNSc.882T>G (p.Thr294=)
c.129T>G (p.Thr43=)
c.441T>G (p.Thr147=)
n.2808T>G
17g.3659887_3659888dupCA2243978519CTNSc.882_883dup (p.Glu295ValfsTer?)
c.129_130dup (p.Glu44ValfsTer?)
c.441_442dup (p.Glu148ValfsTer?)
n.2808_2809dup
 dbSNP gnomAD v4
17g.3659888G>ACA287019843CTNSc.883G>A (p.Glu295Lys)
c.130G>A (p.Glu44Lys)
c.442G>A (p.Glu148Lys)
n.2809G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.3659888G>CCA397693028CTNSc.883G>C (p.Glu295Gln)
c.130G>C (p.Glu44Gln)
c.442G>C (p.Glu148Gln)
n.2809G>C
17g.3659888G=CA2243978522CTNSc.883G= (p.Glu295=)
c.130G= (p.Glu44=)
c.442G= (p.Glu148=)
n.2809G=
17g.3659888G>TCA397693029CTNSc.883G>T (p.Glu295Ter)
c.130G>T (p.Glu44Ter)
c.442G>T (p.Glu148Ter)
n.2809G>T
17g.3659889A=CA2243978525CTNSc.884A= (p.Glu295=)
c.131A= (p.Glu44=)
c.443A= (p.Glu148=)
n.2810A=
17g.3659889A>CCA397693031CTNSc.884A>C (p.Glu295Ala)
c.131A>C (p.Glu44Ala)
c.443A>C (p.Glu148Ala)
n.2810A>C
17g.3659889A>GCA397693033CTNSc.884A>G (p.Glu295Gly)
c.131A>G (p.Glu44Gly)
c.443A>G (p.Glu148Gly)
n.2810A>G
17g.3659889A>TCA397693035CTNSc.884A>T (p.Glu295Val)
c.131A>T (p.Glu44Val)
c.443A>T (p.Glu148Val)
n.2810A>T
17g.3659890G>ACA8291949CTNSc.885G>A (p.Glu295=)
c.132G>A (p.Glu44=)
c.444G>A (p.Glu148=)
n.2811G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659890G>CCA397693037CTNSc.885G>C (p.Glu295Asp)
c.132G>C (p.Glu44Asp)
c.444G>C (p.Glu148Asp)
n.2811G>C
17g.3659890G=CA2243978527CTNSc.885G= (p.Glu295=)
c.132G= (p.Glu44=)
c.444G= (p.Glu148=)
n.2811G=
17g.3659890G>TCA397693039CTNSc.885G>T (p.Glu295Asp)
c.132G>T (p.Glu44Asp)
c.444G>T (p.Glu148Asp)
n.2811G>T
17g.3659892dupCA287019845CTNSc.887dup (p.Trp297LeufsTer?)
c.134dup (p.Trp46LeufsTer?)
c.446dup (p.Trp150LeufsTer?)
n.2813dup
 dbSNP
17g.3659891G>ACA8291950CTNSc.886G>A (p.Gly296Ser)
c.133G>A (p.Gly45Ser)
c.445G>A (p.Gly149Ser)
n.2812G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659891G>CCA397693042CTNSc.886G>C (p.Gly296Arg)
c.133G>C (p.Gly45Arg)
c.445G>C (p.Gly149Arg)
n.2812G>C
17g.3659891G=CA2243978533CTNSc.886G= (p.Gly296=)
c.133G= (p.Gly45=)
c.445G= (p.Gly149=)
n.2812G=
17g.3659891G>TCA397693044CTNSc.886G>T (p.Gly296Cys)
c.133G>T (p.Gly45Cys)
c.445G>T (p.Gly149Cys)
n.2812G>T
17g.3659892G>ACA397693050CTNSc.887G>A (p.Gly296Asp)
c.134G>A (p.Gly45Asp)
c.446G>A (p.Gly149Asp)
n.2813G>A
17g.3659892G>CCA397693048CTNSc.887G>C (p.Gly296Ala)
c.134G>C (p.Gly45Ala)
c.446G>C (p.Gly149Ala)
n.2813G>C
17g.3659892G>TCA397693046CTNSc.887G>T (p.Gly296Val)
c.134G>T (p.Gly45Val)
c.446G>T (p.Gly149Val)
n.2813G>T
17g.3659893C>ACA497466564CTNSc.888C>A (p.Gly296=)
c.135C>A (p.Gly45=)
c.447C>A (p.Gly149=)
n.2814C>A
17g.3659893C>GCA497466565CTNSc.888C>G (p.Gly296=)
c.135C>G (p.Gly45=)
c.447C>G (p.Gly149=)
n.2814C>G
17g.3659893C>TCA497466567CTNSc.888C>T (p.Gly296=)
c.135C>T (p.Gly45=)
c.447C>T (p.Gly149=)
n.2814C>T
17g.3659894T>ACA397693052CTNSc.889T>A (p.Trp297Arg)
c.136T>A (p.Trp46Arg)
c.448T>A (p.Trp150Arg)
n.2815T>A
17g.3659894T>CCA397693054CTNSc.889T>C (p.Trp297Arg)
c.136T>C (p.Trp46Arg)
c.448T>C (p.Trp150Arg)
n.2815T>C
17g.3659894T>GCA397693056CTNSc.889T>G (p.Trp297Gly)
c.136T>G (p.Trp46Gly)
c.448T>G (p.Trp150Gly)
n.2815T>G
17g.3659895G>ACA287019849CTNSc.890G>A (p.Trp297Ter)
c.137G>A (p.Trp46Ter)
c.449G>A (p.Trp150Ter)
n.2816G>A
 ClinVar dbSNP gnomAD v4
17g.3659895G>CCA397693059CTNSc.890G>C (p.Trp297Ser)
c.137G>C (p.Trp46Ser)
c.449G>C (p.Trp150Ser)
n.2816G>C
17g.3659895G=CA2243978540CTNSc.890G= (p.Trp297=)
c.137G= (p.Trp46=)
c.449G= (p.Trp150=)
n.2816G=
17g.3659895G>TCA397693060CTNSc.890G>T (p.Trp297Leu)
c.137G>T (p.Trp46Leu)
c.449G>T (p.Trp150Leu)
n.2816G>T
17g.3659896G>ACA397693062CTNSc.891G>A (p.Trp297Ter)
c.138G>A (p.Trp46Ter)
c.450G>A (p.Trp150Ter)
n.2817G>A
17g.3659896G>CCA397693064CTNSc.891G>C (p.Trp297Cys)
c.138G>C (p.Trp46Cys)
c.450G>C (p.Trp150Cys)
n.2817G>C
 gnomAD v4
17g.3659896G>TCA397693066CTNSc.891G>T (p.Trp297Cys)
c.138G>T (p.Trp46Cys)
c.450G>T (p.Trp150Cys)
n.2817G>T
17g.3659897A=CA2243978542CTNSc.892A= (p.Ser298=)
c.139A= (p.Ser47=)
c.451A= (p.Ser151=)
n.2818A=
17g.3659897A>CCA397693068CTNSc.892A>C (p.Ser298Arg)
c.139A>C (p.Ser47Arg)
c.451A>C (p.Ser151Arg)
n.2818A>C
17g.3659897A>GCA397693069CTNSc.892A>G (p.Ser298Gly)
c.139A>G (p.Ser47Gly)
c.451A>G (p.Ser151Gly)
n.2818A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659897A>TCA397693071CTNSc.892A>T (p.Ser298Cys)
c.139A>T (p.Ser47Cys)
c.451A>T (p.Ser151Cys)
n.2818A>T
17g.3659898G>ACA397693073CTNSc.893G>A (p.Ser298Asn)
c.140G>A (p.Ser47Asn)
c.452G>A (p.Ser151Asn)
n.2819G>A
 dbSNP gnomAD v2 gnomAD v4
17g.3659898G>CCA397693076CTNSc.893G>C (p.Ser298Thr)
c.140G>C (p.Ser47Thr)
c.452G>C (p.Ser151Thr)
n.2819G>C
17g.3659898G=CA2243978543CTNSc.893G= (p.Ser298=)
c.140G= (p.Ser47=)
c.452G= (p.Ser151=)
n.2819G=
17g.3659898G>TCA397693075CTNSc.893G>T (p.Ser298Ile)
c.140G>T (p.Ser47Ile)
c.452G>T (p.Ser151Ile)
n.2819G>T
17g.3659899C>ACA397693079CTNSc.894C>A (p.Ser298Arg)
c.141C>A (p.Ser47Arg)
c.453C>A (p.Ser151Arg)
n.2820C>A
17g.3659899C>GCA397693081CTNSc.894C>G (p.Ser298Arg)
c.141C>G (p.Ser47Arg)
c.453C>G (p.Ser151Arg)
n.2820C>G
17g.3659899C>TCA497466578CTNSc.894C>T (p.Ser298=)
c.141C>T (p.Ser47=)
c.453C>T (p.Ser151=)
n.2820C>T
 gnomAD v4
17g.3659900A>CCA397693082CTNSc.895A>C (p.Ile299Leu)
c.142A>C (p.Ile48Leu)
c.454A>C (p.Ile152Leu)
n.2821A>C
17g.3659900A>GCA397693083CTNSc.895A>G (p.Ile299Val)
c.142A>G (p.Ile48Val)
c.454A>G (p.Ile152Val)
n.2821A>G
 gnomAD v4
17g.3659900A>TCA397693085CTNSc.895A>T (p.Ile299Phe)
c.142A>T (p.Ile48Phe)
c.454A>T (p.Ile152Phe)
n.2821A>T
17g.3659901T>ACA397693087CTNSc.896T>A (p.Ile299Asn)
c.143T>A (p.Ile48Asn)
c.455T>A (p.Ile152Asn)
n.2822T>A
17g.3659901T>CCA397693088CTNSc.896T>C (p.Ile299Thr)
c.143T>C (p.Ile48Thr)
c.455T>C (p.Ile152Thr)
n.2822T>C
 gnomAD v4
17g.3659901T>GCA397693089CTNSc.896T>G (p.Ile299Ser)
c.143T>G (p.Ile48Ser)
c.455T>G (p.Ile152Ser)
n.2822T>G
17g.3659902T>ACA497466585CTNSc.897T>A (p.Ile299=)
c.144T>A (p.Ile48=)
c.456T>A (p.Ile152=)
n.2823T>A
17g.3659902T>CCA8291951CTNSc.897T>C (p.Ile299=)
c.144T>C (p.Ile48=)
c.456T>C (p.Ile152=)
n.2823T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659902T>GCA397693091CTNSc.897T>G (p.Ile299Met)
c.144T>G (p.Ile48Met)
c.456T>G (p.Ile152Met)
n.2823T>G
17g.3659902T=CA2243978546CTNSc.897T= (p.Ile299=)
c.144T= (p.Ile48=)
c.456T= (p.Ile152=)
n.2823T=
17g.3659903G>ACA397693094CTNSc.898G>A (p.Gly300Ser)
c.145G>A (p.Gly49Ser)
c.457G>A (p.Gly153Ser)
n.2824G>A
17g.3659903G>CCA397693096CTNSc.898G>C (p.Gly300Arg)
c.145G>C (p.Gly49Arg)
c.457G>C (p.Gly153Arg)
n.2824G>C
17g.3659903G>TCA397693098CTNSc.898G>T (p.Gly300Cys)
c.145G>T (p.Gly49Cys)
c.457G>T (p.Gly153Cys)
n.2824G>T
17g.3659904G>ACA397693104CTNSc.899G>A (p.Gly300Asp)
c.146G>A (p.Gly49Asp)
c.458G>A (p.Gly153Asp)
n.2825G>A
 gnomAD v4
17g.3659904G>CCA397693102CTNSc.899G>C (p.Gly300Ala)
c.146G>C (p.Gly49Ala)
c.458G>C (p.Gly153Ala)
n.2825G>C
17g.3659904G>TCA397693100CTNSc.899G>T (p.Gly300Val)
c.146G>T (p.Gly49Val)
c.458G>T (p.Gly153Val)
n.2825G>T
17g.3659905C>ACA497466593CTNSc.900C>A (p.Gly300=)
c.147C>A (p.Gly49=)
c.459C>A (p.Gly153=)
n.2826C>A
17g.3659905C=CA2243978549CTNSc.900C= (p.Gly300=)
c.147C= (p.Gly49=)
c.459C= (p.Gly153=)
n.2826C=
17g.3659905C>GCA497466595CTNSc.900C>G (p.Gly300=)
c.147C>G (p.Gly49=)
c.459C>G (p.Gly153=)
n.2826C>G
17g.3659905C>TCA287019853CTNSc.900C>T (p.Gly300=)
c.147C>T (p.Gly49=)
c.459C>T (p.Gly153=)
n.2826C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659906A>CCA397693106CTNSc.901A>C (p.Asn301His)
c.148A>C (p.Asn50His)
c.460A>C (p.Asn154His)
n.2827A>C
17g.3659906A>GCA397693107CTNSc.901A>G (p.Asn301Asp)
c.148A>G (p.Asn50Asp)
c.460A>G (p.Asn154Asp)
n.2827A>G
17g.3659906A>TCA397693109CTNSc.901A>T (p.Asn301Tyr)
c.148A>T (p.Asn50Tyr)
c.460A>T (p.Asn154Tyr)
n.2827A>T
17g.3659907A=CA2243978552CTNSc.902A= (p.Asn301=)
c.149A= (p.Asn50=)
c.461A= (p.Asn154=)
n.2828A=
17g.3659907A>CCA397693111CTNSc.902A>C (p.Asn301Thr)
c.149A>C (p.Asn50Thr)
c.461A>C (p.Asn154Thr)
n.2828A>C
17g.3659907A>GCA8291952CTNSc.902A>G (p.Asn301Ser)
c.149A>G (p.Asn50Ser)
c.461A>G (p.Asn154Ser)
n.2828A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659907A>TCA397693112CTNSc.902A>T (p.Asn301Ile)
c.149A>T (p.Asn50Ile)
c.461A>T (p.Asn154Ile)
n.2828A>T
17g.3659908C>ACA397693116CTNSc.903C>A (p.Asn301Lys)
c.150C>A (p.Asn50Lys)
c.462C>A (p.Asn154Lys)
n.2829C>A
 gnomAD v4
17g.3659908C=CA2243978554CTNSc.903C= (p.Asn301=)
c.150C= (p.Asn50=)
c.462C= (p.Asn154=)
n.2829C=
17g.3659908C>GCA397693117CTNSc.903C>G (p.Asn301Lys)
c.150C>G (p.Asn50Lys)
c.462C>G (p.Asn154Lys)
n.2829C>G
17g.3659908C>TCA8291953CTNSc.903C>T (p.Asn301=)
c.150C>T (p.Asn50=)
c.462C>T (p.Asn154=)
n.2829C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659909G>ACA287019866CTNSc.904G>A (p.Val302Met)
c.151G>A (p.Val51Met)
c.463G>A (p.Val155Met)
n.2830G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659909G>CCA397693122CTNSc.904G>C (p.Val302Leu)
c.151G>C (p.Val51Leu)
c.463G>C (p.Val155Leu)
n.2830G>C
17g.3659909G=CA2243978555CTNSc.904G= (p.Val302=)
c.151G= (p.Val51=)
c.463G= (p.Val155=)
n.2830G=
17g.3659909G>TCA397693124CTNSc.904G>T (p.Val302Leu)
c.151G>T (p.Val51Leu)
c.463G>T (p.Val155Leu)
n.2830G>T
17g.3659910T>ACA397693129CTNSc.905T>A (p.Val302Glu)
c.152T>A (p.Val51Glu)
c.464T>A (p.Val155Glu)
n.2831T>A
17g.3659910T>CCA397693128CTNSc.905T>C (p.Val302Ala)
c.152T>C (p.Val51Ala)
c.464T>C (p.Val155Ala)
n.2831T>C
17g.3659910T>GCA397693126CTNSc.905T>G (p.Val302Gly)
c.152T>G (p.Val51Gly)
c.464T>G (p.Val155Gly)
n.2831T>G
17g.3659911G>ACA497466611CTNSc.906G>A (p.Val302=)
c.153G>A (p.Val51=)
c.465G>A (p.Val155=)
n.2832G>A
 dbSNP gnomAD v3 gnomAD v4
17g.3659911G>CCA497466613CTNSc.906G>C (p.Val302=)
c.153G>C (p.Val51=)
c.465G>C (p.Val155=)
n.2832G>C
 gnomAD v4
17g.3659911G=CA2243978559CTNSc.906G= (p.Val302=)
c.153G= (p.Val51=)
c.465G= (p.Val155=)
n.2832G=
17g.3659911G>TCA497466610CTNSc.906G>T (p.Val302=)
c.153G>T (p.Val51=)
c.465G>T (p.Val155=)
n.2832G>T
17g.3659912C>ACA397693131CTNSc.907C>A (p.Leu303Ile)
c.154C>A (p.Leu52Ile)
c.466C>A (p.Leu156Ile)
n.2833C>A
17g.3659912C>GCA397693132CTNSc.907C>G (p.Leu303Val)
c.154C>G (p.Leu52Val)
c.466C>G (p.Leu156Val)
n.2833C>G
17g.3659912C>TCA397693134CTNSc.907C>T (p.Leu303Phe)
c.154C>T (p.Leu52Phe)
c.466C>T (p.Leu156Phe)
n.2833C>T
 ClinVar dbSNP gnomAD v4
17g.3659913T>ACA397693135CTNSc.908T>A (p.Leu303His)
c.155T>A (p.Leu52His)
c.467T>A (p.Leu156His)
n.2834T>A
17g.3659913T>CCA397693136CTNSc.908T>C (p.Leu303Pro)
c.155T>C (p.Leu52Pro)
c.467T>C (p.Leu156Pro)
n.2834T>C
17g.3659913T>GCA397693138CTNSc.908T>G (p.Leu303Arg)
c.155T>G (p.Leu52Arg)
c.467T>G (p.Leu156Arg)
n.2834T>G
17g.3659914C>ACA497466619CTNSc.909C>A (p.Leu303=)
c.156C>A (p.Leu52=)
c.468C>A (p.Leu156=)
n.2835C>A
17g.3659914C=CA2243978560CTNSc.909C= (p.Leu303=)
c.156C= (p.Leu52=)
c.468C= (p.Leu156=)
n.2835C=
17g.3659914C>GCA497466618CTNSc.909C>G (p.Leu303=)
c.156C>G (p.Leu52=)
c.468C>G (p.Leu156=)
n.2835C>G
17g.3659914C>TCA497466616CTNSc.909C>T (p.Leu303=)
c.156C>T (p.Leu52=)
c.468C>T (p.Leu156=)
n.2835C>T
 ClinVar dbSNP gnomAD v4
17g.3659915C>ACA397693141CTNSc.910C>A (p.Leu304Met)
c.157C>A (p.Leu53Met)
c.469C>A (p.Leu157Met)
n.2836C>A
17g.3659915C>GCA397693140CTNSc.910C>G (p.Leu304Val)
c.157C>G (p.Leu53Val)
c.469C>G (p.Leu157Val)
n.2836C>G
17g.3659915C>TCA497466622CTNSc.910C>T (p.Leu304=)
c.157C>T (p.Leu53=)
c.469C>T (p.Leu157=)
n.2836C>T
17g.3659916T>ACA397693143CTNSc.911T>A (p.Leu304Gln)
c.158T>A (p.Leu53Gln)
c.470T>A (p.Leu157Gln)
n.2837T>A
17g.3659916T>CCA397693145CTNSc.911T>C (p.Leu304Pro)
c.158T>C (p.Leu53Pro)
c.470T>C (p.Leu157Pro)
n.2837T>C
 ClinVar
17g.3659916T>GCA397693147CTNSc.911T>G (p.Leu304Arg)
c.158T>G (p.Leu53Arg)
c.470T>G (p.Leu157Arg)
n.2837T>G
17g.3659917G>ACA497466627CTNSc.912G>A (p.Leu304=)
c.159G>A (p.Leu53=)
c.471G>A (p.Leu157=)
n.2838G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.3659917G>CCA497466630CTNSc.912G>C (p.Leu304=)
c.159G>C (p.Leu53=)
c.471G>C (p.Leu157=)
n.2838G>C
17g.3659917G=CA2243978561CTNSc.912G= (p.Leu304=)
c.159G= (p.Leu53=)
c.471G= (p.Leu157=)
n.2838G=
17g.3659917G>TCA497466629CTNSc.912G>T (p.Leu304=)
c.159G>T (p.Leu53=)
c.471G>T (p.Leu157=)
n.2838G>T
17g.3659918G>ACA397693149CTNSc.913G>A (p.Asp305Asn)
c.160G>A (p.Asp54Asn)
c.472G>A (p.Asp158Asn)
n.2839G>A
17g.3659918G>CCA397693151CTNSc.913G>C (p.Asp305His)
c.160G>C (p.Asp54His)
c.472G>C (p.Asp158His)
n.2839G>C
17g.3659918G>TCA397693154CTNSc.913G>T (p.Asp305Tyr)
c.160G>T (p.Asp54Tyr)
c.472G>T (p.Asp158Tyr)
n.2839G>T
17g.3659919A=CA2243978563CTNSc.914A= (p.Asp305=)
c.161A= (p.Asp54=)
c.473A= (p.Asp158=)
n.2840A=
17g.3659919A>CCA397693156CTNSc.914A>C (p.Asp305Ala)
c.161A>C (p.Asp54Ala)
c.473A>C (p.Asp158Ala)
n.2840A>C
17g.3659919A>GCA397693160CTNSc.914A>G (p.Asp305Gly)
c.161A>G (p.Asp54Gly)
c.473A>G (p.Asp158Gly)
n.2840A>G
 ClinVar dbSNP
17g.3659919A>TCA397693158CTNSc.914A>T (p.Asp305Val)
c.161A>T (p.Asp54Val)
c.473A>T (p.Asp158Val)
n.2840A>T
17g.3659920C>ACA397693162CTNSc.915C>A (p.Asp305Glu)
c.162C>A (p.Asp54Glu)
c.474C>A (p.Asp158Glu)
n.2841C>A
17g.3659920C>GCA397693164CTNSc.915C>G (p.Asp305Glu)
c.162C>G (p.Asp54Glu)
c.474C>G (p.Asp158Glu)
n.2841C>G
17g.3659920C>TCA497466637CTNSc.915C>T (p.Asp305=)
c.162C>T (p.Asp54=)
c.474C>T (p.Asp158=)
n.2841C>T
17g.3659921T>ACA397693165CTNSc.916T>A (p.Phe306Ile)
c.163T>A (p.Phe55Ile)
c.475T>A (p.Phe159Ile)
n.2842T>A
 ClinVar
17g.3659921T>CCA287019871CTNSc.916T>C (p.Phe306Leu)
c.163T>C (p.Phe55Leu)
c.475T>C (p.Phe159Leu)
n.2842T>C
 dbSNP gnomAD v4
17g.3659921T>GCA397693168CTNSc.916T>G (p.Phe306Val)
c.163T>G (p.Phe55Val)
c.475T>G (p.Phe159Val)
n.2842T>G
17g.3659921T=CA2243978566CTNSc.916T= (p.Phe306=)
c.163T= (p.Phe55=)
c.475T= (p.Phe159=)
n.2842T=
17g.3659922T>ACA397693170CTNSc.917T>A (p.Phe306Tyr)
c.164T>A (p.Phe55Tyr)
c.476T>A (p.Phe159Tyr)
n.2843T>A
17g.3659922T>CCA397693172CTNSc.917T>C (p.Phe306Ser)
c.164T>C (p.Phe55Ser)
c.476T>C (p.Phe159Ser)
n.2843T>C
17g.3659922T>GCA397693173CTNSc.917T>G (p.Phe306Cys)
c.164T>G (p.Phe55Cys)
c.476T>G (p.Phe159Cys)
n.2843T>G
17g.3659923C>ACA397693175CTNSc.918C>A (p.Phe306Leu)
c.165C>A (p.Phe55Leu)
c.477C>A (p.Phe159Leu)
n.2844C>A
17g.3659923C>GCA397693179CTNSc.918C>G (p.Phe306Leu)
c.165C>G (p.Phe55Leu)
c.477C>G (p.Phe159Leu)
n.2844C>G
17g.3659923C>TCA497466645CTNSc.918C>T (p.Phe306=)
c.165C>T (p.Phe55=)
c.477C>T (p.Phe159=)
n.2844C>T
 ClinVar
17g.3659924A>CCA397693186CTNSc.919A>C (p.Thr307Pro)
c.166A>C (p.Thr56Pro)
c.478A>C (p.Thr160Pro)
n.2845A>C
17g.3659924A>GCA397693184CTNSc.919A>G (p.Thr307Ala)
c.166A>G (p.Thr56Ala)
c.478A>G (p.Thr160Ala)
n.2845A>G
17g.3659924A>TCA397693182CTNSc.919A>T (p.Thr307Ser)
c.166A>T (p.Thr56Ser)
c.478A>T (p.Thr160Ser)
n.2845A>T
17g.3659925C>ACA397693188CTNSc.920C>A (p.Thr307Asn)
c.167C>A (p.Thr56Asn)
c.479C>A (p.Thr160Asn)
n.2846C>A
17g.3659925C>GCA397693192CTNSc.920C>G (p.Thr307Ser)
c.167C>G (p.Thr56Ser)
c.479C>G (p.Thr160Ser)
n.2846C>G
17g.3659925C>TCA397693190CTNSc.920C>T (p.Thr307Ile)
c.167C>T (p.Thr56Ile)
c.479C>T (p.Thr160Ile)
n.2846C>T
17g.3659926C>ACA497466652CTNSc.921C>A (p.Thr307=)
c.168C>A (p.Thr56=)
c.480C>A (p.Thr160=)
n.2847C>A
17g.3659926C=CA2243978570CTNSc.921C= (p.Thr307=)
c.168C= (p.Thr56=)
c.480C= (p.Thr160=)
n.2847C=
17g.3659926C>GCA497466654CTNSc.921C>G (p.Thr307=)
c.168C>G (p.Thr56=)
c.480C>G (p.Thr160=)
n.2847C>G
17g.3659926C>TCA8291954CTNSc.921C>T (p.Thr307=)
c.168C>T (p.Thr56=)
c.480C>T (p.Thr160=)
n.2847C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659927_3659932dupCA2635424322CTNSc.922_927dup (p.Gly309_Ser310insGlyGly)
c.169_174dup (p.Gly58_Ser59insGlyGly)
c.481_486dup (p.Gly162_Ser163insGlyGly)
n.2848_2853dup
 gnomAD v4
17g.3659927G>ACA8291955CTNSc.922G>A (p.Gly308Arg)
c.169G>A (p.Gly57Arg)
c.481G>A (p.Gly161Arg)
n.2848G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659927G>CCA397693194CTNSc.922G>C (p.Gly308Arg)
c.169G>C (p.Gly57Arg)
c.481G>C (p.Gly161Arg)
n.2848G>C
 ClinVar dbSNP
17g.3659927G=CA2243978577CTNSc.922G= (p.Gly308=)
c.169G= (p.Gly57=)
c.481G= (p.Gly161=)
n.2848G=
17g.3659927G>TCA397693198CTNSc.922G>T (p.Gly308Trp)
c.169G>T (p.Gly57Trp)
c.481G>T (p.Gly161Trp)
n.2848G>T
17g.3659931dupCA278465CTNSc.926dup (p.Ser310GlnfsTer?)
c.173dup (p.Ser59GlnfsTer?)
c.485dup (p.Ser163GlnfsTer?)
n.2852dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659928G>ACA397693200CTNSc.923G>A (p.Gly308Glu)
c.170G>A (p.Gly57Glu)
c.482G>A (p.Gly161Glu)
n.2849G>A
17g.3659928G>CCA397693202CTNSc.923G>C (p.Gly308Ala)
c.170G>C (p.Gly57Ala)
c.482G>C (p.Gly161Ala)
n.2849G>C
 dbSNP gnomAD v4
17g.3659928G=CA2243978580CTNSc.923G= (p.Gly308=)
c.170G= (p.Gly57=)
c.482G= (p.Gly161=)
n.2849G=
17g.3659928G>TCA287019887CTNSc.923G>T (p.Gly308Val)
c.170G>T (p.Gly57Val)
c.482G>T (p.Gly161Val)
n.2849G>T
 ClinVar dbSNP gnomAD v4
17g.3659929G>ACA497466661CTNSc.924G>A (p.Gly308=)
c.171G>A (p.Gly57=)
c.483G>A (p.Gly161=)
n.2850G>A
17g.3659929G>CCA497466662CTNSc.924G>C (p.Gly308=)
c.171G>C (p.Gly57=)
c.483G>C (p.Gly161=)
n.2850G>C
17g.3659929G>TCA497466664CTNSc.924G>T (p.Gly308=)
c.171G>T (p.Gly57=)
c.483G>T (p.Gly161=)
n.2850G>T
17g.3659930G>ACA8291956CTNSc.925G>A (p.Gly309Ser)
c.172G>A (p.Gly58Ser)
c.484G>A (p.Gly162Ser)
n.2851G>A
 dbSNP ExAC gnomAD v2
17g.3659930G>CCA397693206CTNSc.925G>C (p.Gly309Arg)
c.172G>C (p.Gly58Arg)
c.484G>C (p.Gly162Arg)
n.2851G>C
17g.3659930G=CA2243978583CTNSc.925G= (p.Gly309=)
c.172G= (p.Gly58=)
c.484G= (p.Gly162=)
n.2851G=
17g.3659930G>TCA397693208CTNSc.925G>T (p.Gly309Cys)
c.172G>T (p.Gly58Cys)
c.484G>T (p.Gly162Cys)
n.2851G>T
17g.3659931G>ACA397693210CTNSc.926G>A (p.Gly309Asp)
c.173G>A (p.Gly58Asp)
c.485G>A (p.Gly162Asp)
n.2852G>A
17g.3659931G>CCA397693212CTNSc.926G>C (p.Gly309Ala)
c.173G>C (p.Gly58Ala)
c.485G>C (p.Gly162Ala)
n.2852G>C
17g.3659931G=CA2243978585CTNSc.926G= (p.Gly309=)
c.173G= (p.Gly58=)
c.485G= (p.Gly162=)
n.2852G=
17g.3659931G>TCA8291957CTNSc.926G>T (p.Gly309Val)
c.173G>T (p.Gly58Val)
c.485G>T (p.Gly162Val)
n.2852G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659932C>ACA497466668CTNSc.927C>A (p.Gly309=)
c.174C>A (p.Gly58=)
c.486C>A (p.Gly162=)
n.2853C>A
17g.3659932C>GCA497466672CTNSc.927C>G (p.Gly309=)
c.174C>G (p.Gly58=)
c.486C>G (p.Gly162=)
n.2853C>G
17g.3659932C>TCA497466670CTNSc.927C>T (p.Gly309=)
c.174C>T (p.Gly58=)
c.486C>T (p.Gly162=)
n.2853C>T
17g.3659933A>CCA397693215CTNSc.928A>C (p.Ser310Arg)
c.175A>C (p.Ser59Arg)
c.487A>C (p.Ser163Arg)
n.2854A>C
 COSMIC COSMIC
17g.3659933A>GCA397693216CTNSc.928A>G (p.Ser310Gly)
c.175A>G (p.Ser59Gly)
c.487A>G (p.Ser163Gly)
n.2854A>G
17g.3659933A>TCA397693218CTNSc.928A>T (p.Ser310Cys)
c.175A>T (p.Ser59Cys)
c.487A>T (p.Ser163Cys)
n.2854A>T
17g.3659934G>ACA397693220CTNSc.929G>A (p.Ser310Asn)
c.176G>A (p.Ser59Asn)
c.488G>A (p.Ser163Asn)
n.2855G>A
17g.3659934G>CCA397693224CTNSc.929G>C (p.Ser310Thr)
c.176G>C (p.Ser59Thr)
c.488G>C (p.Ser163Thr)
n.2855G>C
17g.3659934G>TCA397693222CTNSc.929G>T (p.Ser310Ile)
c.176G>T (p.Ser59Ile)
c.488G>T (p.Ser163Ile)
n.2855G>T
17g.3659935C>ACA397693225CTNSc.930C>A (p.Ser310Arg)
c.177C>A (p.Ser59Arg)
c.489C>A (p.Ser163Arg)
n.2856C>A
17g.3659935C=CA2243978588CTNSc.930C= (p.Ser310=)
c.177C= (p.Ser59=)
c.489C= (p.Ser163=)
n.2856C=
17g.3659935C>GCA397693227CTNSc.930C>G (p.Ser310Arg)
c.177C>G (p.Ser59Arg)
c.489C>G (p.Ser163Arg)
n.2856C>G
17g.3659935C>TCA497466680CTNSc.930C>T (p.Ser310=)
c.177C>T (p.Ser59=)
c.489C>T (p.Ser163=)
n.2856C>T
 ClinVar dbSNP
17g.3659936T>ACA397693229CTNSc.931T>A (p.Phe311Ile)
c.178T>A (p.Phe60Ile)
c.490T>A (p.Phe164Ile)
n.2857T>A
17g.3659936T>CCA397693231CTNSc.931T>C (p.Phe311Leu)
c.178T>C (p.Phe60Leu)
c.490T>C (p.Phe164Leu)
n.2857T>C
17g.3659936T>GCA397693233CTNSc.931T>G (p.Phe311Val)
c.178T>G (p.Phe60Val)
c.490T>G (p.Phe164Val)
n.2857T>G
17g.3659937T>ACA397693234CTNSc.932T>A (p.Phe311Tyr)
c.179T>A (p.Phe60Tyr)
c.491T>A (p.Phe164Tyr)
n.2858T>A
17g.3659937T>CCA397693236CTNSc.932T>C (p.Phe311Ser)
c.179T>C (p.Phe60Ser)
c.491T>C (p.Phe164Ser)
n.2858T>C
17g.3659937T>GCA397693238CTNSc.932T>G (p.Phe311Cys)
c.179T>G (p.Phe60Cys)
c.491T>G (p.Phe164Cys)
n.2858T>G
17g.3659938C>ACA397693240CTNSc.933C>A (p.Phe311Leu)
c.180C>A (p.Phe60Leu)
c.492C>A (p.Phe164Leu)
n.2859C>A
17g.3659938C>GCA397693241CTNSc.933C>G (p.Phe311Leu)
c.180C>G (p.Phe60Leu)
c.492C>G (p.Phe164Leu)
n.2859C>G
17g.3659938C>TCA497466687CTNSc.933C>T (p.Phe311=)
c.180C>T (p.Phe60=)
c.492C>T (p.Phe164=)
n.2859C>T
17g.3659941_3659950delCA2580093570CTNSc.936_945del (p.Ser312ArgfsTer14)
c.183_192del (p.Ser61ArgfsTer14)
c.495_504del (p.Ser165ArgfsTer14)
n.2862_2871del
 ClinVar
17g.3659939A=CA2243978589CTNSc.934A= (p.Ser312=)
c.181A= (p.Ser61=)
c.493A= (p.Ser165=)
n.2860A=
17g.3659939A>CCA8291958CTNSc.934A>C (p.Ser312Arg)
c.181A>C (p.Ser61Arg)
c.493A>C (p.Ser165Arg)
n.2860A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659939A>GCA397693246CTNSc.934A>G (p.Ser312Gly)
c.181A>G (p.Ser61Gly)
c.493A>G (p.Ser165Gly)
n.2860A>G
17g.3659939A>TCA397693244CTNSc.934A>T (p.Ser312Cys)
c.181A>T (p.Ser61Cys)
c.493A>T (p.Ser165Cys)
n.2860A>T
17g.3659940G>ACA397693247CTNSc.935G>A (p.Ser312Asn)
c.182G>A (p.Ser61Asn)
c.494G>A (p.Ser165Asn)
n.2861G>A
17g.3659940G>CCA397693248CTNSc.935G>C (p.Ser312Thr)
c.182G>C (p.Ser61Thr)
c.494G>C (p.Ser165Thr)
n.2861G>C
17g.3659940G>TCA397693249CTNSc.935G>T (p.Ser312Ile)
c.182G>T (p.Ser61Ile)
c.494G>T (p.Ser165Ile)
n.2861G>T
17g.3659941C>ACA397693251CTNSc.936C>A (p.Ser312Arg)
c.183C>A (p.Ser61Arg)
c.495C>A (p.Ser165Arg)
n.2862C>A
17g.3659941C=CA2243978591CTNSc.936C= (p.Ser312=)
c.183C= (p.Ser61=)
c.495C= (p.Ser165=)
n.2862C=
17g.3659941C>GCA397693253CTNSc.936C>G (p.Ser312Arg)
c.183C>G (p.Ser61Arg)
c.495C>G (p.Ser165Arg)
n.2862C>G
17g.3659941C>TCA497466688CTNSc.936C>T (p.Ser312=)
c.183C>T (p.Ser61=)
c.495C>T (p.Ser165=)
n.2862C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659942C>ACA397693259CTNSc.937C>A (p.Leu313Ile)
c.184C>A (p.Leu62Ile)
c.496C>A (p.Leu166Ile)
n.2863C>A
17g.3659942C=CA2243978593CTNSc.937C= (p.Leu313=)
c.184C= (p.Leu62=)
c.496C= (p.Leu166=)
n.2863C=
17g.3659942C>GCA397693255CTNSc.937C>G (p.Leu313Val)
c.184C>G (p.Leu62Val)
c.496C>G (p.Leu166Val)
n.2863C>G
 dbSNP
17g.3659942C>TCA397693257CTNSc.937C>T (p.Leu313Phe)
c.184C>T (p.Leu62Phe)
c.496C>T (p.Leu166Phe)
n.2863C>T
 dbSNP gnomAD v4
17g.3659943T>ACA8291959CTNSc.938T>A (p.Leu313His)
c.185T>A (p.Leu62His)
c.497T>A (p.Leu166His)
n.2864T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659943T>CCA397693262CTNSc.938T>C (p.Leu313Pro)
c.185T>C (p.Leu62Pro)
c.497T>C (p.Leu166Pro)
n.2864T>C
17g.3659943T>GCA397693263CTNSc.938T>G (p.Leu313Arg)
c.185T>G (p.Leu62Arg)
c.497T>G (p.Leu166Arg)
n.2864T>G
17g.3659943T=CA2243978594CTNSc.938T= (p.Leu313=)
c.185T= (p.Leu62=)
c.497T= (p.Leu166=)
n.2864T=
17g.3659944C>ACA497466689CTNSc.939C>A (p.Leu313=)
c.186C>A (p.Leu62=)
c.498C>A (p.Leu166=)
n.2865C>A
17g.3659944C>GCA497466690CTNSc.939C>G (p.Leu313=)
c.186C>G (p.Leu62=)
c.498C>G (p.Leu166=)
n.2865C>G
17g.3659944C>TCA497466691CTNSc.939C>T (p.Leu313=)
c.186C>T (p.Leu62=)
c.498C>T (p.Leu166=)
n.2865C>T
17g.3659945C>ACA397693266CTNSc.940C>A (p.Leu314Met)
c.187C>A (p.Leu63Met)
c.499C>A (p.Leu167Met)
n.2866C>A
 COSMIC
17g.3659945C>GCA397693268CTNSc.940C>G (p.Leu314Val)
c.187C>G (p.Leu63Val)
c.499C>G (p.Leu167Val)
n.2866C>G
17g.3659945C>TCA497466693CTNSc.940C>T (p.Leu314=)
c.187C>T (p.Leu63=)
c.499C>T (p.Leu167=)
n.2866C>T
17g.3659946T>ACA397693270CTNSc.941T>A (p.Leu314Gln)
c.188T>A (p.Leu63Gln)
c.500T>A (p.Leu167Gln)
n.2867T>A
17g.3659946T>CCA8291960CTNSc.941T>C (p.Leu314Pro)
c.188T>C (p.Leu63Pro)
c.500T>C (p.Leu167Pro)
n.2867T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659946T>GCA397693272CTNSc.941T>G (p.Leu314Arg)
c.188T>G (p.Leu63Arg)
c.500T>G (p.Leu167Arg)
n.2867T>G
17g.3659946T=CA2243978596CTNSc.941T= (p.Leu314=)
c.188T= (p.Leu63=)
c.500T= (p.Leu167=)
n.2867T=
17g.3659947G>ACA497466694CTNSc.942G>A (p.Leu314=)
c.189G>A (p.Leu63=)
c.501G>A (p.Leu167=)
n.2868G>A
 gnomAD v4
17g.3659947G>CCA497466695CTNSc.942G>C (p.Leu314=)
c.189G>C (p.Leu63=)
c.501G>C (p.Leu167=)
n.2868G>C
17g.3659947G=CA2243978599CTNSc.942G= (p.Leu314=)
c.189G= (p.Leu63=)
c.501G= (p.Leu167=)
n.2868G=
17g.3659947G>TCA497466696CTNSc.942G>T (p.Leu314=)
c.189G>T (p.Leu63=)
c.501G>T (p.Leu167=)
n.2868G>T
 dbSNP gnomAD v2
17g.3659948C>ACA397693275CTNSc.943C>A (p.Gln315Lys)
c.190C>A (p.Gln64Lys)
c.502C>A (p.Gln168Lys)
n.2869C>A
 gnomAD v4
17g.3659948C=CA2243978602CTNSc.943C= (p.Gln315=)
c.190C= (p.Gln64=)
c.502C= (p.Gln168=)
n.2869C=
17g.3659948C>GCA397693277CTNSc.943C>G (p.Gln315Glu)
c.190C>G (p.Gln64Glu)
c.502C>G (p.Gln168Glu)
n.2869C>G
17g.3659948C>TCA397693278CTNSc.943C>T (p.Gln315Ter)
c.190C>T (p.Gln64Ter)
c.502C>T (p.Gln168Ter)
n.2869C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.3659949A=CA2243978605CTNSc.944A= (p.Gln315=)
c.191A= (p.Gln64=)
c.503A= (p.Gln168=)
n.2870A=
17g.3659949A>CCA397693280CTNSc.944A>C (p.Gln315Pro)
c.191A>C (p.Gln64Pro)
c.503A>C (p.Gln168Pro)
n.2870A>C
17g.3659949A>GCA16620398CTNSc.944A>G (p.Gln315Arg)
c.191A>G (p.Gln64Arg)
c.503A>G (p.Gln168Arg)
n.2870A>G
 ClinVar dbSNP gnomAD v2
17g.3659949A>TCA397693283CTNSc.944A>T (p.Gln315Leu)
c.191A>T (p.Gln64Leu)
c.503A>T (p.Gln168Leu)
n.2870A>T
17g.3659950G>ACA497466697CTNSc.945G>A (p.Gln315=)
c.192G>A (p.Gln64=)
c.504G>A (p.Gln168=)
n.2871G>A
 COSMIC COSMIC
17g.3659950G>CCA397693285CTNSc.945G>C (p.Gln315His)
c.192G>C (p.Gln64His)
c.504G>C (p.Gln168His)
n.2871G>C
 gnomAD v4
17g.3659950G>TCA397693287CTNSc.945G>T (p.Gln315His)
c.192G>T (p.Gln64His)
c.504G>T (p.Gln168His)
n.2871G>T
17g.3659951A=CA2243978607CTNSc.946A= (p.Met316=)
c.193A= (p.Met65=)
c.505A= (p.Met169=)
17g.3659951A>CCA397693288CTNSc.946A>C (p.Met316Leu)
c.193A>C (p.Met65Leu)
c.505A>C (p.Met169Leu)
17g.3659951A>GCA397693289CTNSc.946A>G (p.Met316Val)
c.193A>G (p.Met65Val)
c.505A>G (p.Met169Val)
 dbSNP
17g.3659951A>TCA397693290CTNSc.946A>T (p.Met316Leu)
c.193A>T (p.Met65Leu)
c.505A>T (p.Met169Leu)
17g.3659952T>ACA8291961CTNSc.947T>A (p.Met316Lys)
c.194T>A (p.Met65Lys)
c.506T>A (p.Met169Lys)
 dbSNP ExAC gnomAD v2
17g.3659952T>CCA397693295CTNSc.947T>C (p.Met316Thr)
c.194T>C (p.Met65Thr)
c.506T>C (p.Met169Thr)
17g.3659952T>GCA397693293CTNSc.947T>G (p.Met316Arg)
c.194T>G (p.Met65Arg)
c.506T>G (p.Met169Arg)
17g.3659952T=CA2243978609CTNSc.947T= (p.Met316=)
c.194T= (p.Met65=)
c.506T= (p.Met169=)
17g.3659953G>ACA287019913CTNSc.948G>A (p.Met316Ile)
c.195G>A (p.Met65Ile)
c.507G>A (p.Met169Ile)
 ClinVar dbSNP
17g.3659953G>CCA397693299CTNSc.948G>C (p.Met316Ile)
c.195G>C (p.Met65Ile)
c.507G>C (p.Met169Ile)
17g.3659953G=CA2243978610CTNSc.948G= (p.Met316=)
c.195G= (p.Met65=)
c.507G= (p.Met169=)
17g.3659953G>TCA397693300CTNSc.948G>T (p.Met316Ile)
c.195G>T (p.Met65Ile)
c.507G>T (p.Met169Ile)
17g.3659954T>ACA397693301CTNSc.949T>A (p.Phe317Ile)
c.196T>A (p.Phe66Ile)
c.508T>A (p.Phe170Ile)
17g.3659954T>CCA287019917CTNSc.949T>C (p.Phe317Leu)
c.196T>C (p.Phe66Leu)
c.508T>C (p.Phe170Leu)
 dbSNP
17g.3659954T>GCA397693302CTNSc.949T>G (p.Phe317Val)
c.196T>G (p.Phe66Val)
c.508T>G (p.Phe170Val)
17g.3659954T=CA2243978612CTNSc.949T= (p.Phe317=)
c.196T= (p.Phe66=)
c.508T= (p.Phe170=)
17g.3659955T>ACA397693309CTNSc.950T>A (p.Phe317Tyr)
c.197T>A (p.Phe66Tyr)
c.509T>A (p.Phe170Tyr)
17g.3659955T>CCA397693307CTNSc.950T>C (p.Phe317Ser)
c.197T>C (p.Phe66Ser)
c.509T>C (p.Phe170Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.3659955T>GCA397693305CTNSc.950T>G (p.Phe317Cys)
c.197T>G (p.Phe66Cys)
c.509T>G (p.Phe170Cys)
17g.3659955T=CA2243978614CTNSc.950T= (p.Phe317=)
c.197T= (p.Phe66=)
c.509T= (p.Phe170=)
17g.3659956C>ACA397693311CTNSc.951C>A (p.Phe317Leu)
c.198C>A (p.Phe66Leu)
c.510C>A (p.Phe170Leu)
17g.3659956C=CA2243978616CTNSc.951C= (p.Phe317=)
c.198C= (p.Phe66=)
c.510C= (p.Phe170=)
17g.3659956C>GCA397693313CTNSc.951C>G (p.Phe317Leu)
c.198C>G (p.Phe66Leu)
c.510C>G (p.Phe170Leu)
17g.3659956C>TCA8291962CTNSc.951C>T (p.Phe317=)
c.198C>T (p.Phe66=)
c.510C>T (p.Phe170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659957C>ACA397693316CTNSc.952C>A (p.Leu318Ile)
c.199C>A (p.Leu67Ile)
c.511C>A (p.Leu171Ile)
17g.3659957C=CA2243978619CTNSc.952C= (p.Leu318=)
c.199C= (p.Leu67=)
c.511C= (p.Leu171=)
17g.3659957C>GCA397693318CTNSc.952C>G (p.Leu318Val)
c.199C>G (p.Leu67Val)
c.511C>G (p.Leu171Val)
17g.3659957C>TCA8291963CTNSc.952C>T (p.Leu318Phe)
c.199C>T (p.Leu67Phe)
c.511C>T (p.Leu171Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659958_3659959delCA2576123922CTNSc.953_954del (p.Leu318ProfsTer?)
c.200_201del (p.Leu67ProfsTer?)
c.512_513del (p.Leu171ProfsTer?)
17g.3659958T>ACA397693320CTNSc.953T>A (p.Leu318His)
c.200T>A (p.Leu67His)
c.512T>A (p.Leu171His)
17g.3659958T>CCA397693324CTNSc.953T>C (p.Leu318Pro)
c.200T>C (p.Leu67Pro)
c.512T>C (p.Leu171Pro)
17g.3659958T>GCA397693323CTNSc.953T>G (p.Leu318Arg)
c.200T>G (p.Leu67Arg)
c.512T>G (p.Leu171Arg)

Number of alleles fetched