| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1759606dup | CA5814243 | CTSD | c.268dup (p.Gln90ProfsTer?) c.163dup (p.Gln55ProfsTer?) c.247dup (p.Gln83ProfsTer?) c.262dup (p.Gln88ProfsTer?) n.2696dup n.663dup c.*129dup (n.*129dup) c.223dup (p.Gln75ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1759606del | CA471988563 | CTSD | c.268del (p.Gln90SerfsTer?) c.163del (p.Gln55SerfsTer?) c.247del (p.Gln83SerfsTer?) c.262del (p.Gln88SerfsTer?) n.2696del n.663del c.*129del (n.*129del) c.223del (p.Gln75SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.1759606G>A | CA379098473 | CTSD | c.262C>T (p.Pro88Ser) c.157C>T (p.Pro53Ser) c.241C>T (p.Pro81Ser) c.256C>T (p.Pro86Ser) n.2690C>T n.657C>T c.*123C>T (n.*123C>T) c.217C>T (p.Pro73Ser) | ClinVar |
| 11 | g.1759606G>C | CA314342 | CTSD | c.262C>G (p.Pro88Ala) c.157C>G (p.Pro53Ala) c.241C>G (p.Pro81Ala) c.256C>G (p.Pro86Ala) n.2690C>G n.657C>G c.*123C>G (n.*123C>G) c.217C>G (p.Pro73Ala) | ClinVar dbSNP |
| 11 | g.1759606G= | CA1947834824 | CTSD | c.262C= (p.Pro88=) c.157C= (p.Pro53=) c.241C= (p.Pro81=) c.256C= (p.Pro86=) n.2690C= n.657C= c.*123C= (n.*123C=) c.217C= (p.Pro73=) | |
| 11 | g.1759606G>T | CA379098477 | CTSD | c.262C>A (p.Pro88Thr) c.157C>A (p.Pro53Thr) c.241C>A (p.Pro81Thr) c.256C>A (p.Pro86Thr) n.2690C>A n.657C>A c.*123C>A (n.*123C>A) c.217C>A (p.Pro73Thr) | gnomAD v4 |
| 11 | g.1759607C>A | CA471988604 | CTSD | c.261G>T (p.Thr87=) c.156G>T (p.Thr52=) c.240G>T (p.Thr80=) c.255G>T (p.Thr85=) n.2689G>T n.656G>T c.*122G>T (n.*122G>T) c.216G>T (p.Thr72=) | |
| 11 | g.1759607C= | CA1947834833 | CTSD | c.261G= (p.Thr87=) c.156G= (p.Thr52=) c.240G= (p.Thr80=) c.255G= (p.Thr85=) n.2689G= n.656G= c.*122G= (n.*122G=) c.216G= (p.Thr72=) | |
| 11 | g.1759607C>G | CA471988607 | CTSD | c.261G>C (p.Thr87=) c.156G>C (p.Thr52=) c.240G>C (p.Thr80=) c.255G>C (p.Thr85=) n.2689G>C n.656G>C c.*122G>C (n.*122G>C) c.216G>C (p.Thr72=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759607C>T | CA290542 | CTSD | c.261G>A (p.Thr87=) c.156G>A (p.Thr52=) c.240G>A (p.Thr80=) c.255G>A (p.Thr85=) n.2689G>A n.656G>A c.*122G>A (n.*122G>A) c.216G>A (p.Thr72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1759608G>A | CA5814244 | CTSD | c.260C>T (p.Thr87Met) c.155C>T (p.Thr52Met) c.239C>T (p.Thr80Met) c.254C>T (p.Thr85Met) n.2688C>T n.655C>T c.*121C>T (n.*121C>T) c.215C>T (p.Thr72Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1759608G>C | CA379098483 | CTSD | c.260C>G (p.Thr87Arg) c.155C>G (p.Thr52Arg) c.239C>G (p.Thr80Arg) c.254C>G (p.Thr85Arg) n.2688C>G n.655C>G c.*121C>G (n.*121C>G) c.215C>G (p.Thr72Arg) | |
| 11 | g.1759608G= | CA1947834839 | CTSD | c.260C= (p.Thr87=) c.155C= (p.Thr52=) c.239C= (p.Thr80=) c.254C= (p.Thr85=) n.2688C= n.655C= c.*121C= (n.*121C=) c.215C= (p.Thr72=) | |
| 11 | g.1759608G>T | CA379098485 | CTSD | c.260C>A (p.Thr87Lys) c.155C>A (p.Thr52Lys) c.239C>A (p.Thr80Lys) c.254C>A (p.Thr85Lys) n.2688C>A n.655C>A c.*121C>A (n.*121C>A) c.215C>A (p.Thr72Lys) | |
| 11 | g.1759609T>A | CA379098492 | CTSD | c.259A>T (p.Thr87Ser) c.154A>T (p.Thr52Ser) c.238A>T (p.Thr80Ser) c.253A>T (p.Thr85Ser) n.2687A>T n.654A>T c.*120A>T (n.*120A>T) c.214A>T (p.Thr72Ser) | |
| 11 | g.1759609T>C | CA379098490 | CTSD | c.259A>G (p.Thr87Ala) c.154A>G (p.Thr52Ala) c.238A>G (p.Thr80Ala) c.253A>G (p.Thr85Ala) n.2687A>G n.654A>G c.*120A>G (n.*120A>G) c.214A>G (p.Thr72Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759609T>G | CA379098488 | CTSD | c.259A>C (p.Thr87Pro) c.154A>C (p.Thr52Pro) c.238A>C (p.Thr80Pro) c.253A>C (p.Thr85Pro) n.2687A>C n.654A>C c.*120A>C (n.*120A>C) c.214A>C (p.Thr72Pro) | |
| 11 | g.1759609T= | CA1947834844 | CTSD | c.259A= (p.Thr87=) c.154A= (p.Thr52=) c.238A= (p.Thr80=) c.253A= (p.Thr85=) n.2687A= n.654A= c.*120A= (n.*120A=) c.214A= (p.Thr72=) | |
| 11 | g.1759610C>A | CA471988620 | CTSD | c.258G>T (p.Gly86=) c.153G>T (p.Gly51=) c.237G>T (p.Gly79=) c.252G>T (p.Gly84=) n.2686G>T n.653G>T c.*119G>T (n.*119G>T) c.213G>T (p.Gly71=) | gnomAD v4 |
| 11 | g.1759610C>G | CA471988623 | CTSD | c.258G>C (p.Gly86=) c.153G>C (p.Gly51=) c.237G>C (p.Gly79=) c.252G>C (p.Gly84=) n.2686G>C n.653G>C c.*119G>C (n.*119G>C) c.213G>C (p.Gly71=) | dbSNP |
| 11 | g.1759610C>T | CA471988618 | CTSD | c.258G>A (p.Gly86=) c.153G>A (p.Gly51=) c.237G>A (p.Gly79=) c.252G>A (p.Gly84=) n.2686G>A n.653G>A c.*119G>A (n.*119G>A) c.213G>A (p.Gly71=) | gnomAD v4 |
| 11 | g.1759611C>A | CA379098495 | CTSD | c.257G>T (p.Gly86Val) c.152G>T (p.Gly51Val) c.236G>T (p.Gly79Val) c.251G>T (p.Gly84Val) n.2685G>T n.652G>T c.*118G>T (n.*118G>T) c.212G>T (p.Gly71Val) | |
| 11 | g.1759611C>G | CA379098497 | CTSD | c.257G>C (p.Gly86Ala) c.152G>C (p.Gly51Ala) c.236G>C (p.Gly79Ala) c.251G>C (p.Gly84Ala) n.2685G>C n.652G>C c.*118G>C (n.*118G>C) c.212G>C (p.Gly71Ala) | |
| 11 | g.1759611C>T | CA379098499 | CTSD | c.257G>A (p.Gly86Glu) c.152G>A (p.Gly51Glu) c.236G>A (p.Gly79Glu) c.251G>A (p.Gly84Glu) n.2685G>A n.652G>A c.*118G>A (n.*118G>A) c.212G>A (p.Gly71Glu) | |
| 11 | g.1759612C>A | CA379098502 | CTSD | c.256G>T (p.Gly86Trp) c.151G>T (p.Gly51Trp) c.235G>T (p.Gly79Trp) c.250G>T (p.Gly84Trp) n.2684G>T n.651G>T c.*117G>T (n.*117G>T) c.211G>T (p.Gly71Trp) | |
| 11 | g.1759612C= | CA1947834846 | CTSD | c.256G= (p.Gly86=) c.151G= (p.Gly51=) c.235G= (p.Gly79=) c.250G= (p.Gly84=) n.2684G= n.651G= c.*117G= (n.*117G=) c.211G= (p.Gly71=) | |
| 11 | g.1759612C>G | CA379098503 | CTSD | c.256G>C (p.Gly86Arg) c.151G>C (p.Gly51Arg) c.235G>C (p.Gly79Arg) c.250G>C (p.Gly84Arg) n.2684G>C n.651G>C c.*117G>C (n.*117G>C) c.211G>C (p.Gly71Arg) | |
| 11 | g.1759612C>T | CA379098506 | CTSD | c.256G>A (p.Gly86Arg) c.151G>A (p.Gly51Arg) c.235G>A (p.Gly79Arg) c.250G>A (p.Gly84Arg) n.2684G>A n.651G>A c.*117G>A (n.*117G>A) c.211G>A (p.Gly71Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759613G>A | CA216175744 | CTSD | c.255C>T (p.Ile85=) c.150C>T (p.Ile50=) c.234C>T (p.Ile78=) c.249C>T (p.Ile83=) n.2683C>T n.650C>T c.*116C>T (n.*116C>T) c.210C>T (p.Ile70=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759613G>C | CA379098510 | CTSD | c.255C>G (p.Ile85Met) c.150C>G (p.Ile50Met) c.234C>G (p.Ile78Met) c.249C>G (p.Ile83Met) n.2683C>G n.650C>G c.*116C>G (n.*116C>G) c.210C>G (p.Ile70Met) | dbSNP |
| 11 | g.1759613G= | CA1947834849 | CTSD | c.255C= (p.Ile85=) c.150C= (p.Ile50=) c.234C= (p.Ile78=) c.249C= (p.Ile83=) n.2683C= n.650C= c.*116C= (n.*116C=) c.210C= (p.Ile70=) | |
| 11 | g.1759613G>T | CA471988635 | CTSD | c.255C>A (p.Ile85=) c.150C>A (p.Ile50=) c.234C>A (p.Ile78=) c.249C>A (p.Ile83=) n.2683C>A n.650C>A c.*116C>A (n.*116C>A) c.210C>A (p.Ile70=) | |
| 11 | g.1759614A>C | CA379098513 | CTSD | c.254T>G (p.Ile85Ser) c.149T>G (p.Ile50Ser) c.233T>G (p.Ile78Ser) c.248T>G (p.Ile83Ser) n.2682T>G n.649T>G c.*115T>G (n.*115T>G) c.209T>G (p.Ile70Ser) | |
| 11 | g.1759614A>G | CA379098514 | CTSD | c.254T>C (p.Ile85Thr) c.149T>C (p.Ile50Thr) c.233T>C (p.Ile78Thr) c.248T>C (p.Ile83Thr) n.2682T>C n.649T>C c.*115T>C (n.*115T>C) c.209T>C (p.Ile70Thr) | |
| 11 | g.1759614A>T | CA379098517 | CTSD | c.254T>A (p.Ile85Asn) c.149T>A (p.Ile50Asn) c.233T>A (p.Ile78Asn) c.248T>A (p.Ile83Asn) n.2682T>A n.649T>A c.*115T>A (n.*115T>A) c.209T>A (p.Ile70Asn) | gnomAD v4 |
| 11 | g.1759615T>A | CA379098520 | CTSD | c.253A>T (p.Ile85Phe) c.148A>T (p.Ile50Phe) c.232A>T (p.Ile78Phe) c.247A>T (p.Ile83Phe) n.2681A>T n.648A>T c.*114A>T (n.*114A>T) c.208A>T (p.Ile70Phe) | |
| 11 | g.1759615T>C | CA379098522 | CTSD | c.253A>G (p.Ile85Val) c.148A>G (p.Ile50Val) c.232A>G (p.Ile78Val) c.247A>G (p.Ile83Val) n.2681A>G n.648A>G c.*114A>G (n.*114A>G) c.208A>G (p.Ile70Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759615T>G | CA379098524 | CTSD | c.253A>C (p.Ile85Leu) c.148A>C (p.Ile50Leu) c.232A>C (p.Ile78Leu) c.247A>C (p.Ile83Leu) n.2681A>C n.648A>C c.*114A>C (n.*114A>C) c.208A>C (p.Ile70Leu) | |
| 11 | g.1759615T= | CA1947834854 | CTSD | c.253A= (p.Ile85=) c.148A= (p.Ile50=) c.232A= (p.Ile78=) c.247A= (p.Ile83=) n.2681A= n.648A= c.*114A= (n.*114A=) c.208A= (p.Ile70=) | |
| 11 | g.1759616G>A | CA471988647 | CTSD | c.252C>T (p.Gly84=) c.147C>T (p.Gly49=) c.231C>T (p.Gly77=) c.246C>T (p.Gly82=) n.2680C>T n.647C>T c.*113C>T (n.*113C>T) c.207C>T (p.Gly69=) | |
| 11 | g.1759616G>C | CA471988649 | CTSD | c.252C>G (p.Gly84=) c.147C>G (p.Gly49=) c.231C>G (p.Gly77=) c.246C>G (p.Gly82=) n.2680C>G n.647C>G c.*113C>G (n.*113C>G) c.207C>G (p.Gly69=) | |
| 11 | g.1759616G>T | CA471988651 | CTSD | c.252C>A (p.Gly84=) c.147C>A (p.Gly49=) c.231C>A (p.Gly77=) c.246C>A (p.Gly82=) n.2680C>A n.647C>A c.*113C>A (n.*113C>A) c.207C>A (p.Gly69=) | |
| 11 | g.1759617C>A | CA379098527 | CTSD | c.251G>T (p.Gly84Val) c.146G>T (p.Gly49Val) c.230G>T (p.Gly77Val) c.245G>T (p.Gly82Val) n.2679G>T n.646G>T c.*112G>T (n.*112G>T) c.206G>T (p.Gly69Val) | dbSNP |
| 11 | g.1759617C= | CA1947834857 | CTSD | c.251G= (p.Gly84=) c.146G= (p.Gly49=) c.230G= (p.Gly77=) c.245G= (p.Gly82=) n.2679G= n.646G= c.*112G= (n.*112G=) c.206G= (p.Gly69=) | |
| 11 | g.1759617C>G | CA379098530 | CTSD | c.251G>C (p.Gly84Ala) c.146G>C (p.Gly49Ala) c.230G>C (p.Gly77Ala) c.245G>C (p.Gly82Ala) n.2679G>C n.646G>C c.*112G>C (n.*112G>C) c.206G>C (p.Gly69Ala) | |
| 11 | g.1759617C>T | CA379098526 | CTSD | c.251G>A (p.Gly84Asp) c.146G>A (p.Gly49Asp) c.230G>A (p.Gly77Asp) c.245G>A (p.Gly82Asp) n.2679G>A n.646G>A c.*112G>A (n.*112G>A) c.206G>A (p.Gly69Asp) | |
| 11 | g.1759618C>A | CA379098532 | CTSD | c.250G>T (p.Gly84Cys) c.145G>T (p.Gly49Cys) c.229G>T (p.Gly77Cys) c.244G>T (p.Gly82Cys) n.2678G>T n.645G>T c.*111G>T (n.*111G>T) c.205G>T (p.Gly69Cys) | |
| 11 | g.1759618C>G | CA379098534 | CTSD | c.250G>C (p.Gly84Arg) c.145G>C (p.Gly49Arg) c.229G>C (p.Gly77Arg) c.244G>C (p.Gly82Arg) n.2678G>C n.645G>C c.*111G>C (n.*111G>C) c.205G>C (p.Gly69Arg) | |
| 11 | g.1759618C>T | CA379098536 | CTSD | c.250G>A (p.Gly84Ser) c.145G>A (p.Gly49Ser) c.229G>A (p.Gly77Ser) c.244G>A (p.Gly82Ser) n.2678G>A n.645G>A c.*111G>A (n.*111G>A) c.205G>A (p.Gly69Ser) | |
| 11 | g.1759619A= | CA1947834861 | CTSD | c.249T= (p.Ile83=) c.144T= (p.Ile48=) c.228T= (p.Ile76=) c.243T= (p.Ile81=) n.2677T= n.644T= c.*110T= (n.*110T=) c.204T= (p.Ile68=) |