Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2169773C>A | CA379112357 | TH | c.189G>T (p.Glu63Asp) c.91-78G>T (n.91-78G>T) c.103-78G>T (n.103-78G>T) c.270G>T (p.Glu90Asp) c.282G>T (p.Glu94Asp) c.201G>T (p.Glu67Asp) | |
11 | g.2169773C>G | CA379112358 | TH | c.189G>C (p.Glu63Asp) c.91-78G>C (n.91-78G>C) c.103-78G>C (n.103-78G>C) c.270G>C (p.Glu90Asp) c.282G>C (p.Glu94Asp) c.201G>C (p.Glu67Asp) | |
11 | g.2169773C>T | CA472018848 | TH | c.189G>A (p.Glu63=) c.91-78G>A (n.91-78G>A) c.103-78G>A (n.103-78G>A) c.270G>A (p.Glu90=) c.282G>A (p.Glu94=) c.201G>A (p.Glu67=) | |
11 | g.2169774T>A | CA379112359 | TH | c.188A>T (p.Glu63Val) c.91-79A>T (n.91-79A>T) c.103-79A>T (n.103-79A>T) c.269A>T (p.Glu90Val) c.281A>T (p.Glu94Val) c.200A>T (p.Glu67Val) | |
11 | g.2169774T>C | CA379112360 | TH | c.188A>G (p.Glu63Gly) c.91-79A>G (n.91-79A>G) c.103-79A>G (n.103-79A>G) c.269A>G (p.Glu90Gly) c.281A>G (p.Glu94Gly) c.200A>G (p.Glu67Gly) | |
11 | g.2169774T>G | CA379112361 | TH | c.188A>C (p.Glu63Ala) c.91-79A>C (n.91-79A>C) c.103-79A>C (n.103-79A>C) c.269A>C (p.Glu90Ala) c.281A>C (p.Glu94Ala) c.200A>C (p.Glu67Ala) | |
11 | g.2169775C>A | CA379112362 | TH | c.187G>T (p.Glu63Ter) c.91-80G>T (n.91-80G>T) c.103-80G>T (n.103-80G>T) c.268G>T (p.Glu90Ter) c.280G>T (p.Glu94Ter) c.199G>T (p.Glu67Ter) | |
11 | g.2169775C>G | CA379112364 | TH | c.187G>C (p.Glu63Gln) c.91-80G>C (n.91-80G>C) c.103-80G>C (n.103-80G>C) c.268G>C (p.Glu90Gln) c.280G>C (p.Glu94Gln) c.199G>C (p.Glu67Gln) | |
11 | g.2169775C>T | CA379112363 | TH | c.187G>A (p.Glu63Lys) c.91-80G>A (n.91-80G>A) c.103-80G>A (n.103-80G>A) c.268G>A (p.Glu90Lys) c.280G>A (p.Glu94Lys) c.199G>A (p.Glu67Lys) | |
11 | g.2169776C>A | CA472018849 | TH | c.186G>T (p.Ser62=) c.91-81G>T (n.91-81G>T) c.103-81G>T (n.103-81G>T) c.267G>T (p.Ser89=) c.279G>T (p.Ser93=) c.198G>T (p.Ser66=) | |
11 | g.2169776C= | CA1948009676 | TH | c.186G= (p.Ser62=) c.91-81G= (n.91-81G=) c.103-81G= (n.103-81G=) c.267G= (p.Ser89=) c.279G= (p.Ser93=) c.198G= (p.Ser66=) | |
11 | g.2169776C>G | CA472018850 | TH | c.186G>C (p.Ser62=) c.91-81G>C (n.91-81G>C) c.103-81G>C (n.103-81G>C) c.267G>C (p.Ser89=) c.279G>C (p.Ser93=) c.198G>C (p.Ser66=) | |
11 | g.2169776C>T | CA5818771 | TH | c.186G>A (p.Ser62=) c.91-81G>A (n.91-81G>A) c.103-81G>A (n.103-81G>A) c.267G>A (p.Ser89=) c.279G>A (p.Ser93=) c.198G>A (p.Ser66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169777G>A | CA5818772 | TH | c.185C>T (p.Ser62Leu) c.91-82C>T (n.91-82C>T) c.103-82C>T (n.103-82C>T) c.266C>T (p.Ser89Leu) c.278C>T (p.Ser93Leu) c.197C>T (p.Ser66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169777G>C | CA5818773 | TH | c.185C>G (p.Ser62Trp) c.91-82C>G (n.91-82C>G) c.103-82C>G (n.103-82C>G) c.266C>G (p.Ser89Trp) c.278C>G (p.Ser93Trp) c.197C>G (p.Ser66Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2169777G= | CA1948009679 | TH | c.185C= (p.Ser62=) c.91-82C= (n.91-82C=) c.103-82C= (n.103-82C=) c.266C= (p.Ser89=) c.278C= (p.Ser93=) c.197C= (p.Ser66=) | |
11 | g.2169777G>T | CA379112365 | TH | c.185C>A (p.Ser62Ter) c.91-82C>A (n.91-82C>A) c.103-82C>A (n.103-82C>A) c.266C>A (p.Ser89Ter) c.278C>A (p.Ser93Ter) c.197C>A (p.Ser66Ter) | |
11 | g.2169778A>C | CA379112366 | TH | c.184T>G (p.Ser62Ala) c.91-83T>G (n.91-83T>G) c.103-83T>G (n.103-83T>G) c.265T>G (p.Ser89Ala) c.277T>G (p.Ser93Ala) c.196T>G (p.Ser66Ala) | |
11 | g.2169778A>G | CA379112368 | TH | c.184T>C (p.Ser62Pro) c.91-83T>C (n.91-83T>C) c.103-83T>C (n.103-83T>C) c.265T>C (p.Ser89Pro) c.277T>C (p.Ser93Pro) c.196T>C (p.Ser66Pro) | |
11 | g.2169778A>T | CA379112367 | TH | c.184T>A (p.Ser62Thr) c.91-83T>A (n.91-83T>A) c.103-83T>A (n.103-83T>A) c.265T>A (p.Ser89Thr) c.277T>A (p.Ser93Thr) c.196T>A (p.Ser66Thr) | |
11 | g.2169779G>A | CA216227719 | TH | c.183C>T (p.Pro61=) c.91-84C>T (n.91-84C>T) c.103-84C>T (n.103-84C>T) c.264C>T (p.Pro88=) c.276C>T (p.Pro92=) c.195C>T (p.Pro65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169779G>C | CA472018851 | TH | c.183C>G (p.Pro61=) c.91-84C>G (n.91-84C>G) c.103-84C>G (n.103-84C>G) c.264C>G (p.Pro88=) c.276C>G (p.Pro92=) c.195C>G (p.Pro65=) | |
11 | g.2169779G= | CA1948009682 | TH | c.183C= (p.Pro61=) c.91-84C= (n.91-84C=) c.103-84C= (n.103-84C=) c.264C= (p.Pro88=) c.276C= (p.Pro92=) c.195C= (p.Pro65=) | |
11 | g.2169779G>T | CA472018852 | TH | c.183C>A (p.Pro61=) c.91-84C>A (n.91-84C>A) c.103-84C>A (n.103-84C>A) c.264C>A (p.Pro88=) c.276C>A (p.Pro92=) c.195C>A (p.Pro65=) | |
11 | g.2169780G>A | CA5818774 | TH | c.182C>T (p.Pro61Leu) c.91-85C>T (n.91-85C>T) c.103-85C>T (n.103-85C>T) c.263C>T (p.Pro88Leu) c.275C>T (p.Pro92Leu) c.194C>T (p.Pro65Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2169780G>C | CA379112369 | TH | c.182C>G (p.Pro61Arg) c.91-85C>G (n.91-85C>G) c.103-85C>G (n.103-85C>G) c.263C>G (p.Pro88Arg) c.275C>G (p.Pro92Arg) c.194C>G (p.Pro65Arg) | |
11 | g.2169780G= | CA1948009685 | TH | c.182C= (p.Pro61=) c.91-85C= (n.91-85C=) c.103-85C= (n.103-85C=) c.263C= (p.Pro88=) c.275C= (p.Pro92=) c.194C= (p.Pro65=) | |
11 | g.2169780G>T | CA5818775 | TH | c.182C>A (p.Pro61His) c.91-85C>A (n.91-85C>A) c.103-85C>A (n.103-85C>A) c.263C>A (p.Pro88His) c.275C>A (p.Pro92His) c.194C>A (p.Pro65His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2169781G>A | CA379112370 | TH | c.181C>T (p.Pro61Ser) c.91-86C>T (n.91-86C>T) c.103-86C>T (n.103-86C>T) c.262C>T (p.Pro88Ser) c.274C>T (p.Pro92Ser) c.193C>T (p.Pro65Ser) | COSMIC |
11 | g.2169781G>C | CA379112371 | TH | c.181C>G (p.Pro61Ala) c.91-86C>G (n.91-86C>G) c.103-86C>G (n.103-86C>G) c.262C>G (p.Pro88Ala) c.274C>G (p.Pro92Ala) c.193C>G (p.Pro65Ala) | |
11 | g.2169781G>T | CA379112372 | TH | c.181C>A (p.Pro61Thr) c.91-86C>A (n.91-86C>A) c.103-86C>A (n.103-86C>A) c.262C>A (p.Pro88Thr) c.274C>A (p.Pro92Thr) c.193C>A (p.Pro65Thr) | |
11 | g.2169782G>A | CA472018855 | TH | c.180C>T (p.Val60=) c.91-87C>T (n.91-87C>T) c.103-87C>T (n.103-87C>T) c.261C>T (p.Val87=) c.273C>T (p.Val91=) c.192C>T (p.Val64=) | |
11 | g.2169782G>C | CA472018853 | TH | c.180C>G (p.Val60=) c.91-87C>G (n.91-87C>G) c.103-87C>G (n.103-87C>G) c.261C>G (p.Val87=) c.273C>G (p.Val91=) c.192C>G (p.Val64=) | |
11 | g.2169782G>T | CA472018854 | TH | c.180C>A (p.Val60=) c.91-87C>A (n.91-87C>A) c.103-87C>A (n.103-87C>A) c.261C>A (p.Val87=) c.273C>A (p.Val91=) c.192C>A (p.Val64=) | gnomAD v4 |
11 | g.2169783A>C | CA379112373 | TH | c.179T>G (p.Val60Gly) c.91-88T>G (n.91-88T>G) c.103-88T>G (n.103-88T>G) c.260T>G (p.Val87Gly) c.272T>G (p.Val91Gly) c.191T>G (p.Val64Gly) | |
11 | g.2169783A>G | CA379112374 | TH | c.179T>C (p.Val60Ala) c.91-88T>C (n.91-88T>C) c.103-88T>C (n.103-88T>C) c.260T>C (p.Val87Ala) c.272T>C (p.Val91Ala) c.191T>C (p.Val64Ala) | |
11 | g.2169783A>T | CA379112375 | TH | c.179T>A (p.Val60Asp) c.91-88T>A (n.91-88T>A) c.103-88T>A (n.103-88T>A) c.260T>A (p.Val87Asp) c.272T>A (p.Val91Asp) c.191T>A (p.Val64Asp) | |
11 | g.2169784C>A | CA379112376 | TH | c.178G>T (p.Val60Phe) c.91-89G>T (n.91-89G>T) c.103-89G>T (n.103-89G>T) c.259G>T (p.Val87Phe) c.271G>T (p.Val91Phe) c.190G>T (p.Val64Phe) | |
11 | g.2169784C>G | CA379112377 | TH | c.178G>C (p.Val60Leu) c.91-89G>C (n.91-89G>C) c.103-89G>C (n.103-89G>C) c.259G>C (p.Val87Leu) c.271G>C (p.Val91Leu) c.190G>C (p.Val64Leu) | |
11 | g.2169784C>T | CA379112378 | TH | c.178G>A (p.Val60Ile) c.91-89G>A (n.91-89G>A) c.103-89G>A (n.103-89G>A) c.259G>A (p.Val87Ile) c.271G>A (p.Val91Ile) c.190G>A (p.Val64Ile) | |
11 | g.2169785T>A | CA472018856 | TH | c.177A>T (p.Ala59=) c.91-90A>T (n.91-90A>T) c.103-90A>T (n.103-90A>T) c.258A>T (p.Ala86=) c.270A>T (p.Ala90=) c.189A>T (p.Ala63=) | ClinVar |
11 | g.2169785T>C | CA472018857 | TH | c.177A>G (p.Ala59=) c.91-90A>G (n.91-90A>G) c.103-90A>G (n.103-90A>G) c.258A>G (p.Ala86=) c.270A>G (p.Ala90=) c.189A>G (p.Ala63=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169785T>G | CA472018858 | TH | c.177A>C (p.Ala59=) c.91-90A>C (n.91-90A>C) c.103-90A>C (n.103-90A>C) c.258A>C (p.Ala86=) c.270A>C (p.Ala90=) c.189A>C (p.Ala63=) | |
11 | g.2169785T= | CA1948009687 | TH | c.177A= (p.Ala59=) c.91-90A= (n.91-90A=) c.103-90A= (n.103-90A=) c.258A= (p.Ala86=) c.270A= (p.Ala90=) c.189A= (p.Ala63=) | |
11 | g.2169786G>A | CA379112381 | TH | c.176C>T (p.Ala59Val) c.91-91C>T (n.91-91C>T) c.103-91C>T (n.103-91C>T) c.257C>T (p.Ala86Val) c.269C>T (p.Ala90Val) c.188C>T (p.Ala63Val) | |
11 | g.2169786G>C | CA379112379 | TH | c.176C>G (p.Ala59Gly) c.91-91C>G (n.91-91C>G) c.103-91C>G (n.103-91C>G) c.257C>G (p.Ala86Gly) c.269C>G (p.Ala90Gly) c.188C>G (p.Ala63Gly) | |
11 | g.2169786G>T | CA379112380 | TH | c.176C>A (p.Ala59Glu) c.91-91C>A (n.91-91C>A) c.103-91C>A (n.103-91C>A) c.257C>A (p.Ala86Glu) c.269C>A (p.Ala90Glu) c.188C>A (p.Ala63Glu) | |
11 | g.2169787C>A | CA379112382 | TH | c.175G>T (p.Ala59Ser) c.91-92G>T (n.91-92G>T) c.103-92G>T (n.103-92G>T) c.256G>T (p.Ala86Ser) c.268G>T (p.Ala90Ser) c.187G>T (p.Ala63Ser) | |
11 | g.2169787C>G | CA379112383 | TH | c.175G>C (p.Ala59Pro) c.91-92G>C (n.91-92G>C) c.103-92G>C (n.103-92G>C) c.256G>C (p.Ala86Pro) c.268G>C (p.Ala90Pro) c.187G>C (p.Ala63Pro) | |
11 | g.2169787C>T | CA379112384 | TH | c.175G>A (p.Ala59Thr) c.91-92G>A (n.91-92G>A) c.103-92G>A (n.103-92G>A) c.256G>A (p.Ala86Thr) c.268G>A (p.Ala90Thr) c.187G>A (p.Ala63Thr) | |
11 | g.2169788A>C | CA472018859 | TH | c.174T>G (p.Ala58=) c.91-93T>G (n.91-93T>G) c.103-93T>G (n.103-93T>G) c.255T>G (p.Ala85=) c.267T>G (p.Ala89=) c.186T>G (p.Ala62=) | |
11 | g.2169788A>G | CA472018860 | TH | c.174T>C (p.Ala58=) c.91-93T>C (n.91-93T>C) c.103-93T>C (n.103-93T>C) c.255T>C (p.Ala85=) c.267T>C (p.Ala89=) c.186T>C (p.Ala62=) | |
11 | g.2169788A>T | CA472018861 | TH | c.174T>A (p.Ala58=) c.91-93T>A (n.91-93T>A) c.103-93T>A (n.103-93T>A) c.255T>A (p.Ala85=) c.267T>A (p.Ala89=) c.186T>A (p.Ala62=) | ClinVar dbSNP gnomAD v4 |
11 | g.2169789G>A | CA5818776 | TH | c.173C>T (p.Ala58Val) c.91-94C>T (n.91-94C>T) c.103-94C>T (n.103-94C>T) c.254C>T (p.Ala85Val) c.266C>T (p.Ala89Val) c.185C>T (p.Ala62Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169789G>C | CA379112385 | TH | c.173C>G (p.Ala58Gly) c.91-94C>G (n.91-94C>G) c.103-94C>G (n.103-94C>G) c.254C>G (p.Ala85Gly) c.266C>G (p.Ala89Gly) c.185C>G (p.Ala62Gly) | |
11 | g.2169789G= | CA1948009689 | TH | c.173C= (p.Ala58=) c.91-94C= (n.91-94C=) c.103-94C= (n.103-94C=) c.254C= (p.Ala85=) c.266C= (p.Ala89=) c.185C= (p.Ala62=) | |
11 | g.2169789G>T | CA379112386 | TH | c.173C>A (p.Ala58Asp) c.91-94C>A (n.91-94C>A) c.103-94C>A (n.103-94C>A) c.254C>A (p.Ala85Asp) c.266C>A (p.Ala89Asp) c.185C>A (p.Ala62Asp) | |
11 | g.2169790C>A | CA216227754 | TH | c.172G>T (p.Ala58Ser) c.91-95G>T (n.91-95G>T) c.103-95G>T (n.103-95G>T) c.253G>T (p.Ala85Ser) c.265G>T (p.Ala89Ser) c.184G>T (p.Ala62Ser) | dbSNP |
11 | g.2169790C= | CA1948009692 | TH | c.172G= (p.Ala58=) c.91-95G= (n.91-95G=) c.103-95G= (n.103-95G=) c.253G= (p.Ala85=) c.265G= (p.Ala89=) c.184G= (p.Ala62=) | |
11 | g.2169790C>G | CA379112387 | TH | c.172G>C (p.Ala58Pro) c.91-95G>C (n.91-95G>C) c.103-95G>C (n.103-95G>C) c.253G>C (p.Ala85Pro) c.265G>C (p.Ala89Pro) c.184G>C (p.Ala62Pro) | |
11 | g.2169790C>T | CA379112388 | TH | c.172G>A (p.Ala58Thr) c.91-95G>A (n.91-95G>A) c.103-95G>A (n.103-95G>A) c.253G>A (p.Ala85Thr) c.265G>A (p.Ala89Thr) c.184G>A (p.Ala62Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2169791G>A | CA5818777 | TH | c.171C>T (p.Ala57=) c.91-96C>T (n.91-96C>T) c.103-96C>T (n.103-96C>T) c.252C>T (p.Ala84=) c.264C>T (p.Ala88=) c.183C>T (p.Ala61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169791G>C | CA472018863 | TH | c.171C>G (p.Ala57=) c.91-96C>G (n.91-96C>G) c.103-96C>G (n.103-96C>G) c.252C>G (p.Ala84=) c.264C>G (p.Ala88=) c.183C>G (p.Ala61=) | |
11 | g.2169791G= | CA1948009695 | TH | c.171C= (p.Ala57=) c.91-96C= (n.91-96C=) c.103-96C= (n.103-96C=) c.252C= (p.Ala84=) c.264C= (p.Ala88=) c.183C= (p.Ala61=) | |
11 | g.2169791G>T | CA472018862 | TH | c.171C>A (p.Ala57=) c.91-96C>A (n.91-96C>A) c.103-96C>A (n.103-96C>A) c.252C>A (p.Ala84=) c.264C>A (p.Ala88=) c.183C>A (p.Ala61=) | gnomAD v4 |
11 | g.2169792G>A | CA379112389 | TH | c.170C>T (p.Ala57Val) c.91-97C>T (n.91-97C>T) c.103-97C>T (n.103-97C>T) c.251C>T (p.Ala84Val) c.263C>T (p.Ala88Val) c.182C>T (p.Ala61Val) | dbSNP |
11 | g.2169792G>C | CA379112390 | TH | c.170C>G (p.Ala57Gly) c.91-97C>G (n.91-97C>G) c.103-97C>G (n.103-97C>G) c.251C>G (p.Ala84Gly) c.263C>G (p.Ala88Gly) c.182C>G (p.Ala61Gly) | gnomAD v4 |
11 | g.2169792G= | CA1948009699 | TH | c.170C= (p.Ala57=) c.91-97C= (n.91-97C=) c.103-97C= (n.103-97C=) c.251C= (p.Ala84=) c.263C= (p.Ala88=) c.182C= (p.Ala61=) | |
11 | g.2169792G>T | CA379112391 | TH | c.170C>A (p.Ala57Asp) c.91-97C>A (n.91-97C>A) c.103-97C>A (n.103-97C>A) c.251C>A (p.Ala84Asp) c.263C>A (p.Ala88Asp) c.182C>A (p.Ala61Asp) | |
11 | g.2169792_2169803dup | CA597431706 | TH | c.159_170dup (p.Ala57_Ala58insAlaAlaAlaAla) c.91-108_91-97dup (n.91-108_91-97dup) c.103-108_103-97dup (n.103-108_103-97dup) c.240_251dup (p.Ala84_Ala85insAlaAlaAlaAla) c.252_263dup (p.Ala88_Ala89insAlaAlaAlaAla) c.171_182dup (p.Ala61_Ala62insAlaAlaAlaAla) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169793C>A | CA379112394 | TH | c.169G>T (p.Ala57Ser) c.91-98G>T (n.91-98G>T) c.103-98G>T (n.103-98G>T) c.250G>T (p.Ala84Ser) c.262G>T (p.Ala88Ser) c.181G>T (p.Ala61Ser) | |
11 | g.2169793C= | CA1948009702 | TH | c.169G= (p.Ala57=) c.91-98G= (n.91-98G=) c.103-98G= (n.103-98G=) c.250G= (p.Ala84=) c.262G= (p.Ala88=) c.181G= (p.Ala61=) | |
11 | g.2169793C>G | CA379112393 | TH | c.169G>C (p.Ala57Pro) c.91-98G>C (n.91-98G>C) c.103-98G>C (n.103-98G>C) c.250G>C (p.Ala84Pro) c.262G>C (p.Ala88Pro) c.181G>C (p.Ala61Pro) | |
11 | g.2169793C>T | CA379112392 | TH | c.169G>A (p.Ala57Thr) c.91-98G>A (n.91-98G>A) c.103-98G>A (n.103-98G>A) c.250G>A (p.Ala84Thr) c.262G>A (p.Ala88Thr) c.181G>A (p.Ala61Thr) | dbSNP |
11 | g.2169794C>A | CA472018865 | TH | c.168G>T (p.Ala56=) c.91-99G>T (n.91-99G>T) c.103-99G>T (n.103-99G>T) c.249G>T (p.Ala83=) c.261G>T (p.Ala87=) c.180G>T (p.Ala60=) | |
11 | g.2169794C= | CA1948009705 | TH | c.168G= (p.Ala56=) c.91-99G= (n.91-99G=) c.103-99G= (n.103-99G=) c.249G= (p.Ala83=) c.261G= (p.Ala87=) c.180G= (p.Ala60=) | |
11 | g.2169794C>G | CA472018864 | TH | c.168G>C (p.Ala56=) c.91-99G>C (n.91-99G>C) c.103-99G>C (n.103-99G>C) c.249G>C (p.Ala83=) c.261G>C (p.Ala87=) c.180G>C (p.Ala60=) | |
11 | g.2169794C>T | CA5818778 | TH | c.168G>A (p.Ala56=) c.91-99G>A (n.91-99G>A) c.103-99G>A (n.103-99G>A) c.249G>A (p.Ala83=) c.261G>A (p.Ala87=) c.180G>A (p.Ala60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2169795G>A | CA5818779 | TH | c.167C>T (p.Ala56Val) c.91-100C>T (n.91-100C>T) c.103-100C>T (n.103-100C>T) c.248C>T (p.Ala83Val) c.260C>T (p.Ala87Val) c.179C>T (p.Ala60Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169795G>C | CA379112396 | TH | c.167C>G (p.Ala56Gly) c.91-100C>G (n.91-100C>G) c.103-100C>G (n.103-100C>G) c.248C>G (p.Ala83Gly) c.260C>G (p.Ala87Gly) c.179C>G (p.Ala60Gly) | gnomAD v4 |
11 | g.2169795G= | CA1948009708 | TH | c.167C= (p.Ala56=) c.91-100C= (n.91-100C=) c.103-100C= (n.103-100C=) c.248C= (p.Ala83=) c.260C= (p.Ala87=) c.179C= (p.Ala60=) | |
11 | g.2169795G>T | CA379112397 | TH | c.167C>A (p.Ala56Glu) c.91-100C>A (n.91-100C>A) c.103-100C>A (n.103-100C>A) c.248C>A (p.Ala83Glu) c.260C>A (p.Ala87Glu) c.179C>A (p.Ala60Glu) | |
11 | g.2169796C>A | CA379112398 | TH | c.166G>T (p.Ala56Ser) c.91-101G>T (n.91-101G>T) c.103-101G>T (n.103-101G>T) c.247G>T (p.Ala83Ser) c.259G>T (p.Ala87Ser) c.178G>T (p.Ala60Ser) | |
11 | g.2169796C>G | CA379112399 | TH | c.166G>C (p.Ala56Pro) c.91-101G>C (n.91-101G>C) c.103-101G>C (n.103-101G>C) c.247G>C (p.Ala83Pro) c.259G>C (p.Ala87Pro) c.178G>C (p.Ala60Pro) | |
11 | g.2169796C>T | CA379112400 | TH | c.166G>A (p.Ala56Thr) c.91-101G>A (n.91-101G>A) c.103-101G>A (n.103-101G>A) c.247G>A (p.Ala83Thr) c.259G>A (p.Ala87Thr) c.178G>A (p.Ala60Thr) | |
11 | g.2169797T>A | CA472018866 | TH | c.165A>T (p.Ala55=) c.91-102A>T (n.91-102A>T) c.103-102A>T (n.103-102A>T) c.246A>T (p.Ala82=) c.258A>T (p.Ala86=) c.177A>T (p.Ala59=) | |
11 | g.2169797T>C | CA472018867 | TH | c.165A>G (p.Ala55=) c.91-102A>G (n.91-102A>G) c.103-102A>G (n.103-102A>G) c.246A>G (p.Ala82=) c.258A>G (p.Ala86=) c.177A>G (p.Ala59=) | ClinVar dbSNP |
11 | g.2169797T>G | CA472018868 | TH | c.165A>C (p.Ala55=) c.91-102A>C (n.91-102A>C) c.103-102A>C (n.103-102A>C) c.246A>C (p.Ala82=) c.258A>C (p.Ala86=) c.177A>C (p.Ala59=) | |
11 | g.2169798G>A | CA379112401 | TH | c.164C>T (p.Ala55Val) c.91-103C>T (n.91-103C>T) c.103-103C>T (n.103-103C>T) c.245C>T (p.Ala82Val) c.257C>T (p.Ala86Val) c.176C>T (p.Ala59Val) | |
11 | g.2169798G>C | CA379112402 | TH | c.164C>G (p.Ala55Gly) c.91-103C>G (n.91-103C>G) c.103-103C>G (n.103-103C>G) c.245C>G (p.Ala82Gly) c.257C>G (p.Ala86Gly) c.176C>G (p.Ala59Gly) | |
11 | g.2169798G>T | CA379112403 | TH | c.164C>A (p.Ala55Glu) c.91-103C>A (n.91-103C>A) c.103-103C>A (n.103-103C>A) c.245C>A (p.Ala82Glu) c.257C>A (p.Ala86Glu) c.176C>A (p.Ala59Glu) | |
11 | g.2169799C>A | CA379112404 | TH | c.163G>T (p.Ala55Ser) c.91-104G>T (n.91-104G>T) c.103-104G>T (n.103-104G>T) c.244G>T (p.Ala82Ser) c.256G>T (p.Ala86Ser) c.175G>T (p.Ala59Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169799C= | CA1948009711 | TH | c.163G= (p.Ala55=) c.91-104G= (n.91-104G=) c.103-104G= (n.103-104G=) c.244G= (p.Ala82=) c.256G= (p.Ala86=) c.175G= (p.Ala59=) | |
11 | g.2169799C>G | CA379112405 | TH | c.163G>C (p.Ala55Pro) c.91-104G>C (n.91-104G>C) c.103-104G>C (n.103-104G>C) c.244G>C (p.Ala82Pro) c.256G>C (p.Ala86Pro) c.175G>C (p.Ala59Pro) | |
11 | g.2169799C>T | CA379112406 | TH | c.163G>A (p.Ala55Thr) c.91-104G>A (n.91-104G>A) c.103-104G>A (n.103-104G>A) c.244G>A (p.Ala82Thr) c.256G>A (p.Ala86Thr) c.175G>A (p.Ala59Thr) | gnomAD v4 |
11 | g.2169800T>A | CA472018869 | TH | c.162A>T (p.Ala54=) c.91-105A>T (n.91-105A>T) c.103-105A>T (n.103-105A>T) c.243A>T (p.Ala81=) c.255A>T (p.Ala85=) c.174A>T (p.Ala58=) | |
11 | g.2169800T>C | CA472018870 | TH | c.162A>G (p.Ala54=) c.91-105A>G (n.91-105A>G) c.103-105A>G (n.103-105A>G) c.243A>G (p.Ala81=) c.255A>G (p.Ala85=) c.174A>G (p.Ala58=) | |
11 | g.2169800T>G | CA472018871 | TH | c.162A>C (p.Ala54=) c.91-105A>C (n.91-105A>C) c.103-105A>C (n.103-105A>C) c.243A>C (p.Ala81=) c.255A>C (p.Ala85=) c.174A>C (p.Ala58=) | |
11 | g.2169801G>A | CA379112408 | TH | c.161C>T (p.Ala54Val) c.91-106C>T (n.91-106C>T) c.103-106C>T (n.103-106C>T) c.242C>T (p.Ala81Val) c.254C>T (p.Ala85Val) c.173C>T (p.Ala58Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169801G>C | CA379112409 | TH | c.161C>G (p.Ala54Gly) c.91-106C>G (n.91-106C>G) c.103-106C>G (n.103-106C>G) c.242C>G (p.Ala81Gly) c.254C>G (p.Ala85Gly) c.173C>G (p.Ala58Gly) | |
11 | g.2169801G= | CA1948009713 | TH | c.161C= (p.Ala54=) c.91-106C= (n.91-106C=) c.103-106C= (n.103-106C=) c.242C= (p.Ala81=) c.254C= (p.Ala85=) c.173C= (p.Ala58=) | |
11 | g.2169801G>T | CA379112407 | TH | c.161C>A (p.Ala54Glu) c.91-106C>A (n.91-106C>A) c.103-106C>A (n.103-106C>A) c.242C>A (p.Ala81Glu) c.254C>A (p.Ala85Glu) c.173C>A (p.Ala58Glu) | |
11 | g.2169802C>A | CA379112410 | TH | c.160G>T (p.Ala54Ser) c.91-107G>T (n.91-107G>T) c.103-107G>T (n.103-107G>T) c.241G>T (p.Ala81Ser) c.253G>T (p.Ala85Ser) c.172G>T (p.Ala58Ser) | |
11 | g.2169802C= | CA1948009715 | TH | c.160G= (p.Ala54=) c.91-107G= (n.91-107G=) c.103-107G= (n.103-107G=) c.241G= (p.Ala81=) c.253G= (p.Ala85=) c.172G= (p.Ala58=) | |
11 | g.2169802C>G | CA379112412 | TH | c.160G>C (p.Ala54Pro) c.91-107G>C (n.91-107G>C) c.103-107G>C (n.103-107G>C) c.241G>C (p.Ala81Pro) c.253G>C (p.Ala85Pro) c.172G>C (p.Ala58Pro) | |
11 | g.2169802C>T | CA379112411 | TH | c.160G>A (p.Ala54Thr) c.91-107G>A (n.91-107G>A) c.103-107G>A (n.103-107G>A) c.241G>A (p.Ala81Thr) c.253G>A (p.Ala85Thr) c.172G>A (p.Ala58Thr) | dbSNP |
11 | g.2169803C>A | CA472018873 | TH | c.159G>T (p.Val53=) c.91-108G>T (n.91-108G>T) c.103-108G>T (n.103-108G>T) c.240G>T (p.Val80=) c.252G>T (p.Val84=) c.171G>T (p.Val57=) | dbSNP |
11 | g.2169803C= | CA1948009718 | TH | c.159G= (p.Val53=) c.91-108G= (n.91-108G=) c.103-108G= (n.103-108G=) c.240G= (p.Val80=) c.252G= (p.Val84=) c.171G= (p.Val57=) | |
11 | g.2169803C>G | CA472018875 | TH | c.159G>C (p.Val53=) c.91-108G>C (n.91-108G>C) c.103-108G>C (n.103-108G>C) c.240G>C (p.Val80=) c.252G>C (p.Val84=) c.171G>C (p.Val57=) | |
11 | g.2169803C>T | CA472018874 | TH | c.159G>A (p.Val53=) c.91-108G>A (n.91-108G>A) c.103-108G>A (n.103-108G>A) c.240G>A (p.Val80=) c.252G>A (p.Val84=) c.171G>A (p.Val57=) | dbSNP gnomAD v2 |
11 | g.2169804A= | CA1948009720 | TH | c.158T= (p.Val53=) c.91-109T= (n.91-109T=) c.103-109T= (n.103-109T=) c.239T= (p.Val80=) c.251T= (p.Val84=) c.170T= (p.Val57=) | |
11 | g.2169804A>C | CA379112413 | TH | c.158T>G (p.Val53Gly) c.91-109T>G (n.91-109T>G) c.103-109T>G (n.103-109T>G) c.239T>G (p.Val80Gly) c.251T>G (p.Val84Gly) c.170T>G (p.Val57Gly) | |
11 | g.2169804A>G | CA379112414 | TH | c.158T>C (p.Val53Ala) c.91-109T>C (n.91-109T>C) c.103-109T>C (n.103-109T>C) c.239T>C (p.Val80Ala) c.251T>C (p.Val84Ala) c.170T>C (p.Val57Ala) | dbSNP |
11 | g.2169804A>T | CA379112415 | TH | c.158T>A (p.Val53Glu) c.91-109T>A (n.91-109T>A) c.103-109T>A (n.103-109T>A) c.239T>A (p.Val80Glu) c.251T>A (p.Val84Glu) c.170T>A (p.Val57Glu) | |
11 | g.2169805C>A | CA379112416 | TH | c.157G>T (p.Val53Leu) c.91-110G>T (n.91-110G>T) c.103-110G>T (n.103-110G>T) c.238G>T (p.Val80Leu) c.250G>T (p.Val84Leu) c.169G>T (p.Val57Leu) | |
11 | g.2169805C>G | CA379112417 | TH | c.157G>C (p.Val53Leu) c.91-110G>C (n.91-110G>C) c.103-110G>C (n.103-110G>C) c.238G>C (p.Val80Leu) c.250G>C (p.Val84Leu) c.169G>C (p.Val57Leu) | |
11 | g.2169805C>T | CA379112418 | TH | c.157G>A (p.Val53Met) c.91-110G>A (n.91-110G>A) c.103-110G>A (n.103-110G>A) c.238G>A (p.Val80Met) c.250G>A (p.Val84Met) c.169G>A (p.Val57Met) | |
11 | g.2169806C>A | CA472018876 | TH | c.156G>T (p.Ala52=) c.91-111G>T (n.91-111G>T) c.103-111G>T (n.103-111G>T) c.237G>T (p.Ala79=) c.249G>T (p.Ala83=) c.168G>T (p.Ala56=) | ClinVar dbSNP |
11 | g.2169806C= | CA1948009723 | TH | c.156G= (p.Ala52=) c.91-111G= (n.91-111G=) c.103-111G= (n.103-111G=) c.237G= (p.Ala79=) c.249G= (p.Ala83=) c.168G= (p.Ala56=) | |
11 | g.2169806C>G | CA5818780 | TH | c.156G>C (p.Ala52=) c.91-111G>C (n.91-111G>C) c.103-111G>C (n.103-111G>C) c.237G>C (p.Ala79=) c.249G>C (p.Ala83=) c.168G>C (p.Ala56=) | dbSNP ExAC gnomAD v4 |
11 | g.2169806C>T | CA472018877 | TH | c.156G>A (p.Ala52=) c.91-111G>A (n.91-111G>A) c.103-111G>A (n.103-111G>A) c.237G>A (p.Ala79=) c.249G>A (p.Ala83=) c.168G>A (p.Ala56=) | ClinVar dbSNP gnomAD v4 |
11 | g.2169807G>A | CA379112419 | TH | c.155C>T (p.Ala52Val) c.91-112C>T (n.91-112C>T) c.103-112C>T (n.103-112C>T) c.236C>T (p.Ala79Val) c.248C>T (p.Ala83Val) c.167C>T (p.Ala56Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169807G>C | CA379112420 | TH | c.155C>G (p.Ala52Gly) c.91-112C>G (n.91-112C>G) c.103-112C>G (n.103-112C>G) c.236C>G (p.Ala79Gly) c.248C>G (p.Ala83Gly) c.167C>G (p.Ala56Gly) | |
11 | g.2169807G= | CA1948009727 | TH | c.155C= (p.Ala52=) c.91-112C= (n.91-112C=) c.103-112C= (n.103-112C=) c.236C= (p.Ala79=) c.248C= (p.Ala83=) c.167C= (p.Ala56=) | |
11 | g.2169807G>T | CA379112421 | TH | c.155C>A (p.Ala52Glu) c.91-112C>A (n.91-112C>A) c.103-112C>A (n.103-112C>A) c.236C>A (p.Ala79Glu) c.248C>A (p.Ala83Glu) c.167C>A (p.Ala56Glu) | gnomAD v4 |
11 | g.2169808C>A | CA379112422 | TH | c.154G>T (p.Ala52Ser) c.91-113G>T (n.91-113G>T) c.103-113G>T (n.103-113G>T) c.235G>T (p.Ala79Ser) c.247G>T (p.Ala83Ser) c.166G>T (p.Ala56Ser) | |
11 | g.2169808C>G | CA379112423 | TH | c.154G>C (p.Ala52Pro) c.91-113G>C (n.91-113G>C) c.103-113G>C (n.103-113G>C) c.235G>C (p.Ala79Pro) c.247G>C (p.Ala83Pro) c.166G>C (p.Ala56Pro) | |
11 | g.2169808C>T | CA379112424 | TH | c.154G>A (p.Ala52Thr) c.91-113G>A (n.91-113G>A) c.103-113G>A (n.103-113G>A) c.235G>A (p.Ala79Thr) c.247G>A (p.Ala83Thr) c.166G>A (p.Ala56Thr) | COSMIC |
11 | g.2169809C>A | CA472018878 | TH | c.153G>T (p.Ala51=) c.91-114G>T (n.91-114G>T) c.103-114G>T (n.103-114G>T) c.234G>T (p.Ala78=) c.246G>T (p.Ala82=) c.165G>T (p.Ala55=) | |
11 | g.2169809C= | CA1948009729 | TH | c.153G= (p.Ala51=) c.91-114G= (n.91-114G=) c.103-114G= (n.103-114G=) c.234G= (p.Ala78=) c.246G= (p.Ala82=) c.165G= (p.Ala55=) | |
11 | g.2169809C>G | CA472018879 | TH | c.153G>C (p.Ala51=) c.91-114G>C (n.91-114G>C) c.103-114G>C (n.103-114G>C) c.234G>C (p.Ala78=) c.246G>C (p.Ala82=) c.165G>C (p.Ala55=) | |
11 | g.2169809C>T | CA5818781 | TH | c.153G>A (p.Ala51=) c.91-114G>A (n.91-114G>A) c.103-114G>A (n.103-114G>A) c.234G>A (p.Ala78=) c.246G>A (p.Ala82=) c.165G>A (p.Ala55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169810G>A | CA5818782 | TH | c.152C>T (p.Ala51Val) c.91-115C>T (n.91-115C>T) c.103-115C>T (n.103-115C>T) c.233C>T (p.Ala78Val) c.245C>T (p.Ala82Val) c.164C>T (p.Ala55Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169810G>C | CA379112425 | TH | c.152C>G (p.Ala51Gly) c.91-115C>G (n.91-115C>G) c.103-115C>G (n.103-115C>G) c.233C>G (p.Ala78Gly) c.245C>G (p.Ala82Gly) c.164C>G (p.Ala55Gly) | |
11 | g.2169810G= | CA1948009732 | TH | c.152C= (p.Ala51=) c.91-115C= (n.91-115C=) c.103-115C= (n.103-115C=) c.233C= (p.Ala78=) c.245C= (p.Ala82=) c.164C= (p.Ala55=) | |
11 | g.2169810G>T | CA379112426 | TH | c.152C>A (p.Ala51Glu) c.91-115C>A (n.91-115C>A) c.103-115C>A (n.103-115C>A) c.233C>A (p.Ala78Glu) c.245C>A (p.Ala82Glu) c.164C>A (p.Ala55Glu) | |
11 | g.2169811C>A | CA379112427 | TH | c.151G>T (p.Ala51Ser) c.91-116G>T (n.91-116G>T) c.103-116G>T (n.103-116G>T) c.232G>T (p.Ala78Ser) c.244G>T (p.Ala82Ser) c.163G>T (p.Ala55Ser) | |
11 | g.2169811C= | CA1948009734 | TH | c.151G= (p.Ala51=) c.91-116G= (n.91-116G=) c.103-116G= (n.103-116G=) c.232G= (p.Ala78=) c.244G= (p.Ala82=) c.163G= (p.Ala55=) | |
11 | g.2169811C>G | CA379112428 | TH | c.151G>C (p.Ala51Pro) c.91-116G>C (n.91-116G>C) c.103-116G>C (n.103-116G>C) c.232G>C (p.Ala78Pro) c.244G>C (p.Ala82Pro) c.163G>C (p.Ala55Pro) | |
11 | g.2169811C>T | CA379112429 | TH | c.151G>A (p.Ala51Thr) c.91-116G>A (n.91-116G>A) c.103-116G>A (n.103-116G>A) c.232G>A (p.Ala78Thr) c.244G>A (p.Ala82Thr) c.163G>A (p.Ala55Thr) | ClinVar dbSNP gnomAD v2 |
11 | g.2169812C>A | CA379112430 | TH | c.150G>T (p.Glu50Asp) c.91-117G>T (n.91-117G>T) c.103-117G>T (n.103-117G>T) c.231G>T (p.Glu77Asp) c.243G>T (p.Glu81Asp) c.162G>T (p.Glu54Asp) | |
11 | g.2169812C= | CA1948009737 | TH | c.150G= (p.Glu50=) c.91-117G= (n.91-117G=) c.103-117G= (n.103-117G=) c.231G= (p.Glu77=) c.243G= (p.Glu81=) c.162G= (p.Glu54=) | |
11 | g.2169812C>G | CA379112431 | TH | c.150G>C (p.Glu50Asp) c.91-117G>C (n.91-117G>C) c.103-117G>C (n.103-117G>C) c.231G>C (p.Glu77Asp) c.243G>C (p.Glu81Asp) c.162G>C (p.Glu54Asp) | |
11 | g.2169812C>T | CA5818783 | TH | c.150G>A (p.Glu50=) c.91-117G>A (n.91-117G>A) c.103-117G>A (n.103-117G>A) c.231G>A (p.Glu77=) c.243G>A (p.Glu81=) c.162G>A (p.Glu54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169813T>A | CA379112432 | TH | c.149A>T (p.Glu50Val) c.91-118A>T (n.91-118A>T) c.103-118A>T (n.103-118A>T) c.230A>T (p.Glu77Val) c.242A>T (p.Glu81Val) c.161A>T (p.Glu54Val) | |
11 | g.2169813T>C | CA379112433 | TH | c.149A>G (p.Glu50Gly) c.91-118A>G (n.91-118A>G) c.103-118A>G (n.103-118A>G) c.230A>G (p.Glu77Gly) c.242A>G (p.Glu81Gly) c.161A>G (p.Glu54Gly) | |
11 | g.2169813T>G | CA379112434 | TH | c.149A>C (p.Glu50Ala) c.91-118A>C (n.91-118A>C) c.103-118A>C (n.103-118A>C) c.230A>C (p.Glu77Ala) c.242A>C (p.Glu81Ala) c.161A>C (p.Glu54Ala) | |
11 | g.2169814C>A | CA379112437 | TH | c.148G>T (p.Glu50Ter) c.91-119G>T (n.91-119G>T) c.103-119G>T (n.103-119G>T) c.229G>T (p.Glu77Ter) c.241G>T (p.Glu81Ter) c.160G>T (p.Glu54Ter) | |
11 | g.2169814C>G | CA379112436 | TH | c.148G>C (p.Glu50Gln) c.91-119G>C (n.91-119G>C) c.103-119G>C (n.103-119G>C) c.229G>C (p.Glu77Gln) c.241G>C (p.Glu81Gln) c.160G>C (p.Glu54Gln) | |
11 | g.2169814C>T | CA379112435 | TH | c.148G>A (p.Glu50Lys) c.91-119G>A (n.91-119G>A) c.103-119G>A (n.103-119G>A) c.229G>A (p.Glu77Lys) c.241G>A (p.Glu81Lys) c.160G>A (p.Glu54Lys) | gnomAD v4 |
11 | g.2169816dup | CA2838970882 | TH | c.148dup (p.Glu50GlyfsTer25) c.91-119dup (n.91-119dup) c.103-119dup (n.103-119dup) c.229dup (p.Glu77GlyfsTer25) c.241dup (p.Glu81GlyfsTer25) c.160dup (p.Glu54GlyfsTer25) | |
11 | g.2169815C>A | CA472018880 | TH | c.147G>T (p.Arg49=) c.91-120G>T (n.91-120G>T) c.103-120G>T (n.103-120G>T) c.228G>T (p.Arg76=) c.240G>T (p.Arg80=) c.159G>T (p.Arg53=) | |
11 | g.2169815C>G | CA472018882 | TH | c.147G>C (p.Arg49=) c.91-120G>C (n.91-120G>C) c.103-120G>C (n.103-120G>C) c.228G>C (p.Arg76=) c.240G>C (p.Arg80=) c.159G>C (p.Arg53=) | gnomAD v4 |
11 | g.2169815C>T | CA472018881 | TH | c.147G>A (p.Arg49=) c.91-120G>A (n.91-120G>A) c.103-120G>A (n.103-120G>A) c.228G>A (p.Arg76=) c.240G>A (p.Arg80=) c.159G>A (p.Arg53=) | |
11 | g.2169816C>A | CA379112438 | TH | c.146G>T (p.Arg49Leu) c.91-121G>T (n.91-121G>T) c.103-121G>T (n.103-121G>T) c.227G>T (p.Arg76Leu) c.239G>T (p.Arg80Leu) c.158G>T (p.Arg53Leu) | gnomAD v4 |
11 | g.2169816C= | CA1948009738 | TH | c.146G= (p.Arg49=) c.91-121G= (n.91-121G=) c.103-121G= (n.103-121G=) c.227G= (p.Arg76=) c.239G= (p.Arg80=) c.158G= (p.Arg53=) | |
11 | g.2169816C>G | CA379112439 | TH | c.146G>C (p.Arg49Pro) c.91-121G>C (n.91-121G>C) c.103-121G>C (n.103-121G>C) c.227G>C (p.Arg76Pro) c.239G>C (p.Arg80Pro) c.158G>C (p.Arg53Pro) | |
11 | g.2169816C>T | CA5818784 | TH | c.146G>A (p.Arg49Gln) c.91-121G>A (n.91-121G>A) c.103-121G>A (n.103-121G>A) c.227G>A (p.Arg76Gln) c.239G>A (p.Arg80Gln) c.158G>A (p.Arg53Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169817G>A | CA379112440 | TH | c.145C>T (p.Arg49Trp) c.91-122C>T (n.91-122C>T) c.103-122C>T (n.103-122C>T) c.226C>T (p.Arg76Trp) c.238C>T (p.Arg80Trp) c.157C>T (p.Arg53Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169817G>C | CA379112441 | TH | c.145C>G (p.Arg49Gly) c.91-122C>G (n.91-122C>G) c.103-122C>G (n.103-122C>G) c.226C>G (p.Arg76Gly) c.238C>G (p.Arg80Gly) c.157C>G (p.Arg53Gly) | |
11 | g.2169817G= | CA1948009741 | TH | c.145C= (p.Arg49=) c.91-122C= (n.91-122C=) c.103-122C= (n.103-122C=) c.226C= (p.Arg76=) c.238C= (p.Arg80=) c.157C= (p.Arg53=) | |
11 | g.2169817G>T | CA472018883 | TH | c.145C>A (p.Arg49=) c.91-122C>A (n.91-122C>A) c.103-122C>A (n.103-122C>A) c.226C>A (p.Arg76=) c.238C>A (p.Arg80=) c.157C>A (p.Arg53=) | gnomAD v4 |
11 | g.2169818C>A | CA379112442 | TH | c.144G>T (p.Glu48Asp) c.91-123G>T (n.91-123G>T) c.103-123G>T (n.103-123G>T) c.225G>T (p.Glu75Asp) c.237G>T (p.Glu79Asp) c.156G>T (p.Glu52Asp) | gnomAD v4 |
11 | g.2169818C= | CA1948009744 | TH | c.144G= (p.Glu48=) c.91-123G= (n.91-123G=) c.103-123G= (n.103-123G=) c.225G= (p.Glu75=) c.237G= (p.Glu79=) c.156G= (p.Glu52=) | |
11 | g.2169818C>G | CA379112443 | TH | c.144G>C (p.Glu48Asp) c.91-123G>C (n.91-123G>C) c.103-123G>C (n.103-123G>C) c.225G>C (p.Glu75Asp) c.237G>C (p.Glu79Asp) c.156G>C (p.Glu52Asp) | |
11 | g.2169818C>T | CA472018884 | TH | c.144G>A (p.Glu48=) c.91-123G>A (n.91-123G>A) c.103-123G>A (n.103-123G>A) c.225G>A (p.Glu75=) c.237G>A (p.Glu79=) c.156G>A (p.Glu52=) | dbSNP |
11 | g.2169819T>A | CA379112444 | TH | c.143A>T (p.Glu48Val) c.91-124A>T (n.91-124A>T) c.103-124A>T (n.103-124A>T) c.224A>T (p.Glu75Val) c.236A>T (p.Glu79Val) c.155A>T (p.Glu52Val) | |
11 | g.2169819T>C | CA379112445 | TH | c.143A>G (p.Glu48Gly) c.91-124A>G (n.91-124A>G) c.103-124A>G (n.103-124A>G) c.224A>G (p.Glu75Gly) c.236A>G (p.Glu79Gly) c.155A>G (p.Glu52Gly) | |
11 | g.2169819T>G | CA379112446 | TH | c.143A>C (p.Glu48Ala) c.91-124A>C (n.91-124A>C) c.103-124A>C (n.103-124A>C) c.224A>C (p.Glu75Ala) c.236A>C (p.Glu79Ala) c.155A>C (p.Glu52Ala) | |
11 | g.2169820C>A | CA379112447 | TH | c.142G>T (p.Glu48Ter) c.91-125G>T (n.91-125G>T) c.103-125G>T (n.103-125G>T) c.223G>T (p.Glu75Ter) c.235G>T (p.Glu79Ter) c.154G>T (p.Glu52Ter) | COSMIC |
11 | g.2169820C>G | CA379112448 | TH | c.142G>C (p.Glu48Gln) c.91-125G>C (n.91-125G>C) c.103-125G>C (n.103-125G>C) c.223G>C (p.Glu75Gln) c.235G>C (p.Glu79Gln) c.154G>C (p.Glu52Gln) | |
11 | g.2169820C>T | CA379112449 | TH | c.142G>A (p.Glu48Lys) c.91-125G>A (n.91-125G>A) c.103-125G>A (n.103-125G>A) c.223G>A (p.Glu75Lys) c.235G>A (p.Glu79Lys) c.154G>A (p.Glu52Lys) | COSMIC |
11 | g.2169821C>A | CA379112451 | TH | c.141G>T (p.Lys47Asn) c.91-126G>T (n.91-126G>T) c.103-126G>T (n.103-126G>T) c.222G>T (p.Lys74Asn) c.234G>T (p.Lys78Asn) c.153G>T (p.Lys51Asn) | COSMIC |
11 | g.2169821C>G | CA379112450 | TH | c.141G>C (p.Lys47Asn) c.91-126G>C (n.91-126G>C) c.103-126G>C (n.103-126G>C) c.222G>C (p.Lys74Asn) c.234G>C (p.Lys78Asn) c.153G>C (p.Lys51Asn) | |
11 | g.2169821C>T | CA472018885 | TH | c.141G>A (p.Lys47=) c.91-126G>A (n.91-126G>A) c.103-126G>A (n.103-126G>A) c.222G>A (p.Lys74=) c.234G>A (p.Lys78=) c.153G>A (p.Lys51=) | gnomAD v4 |
11 | g.2169822T>A | CA379112452 | TH | c.140A>T (p.Lys47Met) c.91-127A>T (n.91-127A>T) c.103-127A>T (n.103-127A>T) c.221A>T (p.Lys74Met) c.233A>T (p.Lys78Met) c.152A>T (p.Lys51Met) | gnomAD v4 |
11 | g.2169822T>C | CA379112453 | TH | c.140A>G (p.Lys47Arg) c.91-127A>G (n.91-127A>G) c.103-127A>G (n.103-127A>G) c.221A>G (p.Lys74Arg) c.233A>G (p.Lys78Arg) c.152A>G (p.Lys51Arg) | gnomAD v4 |
11 | g.2169822T>G | CA379112454 | TH | c.140A>C (p.Lys47Thr) c.91-127A>C (n.91-127A>C) c.103-127A>C (n.103-127A>C) c.221A>C (p.Lys74Thr) c.233A>C (p.Lys78Thr) c.152A>C (p.Lys51Thr) | |
11 | g.2169823T>A | CA379112455 | TH | c.139A>T (p.Lys47Ter) c.91-128A>T (n.91-128A>T) c.103-128A>T (n.103-128A>T) c.220A>T (p.Lys74Ter) c.232A>T (p.Lys78Ter) c.151A>T (p.Lys51Ter) | |
11 | g.2169823T>C | CA379112456 | TH | c.139A>G (p.Lys47Glu) c.91-128A>G (n.91-128A>G) c.103-128A>G (n.103-128A>G) c.220A>G (p.Lys74Glu) c.232A>G (p.Lys78Glu) c.151A>G (p.Lys51Glu) | gnomAD v4 |
11 | g.2169823T>G | CA379112457 | TH | c.139A>C (p.Lys47Gln) c.91-128A>C (n.91-128A>C) c.103-128A>C (n.103-128A>C) c.220A>C (p.Lys74Gln) c.232A>C (p.Lys78Gln) c.151A>C (p.Lys51Gln) | |
11 | g.2169824G>A | CA472018886 | TH | c.138C>T (p.Arg46=) c.91-129C>T (n.91-129C>T) c.103-129C>T (n.103-129C>T) c.219C>T (p.Arg73=) c.231C>T (p.Arg77=) c.150C>T (p.Arg50=) | gnomAD v4 |
11 | g.2169824G>C | CA472018887 | TH | c.138C>G (p.Arg46=) c.91-129C>G (n.91-129C>G) c.103-129C>G (n.103-129C>G) c.219C>G (p.Arg73=) c.231C>G (p.Arg77=) c.150C>G (p.Arg50=) | |
11 | g.2169824G>T | CA472018888 | TH | c.138C>A (p.Arg46=) c.91-129C>A (n.91-129C>A) c.103-129C>A (n.103-129C>A) c.219C>A (p.Arg73=) c.231C>A (p.Arg77=) c.150C>A (p.Arg50=) | ClinVar gnomAD v4 |
11 | g.2169824dup | CA2580082708 | TH | c.138dup (p.Lys47GlnfsTer28) c.91-129dup (n.91-129dup) c.103-129dup (n.103-129dup) c.219dup (p.Lys74GlnfsTer28) c.231dup (p.Lys78GlnfsTer28) c.150dup (p.Lys51GlnfsTer28) | ClinVar |
11 | g.2169825C>A | CA379112458 | TH | c.137G>T (p.Arg46Leu) c.91-130G>T (n.91-130G>T) c.103-130G>T (n.103-130G>T) c.218G>T (p.Arg73Leu) c.230G>T (p.Arg77Leu) c.149G>T (p.Arg50Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169825C= | CA1948009746 | TH | c.137G= (p.Arg46=) c.91-130G= (n.91-130G=) c.103-130G= (n.103-130G=) c.218G= (p.Arg73=) c.230G= (p.Arg77=) c.149G= (p.Arg50=) | |
11 | g.2169825C>G | CA379112459 | TH | c.137G>C (p.Arg46Pro) c.91-130G>C (n.91-130G>C) c.103-130G>C (n.103-130G>C) c.218G>C (p.Arg73Pro) c.230G>C (p.Arg77Pro) c.149G>C (p.Arg50Pro) | |
11 | g.2169825C>T | CA5818785 | TH | c.137G>A (p.Arg46His) c.91-130G>A (n.91-130G>A) c.103-130G>A (n.103-130G>A) c.218G>A (p.Arg73His) c.230G>A (p.Arg77His) c.149G>A (p.Arg50His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169826G>A | CA379112460 | TH | c.136C>T (p.Arg46Cys) c.91-131C>T (n.91-131C>T) c.103-131C>T (n.103-131C>T) c.217C>T (p.Arg73Cys) c.229C>T (p.Arg77Cys) c.148C>T (p.Arg50Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169826G>C | CA379112461 | TH | c.136C>G (p.Arg46Gly) c.91-131C>G (n.91-131C>G) c.103-131C>G (n.103-131C>G) c.217C>G (p.Arg73Gly) c.229C>G (p.Arg77Gly) c.148C>G (p.Arg50Gly) | |
11 | g.2169826G= | CA1948009748 | TH | c.136C= (p.Arg46=) c.91-131C= (n.91-131C=) c.103-131C= (n.103-131C=) c.217C= (p.Arg73=) c.229C= (p.Arg77=) c.148C= (p.Arg50=) | |
11 | g.2169826G>T | CA379112462 | TH | c.136C>A (p.Arg46Ser) c.91-131C>A (n.91-131C>A) c.103-131C>A (n.103-131C>A) c.217C>A (p.Arg73Ser) c.229C>A (p.Arg77Ser) c.148C>A (p.Arg50Ser) | gnomAD v4 |
11 | g.2169827G>A | CA472018889 | TH | c.135C>T (p.Ala45=) c.91-132C>T (n.91-132C>T) c.103-132C>T (n.103-132C>T) c.216C>T (p.Ala72=) c.228C>T (p.Ala76=) c.147C>T (p.Ala49=) | ClinVar dbSNP gnomAD v4 |
11 | g.2169827G>C | CA472018890 | TH | c.135C>G (p.Ala45=) c.91-132C>G (n.91-132C>G) c.103-132C>G (n.103-132C>G) c.216C>G (p.Ala72=) c.228C>G (p.Ala76=) c.147C>G (p.Ala49=) | |
11 | g.2169827G= | CA1948009750 | TH | c.135C= (p.Ala45=) c.91-132C= (n.91-132C=) c.103-132C= (n.103-132C=) c.216C= (p.Ala72=) c.228C= (p.Ala76=) c.147C= (p.Ala49=) | |
11 | g.2169827G>T | CA472018891 | TH | c.135C>A (p.Ala45=) c.91-132C>A (n.91-132C>A) c.103-132C>A (n.103-132C>A) c.216C>A (p.Ala72=) c.228C>A (p.Ala76=) c.147C>A (p.Ala49=) | dbSNP gnomAD v2 |
11 | g.2169828G>A | CA379112463 | TH | c.134C>T (p.Ala45Val) c.91-133C>T (n.91-133C>T) c.103-133C>T (n.103-133C>T) c.215C>T (p.Ala72Val) c.227C>T (p.Ala76Val) c.146C>T (p.Ala49Val) | |
11 | g.2169828G>C | CA379112465 | TH | c.134C>G (p.Ala45Gly) c.91-133C>G (n.91-133C>G) c.103-133C>G (n.103-133C>G) c.215C>G (p.Ala72Gly) c.227C>G (p.Ala76Gly) c.146C>G (p.Ala49Gly) | |
11 | g.2169828G>T | CA379112464 | TH | c.134C>A (p.Ala45Asp) c.91-133C>A (n.91-133C>A) c.103-133C>A (n.103-133C>A) c.215C>A (p.Ala72Asp) c.227C>A (p.Ala76Asp) c.146C>A (p.Ala49Asp) | |
11 | g.2169829C>A | CA379112466 | TH | c.133G>T (p.Ala45Ser) c.91-134G>T (n.91-134G>T) c.103-134G>T (n.103-134G>T) c.214G>T (p.Ala72Ser) c.226G>T (p.Ala76Ser) c.145G>T (p.Ala49Ser) | |
11 | g.2169829C= | CA1948009753 | TH | c.133G= (p.Ala45=) c.91-134G= (n.91-134G=) c.103-134G= (n.103-134G=) c.214G= (p.Ala72=) c.226G= (p.Ala76=) c.145G= (p.Ala49=) | |
11 | g.2169829C>G | CA379112468 | TH | c.133G>C (p.Ala45Pro) c.91-134G>C (n.91-134G>C) c.103-134G>C (n.103-134G>C) c.214G>C (p.Ala72Pro) c.226G>C (p.Ala76Pro) c.145G>C (p.Ala49Pro) | |
11 | g.2169829C>T | CA379112467 | TH | c.133G>A (p.Ala45Thr) c.91-134G>A (n.91-134G>A) c.103-134G>A (n.103-134G>A) c.214G>A (p.Ala72Thr) c.226G>A (p.Ala76Thr) c.145G>A (p.Ala49Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2169830G>A | CA5818786 | TH | c.132C>T (p.Asp44=) c.91-135C>T (n.91-135C>T) c.103-135C>T (n.103-135C>T) c.213C>T (p.Asp71=) c.225C>T (p.Asp75=) c.144C>T (p.Asp48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169830G>C | CA379112470 | TH | c.132C>G (p.Asp44Glu) c.91-135C>G (n.91-135C>G) c.103-135C>G (n.103-135C>G) c.213C>G (p.Asp71Glu) c.225C>G (p.Asp75Glu) c.144C>G (p.Asp48Glu) | |
11 | g.2169830G= | CA1948009756 | TH | c.132C= (p.Asp44=) c.91-135C= (n.91-135C=) c.103-135C= (n.103-135C=) c.213C= (p.Asp71=) c.225C= (p.Asp75=) c.144C= (p.Asp48=) | |
11 | g.2169830G>T | CA379112469 | TH | c.132C>A (p.Asp44Glu) c.91-135C>A (n.91-135C>A) c.103-135C>A (n.103-135C>A) c.213C>A (p.Asp71Glu) c.225C>A (p.Asp75Glu) c.144C>A (p.Asp48Glu) | |
11 | g.2169831T>A | CA379112471 | TH | c.131A>T (p.Asp44Val) c.91-136A>T (n.91-136A>T) c.103-136A>T (n.103-136A>T) c.212A>T (p.Asp71Val) c.224A>T (p.Asp75Val) c.143A>T (p.Asp48Val) | |
11 | g.2169831T>C | CA379112473 | TH | c.131A>G (p.Asp44Gly) c.91-136A>G (n.91-136A>G) c.103-136A>G (n.103-136A>G) c.212A>G (p.Asp71Gly) c.224A>G (p.Asp75Gly) c.143A>G (p.Asp48Gly) | |
11 | g.2169831T>G | CA379112472 | TH | c.131A>C (p.Asp44Ala) c.91-136A>C (n.91-136A>C) c.103-136A>C (n.103-136A>C) c.212A>C (p.Asp71Ala) c.224A>C (p.Asp75Ala) c.143A>C (p.Asp48Ala) | |
11 | g.2169832C>A | CA379112474 | TH | c.130G>T (p.Asp44Tyr) c.91-137G>T (n.91-137G>T) c.103-137G>T (n.103-137G>T) c.211G>T (p.Asp71Tyr) c.223G>T (p.Asp75Tyr) c.142G>T (p.Asp48Tyr) | |
11 | g.2169832C>G | CA379112475 | TH | c.130G>C (p.Asp44His) c.91-137G>C (n.91-137G>C) c.103-137G>C (n.103-137G>C) c.211G>C (p.Asp71His) c.223G>C (p.Asp75His) c.142G>C (p.Asp48His) | |
11 | g.2169832C>T | CA379112476 | TH | c.130G>A (p.Asp44Asn) c.91-137G>A (n.91-137G>A) c.103-137G>A (n.103-137G>A) c.211G>A (p.Asp71Asn) c.223G>A (p.Asp75Asn) c.142G>A (p.Asp48Asn) | |
11 | g.2169833C>A | CA379112477 | TH | c.129G>T (p.Glu43Asp) c.91-138G>T (n.91-138G>T) c.103-138G>T (n.103-138G>T) c.210G>T (p.Glu70Asp) c.222G>T (p.Glu74Asp) c.141G>T (p.Glu47Asp) | gnomAD v4 |
11 | g.2169833C>G | CA379112478 | TH | c.129G>C (p.Glu43Asp) c.91-138G>C (n.91-138G>C) c.103-138G>C (n.103-138G>C) c.210G>C (p.Glu70Asp) c.222G>C (p.Glu74Asp) c.141G>C (p.Glu47Asp) | |
11 | g.2169833C>T | CA472018892 | TH | c.129G>A (p.Glu43=) c.91-138G>A (n.91-138G>A) c.103-138G>A (n.103-138G>A) c.210G>A (p.Glu70=) c.222G>A (p.Glu74=) c.141G>A (p.Glu47=) | |
11 | g.2169834T>A | CA379112479 | TH | c.128A>T (p.Glu43Val) c.91-139A>T (n.91-139A>T) c.103-139A>T (n.103-139A>T) c.209A>T (p.Glu70Val) c.221A>T (p.Glu74Val) c.140A>T (p.Glu47Val) | |
11 | g.2169834T>C | CA379112480 | TH | c.128A>G (p.Glu43Gly) c.91-139A>G (n.91-139A>G) c.103-139A>G (n.103-139A>G) c.209A>G (p.Glu70Gly) c.221A>G (p.Glu74Gly) c.140A>G (p.Glu47Gly) | |
11 | g.2169834T>G | CA379112481 | TH | c.128A>C (p.Glu43Ala) c.91-139A>C (n.91-139A>C) c.103-139A>C (n.103-139A>C) c.209A>C (p.Glu70Ala) c.221A>C (p.Glu74Ala) c.140A>C (p.Glu47Ala) | |
11 | g.2169835C>A | CA379112482 | TH | c.127G>T (p.Glu43Ter) c.91-140G>T (n.91-140G>T) c.103-140G>T (n.103-140G>T) c.208G>T (p.Glu70Ter) c.220G>T (p.Glu74Ter) c.139G>T (p.Glu47Ter) | |
11 | g.2169835C= | CA1948009759 | TH | c.127G= (p.Glu43=) c.91-140G= (n.91-140G=) c.103-140G= (n.103-140G=) c.208G= (p.Glu70=) c.220G= (p.Glu74=) c.139G= (p.Glu47=) | |
11 | g.2169835C>G | CA379112483 | TH | c.127G>C (p.Glu43Gln) c.91-140G>C (n.91-140G>C) c.103-140G>C (n.103-140G>C) c.208G>C (p.Glu70Gln) c.220G>C (p.Glu74Gln) c.139G>C (p.Glu47Gln) | |
11 | g.2169835C>T | CA5818787 | TH | c.127G>A (p.Glu43Lys) c.91-140G>A (n.91-140G>A) c.103-140G>A (n.103-140G>A) c.208G>A (p.Glu70Lys) c.220G>A (p.Glu74Lys) c.139G>A (p.Glu47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169836G>A | CA472018893 | TH | c.126C>T (p.Ile42=) c.91-141C>T (n.91-141C>T) c.103-141C>T (n.103-141C>T) c.207C>T (p.Ile69=) c.219C>T (p.Ile73=) c.138C>T (p.Ile46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169836G>C | CA379112484 | TH | c.126C>G (p.Ile42Met) c.91-141C>G (n.91-141C>G) c.103-141C>G (n.103-141C>G) c.207C>G (p.Ile69Met) c.219C>G (p.Ile73Met) c.138C>G (p.Ile46Met) | |
11 | g.2169836G= | CA1948009762 | TH | c.126C= (p.Ile42=) c.91-141C= (n.91-141C=) c.103-141C= (n.103-141C=) c.207C= (p.Ile69=) c.219C= (p.Ile73=) c.138C= (p.Ile46=) | |
11 | g.2169836G>T | CA5818788 | TH | c.126C>A (p.Ile42=) c.91-141C>A (n.91-141C>A) c.103-141C>A (n.103-141C>A) c.207C>A (p.Ile69=) c.219C>A (p.Ile73=) c.138C>A (p.Ile46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169837A>C | CA379112485 | TH | c.125T>G (p.Ile42Ser) c.91-142T>G (n.91-142T>G) c.103-142T>G (n.103-142T>G) c.206T>G (p.Ile69Ser) c.218T>G (p.Ile73Ser) c.137T>G (p.Ile46Ser) | |
11 | g.2169837A>G | CA379112487 | TH | c.125T>C (p.Ile42Thr) c.91-142T>C (n.91-142T>C) c.103-142T>C (n.103-142T>C) c.206T>C (p.Ile69Thr) c.218T>C (p.Ile73Thr) c.137T>C (p.Ile46Thr) | |
11 | g.2169837A>T | CA379112486 | TH | c.125T>A (p.Ile42Asn) c.91-142T>A (n.91-142T>A) c.103-142T>A (n.103-142T>A) c.206T>A (p.Ile69Asn) c.218T>A (p.Ile73Asn) c.137T>A (p.Ile46Asn) | gnomAD v4 |
11 | g.2169838T>A | CA379112488 | TH | c.124A>T (p.Ile42Phe) c.91-143A>T (n.91-143A>T) c.103-143A>T (n.103-143A>T) c.205A>T (p.Ile69Phe) c.217A>T (p.Ile73Phe) c.136A>T (p.Ile46Phe) | |
11 | g.2169838T>C | CA379112489 | TH | c.124A>G (p.Ile42Val) c.91-143A>G (n.91-143A>G) c.103-143A>G (n.103-143A>G) c.205A>G (p.Ile69Val) c.217A>G (p.Ile73Val) c.136A>G (p.Ile46Val) | gnomAD v4 |
11 | g.2169838T>G | CA379112490 | TH | c.124A>C (p.Ile42Leu) c.91-143A>C (n.91-143A>C) c.103-143A>C (n.103-143A>C) c.205A>C (p.Ile69Leu) c.217A>C (p.Ile73Leu) c.136A>C (p.Ile46Leu) | |
11 | g.2169839G>A | CA472018894 | TH | c.123C>T (p.Leu41=) c.91-144C>T (n.91-144C>T) c.103-144C>T (n.103-144C>T) c.204C>T (p.Leu68=) c.216C>T (p.Leu72=) c.135C>T (p.Leu45=) | ClinVar dbSNP gnomAD v4 |
11 | g.2169839G>C | CA472018896 | TH | c.123C>G (p.Leu41=) c.91-144C>G (n.91-144C>G) c.103-144C>G (n.103-144C>G) c.204C>G (p.Leu68=) c.216C>G (p.Leu72=) c.135C>G (p.Leu45=) | |
11 | g.2169839G>T | CA472018895 | TH | c.123C>A (p.Leu41=) c.91-144C>A (n.91-144C>A) c.103-144C>A (n.103-144C>A) c.204C>A (p.Leu68=) c.216C>A (p.Leu72=) c.135C>A (p.Leu45=) | |
11 | g.2169840A>C | CA379112491 | TH | c.122T>G (p.Leu41Arg) c.91-145T>G (n.91-145T>G) c.103-145T>G (n.103-145T>G) c.203T>G (p.Leu68Arg) c.215T>G (p.Leu72Arg) c.134T>G (p.Leu45Arg) | |
11 | g.2169840A>G | CA379112492 | TH | c.122T>C (p.Leu41Pro) c.91-145T>C (n.91-145T>C) c.103-145T>C (n.103-145T>C) c.203T>C (p.Leu68Pro) c.215T>C (p.Leu72Pro) c.134T>C (p.Leu45Pro) | |
11 | g.2169840A>T | CA379112493 | TH | c.122T>A (p.Leu41His) c.91-145T>A (n.91-145T>A) c.103-145T>A (n.103-145T>A) c.203T>A (p.Leu68His) c.215T>A (p.Leu72His) c.134T>A (p.Leu45His) | |
11 | g.2169841G>A | CA379112494 | TH | c.121C>T (p.Leu41Phe) c.91-146C>T (n.91-146C>T) c.103-146C>T (n.103-146C>T) c.202C>T (p.Leu68Phe) c.214C>T (p.Leu72Phe) c.133C>T (p.Leu45Phe) | |
11 | g.2169841G>C | CA379112495 | TH | c.121C>G (p.Leu41Val) c.91-146C>G (n.91-146C>G) c.103-146C>G (n.103-146C>G) c.202C>G (p.Leu68Val) c.214C>G (p.Leu72Val) c.133C>G (p.Leu45Val) | |
11 | g.2169841G>T | CA379112496 | TH | c.121C>A (p.Leu41Ile) c.91-146C>A (n.91-146C>A) c.103-146C>A (n.103-146C>A) c.202C>A (p.Leu68Ile) c.214C>A (p.Leu72Ile) c.133C>A (p.Leu45Ile) | |
11 | g.2169842G>A | CA5818789 | TH | c.120C>T (p.Ser40=) c.91-147C>T (n.91-147C>T) c.103-147C>T (n.103-147C>T) c.201C>T (p.Ser67=) c.213C>T (p.Ser71=) c.132C>T (p.Ser44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2169842G>C | CA379112498 | TH | c.120C>G (p.Ser40Arg) c.91-147C>G (n.91-147C>G) c.103-147C>G (n.103-147C>G) c.201C>G (p.Ser67Arg) c.213C>G (p.Ser71Arg) c.132C>G (p.Ser44Arg) | |
11 | g.2169842G= | CA1948009765 | TH | c.120C= (p.Ser40=) c.91-147C= (n.91-147C=) c.103-147C= (n.103-147C=) c.201C= (p.Ser67=) c.213C= (p.Ser71=) c.132C= (p.Ser44=) | |
11 | g.2169842G>T | CA379112497 | TH | c.120C>A (p.Ser40Arg) c.91-147C>A (n.91-147C>A) c.103-147C>A (n.103-147C>A) c.201C>A (p.Ser67Arg) c.213C>A (p.Ser71Arg) c.132C>A (p.Ser44Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.2169842_2169843insAGATCGCCTTCCTCAACCAGTGGGTGGACGAGGGCTGGCGCGACACCGTACGTGACCTGGCTGGCGACGTGCAGGGACCCTA | CA2790190853 | TH | c.119_120insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu41ArgfsTer23) c.91-148_91-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.91-148_91-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT) c.103-148_103-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.103-148_103-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT) c.200_201insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu68ArgfsTer23) c.212_213insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu72ArgfsTer23) c.131_132insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu45ArgfsTer23) | |
11 | g.2169842_2169843insAGATCGCCTTCCTCAACCAGTGGGTGGACGAGGGCTGGCGCGACACCGTACGTGACCTGGCTGGCGACGTGCAGGGACCCTACTCGTGGTGGT | CA2790190852 | TH | c.119_120insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser40delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) c.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT) c.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT) c.200_201insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser67delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) c.212_213insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser71delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) c.131_132insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser44delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) | |
11 | g.2169842_2169843insAGATCGCCTTCCTCAACCAGTGGGTGGACGAGGGCTGGCGCGACACCGTACGTGACTTGGCTGGCGACGTGCAGGGACCCTACTCGTGGTGGT | CA2790190854 | TH | c.119_120insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser40delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) c.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT) c.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT) c.200_201insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser67delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) c.212_213insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser71delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) c.131_132insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser44delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu) | |
11 | g.2169843C>A | CA379112499 | TH | c.119G>T (p.Ser40Ile) c.91-148G>T (n.91-148G>T) c.103-148G>T (n.103-148G>T) c.200G>T (p.Ser67Ile) c.212G>T (p.Ser71Ile) c.131G>T (p.Ser44Ile) | |
11 | g.2169843C>G | CA379112500 | TH | c.119G>C (p.Ser40Thr) c.91-148G>C (n.91-148G>C) c.103-148G>C (n.103-148G>C) c.200G>C (p.Ser67Thr) c.212G>C (p.Ser71Thr) c.131G>C (p.Ser44Thr) | |
11 | g.2169843C>T | CA379112501 | TH | c.119G>A (p.Ser40Asn) c.91-148G>A (n.91-148G>A) c.103-148G>A (n.103-148G>A) c.200G>A (p.Ser67Asn) c.212G>A (p.Ser71Asn) c.131G>A (p.Ser44Asn) | |
11 | g.2169844T>A | CA379112502 | TH | c.118A>T (p.Ser40Cys) c.91-149A>T (n.91-149A>T) c.103-149A>T (n.103-149A>T) c.199A>T (p.Ser67Cys) c.211A>T (p.Ser71Cys) c.130A>T (p.Ser44Cys) | |
11 | g.2169844T>C | CA379112503 | TH | c.118A>G (p.Ser40Gly) c.91-149A>G (n.91-149A>G) c.103-149A>G (n.103-149A>G) c.199A>G (p.Ser67Gly) c.211A>G (p.Ser71Gly) c.130A>G (p.Ser44Gly) | |
11 | g.2169844T>G | CA379112504 | TH | c.118A>C (p.Ser40Arg) c.91-149A>C (n.91-149A>C) c.103-149A>C (n.103-149A>C) c.199A>C (p.Ser67Arg) c.211A>C (p.Ser71Arg) c.130A>C (p.Ser44Arg) | |
11 | g.2169845C>A | CA379112505 | TH | c.117G>T (p.Gln39His) c.91-150G>T (n.91-150G>T) c.103-150G>T (n.103-150G>T) c.198G>T (p.Gln66His) c.210G>T (p.Gln70His) c.129G>T (p.Gln43His) | |
11 | g.2169845C>G | CA379112506 | TH | c.117G>C (p.Gln39His) c.91-150G>C (n.91-150G>C) c.103-150G>C (n.103-150G>C) c.198G>C (p.Gln66His) c.210G>C (p.Gln70His) c.129G>C (p.Gln43His) | |
11 | g.2169845C>T | CA472018897 | TH | c.117G>A (p.Gln39=) c.91-150G>A (n.91-150G>A) c.103-150G>A (n.103-150G>A) c.198G>A (p.Gln66=) c.210G>A (p.Gln70=) c.129G>A (p.Gln43=) | |
11 | g.2169846T>A | CA379112507 | TH | c.116A>T (p.Gln39Leu) c.91-151A>T (n.91-151A>T) c.103-151A>T (n.103-151A>T) c.197A>T (p.Gln66Leu) c.209A>T (p.Gln70Leu) c.128A>T (p.Gln43Leu) | |
11 | g.2169846T>C | CA379112508 | TH | c.116A>G (p.Gln39Arg) c.91-151A>G (n.91-151A>G) c.103-151A>G (n.103-151A>G) c.197A>G (p.Gln66Arg) c.209A>G (p.Gln70Arg) c.128A>G (p.Gln43Arg) | |
11 | g.2169846T>G | CA379112509 | TH | c.116A>C (p.Gln39Pro) c.91-151A>C (n.91-151A>C) c.103-151A>C (n.103-151A>C) c.197A>C (p.Gln66Pro) c.209A>C (p.Gln70Pro) c.128A>C (p.Gln43Pro) | |
11 | g.2169847G>A | CA379112511 | TH | c.115C>T (p.Gln39Ter) c.91-152C>T (n.91-152C>T) c.103-152C>T (n.103-152C>T) c.196C>T (p.Gln66Ter) c.208C>T (p.Gln70Ter) c.127C>T (p.Gln43Ter) | |
11 | g.2169847G>C | CA10638157 | TH | c.115C>G (p.Gln39Glu) c.91-152C>G (n.91-152C>G) c.103-152C>G (n.103-152C>G) c.196C>G (p.Gln66Glu) c.208C>G (p.Gln70Glu) c.127C>G (p.Gln43Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.2169847G= | CA1948009768 | TH | c.115C= (p.Gln39=) c.91-152C= (n.91-152C=) c.103-152C= (n.103-152C=) c.196C= (p.Gln66=) c.208C= (p.Gln70=) c.127C= (p.Gln43=) | |
11 | g.2169847G>T | CA379112510 | TH | c.115C>A (p.Gln39Lys) c.91-152C>A (n.91-152C>A) c.103-152C>A (n.103-152C>A) c.196C>A (p.Gln66Lys) c.208C>A (p.Gln70Lys) c.127C>A (p.Gln43Lys) | |
11 | g.2169848C>A | CA379112512 | TH | c.114G>T (p.Arg38Ser) c.91-153G>T (n.91-153G>T) c.103-153G>T (n.103-153G>T) c.195G>T (p.Arg65Ser) c.207G>T (p.Arg69Ser) c.126G>T (p.Arg42Ser) | |
11 | g.2169848C= | CA1948009771 | TH | c.114G= (p.Arg38=) c.91-153G= (n.91-153G=) c.103-153G= (n.103-153G=) c.195G= (p.Arg65=) c.207G= (p.Arg69=) c.126G= (p.Arg42=) | |
11 | g.2169848C>G | CA379112513 | TH | c.114G>C (p.Arg38Ser) c.91-153G>C (n.91-153G>C) c.103-153G>C (n.103-153G>C) c.195G>C (p.Arg65Ser) c.207G>C (p.Arg69Ser) c.126G>C (p.Arg42Ser) | |
11 | g.2169848C>T | CA216227801 | TH | c.114G>A (p.Arg38=) c.91-153G>A (n.91-153G>A) c.103-153G>A (n.103-153G>A) c.195G>A (p.Arg65=) c.207G>A (p.Arg69=) c.126G>A (p.Arg42=) | dbSNP |
11 | g.2169849C>A | CA379112514 | TH | c.113G>T (p.Arg38Met) c.91-154G>T (n.91-154G>T) c.103-154G>T (n.103-154G>T) c.194G>T (p.Arg65Met) c.206G>T (p.Arg69Met) c.125G>T (p.Arg42Met) | |
11 | g.2169849C>G | CA379112515 | TH | c.113G>C (p.Arg38Thr) c.91-154G>C (n.91-154G>C) c.103-154G>C (n.103-154G>C) c.194G>C (p.Arg65Thr) c.206G>C (p.Arg69Thr) c.125G>C (p.Arg42Thr) | |
11 | g.2169849C>T | CA379112516 | TH | c.113G>A (p.Arg38Lys) c.91-154G>A (n.91-154G>A) c.103-154G>A (n.103-154G>A) c.194G>A (p.Arg65Lys) c.206G>A (p.Arg69Lys) c.125G>A (p.Arg42Lys) | |
11 | g.2169850T>A | CA379112517 | TH | c.112A>T (p.Arg38Trp) c.91-155A>T (n.91-155A>T) c.103-155A>T (n.103-155A>T) c.193A>T (p.Arg65Trp) c.205A>T (p.Arg69Trp) c.124A>T (p.Arg42Trp) | |
11 | g.2169850T>C | CA379112518 | TH | c.112A>G (p.Arg38Gly) c.91-155A>G (n.91-155A>G) c.103-155A>G (n.103-155A>G) c.193A>G (p.Arg65Gly) c.205A>G (p.Arg69Gly) c.124A>G (p.Arg42Gly) | gnomAD v4 |
11 | g.2169850T>G | CA472018898 | TH | c.112A>C (p.Arg38=) c.91-155A>C (n.91-155A>C) c.103-155A>C (n.103-155A>C) c.193A>C (p.Arg65=) c.205A>C (p.Arg69=) c.124A>C (p.Arg42=) | |
11 | g.2169851G>A | CA472018899 | TH | c.111C>T (p.Arg37=) c.91-156C>T (n.91-156C>T) c.103-156C>T (n.103-156C>T) c.192C>T (p.Arg64=) c.204C>T (p.Arg68=) c.123C>T (p.Arg41=) | ClinVar dbSNP gnomAD v4 |
11 | g.2169851G>C | CA472018901 | TH | c.111C>G (p.Arg37=) c.91-156C>G (n.91-156C>G) c.103-156C>G (n.103-156C>G) c.192C>G (p.Arg64=) c.204C>G (p.Arg68=) c.123C>G (p.Arg41=) | |
11 | g.2169851G>T | CA472018900 | TH | c.111C>A (p.Arg37=) c.91-156C>A (n.91-156C>A) c.103-156C>A (n.103-156C>A) c.192C>A (p.Arg64=) c.204C>A (p.Arg68=) c.123C>A (p.Arg41=) | |
11 | g.2169852C>A | CA379112519 | TH | c.110G>T (p.Arg37Leu) c.91-157G>T (n.91-157G>T) c.103-157G>T (n.103-157G>T) c.191G>T (p.Arg64Leu) c.203G>T (p.Arg68Leu) c.122G>T (p.Arg41Leu) | |
11 | g.2169852C= | CA1948009774 | TH | c.110G= (p.Arg37=) c.91-157G= (n.91-157G=) c.103-157G= (n.103-157G=) c.191G= (p.Arg64=) c.203G= (p.Arg68=) c.122G= (p.Arg41=) | |
11 | g.2169852C>G | CA379112520 | TH | c.110G>C (p.Arg37Pro) c.91-157G>C (n.91-157G>C) c.103-157G>C (n.103-157G>C) c.191G>C (p.Arg64Pro) c.203G>C (p.Arg68Pro) c.122G>C (p.Arg41Pro) | |
11 | g.2169852C>T | CA5818790 | TH | c.110G>A (p.Arg37His) c.91-157G>A (n.91-157G>A) c.103-157G>A (n.103-157G>A) c.191G>A (p.Arg64His) c.203G>A (p.Arg68His) c.122G>A (p.Arg41His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169853G>A | CA5818791 | TH | c.109C>T (p.Arg37Cys) c.91-158C>T (n.91-158C>T) c.103-158C>T (n.103-158C>T) c.190C>T (p.Arg64Cys) c.202C>T (p.Arg68Cys) c.121C>T (p.Arg41Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169853G>C | CA379112521 | TH | c.109C>G (p.Arg37Gly) c.91-158C>G (n.91-158C>G) c.103-158C>G (n.103-158C>G) c.190C>G (p.Arg64Gly) c.202C>G (p.Arg68Gly) c.121C>G (p.Arg41Gly) | |
11 | g.2169853G= | CA1948009777 | TH | c.109C= (p.Arg37=) c.91-158C= (n.91-158C=) c.103-158C= (n.103-158C=) c.190C= (p.Arg64=) c.202C= (p.Arg68=) c.121C= (p.Arg41=) | |
11 | g.2169853G>T | CA379112522 | TH | c.109C>A (p.Arg37Ser) c.91-158C>A (n.91-158C>A) c.103-158C>A (n.103-158C>A) c.190C>A (p.Arg64Ser) c.202C>A (p.Arg68Ser) c.121C>A (p.Arg41Ser) | dbSNP gnomAD v4 |
11 | g.2169854C>A | CA472018902 | TH | c.108G>T (p.Gly36=) c.91-159G>T (n.91-159G>T) c.103-159G>T (n.103-159G>T) c.189G>T (p.Gly63=) c.201G>T (p.Gly67=) c.120G>T (p.Gly40=) | ClinVar dbSNP |
11 | g.2169854C= | CA1948009779 | TH | c.108G= (p.Gly36=) c.91-159G= (n.91-159G=) c.103-159G= (n.103-159G=) c.189G= (p.Gly63=) c.201G= (p.Gly67=) c.120G= (p.Gly40=) | |
11 | g.2169854C>G | CA472018903 | TH | c.108G>C (p.Gly36=) c.91-159G>C (n.91-159G>C) c.103-159G>C (n.103-159G>C) c.189G>C (p.Gly63=) c.201G>C (p.Gly67=) c.120G>C (p.Gly40=) | |
11 | g.2169854C>T | CA5818792 | TH | c.108G>A (p.Gly36=) c.91-159G>A (n.91-159G>A) c.103-159G>A (n.103-159G>A) c.189G>A (p.Gly63=) c.201G>A (p.Gly67=) c.120G>A (p.Gly40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169854_2169880delinsCCCAATGAACCGCGGGGACTGTGGGGA | CA1948009781 | TH | c.91-9_108delinsTCCCCACAGTCCCCGCGGTTCATTGGG c.91-185_91-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG (n.91-185_91-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG) c.103-185_103-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG (n.103-185_103-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG) c.172-9_189delinsTCCCCACAGTCCCCGCGGTTCATTGGG c.184-9_201delinsTCCCCACAGTCCCCGCGGTTCATTGGG c.103-9_120delinsTCCCCACAGTCCCCGCGGTTCATTGGG | |
11 | g.2169855C>A | CA379112524 | TH | c.107G>T (p.Gly36Val) c.91-160G>T (n.91-160G>T) c.103-160G>T (n.103-160G>T) c.188G>T (p.Gly63Val) c.200G>T (p.Gly67Val) c.119G>T (p.Gly40Val) | ClinVar |
11 | g.2169855C= | CA1948009784 | TH | c.107G= (p.Gly36=) c.91-160G= (n.91-160G=) c.103-160G= (n.103-160G=) c.188G= (p.Gly63=) c.200G= (p.Gly67=) c.119G= (p.Gly40=) | |
11 | g.2169855C>G | CA379112523 | TH | c.107G>C (p.Gly36Ala) c.91-160G>C (n.91-160G>C) c.103-160G>C (n.103-160G>C) c.188G>C (p.Gly63Ala) c.200G>C (p.Gly67Ala) c.119G>C (p.Gly40Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169855C>T | CA379112525 | TH | c.107G>A (p.Gly36Glu) c.91-160G>A (n.91-160G>A) c.103-160G>A (n.103-160G>A) c.188G>A (p.Gly63Glu) c.200G>A (p.Gly67Glu) c.119G>A (p.Gly40Glu) | |
11 | g.2169856_2169881del | CA16041467 | TH | c.91-9_107del c.91-185_91-160del (n.91-185_91-160del) c.103-185_103-160del (n.103-185_103-160del) c.172-9_188del c.184-9_200del c.103-9_119del | ClinVar dbSNP |
11 | g.2169856C>A | CA379112526 | TH | c.106G>T (p.Gly36Trp) c.91-161G>T (n.91-161G>T) c.103-161G>T (n.103-161G>T) c.187G>T (p.Gly63Trp) c.199G>T (p.Gly67Trp) c.118G>T (p.Gly40Trp) | |
11 | g.2169856C= | CA1948009787 | TH | c.106G= (p.Gly36=) c.91-161G= (n.91-161G=) c.103-161G= (n.103-161G=) c.187G= (p.Gly63=) c.199G= (p.Gly67=) c.118G= (p.Gly40=) | |
11 | g.2169856C>G | CA379112527 | TH | c.106G>C (p.Gly36Arg) c.91-161G>C (n.91-161G>C) c.103-161G>C (n.103-161G>C) c.187G>C (p.Gly63Arg) c.199G>C (p.Gly67Arg) c.118G>C (p.Gly40Arg) | |
11 | g.2169856C>T | CA379112528 | TH | c.106G>A (p.Gly36Arg) c.91-161G>A (n.91-161G>A) c.103-161G>A (n.103-161G>A) c.187G>A (p.Gly63Arg) c.199G>A (p.Gly67Arg) c.118G>A (p.Gly40Arg) | dbSNP gnomAD v2 |
11 | g.2169857A>C | CA379112529 | TH | c.105T>G (p.Ile35Met) c.91-162T>G (n.91-162T>G) c.103-162T>G (n.103-162T>G) c.186T>G (p.Ile62Met) c.198T>G (p.Ile66Met) c.117T>G (p.Ile39Met) | gnomAD v4 |
11 | g.2169857A>G | CA472018904 | TH | c.105T>C (p.Ile35=) c.91-162T>C (n.91-162T>C) c.103-162T>C (n.103-162T>C) c.186T>C (p.Ile62=) c.198T>C (p.Ile66=) c.117T>C (p.Ile39=) | |
11 | g.2169857A>T | CA472018905 | TH | c.105T>A (p.Ile35=) c.91-162T>A (n.91-162T>A) c.103-162T>A (n.103-162T>A) c.186T>A (p.Ile62=) c.198T>A (p.Ile66=) c.117T>A (p.Ile39=) | |
11 | g.2169858A= | CA1948009790 | TH | c.104T= (p.Ile35=) c.91-163T= (n.91-163T=) c.103-163T= (n.103-163T=) c.185T= (p.Ile62=) c.197T= (p.Ile66=) c.116T= (p.Ile39=) | |
11 | g.2169858A>C | CA379112530 | TH | c.104T>G (p.Ile35Ser) c.91-163T>G (n.91-163T>G) c.103-163T>G (n.103-163T>G) c.185T>G (p.Ile62Ser) c.197T>G (p.Ile66Ser) c.116T>G (p.Ile39Ser) | |
11 | g.2169858A>G | CA5818793 | TH | c.104T>C (p.Ile35Thr) c.91-163T>C (n.91-163T>C) c.103-163T>C (n.103-163T>C) c.185T>C (p.Ile62Thr) c.197T>C (p.Ile66Thr) c.116T>C (p.Ile39Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169858A>T | CA379112531 | TH | c.104T>A (p.Ile35Asn) c.91-163T>A (n.91-163T>A) c.103-163T>A (n.103-163T>A) c.185T>A (p.Ile62Asn) c.197T>A (p.Ile66Asn) c.116T>A (p.Ile39Asn) | |
11 | g.2169858_2169859delinsAT | CA1948009789 | TH | c.103_104delinsAT (p.Ile35=) c.91-164_91-163delinsAT (n.91-164_91-163delinsAT) c.103-164_103-163delinsAT (n.103-164_103-163delinsAT) c.184_185delinsAT (p.Ile62=) c.196_197delinsAT (p.Ile66=) c.115_116delinsAT (p.Ile39=) | |
11 | g.2169859del | CA1948009793 | TH | c.103del (p.Ile35LeufsTer?) c.91-164del (n.91-164del) c.103-164del (n.103-164del) c.184del (p.Ile62LeufsTer?) c.196del (p.Ile66LeufsTer?) c.115del (p.Ile39LeufsTer?) | dbSNP |
11 | g.2169859T>A | CA379112532 | TH | c.103A>T (p.Ile35Phe) c.91-164A>T (n.91-164A>T) c.103-164A>T (n.103-164A>T) c.184A>T (p.Ile62Phe) c.196A>T (p.Ile66Phe) c.115A>T (p.Ile39Phe) | |
11 | g.2169859T>C | CA379112533 | TH | c.103A>G (p.Ile35Val) c.91-164A>G (n.91-164A>G) c.103-164A>G (n.103-164A>G) c.184A>G (p.Ile62Val) c.196A>G (p.Ile66Val) c.115A>G (p.Ile39Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169859T>G | CA379112534 | TH | c.103A>C (p.Ile35Leu) c.91-164A>C (n.91-164A>C) c.103-164A>C (n.103-164A>C) c.184A>C (p.Ile62Leu) c.196A>C (p.Ile66Leu) c.115A>C (p.Ile39Leu) | dbSNP gnomAD v4 |
11 | g.2169859T= | CA1948009794 | TH | c.103A= (p.Ile35=) c.91-164A= (n.91-164A=) c.103-164A= (n.103-164A=) c.184A= (p.Ile62=) c.196A= (p.Ile66=) c.115A= (p.Ile39=) | |
11 | g.2169860G>A | CA472018906 | TH | c.102C>T (p.Phe34=) c.91-165C>T (n.91-165C>T) c.103-165C>T (n.103-165C>T) c.183C>T (p.Phe61=) c.195C>T (p.Phe65=) c.114C>T (p.Phe38=) | gnomAD v4 |
11 | g.2169860G>C | CA379112535 | TH | c.102C>G (p.Phe34Leu) c.91-165C>G (n.91-165C>G) c.103-165C>G (n.103-165C>G) c.183C>G (p.Phe61Leu) c.195C>G (p.Phe65Leu) c.114C>G (p.Phe38Leu) | |
11 | g.2169860G>T | CA379112536 | TH | c.102C>A (p.Phe34Leu) c.91-165C>A (n.91-165C>A) c.103-165C>A (n.103-165C>A) c.183C>A (p.Phe61Leu) c.195C>A (p.Phe65Leu) c.114C>A (p.Phe38Leu) | |
11 | g.2169861A= | CA1948009796 | TH | c.101T= (p.Phe34=) c.91-166T= (n.91-166T=) c.103-166T= (n.103-166T=) c.182T= (p.Phe61=) c.194T= (p.Phe65=) c.113T= (p.Phe38=) | |
11 | g.2169861A>C | CA379112537 | TH | c.101T>G (p.Phe34Cys) c.91-166T>G (n.91-166T>G) c.103-166T>G (n.103-166T>G) c.182T>G (p.Phe61Cys) c.194T>G (p.Phe65Cys) c.113T>G (p.Phe38Cys) | |
11 | g.2169861A>G | CA5818794 | TH | c.101T>C (p.Phe34Ser) c.91-166T>C (n.91-166T>C) c.103-166T>C (n.103-166T>C) c.182T>C (p.Phe61Ser) c.194T>C (p.Phe65Ser) c.113T>C (p.Phe38Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2169861A>T | CA379112538 | TH | c.101T>A (p.Phe34Tyr) c.91-166T>A (n.91-166T>A) c.103-166T>A (n.103-166T>A) c.182T>A (p.Phe61Tyr) c.194T>A (p.Phe65Tyr) c.113T>A (p.Phe38Tyr) | |
11 | g.2169862A>C | CA379112539 | TH | c.100T>G (p.Phe34Val) c.91-167T>G (n.91-167T>G) c.103-167T>G (n.103-167T>G) c.181T>G (p.Phe61Val) c.193T>G (p.Phe65Val) c.112T>G (p.Phe38Val) | |
11 | g.2169862A>G | CA379112540 | TH | c.100T>C (p.Phe34Leu) c.91-167T>C (n.91-167T>C) c.103-167T>C (n.103-167T>C) c.181T>C (p.Phe61Leu) c.193T>C (p.Phe65Leu) c.112T>C (p.Phe38Leu) | gnomAD v4 |
11 | g.2169862A>T | CA379112541 | TH | c.100T>A (p.Phe34Ile) c.91-167T>A (n.91-167T>A) c.103-167T>A (n.103-167T>A) c.181T>A (p.Phe61Ile) c.193T>A (p.Phe65Ile) c.112T>A (p.Phe38Ile) | |
11 | g.2169863C>A | CA472018909 | TH | c.99G>T (p.Arg33=) c.91-168G>T (n.91-168G>T) c.103-168G>T (n.103-168G>T) c.180G>T (p.Arg60=) c.192G>T (p.Arg64=) c.111G>T (p.Arg37=) | |
11 | g.2169863C>G | CA472018907 | TH | c.99G>C (p.Arg33=) c.91-168G>C (n.91-168G>C) c.103-168G>C (n.103-168G>C) c.180G>C (p.Arg60=) c.192G>C (p.Arg64=) c.111G>C (p.Arg37=) | |
11 | g.2169863C>T | CA472018908 | TH | c.99G>A (p.Arg33=) c.91-168G>A (n.91-168G>A) c.103-168G>A (n.103-168G>A) c.180G>A (p.Arg60=) c.192G>A (p.Arg64=) c.111G>A (p.Arg37=) | |
11 | g.2169864C>A | CA379112542 | TH | c.98G>T (p.Arg33Leu) c.91-169G>T (n.91-169G>T) c.103-169G>T (n.103-169G>T) c.179G>T (p.Arg60Leu) c.191G>T (p.Arg64Leu) c.110G>T (p.Arg37Leu) | |
11 | g.2169864C= | CA1948009799 | TH | c.98G= (p.Arg33=) c.91-169G= (n.91-169G=) c.103-169G= (n.103-169G=) c.179G= (p.Arg60=) c.191G= (p.Arg64=) c.110G= (p.Arg37=) | |
11 | g.2169864C>G | CA379112543 | TH | c.98G>C (p.Arg33Pro) c.91-169G>C (n.91-169G>C) c.103-169G>C (n.103-169G>C) c.179G>C (p.Arg60Pro) c.191G>C (p.Arg64Pro) c.110G>C (p.Arg37Pro) | |
11 | g.2169864C>T | CA216227842 | TH | c.98G>A (p.Arg33Gln) c.91-169G>A (n.91-169G>A) c.103-169G>A (n.103-169G>A) c.179G>A (p.Arg60Gln) c.191G>A (p.Arg64Gln) c.110G>A (p.Arg37Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2169865G>A | CA216227846 | TH | c.97C>T (p.Arg33Trp) c.91-170C>T (n.91-170C>T) c.103-170C>T (n.103-170C>T) c.178C>T (p.Arg60Trp) c.190C>T (p.Arg64Trp) c.109C>T (p.Arg37Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169865G>C | CA379112544 | TH | c.97C>G (p.Arg33Gly) c.91-170C>G (n.91-170C>G) c.103-170C>G (n.103-170C>G) c.178C>G (p.Arg60Gly) c.190C>G (p.Arg64Gly) c.109C>G (p.Arg37Gly) | |
11 | g.2169865G= | CA1948009801 | TH | c.97C= (p.Arg33=) c.91-170C= (n.91-170C=) c.103-170C= (n.103-170C=) c.178C= (p.Arg60=) c.190C= (p.Arg64=) c.109C= (p.Arg37=) | |
11 | g.2169865G>T | CA472018910 | TH | c.97C>A (p.Arg33=) c.91-170C>A (n.91-170C>A) c.103-170C>A (n.103-170C>A) c.178C>A (p.Arg60=) c.190C>A (p.Arg64=) c.109C>A (p.Arg37=) | |
11 | g.2169866C>A | CA472018911 | TH | c.96G>T (p.Pro32=) c.91-171G>T (n.91-171G>T) c.103-171G>T (n.103-171G>T) c.177G>T (p.Pro59=) c.189G>T (p.Pro63=) c.108G>T (p.Pro36=) | |
11 | g.2169866C= | CA1948009805 | TH | c.96G= (p.Pro32=) c.91-171G= (n.91-171G=) c.103-171G= (n.103-171G=) c.177G= (p.Pro59=) c.189G= (p.Pro63=) c.108G= (p.Pro36=) | |
11 | g.2169866C>G | CA472018912 | TH | c.96G>C (p.Pro32=) c.91-171G>C (n.91-171G>C) c.103-171G>C (n.103-171G>C) c.177G>C (p.Pro59=) c.189G>C (p.Pro63=) c.108G>C (p.Pro36=) | ClinVar dbSNP |
11 | g.2169866C>T | CA5818795 | TH | c.96G>A (p.Pro32=) c.91-171G>A (n.91-171G>A) c.103-171G>A (n.103-171G>A) c.177G>A (p.Pro59=) c.189G>A (p.Pro63=) c.108G>A (p.Pro36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169867G>A | CA5818796 | TH | c.95C>T (p.Pro32Leu) c.91-172C>T (n.91-172C>T) c.103-172C>T (n.103-172C>T) c.176C>T (p.Pro59Leu) c.188C>T (p.Pro63Leu) c.107C>T (p.Pro36Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169867G>C | CA379112546 | TH | c.95C>G (p.Pro32Arg) c.91-172C>G (n.91-172C>G) c.103-172C>G (n.103-172C>G) c.176C>G (p.Pro59Arg) c.188C>G (p.Pro63Arg) c.107C>G (p.Pro36Arg) | |
11 | g.2169867G= | CA1948009807 | TH | c.95C= (p.Pro32=) c.91-172C= (n.91-172C=) c.103-172C= (n.103-172C=) c.176C= (p.Pro59=) c.188C= (p.Pro63=) c.107C= (p.Pro36=) | |
11 | g.2169867G>T | CA379112545 | TH | c.95C>A (p.Pro32Gln) c.91-172C>A (n.91-172C>A) c.103-172C>A (n.103-172C>A) c.176C>A (p.Pro59Gln) c.188C>A (p.Pro63Gln) c.107C>A (p.Pro36Gln) | gnomAD v4 |
11 | g.2169870del | CA2611980256 | TH | c.95del (p.Pro32ArgfsTer?) c.91-172del (n.91-172del) c.103-172del (n.103-172del) c.176del (p.Pro59ArgfsTer?) c.188del (p.Pro63ArgfsTer?) c.107del (p.Pro36ArgfsTer?) | gnomAD v4 |
11 | g.2169868G>A | CA379112547 | TH | c.94C>T (p.Pro32Ser) c.91-173C>T (n.91-173C>T) c.103-173C>T (n.103-173C>T) c.175C>T (p.Pro59Ser) c.187C>T (p.Pro63Ser) c.106C>T (p.Pro36Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.2169868G>C | CA379112548 | TH | c.94C>G (p.Pro32Ala) c.91-173C>G (n.91-173C>G) c.103-173C>G (n.103-173C>G) c.175C>G (p.Pro59Ala) c.187C>G (p.Pro63Ala) c.106C>G (p.Pro36Ala) | |
11 | g.2169868G= | CA1948009809 | TH | c.94C= (p.Pro32=) c.91-173C= (n.91-173C=) c.103-173C= (n.103-173C=) c.175C= (p.Pro59=) c.187C= (p.Pro63=) c.106C= (p.Pro36=) | |
11 | g.2169868G>T | CA379112549 | TH | c.94C>A (p.Pro32Thr) c.91-173C>A (n.91-173C>A) c.103-173C>A (n.103-173C>A) c.175C>A (p.Pro59Thr) c.187C>A (p.Pro63Thr) c.106C>A (p.Pro36Thr) | COSMIC |
11 | g.2169869G>A | CA472018913 | TH | c.93C>T (p.Ser31=) c.91-174C>T (n.91-174C>T) c.103-174C>T (n.103-174C>T) c.174C>T (p.Ser58=) c.186C>T (p.Ser62=) c.105C>T (p.Ser35=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169869G>C | CA472018914 | TH | c.93C>G (p.Ser31=) c.91-174C>G (n.91-174C>G) c.103-174C>G (n.103-174C>G) c.174C>G (p.Ser58=) c.186C>G (p.Ser62=) c.105C>G (p.Ser35=) | |
11 | g.2169869G= | CA1948009811 | TH | c.93C= (p.Ser31=) c.91-174C= (n.91-174C=) c.103-174C= (n.103-174C=) c.174C= (p.Ser58=) c.186C= (p.Ser62=) c.105C= (p.Ser35=) | |
11 | g.2169869G>T | CA472018915 | TH | c.93C>A (p.Ser31=) c.91-174C>A (n.91-174C>A) c.103-174C>A (n.103-174C>A) c.174C>A (p.Ser58=) c.186C>A (p.Ser62=) c.105C>A (p.Ser35=) | |
11 | g.2169870G>A | CA216227852 | TH | c.92C>T (p.Ser31Phe) c.91-175C>T (n.91-175C>T) c.103-175C>T (n.103-175C>T) c.173C>T (p.Ser58Phe) c.185C>T (p.Ser62Phe) c.104C>T (p.Ser35Phe) | dbSNP |
11 | g.2169870G>C | CA379112550 | TH | c.92C>G (p.Ser31Cys) c.91-175C>G (n.91-175C>G) c.103-175C>G (n.103-175C>G) c.173C>G (p.Ser58Cys) c.185C>G (p.Ser62Cys) c.104C>G (p.Ser35Cys) | |
11 | g.2169870G= | CA1948009813 | TH | c.92C= (p.Ser31=) c.91-175C= (n.91-175C=) c.103-175C= (n.103-175C=) c.173C= (p.Ser58=) c.185C= (p.Ser62=) c.104C= (p.Ser35=) | |
11 | g.2169870G>T | CA379112551 | TH | c.92C>A (p.Ser31Tyr) c.91-175C>A (n.91-175C>A) c.103-175C>A (n.103-175C>A) c.173C>A (p.Ser58Tyr) c.185C>A (p.Ser62Tyr) c.104C>A (p.Ser35Tyr) | |
11 | g.2169871A>C | CA379112552 | TH | c.91T>G (p.Ser31Ala) c.91-176T>G (n.91-176T>G) c.103-176T>G (n.103-176T>G) c.172T>G (p.Ser58Ala) c.184T>G (p.Ser62Ala) c.103T>G (p.Ser35Ala) | |
11 | g.2169871A>G | CA379112553 | TH | c.91T>C (p.Ser31Pro) c.91-176T>C (n.91-176T>C) c.103-176T>C (n.103-176T>C) c.172T>C (p.Ser58Pro) c.184T>C (p.Ser62Pro) c.103T>C (p.Ser35Pro) | |
11 | g.2169871A>T | CA379112554 | TH | c.91T>A (p.Ser31Thr) c.91-176T>A (n.91-176T>A) c.103-176T>A (n.103-176T>A) c.172T>A (p.Ser58Thr) c.184T>A (p.Ser62Thr) c.103T>A (p.Ser35Thr) | |
11 | g.2169872C>A | CA379112555 | TH | c.91-1G>T (n.91-1G>T) c.91-177G>T (n.91-177G>T) c.103-177G>T (n.103-177G>T) c.172-1G>T (n.172-1G>T) c.184-1G>T (n.184-1G>T) c.103-1G>T (n.103-1G>T) | |
11 | g.2169872C>G | CA379112556 | TH | c.91-1G>C (n.91-1G>C) c.91-177G>C (n.91-177G>C) c.103-177G>C (n.103-177G>C) c.172-1G>C (n.172-1G>C) c.184-1G>C (n.184-1G>C) c.103-1G>C (n.103-1G>C) | |
11 | g.2169872C>T | CA379112557 | TH | c.91-1G>A (n.91-1G>A) c.91-177G>A (n.91-177G>A) c.103-177G>A (n.103-177G>A) c.172-1G>A (n.172-1G>A) c.184-1G>A (n.184-1G>A) c.103-1G>A (n.103-1G>A) | gnomAD v4 |
11 | g.2169873T>A | CA379112559 | TH | c.91-2A>T (n.91-2A>T) c.91-178A>T (n.91-178A>T) c.103-178A>T (n.103-178A>T) c.172-2A>T (n.172-2A>T) c.184-2A>T (n.184-2A>T) c.103-2A>T (n.103-2A>T) | |
11 | g.2169873T>C | CA379112560 | TH | c.91-2A>G (n.91-2A>G) c.91-178A>G (n.91-178A>G) c.103-178A>G (n.103-178A>G) c.172-2A>G (n.172-2A>G) c.184-2A>G (n.184-2A>G) c.103-2A>G (n.103-2A>G) | |
11 | g.2169873T>G | CA379112558 | TH | c.91-2A>C (n.91-2A>C) c.91-178A>C (n.91-178A>C) c.103-178A>C (n.103-178A>C) c.172-2A>C (n.172-2A>C) c.184-2A>C (n.184-2A>C) c.103-2A>C (n.103-2A>C) |