Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47441619G>A | CA474217990 | RAPSN | c.904C>T (p.Leu302=) c.789+204C>T (n.789+204C>T) c.745C>T (p.Leu249=) n.113C>T | gnomAD v4 |
11 | g.47441619G>C | CA380328863 | RAPSN | c.904C>G (p.Leu302Val) c.789+204C>G (n.789+204C>G) c.745C>G (p.Leu249Val) n.113C>G | |
11 | g.47441619G= | CA1969387554 | RAPSN | c.904C= (p.Leu302=) c.789+204C= (n.789+204C=) c.745C= (p.Leu249=) n.113C= | |
11 | g.47441619G>T | CA380328865 | RAPSN | c.904C>A (p.Leu302Met) c.789+204C>A (n.789+204C>A) c.745C>A (p.Leu249Met) n.113C>A | dbSNP gnomAD v4 |
11 | g.47441620C>A | CA474217991 | RAPSN | c.903G>T (p.Ala301=) c.789+203G>T (n.789+203G>T) c.744G>T (p.Ala248=) n.112G>T | ClinVar gnomAD v4 |
11 | g.47441620C= | CA1969387555 | RAPSN | c.903G= (p.Ala301=) c.789+203G= (n.789+203G=) c.744G= (p.Ala248=) n.112G= | |
11 | g.47441620C>G | CA474217992 | RAPSN | c.903G>C (p.Ala301=) c.789+203G>C (n.789+203G>C) c.744G>C (p.Ala248=) n.112G>C | |
11 | g.47441620C>T | CA5976594 | RAPSN | c.903G>A (p.Ala301=) c.789+203G>A (n.789+203G>A) c.744G>A (p.Ala248=) n.112G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441621G>A | CA5976595 | RAPSN | c.902C>T (p.Ala301Val) c.789+202C>T (n.789+202C>T) c.743C>T (p.Ala248Val) n.111C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441621G>C | CA380328869 | RAPSN | c.902C>G (p.Ala301Gly) c.789+202C>G (n.789+202C>G) c.743C>G (p.Ala248Gly) n.111C>G | |
11 | g.47441621G= | CA1969387556 | RAPSN | c.902C= (p.Ala301=) c.789+202C= (n.789+202C=) c.743C= (p.Ala248=) n.111C= | |
11 | g.47441621G>T | CA380328870 | RAPSN | c.902C>A (p.Ala301Glu) c.789+202C>A (n.789+202C>A) c.743C>A (p.Ala248Glu) n.111C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441622C>A | CA380328872 | RAPSN | c.901G>T (p.Ala301Ser) c.789+201G>T (n.789+201G>T) c.742G>T (p.Ala248Ser) n.110G>T | gnomAD v4 |
11 | g.47441622C= | CA1969387557 | RAPSN | c.901G= (p.Ala301=) c.789+201G= (n.789+201G=) c.742G= (p.Ala248=) n.110G= | |
11 | g.47441622C>G | CA380328874 | RAPSN | c.901G>C (p.Ala301Pro) c.789+201G>C (n.789+201G>C) c.742G>C (p.Ala248Pro) n.110G>C | |
11 | g.47441622C>T | CA380328879 | RAPSN | c.901G>A (p.Ala301Thr) c.789+201G>A (n.789+201G>A) c.742G>A (p.Ala248Thr) n.110G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441623C>A | CA380328880 | RAPSN | c.900G>T (p.Lys300Asn) c.789+200G>T (n.789+200G>T) c.741G>T (p.Lys247Asn) n.109G>T | gnomAD v4 |
11 | g.47441623C>G | CA380328881 | RAPSN | c.900G>C (p.Lys300Asn) c.789+200G>C (n.789+200G>C) c.741G>C (p.Lys247Asn) n.109G>C | |
11 | g.47441623C>T | CA474217993 | RAPSN | c.900G>A (p.Lys300=) c.789+200G>A (n.789+200G>A) c.741G>A (p.Lys247=) n.109G>A | gnomAD v4 |
11 | g.47441624T>A | CA380328887 | RAPSN | c.899A>T (p.Lys300Met) c.789+199A>T (n.789+199A>T) c.740A>T (p.Lys247Met) n.108A>T | |
11 | g.47441624T>C | CA380328883 | RAPSN | c.899A>G (p.Lys300Arg) c.789+199A>G (n.789+199A>G) c.740A>G (p.Lys247Arg) n.108A>G | dbSNP |
11 | g.47441624T>G | CA380328885 | RAPSN | c.899A>C (p.Lys300Thr) c.789+199A>C (n.789+199A>C) c.740A>C (p.Lys247Thr) n.108A>C | gnomAD v4 |
11 | g.47441624T= | CA1969387558 | RAPSN | c.899A= (p.Lys300=) c.789+199A= (n.789+199A=) c.740A= (p.Lys247=) n.108A= | |
11 | g.47441625T>A | CA380328891 | RAPSN | c.898A>T (p.Lys300Ter) c.789+198A>T (n.789+198A>T) c.739A>T (p.Lys247Ter) n.107A>T | |
11 | g.47441625T>C | CA380328893 | RAPSN | c.898A>G (p.Lys300Glu) c.789+198A>G (n.789+198A>G) c.739A>G (p.Lys247Glu) n.107A>G | |
11 | g.47441625T>G | CA380328896 | RAPSN | c.898A>C (p.Lys300Gln) c.789+198A>C (n.789+198A>C) c.739A>C (p.Lys247Gln) n.107A>C | |
11 | g.47441626C>A | CA380328898 | RAPSN | c.897G>T (p.Arg299Ser) c.789+197G>T (n.789+197G>T) c.738G>T (p.Arg246Ser) n.106G>T | gnomAD v4 |
11 | g.47441626C= | CA1969387559 | RAPSN | c.897G= (p.Arg299=) c.789+197G= (n.789+197G=) c.738G= (p.Arg246=) n.106G= | |
11 | g.47441626C>G | CA380328902 | RAPSN | c.897G>C (p.Arg299Ser) c.789+197G>C (n.789+197G>C) c.738G>C (p.Arg246Ser) n.106G>C | |
11 | g.47441626C>T | CA474217994 | RAPSN | c.897G>A (p.Arg299=) c.789+197G>A (n.789+197G>A) c.738G>A (p.Arg246=) n.106G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441627C>A | CA380328905 | RAPSN | c.896G>T (p.Arg299Met) c.789+196G>T (n.789+196G>T) c.737G>T (p.Arg246Met) n.105G>T | |
11 | g.47441627C>G | CA380328907 | RAPSN | c.896G>C (p.Arg299Thr) c.789+196G>C (n.789+196G>C) c.737G>C (p.Arg246Thr) n.105G>C | |
11 | g.47441627C>T | CA380328910 | RAPSN | c.896G>A (p.Arg299Lys) c.789+196G>A (n.789+196G>A) c.737G>A (p.Arg246Lys) n.105G>A | |
11 | g.47441628T>A | CA380328917 | RAPSN | c.895A>T (p.Arg299Trp) c.789+195A>T (n.789+195A>T) c.736A>T (p.Arg246Trp) n.104A>T | |
11 | g.47441628T>C | CA380328918 | RAPSN | c.895A>G (p.Arg299Gly) c.789+195A>G (n.789+195A>G) c.736A>G (p.Arg246Gly) n.104A>G | dbSNP |
11 | g.47441628T>G | CA474217995 | RAPSN | c.895A>C (p.Arg299=) c.789+195A>C (n.789+195A>C) c.736A>C (p.Arg246=) n.104A>C | |
11 | g.47441628T= | CA1969387560 | RAPSN | c.895A= (p.Arg299=) c.789+195A= (n.789+195A=) c.736A= (p.Arg246=) n.104A= | |
11 | g.47441629G>A | CA474217996 | RAPSN | c.894C>T (p.Ala298=) c.789+194C>T (n.789+194C>T) c.735C>T (p.Ala245=) n.103C>T | ClinVar gnomAD v4 |
11 | g.47441629G>C | CA474217997 | RAPSN | c.894C>G (p.Ala298=) c.789+194C>G (n.789+194C>G) c.735C>G (p.Ala245=) n.103C>G | |
11 | g.47441629G>T | CA474217998 | RAPSN | c.894C>A (p.Ala298=) c.789+194C>A (n.789+194C>A) c.735C>A (p.Ala245=) n.103C>A | gnomAD v4 |
11 | g.47441630del | CA2613411416 | RAPSN | c.894del (p.Arg299GlyfsTer25) c.789+194del (n.789+194del) c.735del (p.Arg246GlyfsTer25) n.103del c.894del (p.Arg299GlyfsTer7) c.894del (p.Arg299GlyfsTer16) c.894del (p.Arg299GlyfsTer?) | gnomAD v4 |
11 | g.47441630G>A | CA380328921 | RAPSN | c.893C>T (p.Ala298Val) c.789+193C>T (n.789+193C>T) c.734C>T (p.Ala245Val) n.102C>T | gnomAD v4 |
11 | g.47441630G>C | CA380328922 | RAPSN | c.893C>G (p.Ala298Gly) c.789+193C>G (n.789+193C>G) c.734C>G (p.Ala245Gly) n.102C>G | |
11 | g.47441630G>T | CA380328924 | RAPSN | c.893C>A (p.Ala298Asp) c.789+193C>A (n.789+193C>A) c.734C>A (p.Ala245Asp) n.102C>A | gnomAD v4 |
11 | g.47441631C>A | CA380328938 | RAPSN | c.892G>T (p.Ala298Ser) c.789+192G>T (n.789+192G>T) c.733G>T (p.Ala245Ser) n.101G>T | gnomAD v4 |
11 | g.47441631C>G | CA380328928 | RAPSN | c.892G>C (p.Ala298Pro) c.789+192G>C (n.789+192G>C) c.733G>C (p.Ala245Pro) n.101G>C | |
11 | g.47441631C>T | CA380328935 | RAPSN | c.892G>A (p.Ala298Thr) c.789+192G>A (n.789+192G>A) c.733G>A (p.Ala245Thr) n.101G>A | gnomAD v4 |
11 | g.47441632del | CA2613411425 | RAPSN | c.892del (p.Ala298ProfsTer26) c.789+192del (n.789+192del) c.733del (p.Ala245ProfsTer26) n.101del c.892del (p.Ala298ProfsTer8) c.892del (p.Ala298ProfsTer17) c.892del (p.Ala298ProfsTer?) | gnomAD v4 |
11 | g.47441632C>A | CA474217999 | RAPSN | c.891G>T (p.Val297=) c.789+191G>T (n.789+191G>T) c.732G>T (p.Val244=) n.100G>T | |
11 | g.47441632C= | CA1969387561 | RAPSN | c.891G= (p.Val297=) c.789+191G= (n.789+191G=) c.732G= (p.Val244=) n.100G= | |
11 | g.47441632C>G | CA474218000 | RAPSN | c.891G>C (p.Val297=) c.789+191G>C (n.789+191G>C) c.732G>C (p.Val244=) n.100G>C | |
11 | g.47441632C>T | CA221716147 | RAPSN | c.891G>A (p.Val297=) c.789+191G>A (n.789+191G>A) c.732G>A (p.Val244=) n.100G>A | dbSNP |
11 | g.47441633A= | CA1969387562 | RAPSN | c.890T= (p.Val297=) c.789+190T= (n.789+190T=) c.731T= (p.Val244=) n.99T= | |
11 | g.47441633A>C | CA380328944 | RAPSN | c.890T>G (p.Val297Gly) c.789+190T>G (n.789+190T>G) c.731T>G (p.Val244Gly) n.99T>G | dbSNP |
11 | g.47441633A>G | CA380328956 | RAPSN | c.890T>C (p.Val297Ala) c.789+190T>C (n.789+190T>C) c.731T>C (p.Val244Ala) n.99T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441633A>T | CA380328965 | RAPSN | c.890T>A (p.Val297Glu) c.789+190T>A (n.789+190T>A) c.731T>A (p.Val244Glu) n.99T>A | |
11 | g.47441634C>A | CA380328969 | RAPSN | c.889G>T (p.Val297Leu) c.789+189G>T (n.789+189G>T) c.730G>T (p.Val244Leu) n.98G>T | |
11 | g.47441634C= | CA1969387563 | RAPSN | c.889G= (p.Val297=) c.789+189G= (n.789+189G=) c.730G= (p.Val244=) n.98G= | |
11 | g.47441634C>G | CA380328977 | RAPSN | c.889G>C (p.Val297Leu) c.789+189G>C (n.789+189G>C) c.730G>C (p.Val244Leu) n.98G>C | |
11 | g.47441634C>T | CA5976596 | RAPSN | c.889G>A (p.Val297Met) c.789+189G>A (n.789+189G>A) c.730G>A (p.Val244Met) n.98G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441635C>A | CA380328983 | RAPSN | c.888G>T (p.Trp296Cys) c.789+188G>T (n.789+188G>T) c.729G>T (p.Trp243Cys) n.97G>T | gnomAD v4 |
11 | g.47441635C>G | CA380328985 | RAPSN | c.888G>C (p.Trp296Cys) c.789+188G>C (n.789+188G>C) c.729G>C (p.Trp243Cys) n.97G>C | |
11 | g.47441635C>T | CA380328989 | RAPSN | c.888G>A (p.Trp296Ter) c.789+188G>A (n.789+188G>A) c.729G>A (p.Trp243Ter) n.97G>A | ClinVar gnomAD v4 |
11 | g.47441636C>A | CA380328992 | RAPSN | c.887G>T (p.Trp296Leu) c.789+187G>T (n.789+187G>T) c.728G>T (p.Trp243Leu) n.96G>T | |
11 | g.47441636C= | CA1969387564 | RAPSN | c.887G= (p.Trp296=) c.789+187G= (n.789+187G=) c.728G= (p.Trp243=) n.96G= | |
11 | g.47441636C>G | CA380328995 | RAPSN | c.887G>C (p.Trp296Ser) c.789+187G>C (n.789+187G>C) c.728G>C (p.Trp243Ser) n.96G>C | |
11 | g.47441636C>T | CA221716192 | RAPSN | c.887G>A (p.Trp296Ter) c.789+187G>A (n.789+187G>A) c.728G>A (p.Trp243Ter) n.96G>A | dbSNP |
11 | g.47441637A>C | CA380329006 | RAPSN | c.886T>G (p.Trp296Gly) c.789+186T>G (n.789+186T>G) c.727T>G (p.Trp243Gly) n.95T>G | |
11 | g.47441637A>G | CA380329004 | RAPSN | c.886T>C (p.Trp296Arg) c.789+186T>C (n.789+186T>C) c.727T>C (p.Trp243Arg) n.95T>C | |
11 | g.47441637A>T | CA380329001 | RAPSN | c.886T>A (p.Trp296Arg) c.789+186T>A (n.789+186T>A) c.727T>A (p.Trp243Arg) n.95T>A | |
11 | g.47441638G>A | CA474218001 | RAPSN | c.885C>T (p.Cys295=) c.789+185C>T (n.789+185C>T) c.726C>T (p.Cys242=) n.94C>T | |
11 | g.47441638G>C | CA380329011 | RAPSN | c.885C>G (p.Cys295Trp) c.789+185C>G (n.789+185C>G) c.726C>G (p.Cys242Trp) n.94C>G | gnomAD v4 |
11 | g.47441638G>T | CA380329013 | RAPSN | c.885C>A (p.Cys295Ter) c.789+185C>A (n.789+185C>A) c.726C>A (p.Cys242Ter) n.94C>A | ClinVar gnomAD v4 |
11 | g.47441639C>A | CA380329016 | RAPSN | c.884G>T (p.Cys295Phe) c.789+184G>T (n.789+184G>T) c.725G>T (p.Cys242Phe) n.93G>T | gnomAD v4 |
11 | g.47441639C>G | CA380329017 | RAPSN | c.884G>C (p.Cys295Ser) c.789+184G>C (n.789+184G>C) c.725G>C (p.Cys242Ser) n.93G>C | |
11 | g.47441639C>T | CA380329020 | RAPSN | c.884G>A (p.Cys295Tyr) c.789+184G>A (n.789+184G>A) c.725G>A (p.Cys242Tyr) n.93G>A | gnomAD v4 |
11 | g.47441640A= | CA1969387565 | RAPSN | c.883T= (p.Cys295=) c.789+183T= (n.789+183T=) c.724T= (p.Cys242=) n.92T= | |
11 | g.47441640A>C | CA380329025 | RAPSN | c.883T>G (p.Cys295Gly) c.789+183T>G (n.789+183T>G) c.724T>G (p.Cys242Gly) n.92T>G | dbSNP |
11 | g.47441640A>G | CA380329027 | RAPSN | c.883T>C (p.Cys295Arg) c.789+183T>C (n.789+183T>C) c.724T>C (p.Cys242Arg) n.92T>C | |
11 | g.47441640A>T | CA380329030 | RAPSN | c.883T>A (p.Cys295Ser) c.789+183T>A (n.789+183T>A) c.724T>A (p.Cys242Ser) n.92T>A | |
11 | g.47441641C>A | CA380329041 | RAPSN | c.882G>T (p.Lys294Asn) c.789+182G>T (n.789+182G>T) c.723G>T (p.Lys241Asn) n.91G>T | |
11 | g.47441641C>G | CA380329044 | RAPSN | c.882G>C (p.Lys294Asn) c.789+182G>C (n.789+182G>C) c.723G>C (p.Lys241Asn) n.91G>C | |
11 | g.47441641C>T | CA474218002 | RAPSN | c.882G>A (p.Lys294=) c.789+182G>A (n.789+182G>A) c.723G>A (p.Lys241=) n.91G>A | |
11 | g.47441642T>A | CA380329049 | RAPSN | c.881A>T (p.Lys294Met) c.789+181A>T (n.789+181A>T) c.722A>T (p.Lys241Met) n.90A>T | |
11 | g.47441642T>C | CA5976597 | RAPSN | c.881A>G (p.Lys294Arg) c.789+181A>G (n.789+181A>G) c.722A>G (p.Lys241Arg) n.90A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441642T>G | CA380329052 | RAPSN | c.881A>C (p.Lys294Thr) c.789+181A>C (n.789+181A>C) c.722A>C (p.Lys241Thr) n.90A>C | |
11 | g.47441642T= | CA1969387566 | RAPSN | c.881A= (p.Lys294=) c.789+181A= (n.789+181A=) c.722A= (p.Lys241=) n.90A= | |
11 | g.47441643T>A | CA380329076 | RAPSN | c.880A>T (p.Lys294Ter) c.789+180A>T (n.789+180A>T) c.721A>T (p.Lys241Ter) n.89A>T | |
11 | g.47441643T>C | CA380329072 | RAPSN | c.880A>G (p.Lys294Glu) c.789+180A>G (n.789+180A>G) c.721A>G (p.Lys241Glu) n.89A>G | |
11 | g.47441643T>G | CA380329068 | RAPSN | c.880A>C (p.Lys294Gln) c.789+180A>C (n.789+180A>C) c.721A>C (p.Lys241Gln) n.89A>C | gnomAD v4 |
11 | g.47441644G>A | CA474218100 | RAPSN | c.879C>T (p.Ala293=) c.789+179C>T (n.789+179C>T) c.720C>T (p.Ala240=) n.88C>T | |
11 | g.47441644G>C | CA474218102 | RAPSN | c.879C>G (p.Ala293=) c.789+179C>G (n.789+179C>G) c.720C>G (p.Ala240=) n.88C>G | |
11 | g.47441644G>T | CA474218103 | RAPSN | c.879C>A (p.Ala293=) c.789+179C>A (n.789+179C>A) c.720C>A (p.Ala240=) n.88C>A | gnomAD v4 |
11 | g.47441645G>A | CA221716200 | RAPSN | c.878C>T (p.Ala293Val) c.789+178C>T (n.789+178C>T) c.719C>T (p.Ala240Val) n.87C>T | dbSNP |
11 | g.47441645G>C | CA380329092 | RAPSN | c.878C>G (p.Ala293Gly) c.789+178C>G (n.789+178C>G) c.719C>G (p.Ala240Gly) n.87C>G | |
11 | g.47441645G= | CA1969387567 | RAPSN | c.878C= (p.Ala293=) c.789+178C= (n.789+178C=) c.719C= (p.Ala240=) n.87C= | |
11 | g.47441645G>T | CA380329096 | RAPSN | c.878C>A (p.Ala293Asp) c.789+178C>A (n.789+178C>A) c.719C>A (p.Ala240Asp) n.87C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441646C>A | CA380329109 | RAPSN | c.877G>T (p.Ala293Ser) c.789+177G>T (n.789+177G>T) c.718G>T (p.Ala240Ser) n.86G>T | |
11 | g.47441646C= | CA1969387568 | RAPSN | c.877G= (p.Ala293=) c.789+177G= (n.789+177G=) c.718G= (p.Ala240=) n.86G= | |
11 | g.47441646C>G | CA380329113 | RAPSN | c.877G>C (p.Ala293Pro) c.789+177G>C (n.789+177G>C) c.718G>C (p.Ala240Pro) n.86G>C | |
11 | g.47441646C>T | CA380329116 | RAPSN | c.877G>A (p.Ala293Thr) c.789+177G>A (n.789+177G>A) c.718G>A (p.Ala240Thr) n.86G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441647C>A | CA474218106 | RAPSN | c.876G>T (p.Val292=) c.789+176G>T (n.789+176G>T) c.717G>T (p.Val239=) n.85G>T | gnomAD v4 |
11 | g.47441647C>G | CA474218107 | RAPSN | c.876G>C (p.Val292=) c.789+176G>C (n.789+176G>C) c.717G>C (p.Val239=) n.85G>C | |
11 | g.47441647C>T | CA474218108 | RAPSN | c.876G>A (p.Val292=) c.789+176G>A (n.789+176G>A) c.717G>A (p.Val239=) n.85G>A | dbSNP |
11 | g.47441648A>C | CA380329126 | RAPSN | c.875T>G (p.Val292Gly) c.789+175T>G (n.789+175T>G) c.716T>G (p.Val239Gly) n.84T>G | |
11 | g.47441648A>G | CA380329123 | RAPSN | c.875T>C (p.Val292Ala) c.789+175T>C (n.789+175T>C) c.716T>C (p.Val239Ala) n.84T>C | |
11 | g.47441648A>T | CA380329119 | RAPSN | c.875T>A (p.Val292Glu) c.789+175T>A (n.789+175T>A) c.716T>A (p.Val239Glu) n.84T>A | |
11 | g.47441649C>A | CA380329127 | RAPSN | c.874G>T (p.Val292Leu) c.789+174G>T (n.789+174G>T) c.715G>T (p.Val239Leu) n.83G>T | |
11 | g.47441649C= | CA1969387569 | RAPSN | c.874G= (p.Val292=) c.789+174G= (n.789+174G=) c.715G= (p.Val239=) n.83G= | |
11 | g.47441649C>G | CA380329129 | RAPSN | c.874G>C (p.Val292Leu) c.789+174G>C (n.789+174G>C) c.715G>C (p.Val239Leu) n.83G>C | |
11 | g.47441649C>T | CA221716205 | RAPSN | c.874G>A (p.Val292Met) c.789+174G>A (n.789+174G>A) c.715G>A (p.Val239Met) n.83G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441650del | CA645579421 | RAPSN | c.873del (p.Val292TrpfsTer?) c.789+173del (n.789+173del) c.714del (p.Val239TrpfsTer?) n.82del c.873del (p.Val292TrpfsTer14) c.873del (p.Val292TrpfsTer23) | COSMIC |
11 | g.47441650A= | CA1969387570 | RAPSN | c.873T= (p.Gly291=) c.789+173T= (n.789+173T=) c.714T= (p.Gly238=) n.82T= | |
11 | g.47441650A>C | CA474218112 | RAPSN | c.873T>G (p.Gly291=) c.789+173T>G (n.789+173T>G) c.714T>G (p.Gly238=) n.82T>G | dbSNP |
11 | g.47441650A>G | CA474218113 | RAPSN | c.873T>C (p.Gly291=) c.789+173T>C (n.789+173T>C) c.714T>C (p.Gly238=) n.82T>C | |
11 | g.47441650A>T | CA474218114 | RAPSN | c.873T>A (p.Gly291=) c.789+173T>A (n.789+173T>A) c.714T>A (p.Gly238=) n.82T>A | |
11 | g.47441651C>A | CA380329133 | RAPSN | c.872G>T (p.Gly291Val) c.789+172G>T (n.789+172G>T) c.713G>T (p.Gly238Val) n.81G>T | |
11 | g.47441651C= | CA1969387571 | RAPSN | c.872G= (p.Gly291=) c.789+172G= (n.789+172G=) c.713G= (p.Gly238=) n.81G= | |
11 | g.47441651C>G | CA380329137 | RAPSN | c.872G>C (p.Gly291Ala) c.789+172G>C (n.789+172G>C) c.713G>C (p.Gly238Ala) n.81G>C | ClinVar dbSNP |
11 | g.47441651C>T | CA5976598 | RAPSN | c.872G>A (p.Gly291Asp) c.789+172G>A (n.789+172G>A) c.713G>A (p.Gly238Asp) n.81G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441652C>A | CA5976599 | RAPSN | c.871G>T (p.Gly291Cys) c.789+171G>T (n.789+171G>T) c.712G>T (p.Gly238Cys) n.80G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441652C= | CA1969387572 | RAPSN | c.871G= (p.Gly291=) c.789+171G= (n.789+171G=) c.712G= (p.Gly238=) n.80G= | |
11 | g.47441652C>G | CA380329148 | RAPSN | c.871G>C (p.Gly291Arg) c.789+171G>C (n.789+171G>C) c.712G>C (p.Gly238Arg) n.80G>C | |
11 | g.47441652C>T | CA380329146 | RAPSN | c.871G>A (p.Gly291Ser) c.789+171G>A (n.789+171G>A) c.712G>A (p.Gly238Ser) n.80G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441653C>A | CA474218117 | RAPSN | c.870G>T (p.Leu290=) c.789+170G>T (n.789+170G>T) c.711G>T (p.Leu237=) n.79G>T | |
11 | g.47441653C= | CA1969387573 | RAPSN | c.870G= (p.Leu290=) c.789+170G= (n.789+170G=) c.711G= (p.Leu237=) n.79G= | |
11 | g.47441653C>G | CA474218120 | RAPSN | c.870G>C (p.Leu290=) c.789+170G>C (n.789+170G>C) c.711G>C (p.Leu237=) n.79G>C | |
11 | g.47441653C>T | CA5976600 | RAPSN | c.870G>A (p.Leu290=) c.789+170G>A (n.789+170G>A) c.711G>A (p.Leu237=) n.79G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441654A>C | CA380329156 | RAPSN | c.869T>G (p.Leu290Arg) c.789+169T>G (n.789+169T>G) c.710T>G (p.Leu237Arg) n.78T>G | |
11 | g.47441654A>G | CA380329160 | RAPSN | c.869T>C (p.Leu290Pro) c.789+169T>C (n.789+169T>C) c.710T>C (p.Leu237Pro) n.78T>C | |
11 | g.47441654A>T | CA380329162 | RAPSN | c.869T>A (p.Leu290Gln) c.789+169T>A (n.789+169T>A) c.710T>A (p.Leu237Gln) n.78T>A | |
11 | g.47441655G>A | CA474218122 | RAPSN | c.868C>T (p.Leu290=) c.789+168C>T (n.789+168C>T) c.709C>T (p.Leu237=) n.77C>T | ClinVar gnomAD v4 |
11 | g.47441655G>C | CA380329165 | RAPSN | c.868C>G (p.Leu290Val) c.789+168C>G (n.789+168C>G) c.709C>G (p.Leu237Val) n.77C>G | |
11 | g.47441655G>T | CA380329168 | RAPSN | c.868C>A (p.Leu290Met) c.789+168C>A (n.789+168C>A) c.709C>A (p.Leu237Met) n.77C>A | gnomAD v4 |
11 | g.47441656C>A | CA474218123 | RAPSN | c.867G>T (p.Leu289=) c.789+167G>T (n.789+167G>T) c.708G>T (p.Leu236=) n.76G>T | |
11 | g.47441656C>G | CA474218124 | RAPSN | c.867G>C (p.Leu289=) c.789+167G>C (n.789+167G>C) c.708G>C (p.Leu236=) n.76G>C | |
11 | g.47441656C>T | CA474218126 | RAPSN | c.867G>A (p.Leu289=) c.789+167G>A (n.789+167G>A) c.708G>A (p.Leu236=) n.76G>A | ClinVar gnomAD v4 |
11 | g.47441657A>C | CA380329172 | RAPSN | c.866T>G (p.Leu289Arg) c.789+166T>G (n.789+166T>G) c.707T>G (p.Leu236Arg) n.75T>G | |
11 | g.47441657A>G | CA380329175 | RAPSN | c.866T>C (p.Leu289Pro) c.789+166T>C (n.789+166T>C) c.707T>C (p.Leu236Pro) n.75T>C | |
11 | g.47441657A>T | CA380329179 | RAPSN | c.866T>A (p.Leu289Gln) c.789+166T>A (n.789+166T>A) c.707T>A (p.Leu236Gln) n.75T>A | |
11 | g.47441658G>A | CA474218127 | RAPSN | c.865C>T (p.Leu289=) c.789+165C>T (n.789+165C>T) c.706C>T (p.Leu236=) n.74C>T | ClinVar dbSNP |
11 | g.47441658G>C | CA380329182 | RAPSN | c.865C>G (p.Leu289Val) c.789+165C>G (n.789+165C>G) c.706C>G (p.Leu236Val) n.74C>G | |
11 | g.47441658G>T | CA380329185 | RAPSN | c.865C>A (p.Leu289Met) c.789+165C>A (n.789+165C>A) c.706C>A (p.Leu236Met) n.74C>A | gnomAD v4 |
11 | g.47441660_47441665dup | CA2574817142 | RAPSN | c.860_865dup (p.Ala288_Leu289insGlnAla) c.789+160_789+165dup (n.789+160_789+165dup) c.701_706dup (p.Ala235_Leu236insGlnAla) n.69_74dup | |
11 | g.47441659C>A | CA474218128 | RAPSN | c.864G>T (p.Ala288=) c.789+164G>T (n.789+164G>T) c.705G>T (p.Ala235=) n.73G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441659C= | CA1969387574 | RAPSN | c.864G= (p.Ala288=) c.789+164G= (n.789+164G=) c.705G= (p.Ala235=) n.73G= | |
11 | g.47441659C>G | CA474218130 | RAPSN | c.864G>C (p.Ala288=) c.789+164G>C (n.789+164G>C) c.705G>C (p.Ala235=) n.73G>C | |
11 | g.47441659C>T | CA5976601 | RAPSN | c.864G>A (p.Ala288=) c.789+164G>A (n.789+164G>A) c.705G>A (p.Ala235=) n.73G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441660G>A | CA5976602 | RAPSN | c.863C>T (p.Ala288Val) c.789+163C>T (n.789+163C>T) c.704C>T (p.Ala235Val) n.72C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47441660G>C | CA380329201 | RAPSN | c.863C>G (p.Ala288Gly) c.789+163C>G (n.789+163C>G) c.704C>G (p.Ala235Gly) n.72C>G | |
11 | g.47441660G= | CA1969387575 | RAPSN | c.863C= (p.Ala288=) c.789+163C= (n.789+163C=) c.704C= (p.Ala235=) n.72C= | |
11 | g.47441660G>T | CA380329200 | RAPSN | c.863C>A (p.Ala288Glu) c.789+163C>A (n.789+163C>A) c.704C>A (p.Ala235Glu) n.72C>A | gnomAD v4 COSMIC |
11 | g.47441661C>A | CA380329202 | RAPSN | c.862G>T (p.Ala288Ser) c.789+162G>T (n.789+162G>T) c.703G>T (p.Ala235Ser) n.71G>T | |
11 | g.47441661C>G | CA380329203 | RAPSN | c.862G>C (p.Ala288Pro) c.789+162G>C (n.789+162G>C) c.703G>C (p.Ala235Pro) n.71G>C | |
11 | g.47441661C>T | CA380329204 | RAPSN | c.862G>A (p.Ala288Thr) c.789+162G>A (n.789+162G>A) c.703G>A (p.Ala235Thr) n.71G>A | |
11 | g.47441662C>A | CA380329205 | RAPSN | c.861G>T (p.Gln287His) c.789+161G>T (n.789+161G>T) c.702G>T (p.Gln234His) n.70G>T | |
11 | g.47441662C= | CA1969387576 | RAPSN | c.861G= (p.Gln287=) c.789+161G= (n.789+161G=) c.702G= (p.Gln234=) n.70G= | |
11 | g.47441662C>G | CA380329208 | RAPSN | c.861G>C (p.Gln287His) c.789+161G>C (n.789+161G>C) c.702G>C (p.Gln234His) n.70G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441662C>T | CA474218132 | RAPSN | c.861G>A (p.Gln287=) c.789+161G>A (n.789+161G>A) c.702G>A (p.Gln234=) n.70G>A | |
11 | g.47441663T>A | CA380329217 | RAPSN | c.860A>T (p.Gln287Leu) c.789+160A>T (n.789+160A>T) c.701A>T (p.Gln234Leu) n.69A>T | gnomAD v4 |
11 | g.47441663T>C | CA380329212 | RAPSN | c.860A>G (p.Gln287Arg) c.789+160A>G (n.789+160A>G) c.701A>G (p.Gln234Arg) n.69A>G | gnomAD v4 |
11 | g.47441663T>G | CA380329210 | RAPSN | c.860A>C (p.Gln287Pro) c.789+160A>C (n.789+160A>C) c.701A>C (p.Gln234Pro) n.69A>C | |
11 | g.47441664G>A | CA380329220 | RAPSN | c.859C>T (p.Gln287Ter) c.789+159C>T (n.789+159C>T) c.700C>T (p.Gln234Ter) n.68C>T | gnomAD v4 |
11 | g.47441664G>C | CA380329221 | RAPSN | c.859C>G (p.Gln287Glu) c.789+159C>G (n.789+159C>G) c.700C>G (p.Gln234Glu) n.68C>G | |
11 | g.47441664G>T | CA380329222 | RAPSN | c.859C>A (p.Gln287Lys) c.789+159C>A (n.789+159C>A) c.700C>A (p.Gln234Lys) n.68C>A | gnomAD v4 |
11 | g.47441665C>A | CA474218136 | RAPSN | c.858G>T (p.Val286=) c.789+158G>T (n.789+158G>T) c.699G>T (p.Val233=) n.67G>T | |
11 | g.47441665C= | CA1969387577 | RAPSN | c.858G= (p.Val286=) c.789+158G= (n.789+158G=) c.699G= (p.Val233=) n.67G= | |
11 | g.47441665C>G | CA474218138 | RAPSN | c.858G>C (p.Val286=) c.789+158G>C (n.789+158G>C) c.699G>C (p.Val233=) n.67G>C | |
11 | g.47441665C>T | CA221716232 | RAPSN | c.858G>A (p.Val286=) c.789+158G>A (n.789+158G>A) c.699G>A (p.Val233=) n.67G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441666A= | CA1969387578 | RAPSN | c.857T= (p.Val286=) c.789+157T= (n.789+157T=) c.698T= (p.Val233=) n.66T= | |
11 | g.47441666A>C | CA380329225 | RAPSN | c.857T>G (p.Val286Gly) c.789+157T>G (n.789+157T>G) c.698T>G (p.Val233Gly) n.66T>G | dbSNP |
11 | g.47441666A>G | CA380329226 | RAPSN | c.857T>C (p.Val286Ala) c.789+157T>C (n.789+157T>C) c.698T>C (p.Val233Ala) n.66T>C | |
11 | g.47441666A>T | CA380329227 | RAPSN | c.857T>A (p.Val286Glu) c.789+157T>A (n.789+157T>A) c.698T>A (p.Val233Glu) n.66T>A | |
11 | g.47441667C>A | CA380329231 | RAPSN | c.856G>T (p.Val286Leu) c.789+156G>T (n.789+156G>T) c.697G>T (p.Val233Leu) n.65G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441667C= | CA1969387579 | RAPSN | c.856G= (p.Val286=) c.789+156G= (n.789+156G=) c.697G= (p.Val233=) n.65G= | |
11 | g.47441667C>G | CA380329237 | RAPSN | c.856G>C (p.Val286Leu) c.789+156G>C (n.789+156G>C) c.697G>C (p.Val233Leu) n.65G>C | gnomAD v4 |
11 | g.47441667C>T | CA380329234 | RAPSN | c.856G>A (p.Val286Met) c.789+156G>A (n.789+156G>A) c.697G>A (p.Val233Met) n.65G>A | gnomAD v4 |
11 | g.47441668C>A | CA380329238 | RAPSN | c.855G>T (p.Gln285His) c.789+155G>T (n.789+155G>T) c.696G>T (p.Gln232His) n.64G>T | |
11 | g.47441668C= | CA1630848699 | RAPSN | c.855G= (p.Gln285=) c.789+155G= (n.789+155G=) c.696G= (p.Gln232=) n.64G= | |
11 | g.47441668C>G | CA380329241 | RAPSN | c.855G>C (p.Gln285His) c.789+155G>C (n.789+155G>C) c.696G>C (p.Gln232His) n.64G>C | |
11 | g.47441668C>T | CA154878 | RAPSN | c.855G>A (p.Gln285=) c.789+155G>A (n.789+155G>A) c.696G>A (p.Gln232=) n.64G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441668_47441670delinsCTG | CA1969387580 | RAPSN | c.853_855delinsCAG (p.Gln285=) c.789+153_789+155delinsCAG (n.789+153_789+155delinsCAG) c.694_696delinsCAG (p.Gln232=) n.62_64delinsCAG | |
11 | g.47441668_47441670delinsTTA | CA10603216 | RAPSN | c.853_855delinsTAA (p.Gln285Ter) c.789+153_789+155delinsTAA (n.789+153_789+155delinsTAA) c.694_696delinsTAA (p.Gln232Ter) n.62_64delinsTAA | ClinVar dbSNP |
11 | g.47441669T>A | CA380329257 | RAPSN | c.854A>T (p.Gln285Leu) c.789+154A>T (n.789+154A>T) c.695A>T (p.Gln232Leu) n.63A>T | |
11 | g.47441669T>C | CA380329263 | RAPSN | c.854A>G (p.Gln285Arg) c.789+154A>G (n.789+154A>G) c.695A>G (p.Gln232Arg) n.63A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441669T>G | CA380329267 | RAPSN | c.854A>C (p.Gln285Pro) c.789+154A>C (n.789+154A>C) c.695A>C (p.Gln232Pro) n.63A>C | |
11 | g.47441669T= | CA1969387581 | RAPSN | c.854A= (p.Gln285=) c.789+154A= (n.789+154A=) c.695A= (p.Gln232=) n.63A= | |
11 | g.47441670G>A | CA380329271 | RAPSN | c.853C>T (p.Gln285Ter) c.789+153C>T (n.789+153C>T) c.694C>T (p.Gln232Ter) n.62C>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441670G>C | CA380329272 | RAPSN | c.853C>G (p.Gln285Glu) c.789+153C>G (n.789+153C>G) c.694C>G (p.Gln232Glu) n.62C>G | |
11 | g.47441670G= | CA1969387582 | RAPSN | c.853C= (p.Gln285=) c.789+153C= (n.789+153C=) c.694C= (p.Gln232=) n.62C= | |
11 | g.47441670G>T | CA380329274 | RAPSN | c.853C>A (p.Gln285Lys) c.789+153C>A (n.789+153C>A) c.694C>A (p.Gln232Lys) n.62C>A | gnomAD v4 |
11 | g.47441671C>A | CA474218142 | RAPSN | c.852G>T (p.Gly284=) c.789+152G>T (n.789+152G>T) c.693G>T (p.Gly231=) n.61G>T | |
11 | g.47441671C>G | CA474218143 | RAPSN | c.852G>C (p.Gly284=) c.789+152G>C (n.789+152G>C) c.693G>C (p.Gly231=) n.61G>C | |
11 | g.47441671C>T | CA474218144 | RAPSN | c.852G>A (p.Gly284=) c.789+152G>A (n.789+152G>A) c.693G>A (p.Gly231=) n.61G>A | gnomAD v4 |
11 | g.47441674del | CA2613411535 | RAPSN | c.852del (p.Gln285ArgfsTer?) c.789+152del (n.789+152del) c.693del (p.Gln232ArgfsTer?) n.61del c.852del (p.Gln285ArgfsTer21) | gnomAD v4 |
11 | g.47441672C>A | CA380329278 | RAPSN | c.851G>T (p.Gly284Val) c.789+151G>T (n.789+151G>T) c.692G>T (p.Gly231Val) n.60G>T | |
11 | g.47441672C>G | CA380329290 | RAPSN | c.851G>C (p.Gly284Ala) c.789+151G>C (n.789+151G>C) c.692G>C (p.Gly231Ala) n.60G>C | |
11 | g.47441672C>T | CA380329281 | RAPSN | c.851G>A (p.Gly284Glu) c.789+151G>A (n.789+151G>A) c.692G>A (p.Gly231Glu) n.60G>A | |
11 | g.47441673C>A | CA380329293 | RAPSN | c.850G>T (p.Gly284Trp) c.789+150G>T (n.789+150G>T) c.691G>T (p.Gly231Trp) n.59G>T | |
11 | g.47441673C= | CA1969387583 | RAPSN | c.850G= (p.Gly284=) c.789+150G= (n.789+150G=) c.691G= (p.Gly231=) n.59G= | |
11 | g.47441673C>G | CA380329294 | RAPSN | c.850G>C (p.Gly284Arg) c.789+150G>C (n.789+150G>C) c.691G>C (p.Gly231Arg) n.59G>C | |
11 | g.47441673C>T | CA380329296 | RAPSN | c.850G>A (p.Gly284Arg) c.789+150G>A (n.789+150G>A) c.691G>A (p.Gly231Arg) n.59G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441674C>A | CA474218145 | RAPSN | c.849G>T (p.Leu283=) c.789+149G>T (n.789+149G>T) c.690G>T (p.Leu230=) n.58G>T | |
11 | g.47441674C= | CA1969387584 | RAPSN | c.849G= (p.Leu283=) c.789+149G= (n.789+149G=) c.690G= (p.Leu230=) n.58G= | |
11 | g.47441674C>G | CA474218146 | RAPSN | c.849G>C (p.Leu283=) c.789+149G>C (n.789+149G>C) c.690G>C (p.Leu230=) n.58G>C | |
11 | g.47441674C>T | CA474218148 | RAPSN | c.849G>A (p.Leu283=) c.789+149G>A (n.789+149G>A) c.690G>A (p.Leu230=) n.58G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441675A= | CA1969387585 | RAPSN | c.848T= (p.Leu283=) c.789+148T= (n.789+148T=) c.689T= (p.Leu230=) n.57T= | |
11 | g.47441675A>C | CA380329298 | RAPSN | c.848T>G (p.Leu283Arg) c.789+148T>G (n.789+148T>G) c.689T>G (p.Leu230Arg) n.57T>G | |
11 | g.47441675A>G | CA119255 | RAPSN | c.848T>C (p.Leu283Pro) c.789+148T>C (n.789+148T>C) c.689T>C (p.Leu230Pro) n.57T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441675A>T | CA380329330 | RAPSN | c.848T>A (p.Leu283Gln) c.789+148T>A (n.789+148T>A) c.689T>A (p.Leu230Gln) n.57T>A | |
11 | g.47441676G>A | CA474218149 | RAPSN | c.847C>T (p.Leu283=) c.789+147C>T (n.789+147C>T) c.688C>T (p.Leu230=) n.56C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441676G>C | CA5976603 | RAPSN | c.847C>G (p.Leu283Val) c.789+147C>G (n.789+147C>G) c.688C>G (p.Leu230Val) n.56C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441676G= | CA1969387586 | RAPSN | c.847C= (p.Leu283=) c.789+147C= (n.789+147C=) c.688C= (p.Leu230=) n.56C= | |
11 | g.47441676G>T | CA380329336 | RAPSN | c.847C>A (p.Leu283Met) c.789+147C>A (n.789+147C>A) c.688C>A (p.Leu230Met) n.56C>A | gnomAD v4 |
11 | g.47441677G>A | CA474218150 | RAPSN | c.846C>T (p.Arg282=) c.789+146C>T (n.789+146C>T) c.687C>T (p.Arg229=) n.55C>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441677G>C | CA474218151 | RAPSN | c.846C>G (p.Arg282=) c.789+146C>G (n.789+146C>G) c.687C>G (p.Arg229=) n.55C>G | |
11 | g.47441677G= | CA1969387587 | RAPSN | c.846C= (p.Arg282=) c.789+146C= (n.789+146C=) c.687C= (p.Arg229=) n.55C= | |
11 | g.47441677G>T | CA474218152 | RAPSN | c.846C>A (p.Arg282=) c.789+146C>A (n.789+146C>A) c.687C>A (p.Arg229=) n.55C>A | gnomAD v4 |
11 | g.47441678C>A | CA380329342 | RAPSN | c.845G>T (p.Arg282Leu) c.789+145G>T (n.789+145G>T) c.686G>T (p.Arg229Leu) n.54G>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441678C= | CA1969387588 | RAPSN | c.845G= (p.Arg282=) c.789+145G= (n.789+145G=) c.686G= (p.Arg229=) n.54G= | |
11 | g.47441678C>G | CA380329346 | RAPSN | c.845G>C (p.Arg282Pro) c.789+145G>C (n.789+145G>C) c.686G>C (p.Arg229Pro) n.54G>C | |
11 | g.47441678C>T | CA5976604 | RAPSN | c.845G>A (p.Arg282His) c.789+145G>A (n.789+145G>A) c.686G>A (p.Arg229His) n.54G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441679G>A | CA5976605 | RAPSN | c.844C>T (p.Arg282Cys) c.789+144C>T (n.789+144C>T) c.685C>T (p.Arg229Cys) n.53C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47441679G>C | CA380329356 | RAPSN | c.844C>G (p.Arg282Gly) c.789+144C>G (n.789+144C>G) c.685C>G (p.Arg229Gly) n.53C>G | |
11 | g.47441679G= | CA1969387589 | RAPSN | c.844C= (p.Arg282=) c.789+144C= (n.789+144C=) c.685C= (p.Arg229=) n.53C= | |
11 | g.47441679G>T | CA380329365 | RAPSN | c.844C>A (p.Arg282Ser) c.789+144C>A (n.789+144C>A) c.685C>A (p.Arg229Ser) n.53C>A | gnomAD v4 |
11 | g.47441680G>A | CA474218154 | RAPSN | c.843C>T (p.Asn281=) c.789+143C>T (n.789+143C>T) c.684C>T (p.Asn228=) n.52C>T | |
11 | g.47441680G>C | CA380329370 | RAPSN | c.843C>G (p.Asn281Lys) c.789+143C>G (n.789+143C>G) c.684C>G (p.Asn228Lys) n.52C>G | |
11 | g.47441680G>T | CA380329368 | RAPSN | c.843C>A (p.Asn281Lys) c.789+143C>A (n.789+143C>A) c.684C>A (p.Asn228Lys) n.52C>A | gnomAD v4 |
11 | g.47441681T>A | CA380329374 | RAPSN | c.842A>T (p.Asn281Ile) c.789+142A>T (n.789+142A>T) c.683A>T (p.Asn228Ile) n.51A>T | |
11 | g.47441681T>C | CA380329376 | RAPSN | c.842A>G (p.Asn281Ser) c.789+142A>G (n.789+142A>G) c.683A>G (p.Asn228Ser) n.51A>G | gnomAD v4 |
11 | g.47441681T>G | CA380329383 | RAPSN | c.842A>C (p.Asn281Thr) c.789+142A>C (n.789+142A>C) c.683A>C (p.Asn228Thr) n.51A>C | dbSNP |
11 | g.47441682T>A | CA380329402 | RAPSN | c.841A>T (p.Asn281Tyr) c.789+141A>T (n.789+141A>T) c.682A>T (p.Asn228Tyr) n.50A>T | |
11 | g.47441682T>C | CA380329407 | RAPSN | c.841A>G (p.Asn281Asp) c.789+141A>G (n.789+141A>G) c.682A>G (p.Asn228Asp) n.50A>G | |
11 | g.47441682T>G | CA380329423 | RAPSN | c.841A>C (p.Asn281His) c.789+141A>C (n.789+141A>C) c.682A>C (p.Asn228His) n.50A>C | gnomAD v4 |
11 | g.47441683T>A | CA474218158 | RAPSN | c.840A>T (p.Gly280=) c.789+140A>T (n.789+140A>T) c.681A>T (p.Gly227=) n.49A>T | |
11 | g.47441683T>C | CA474218160 | RAPSN | c.840A>G (p.Gly280=) c.789+140A>G (n.789+140A>G) c.681A>G (p.Gly227=) n.49A>G | gnomAD v4 |
11 | g.47441683T>G | CA474218159 | RAPSN | c.840A>C (p.Gly280=) c.789+140A>C (n.789+140A>C) c.681A>C (p.Gly227=) n.49A>C | |
11 | g.47441684C>A | CA380329453 | RAPSN | c.839G>T (p.Gly280Val) c.789+139G>T (n.789+139G>T) c.680G>T (p.Gly227Val) n.48G>T | gnomAD v4 |
11 | g.47441684C>G | CA380329433 | RAPSN | c.839G>C (p.Gly280Ala) c.789+139G>C (n.789+139G>C) c.680G>C (p.Gly227Ala) n.48G>C | |
11 | g.47441684C>T | CA380329449 | RAPSN | c.839G>A (p.Gly280Glu) c.789+139G>A (n.789+139G>A) c.680G>A (p.Gly227Glu) n.48G>A | COSMIC |
11 | g.47441685C>A | CA380329470 | RAPSN | c.838G>T (p.Gly280Ter) c.789+138G>T (n.789+138G>T) c.679G>T (p.Gly227Ter) n.47G>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441685C= | CA1969387590 | RAPSN | c.838G= (p.Gly280=) c.789+138G= (n.789+138G=) c.679G= (p.Gly227=) n.47G= | |
11 | g.47441685C>G | CA380329477 | RAPSN | c.838G>C (p.Gly280Arg) c.789+138G>C (n.789+138G>C) c.679G>C (p.Gly227Arg) n.47G>C | |
11 | g.47441685C>T | CA380329479 | RAPSN | c.838G>A (p.Gly280Arg) c.789+138G>A (n.789+138G>A) c.679G>A (p.Gly227Arg) n.47G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441686G>A | CA5976606 | RAPSN | c.837C>T (p.Ile279=) c.789+137C>T (n.789+137C>T) c.678C>T (p.Ile226=) n.46C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441686G>C | CA5976607 | RAPSN | c.837C>G (p.Ile279Met) c.789+137C>G (n.789+137C>G) c.678C>G (p.Ile226Met) n.46C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441686G= | CA1969387591 | RAPSN | c.837C= (p.Ile279=) c.789+137C= (n.789+137C=) c.678C= (p.Ile226=) n.46C= | |
11 | g.47441686G>T | CA474218162 | RAPSN | c.837C>A (p.Ile279=) c.789+137C>A (n.789+137C>A) c.678C>A (p.Ile226=) n.46C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441687A>C | CA380329504 | RAPSN | c.836T>G (p.Ile279Ser) c.789+136T>G (n.789+136T>G) c.677T>G (p.Ile226Ser) n.45T>G | |
11 | g.47441687A>G | CA380329492 | RAPSN | c.836T>C (p.Ile279Thr) c.789+136T>C (n.789+136T>C) c.677T>C (p.Ile226Thr) n.45T>C | |
11 | g.47441687A>T | CA380329501 | RAPSN | c.836T>A (p.Ile279Asn) c.789+136T>A (n.789+136T>A) c.677T>A (p.Ile226Asn) n.45T>A | |
11 | g.47441688T>A | CA380329507 | RAPSN | c.835A>T (p.Ile279Phe) c.789+135A>T (n.789+135A>T) c.676A>T (p.Ile226Phe) n.44A>T | |
11 | g.47441688T>C | CA380329539 | RAPSN | c.835A>G (p.Ile279Val) c.789+135A>G (n.789+135A>G) c.676A>G (p.Ile226Val) n.44A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441688T>G | CA380329540 | RAPSN | c.835A>C (p.Ile279Leu) c.789+135A>C (n.789+135A>C) c.676A>C (p.Ile226Leu) n.44A>C | |
11 | g.47441688T= | CA1969387592 | RAPSN | c.835A= (p.Ile279=) c.789+135A= (n.789+135A=) c.676A= (p.Ile226=) n.44A= | |
11 | g.47441689C>A | CA380329541 | RAPSN | c.834G>T (p.Glu278Asp) c.789+134G>T (n.789+134G>T) c.675G>T (p.Glu225Asp) n.43G>T | |
11 | g.47441689C>G | CA380329542 | RAPSN | c.834G>C (p.Glu278Asp) c.789+134G>C (n.789+134G>C) c.675G>C (p.Glu225Asp) n.43G>C | |
11 | g.47441689C>T | CA474218166 | RAPSN | c.834G>A (p.Glu278=) c.789+134G>A (n.789+134G>A) c.675G>A (p.Glu225=) n.43G>A | ClinVar |
11 | g.47441690T>A | CA380329545 | RAPSN | c.833A>T (p.Glu278Val) c.789+133A>T (n.789+133A>T) c.674A>T (p.Glu225Val) n.42A>T | |
11 | g.47441690T>C | CA380329549 | RAPSN | c.833A>G (p.Glu278Gly) c.789+133A>G (n.789+133A>G) c.674A>G (p.Glu225Gly) n.42A>G | |
11 | g.47441690T>G | CA380329552 | RAPSN | c.833A>C (p.Glu278Ala) c.789+133A>C (n.789+133A>C) c.674A>C (p.Glu225Ala) n.42A>C | |
11 | g.47441691C>A | CA380329555 | RAPSN | c.832G>T (p.Glu278Ter) c.789+132G>T (n.789+132G>T) c.673G>T (p.Glu225Ter) n.41G>T | gnomAD v4 |
11 | g.47441691C= | CA1969387593 | RAPSN | c.832G= (p.Glu278=) c.789+132G= (n.789+132G=) c.673G= (p.Glu225=) n.41G= | |
11 | g.47441691C>G | CA380329558 | RAPSN | c.832G>C (p.Glu278Gln) c.789+132G>C (n.789+132G>C) c.673G>C (p.Glu225Gln) n.41G>C | |
11 | g.47441691C>T | CA380329559 | RAPSN | c.832G>A (p.Glu278Lys) c.789+132G>A (n.789+132G>A) c.673G>A (p.Glu225Lys) n.41G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.47441692G>A | CA5976608 | RAPSN | c.831C>T (p.Thr277=) c.789+131C>T (n.789+131C>T) c.672C>T (p.Thr224=) n.40C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441692G>C | CA474218170 | RAPSN | c.831C>G (p.Thr277=) c.789+131C>G (n.789+131C>G) c.672C>G (p.Thr224=) n.40C>G | gnomAD v4 |
11 | g.47441692G= | CA1969387594 | RAPSN | c.831C= (p.Thr277=) c.789+131C= (n.789+131C=) c.672C= (p.Thr224=) n.40C= | |
11 | g.47441692G>T | CA474218171 | RAPSN | c.831C>A (p.Thr277=) c.789+131C>A (n.789+131C>A) c.672C>A (p.Thr224=) n.40C>A | ClinVar dbSNP gnomAD v4 |
11 | g.47441693G>A | CA380329566 | RAPSN | c.830C>T (p.Thr277Ile) c.789+130C>T (n.789+130C>T) c.671C>T (p.Thr224Ile) n.39C>T | |
11 | g.47441693G>C | CA380329564 | RAPSN | c.830C>G (p.Thr277Ser) c.789+130C>G (n.789+130C>G) c.671C>G (p.Thr224Ser) n.39C>G | |
11 | g.47441693G>T | CA380329562 | RAPSN | c.830C>A (p.Thr277Asn) c.789+130C>A (n.789+130C>A) c.671C>A (p.Thr224Asn) n.39C>A | gnomAD v4 |
11 | g.47441694T>A | CA380329574 | RAPSN | c.829A>T (p.Thr277Ser) c.789+129A>T (n.789+129A>T) c.670A>T (p.Thr224Ser) n.38A>T | |
11 | g.47441694T>C | CA351331 | RAPSN | c.829A>G (p.Thr277Ala) c.789+129A>G (n.789+129A>G) c.670A>G (p.Thr224Ala) n.38A>G | dbSNP |
11 | g.47441694T>G | CA380329582 | RAPSN | c.829A>C (p.Thr277Pro) c.789+129A>C (n.789+129A>C) c.670A>C (p.Thr224Pro) n.38A>C | |
11 | g.47441694T= | CA1969387595 | RAPSN | c.829A= (p.Thr277=) c.789+129A= (n.789+129A=) c.670A= (p.Thr224=) n.38A= | |
11 | g.47441695C>A | CA380329584 | RAPSN | c.828G>T (p.Met276Ile) c.789+128G>T (n.789+128G>T) c.669G>T (p.Met223Ile) n.37G>T | gnomAD v4 |
11 | g.47441695C>G | CA380329585 | RAPSN | c.828G>C (p.Met276Ile) c.789+128G>C (n.789+128G>C) c.669G>C (p.Met223Ile) n.37G>C | |
11 | g.47441695C>T | CA380329587 | RAPSN | c.828G>A (p.Met276Ile) c.789+128G>A (n.789+128G>A) c.669G>A (p.Met223Ile) n.37G>A | |
11 | g.47441696A>C | CA380329591 | RAPSN | c.827T>G (p.Met276Arg) c.789+127T>G (n.789+127T>G) c.668T>G (p.Met223Arg) n.36T>G | |
11 | g.47441696A>G | CA380329593 | RAPSN | c.827T>C (p.Met276Thr) c.789+127T>C (n.789+127T>C) c.668T>C (p.Met223Thr) n.36T>C | gnomAD v4 |
11 | g.47441696A>T | CA380329602 | RAPSN | c.827T>A (p.Met276Lys) c.789+127T>A (n.789+127T>A) c.668T>A (p.Met223Lys) n.36T>A | |
11 | g.47441697T>A | CA380329605 | RAPSN | c.826A>T (p.Met276Leu) c.789+126A>T (n.789+126A>T) c.667A>T (p.Met223Leu) n.35A>T | gnomAD v4 |
11 | g.47441697T>C | CA380329607 | RAPSN | c.826A>G (p.Met276Val) c.789+126A>G (n.789+126A>G) c.667A>G (p.Met223Val) n.35A>G | ClinVar gnomAD v4 |
11 | g.47441697T>G | CA380329610 | RAPSN | c.826A>C (p.Met276Leu) c.789+126A>C (n.789+126A>C) c.667A>C (p.Met223Leu) n.35A>C | |
11 | g.47441698G>A | CA474218177 | RAPSN | c.825C>T (p.Ile275=) c.789+125C>T (n.789+125C>T) c.666C>T (p.Ile222=) n.34C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441698G>C | CA380329612 | RAPSN | c.825C>G (p.Ile275Met) c.789+125C>G (n.789+125C>G) c.666C>G (p.Ile222Met) n.34C>G | |
11 | g.47441698G= | CA1969387596 | RAPSN | c.825C= (p.Ile275=) c.789+125C= (n.789+125C=) c.666C= (p.Ile222=) n.34C= | |
11 | g.47441698G>T | CA474218178 | RAPSN | c.825C>A (p.Ile275=) c.789+125C>A (n.789+125C>A) c.666C>A (p.Ile222=) n.34C>A | gnomAD v4 |
11 | g.47441699A= | CA1969387597 | RAPSN | c.824T= (p.Ile275=) c.789+124T= (n.789+124T=) c.665T= (p.Ile222=) n.33T= | |
11 | g.47441699A>C | CA5976609 | RAPSN | c.824T>G (p.Ile275Ser) c.789+124T>G (n.789+124T>G) c.665T>G (p.Ile222Ser) n.33T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441699A>G | CA221716338 | RAPSN | c.824T>C (p.Ile275Thr) c.789+124T>C (n.789+124T>C) c.665T>C (p.Ile222Thr) n.33T>C | dbSNP |
11 | g.47441699A>T | CA380329616 | RAPSN | c.824T>A (p.Ile275Asn) c.789+124T>A (n.789+124T>A) c.665T>A (p.Ile222Asn) n.33T>A | |
11 | g.47441700T>A | CA380329635 | RAPSN | c.823A>T (p.Ile275Phe) c.789+123A>T (n.789+123A>T) c.664A>T (p.Ile222Phe) n.32A>T | |
11 | g.47441700T>C | CA380329643 | RAPSN | c.823A>G (p.Ile275Val) c.789+123A>G (n.789+123A>G) c.664A>G (p.Ile222Val) n.32A>G | |
11 | g.47441700T>G | CA380329639 | RAPSN | c.823A>C (p.Ile275Leu) c.789+123A>C (n.789+123A>C) c.664A>C (p.Ile222Leu) n.32A>C | |
11 | g.47441701G>A | CA474218179 | RAPSN | c.822C>T (p.Ser274=) c.789+122C>T (n.789+122C>T) c.663C>T (p.Ser221=) n.31C>T | ClinVar gnomAD v4 |
11 | g.47441701G>C | CA380329646 | RAPSN | c.822C>G (p.Ser274Arg) c.789+122C>G (n.789+122C>G) c.663C>G (p.Ser221Arg) n.31C>G | |
11 | g.47441701G= | CA1969387598 | RAPSN | c.822C= (p.Ser274=) c.789+122C= (n.789+122C=) c.663C= (p.Ser221=) n.31C= | |
11 | g.47441701G>T | CA5976610 | RAPSN | c.822C>A (p.Ser274Arg) c.789+122C>A (n.789+122C>A) c.663C>A (p.Ser221Arg) n.31C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441702C>A | CA380329649 | RAPSN | c.821G>T (p.Ser274Ile) c.789+121G>T (n.789+121G>T) c.662G>T (p.Ser221Ile) n.30G>T | |
11 | g.47441702C= | CA1969387599 | RAPSN | c.821G= (p.Ser274=) c.789+121G= (n.789+121G=) c.662G= (p.Ser221=) n.30G= | |
11 | g.47441702C>G | CA380329652 | RAPSN | c.821G>C (p.Ser274Thr) c.789+121G>C (n.789+121G>C) c.662G>C (p.Ser221Thr) n.30G>C | |
11 | g.47441702C>T | CA5976611 | RAPSN | c.821G>A (p.Ser274Asn) c.789+121G>A (n.789+121G>A) c.662G>A (p.Ser221Asn) n.30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441703T>A | CA380329658 | RAPSN | c.820A>T (p.Ser274Cys) c.789+120A>T (n.789+120A>T) c.661A>T (p.Ser221Cys) n.29A>T | |
11 | g.47441703T>C | CA380329659 | RAPSN | c.820A>G (p.Ser274Gly) c.789+120A>G (n.789+120A>G) c.661A>G (p.Ser221Gly) n.29A>G | |
11 | g.47441703T>G | CA221716343 | RAPSN | c.820A>C (p.Ser274Arg) c.789+120A>C (n.789+120A>C) c.661A>C (p.Ser221Arg) n.29A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441703T= | CA1969387600 | RAPSN | c.820A= (p.Ser274=) c.789+120A= (n.789+120A=) c.661A= (p.Ser221=) n.29A= | |
11 | g.47441704C>A | CA380329662 | RAPSN | c.819G>T (p.Met273Ile) c.789+119G>T (n.789+119G>T) c.660G>T (p.Met220Ile) n.28G>T | |
11 | g.47441704C= | CA1969387601 | RAPSN | c.819G= (p.Met273=) c.789+119G= (n.789+119G=) c.660G= (p.Met220=) n.28G= | |
11 | g.47441704C>G | CA380329666 | RAPSN | c.819G>C (p.Met273Ile) c.789+119G>C (n.789+119G>C) c.660G>C (p.Met220Ile) n.28G>C | |
11 | g.47441704C>T | CA5976612 | RAPSN | c.819G>A (p.Met273Ile) c.789+119G>A (n.789+119G>A) c.660G>A (p.Met220Ile) n.28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441705A= | CA1969387602 | RAPSN | c.818T= (p.Met273=) c.789+118T= (n.789+118T=) c.659T= (p.Met220=) n.27T= | |
11 | g.47441705A>C | CA221716353 | RAPSN | c.818T>G (p.Met273Arg) c.789+118T>G (n.789+118T>G) c.659T>G (p.Met220Arg) n.27T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441705A>G | CA380329687 | RAPSN | c.818T>C (p.Met273Thr) c.789+118T>C (n.789+118T>C) c.659T>C (p.Met220Thr) n.27T>C | dbSNP gnomAD v4 |
11 | g.47441705A>T | CA380329685 | RAPSN | c.818T>A (p.Met273Lys) c.789+118T>A (n.789+118T>A) c.659T>A (p.Met220Lys) n.27T>A | |
11 | g.47441706T>A | CA380329699 | RAPSN | c.817A>T (p.Met273Leu) c.789+117A>T (n.789+117A>T) c.658A>T (p.Met220Leu) n.26A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441706T>C | CA380329701 | RAPSN | c.817A>G (p.Met273Val) c.789+117A>G (n.789+117A>G) c.658A>G (p.Met220Val) n.26A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441706T>G | CA380329703 | RAPSN | c.817A>C (p.Met273Leu) c.789+117A>C (n.789+117A>C) c.658A>C (p.Met220Leu) n.26A>C | ClinVar gnomAD v4 |
11 | g.47441706T= | CA1969387603 | RAPSN | c.817A= (p.Met273=) c.789+117A= (n.789+117A=) c.658A= (p.Met220=) n.26A= | |
11 | g.47441707G>A | CA5976613 | RAPSN | c.816C>T (p.Ala272=) c.789+116C>T (n.789+116C>T) c.657C>T (p.Ala219=) n.25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441707G>C | CA474218182 | RAPSN | c.816C>G (p.Ala272=) c.789+116C>G (n.789+116C>G) c.657C>G (p.Ala219=) n.25C>G | |
11 | g.47441707G= | CA1969387604 | RAPSN | c.816C= (p.Ala272=) c.789+116C= (n.789+116C=) c.657C= (p.Ala219=) n.25C= | |
11 | g.47441707G>T | CA474218183 | RAPSN | c.816C>A (p.Ala272=) c.789+116C>A (n.789+116C>A) c.657C>A (p.Ala219=) n.25C>A | |
11 | g.47441708G>A | CA5976614 | RAPSN | c.815C>T (p.Ala272Val) c.789+115C>T (n.789+115C>T) c.656C>T (p.Ala219Val) n.24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441708G>C | CA380329710 | RAPSN | c.815C>G (p.Ala272Gly) c.789+115C>G (n.789+115C>G) c.656C>G (p.Ala219Gly) n.24C>G | |
11 | g.47441708G= | CA1969387605 | RAPSN | c.815C= (p.Ala272=) c.789+115C= (n.789+115C=) c.656C= (p.Ala219=) n.24C= | |
11 | g.47441708G>T | CA380329713 | RAPSN | c.815C>A (p.Ala272Asp) c.789+115C>A (n.789+115C>A) c.656C>A (p.Ala219Asp) n.24C>A | gnomAD v4 |
11 | g.47441709C>A | CA5976616 | RAPSN | c.814G>T (p.Ala272Ser) c.789+114G>T (n.789+114G>T) c.655G>T (p.Ala219Ser) n.23G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441709C= | CA1969387606 | RAPSN | c.814G= (p.Ala272=) c.789+114G= (n.789+114G=) c.655G= (p.Ala219=) n.23G= | |
11 | g.47441709C>G | CA380329720 | RAPSN | c.814G>C (p.Ala272Pro) c.789+114G>C (n.789+114G>C) c.655G>C (p.Ala219Pro) n.23G>C | |
11 | g.47441709C>T | CA5976615 | RAPSN | c.814G>A (p.Ala272Thr) c.789+114G>A (n.789+114G>A) c.655G>A (p.Ala219Thr) n.23G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441710G>A | CA5976617 | RAPSN | c.813C>T (p.Ser271=) c.789+113C>T (n.789+113C>T) c.654C>T (p.Ser218=) n.22C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441710G>C | CA474218184 | RAPSN | c.813C>G (p.Ser271=) c.789+113C>G (n.789+113C>G) c.654C>G (p.Ser218=) n.22C>G | |
11 | g.47441710G= | CA1969387607 | RAPSN | c.813C= (p.Ser271=) c.789+113C= (n.789+113C=) c.654C= (p.Ser218=) n.22C= | |
11 | g.47441710G>T | CA474218185 | RAPSN | c.813C>A (p.Ser271=) c.789+113C>A (n.789+113C>A) c.654C>A (p.Ser218=) n.22C>A | |
11 | g.47441711G>A | CA380329728 | RAPSN | c.812C>T (p.Ser271Phe) c.789+112C>T (n.789+112C>T) c.653C>T (p.Ser218Phe) n.21C>T | |
11 | g.47441711G>C | CA380329725 | RAPSN | c.812C>G (p.Ser271Cys) c.789+112C>G (n.789+112C>G) c.653C>G (p.Ser218Cys) n.21C>G | |
11 | g.47441711G>T | CA380329722 | RAPSN | c.812C>A (p.Ser271Tyr) c.789+112C>A (n.789+112C>A) c.653C>A (p.Ser218Tyr) n.21C>A | |
11 | g.47441712A>C | CA380329732 | RAPSN | c.811T>G (p.Ser271Ala) c.789+111T>G (n.789+111T>G) c.652T>G (p.Ser218Ala) n.20T>G | |
11 | g.47441712A>G | CA380329733 | RAPSN | c.811T>C (p.Ser271Pro) c.789+111T>C (n.789+111T>C) c.652T>C (p.Ser218Pro) n.20T>C | |
11 | g.47441712A>T | CA380329734 | RAPSN | c.811T>A (p.Ser271Thr) c.789+111T>A (n.789+111T>A) c.652T>A (p.Ser218Thr) n.20T>A | |
11 | g.47441713G>A | CA474218187 | RAPSN | c.810C>T (p.Asp270=) c.789+110C>T (n.789+110C>T) c.651C>T (p.Asp217=) n.19C>T | |
11 | g.47441713G>C | CA380329738 | RAPSN | c.810C>G (p.Asp270Glu) c.789+110C>G (n.789+110C>G) c.651C>G (p.Asp217Glu) n.19C>G | |
11 | g.47441713G>T | CA380329740 | RAPSN | c.810C>A (p.Asp270Glu) c.789+110C>A (n.789+110C>A) c.651C>A (p.Asp217Glu) n.19C>A | gnomAD v4 |
11 | g.47441714T>A | CA380329742 | RAPSN | c.809A>T (p.Asp270Val) c.789+109A>T (n.789+109A>T) c.650A>T (p.Asp217Val) n.18A>T | |
11 | g.47441714T>C | CA380329744 | RAPSN | c.809A>G (p.Asp270Gly) c.789+109A>G (n.789+109A>G) c.650A>G (p.Asp217Gly) n.18A>G | |
11 | g.47441714T>G | CA380329745 | RAPSN | c.809A>C (p.Asp270Ala) c.789+109A>C (n.789+109A>C) c.650A>C (p.Asp217Ala) n.18A>C | |
11 | g.47441715C>A | CA380329746 | RAPSN | c.808G>T (p.Asp270Tyr) c.789+108G>T (n.789+108G>T) c.649G>T (p.Asp217Tyr) n.17G>T | gnomAD v4 |
11 | g.47441715C= | CA1969387608 | RAPSN | c.808G= (p.Asp270=) c.789+108G= (n.789+108G=) c.649G= (p.Asp217=) n.17G= | |
11 | g.47441715C>G | CA380329747 | RAPSN | c.808G>C (p.Asp270His) c.789+108G>C (n.789+108G>C) c.649G>C (p.Asp217His) n.17G>C | |
11 | g.47441715C>T | CA5976618 | RAPSN | c.808G>A (p.Asp270Asn) c.789+108G>A (n.789+108G>A) c.649G>A (p.Asp217Asn) n.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441716G>A | CA5976619 | RAPSN | c.807C>T (p.Tyr269=) c.789+107C>T (n.789+107C>T) c.648C>T (p.Tyr216=) n.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.47441716G>C | CA380329750 | RAPSN | c.807C>G (p.Tyr269Ter) c.789+107C>G (n.789+107C>G) c.648C>G (p.Tyr216Ter) n.16C>G | |
11 | g.47441716G= | CA1969387609 | RAPSN | c.807C= (p.Tyr269=) c.789+107C= (n.789+107C=) c.648C= (p.Tyr216=) n.16C= | |
11 | g.47441716G>T | CA119253 | RAPSN | c.807C>A (p.Tyr269Ter) c.789+107C>A (n.789+107C>A) c.648C>A (p.Tyr216Ter) n.16C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441717T>A | CA380329752 | RAPSN | c.806A>T (p.Tyr269Phe) c.789+106A>T (n.789+106A>T) c.647A>T (p.Tyr216Phe) n.15A>T | gnomAD v4 |
11 | g.47441717T>C | CA380329753 | RAPSN | c.806A>G (p.Tyr269Cys) c.789+106A>G (n.789+106A>G) c.647A>G (p.Tyr216Cys) n.15A>G | |
11 | g.47441717T>G | CA380329756 | RAPSN | c.806A>C (p.Tyr269Ser) c.789+106A>C (n.789+106A>C) c.647A>C (p.Tyr216Ser) n.15A>C | |
11 | g.47441718A>C | CA380329764 | RAPSN | c.805T>G (p.Tyr269Asp) c.789+105T>G (n.789+105T>G) c.646T>G (p.Tyr216Asp) n.14T>G | |
11 | g.47441718A>G | CA380329767 | RAPSN | c.805T>C (p.Tyr269His) c.789+105T>C (n.789+105T>C) c.646T>C (p.Tyr216His) n.14T>C | |
11 | g.47441718A>T | CA380329768 | RAPSN | c.805T>A (p.Tyr269Asn) c.789+105T>A (n.789+105T>A) c.646T>A (p.Tyr216Asn) n.14T>A | |
11 | g.47441719C>A | CA380329769 | RAPSN | c.804G>T (p.Arg268Ser) c.789+104G>T (n.789+104G>T) c.645G>T (p.Arg215Ser) n.13G>T | |
11 | g.47441719C>G | CA380329770 | RAPSN | c.804G>C (p.Arg268Ser) c.789+104G>C (n.789+104G>C) c.645G>C (p.Arg215Ser) n.13G>C | |
11 | g.47441719C>T | CA474218191 | RAPSN | c.804G>A (p.Arg268=) c.789+104G>A (n.789+104G>A) c.645G>A (p.Arg215=) n.13G>A |