Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.1761335_1761349dup | CA597430642 | CTSD | c.194_208dup (p.Glu69_Val70insGlyProIleProGlu) c.89_103dup (p.Glu34_Val35insGlyProIleProGlu) c.194_207+1dup n.2622_2636dup c.*55_*69dup (n.*55_*69dup) c.149_163dup (p.Glu54_Val55insGlyProIleProGlu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761349G>A | CA379099508 | CTSD | c.188C>T (p.Thr63Ile) c.83C>T (p.Thr28Ile) n.2616C>T c.*49C>T (n.*49C>T) c.143C>T (p.Thr48Ile) | |
11 | g.1761349G>C | CA379099509 | CTSD | c.188C>G (p.Thr63Ser) c.83C>G (p.Thr28Ser) n.2616C>G c.*49C>G (n.*49C>G) c.143C>G (p.Thr48Ser) | |
11 | g.1761349G>T | CA379099512 | CTSD | c.188C>A (p.Thr63Asn) c.83C>A (p.Thr28Asn) n.2616C>A c.*49C>A (n.*49C>A) c.143C>A (p.Thr48Asn) | |
11 | g.1761350T>A | CA379099514 | CTSD | c.187A>T (p.Thr63Ser) c.82A>T (p.Thr28Ser) n.2615A>T c.*48A>T (n.*48A>T) c.142A>T (p.Thr48Ser) | |
11 | g.1761350T>C | CA379099515 | CTSD | c.187A>G (p.Thr63Ala) c.82A>G (p.Thr28Ala) n.2615A>G c.*48A>G (n.*48A>G) c.142A>G (p.Thr48Ala) | |
11 | g.1761350T>G | CA379099517 | CTSD | c.187A>C (p.Thr63Pro) c.82A>C (p.Thr28Pro) n.2615A>C c.*48A>C (n.*48A>C) c.142A>C (p.Thr48Pro) | |
11 | g.1761351C>A | CA471994910 | CTSD | c.186G>T (p.Val62=) c.81G>T (p.Val27=) n.2614G>T c.*47G>T (n.*47G>T) c.141G>T (p.Val47=) | gnomAD v4 |
11 | g.1761351C>G | CA471994909 | CTSD | c.186G>C (p.Val62=) c.81G>C (p.Val27=) n.2614G>C c.*47G>C (n.*47G>C) c.141G>C (p.Val47=) | |
11 | g.1761351C>T | CA471994911 | CTSD | c.186G>A (p.Val62=) c.81G>A (p.Val27=) n.2614G>A c.*47G>A (n.*47G>A) c.141G>A (p.Val47=) | |
11 | g.1761352A>C | CA379099519 | CTSD | c.185T>G (p.Val62Gly) c.80T>G (p.Val27Gly) n.2613T>G c.*46T>G (n.*46T>G) c.140T>G (p.Val47Gly) | |
11 | g.1761352A>G | CA379099521 | CTSD | c.185T>C (p.Val62Ala) c.80T>C (p.Val27Ala) n.2613T>C c.*46T>C (n.*46T>C) c.140T>C (p.Val47Ala) | |
11 | g.1761352A>T | CA379099522 | CTSD | c.185T>A (p.Val62Glu) c.80T>A (p.Val27Glu) n.2613T>A c.*46T>A (n.*46T>A) c.140T>A (p.Val47Glu) | |
11 | g.1761353C>A | CA379099525 | CTSD | c.184G>T (p.Val62Leu) c.79G>T (p.Val27Leu) n.2612G>T c.*45G>T (n.*45G>T) c.139G>T (p.Val47Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.1761353C= | CA1947836640 | CTSD | c.184G= (p.Val62=) c.79G= (p.Val27=) n.2612G= c.*45G= (n.*45G=) c.139G= (p.Val47=) | |
11 | g.1761353C>G | CA379099526 | CTSD | c.184G>C (p.Val62Leu) c.79G>C (p.Val27Leu) n.2612G>C c.*45G>C (n.*45G>C) c.139G>C (p.Val47Leu) | |
11 | g.1761353C>T | CA5814274 | CTSD | c.184G>A (p.Val62Met) c.79G>A (p.Val27Met) n.2612G>A c.*45G>A (n.*45G>A) c.139G>A (p.Val47Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761354G>A | CA5814275 | CTSD | c.183C>T (p.Ala61=) c.78C>T (p.Ala26=) n.2611C>T c.*44C>T (n.*44C>T) c.138C>T (p.Ala46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761354G>C | CA471994912 | CTSD | c.183C>G (p.Ala61=) c.78C>G (p.Ala26=) n.2611C>G c.*44C>G (n.*44C>G) c.138C>G (p.Ala46=) | gnomAD v4 |
11 | g.1761354G= | CA1947836648 | CTSD | c.183C= (p.Ala61=) c.78C= (p.Ala26=) n.2611C= c.*44C= (n.*44C=) c.138C= (p.Ala46=) | |
11 | g.1761354G>T | CA471994913 | CTSD | c.183C>A (p.Ala61=) c.78C>A (p.Ala26=) n.2611C>A c.*44C>A (n.*44C>A) c.138C>A (p.Ala46=) | |
11 | g.1761355G>A | CA216180839 | CTSD | c.182C>T (p.Ala61Val) c.77C>T (p.Ala26Val) n.2610C>T c.*43C>T (n.*43C>T) c.137C>T (p.Ala46Val) | ClinVar dbSNP COSMIC |
11 | g.1761355G>C | CA379099531 | CTSD | c.182C>G (p.Ala61Gly) c.77C>G (p.Ala26Gly) n.2610C>G c.*43C>G (n.*43C>G) c.137C>G (p.Ala46Gly) | |
11 | g.1761355G= | CA1947836651 | CTSD | c.182C= (p.Ala61=) c.77C= (p.Ala26=) n.2610C= c.*43C= (n.*43C=) c.137C= (p.Ala46=) | |
11 | g.1761355G>T | CA379099530 | CTSD | c.182C>A (p.Ala61Asp) c.77C>A (p.Ala26Asp) n.2610C>A c.*43C>A (n.*43C>A) c.137C>A (p.Ala46Asp) | |
11 | g.1761356C>A | CA379099534 | CTSD | c.181G>T (p.Ala61Ser) c.76G>T (p.Ala26Ser) n.2609G>T c.*42G>T (n.*42G>T) c.136G>T (p.Ala46Ser) | gnomAD v4 |
11 | g.1761356C>G | CA379099536 | CTSD | c.181G>C (p.Ala61Pro) c.76G>C (p.Ala26Pro) n.2609G>C c.*42G>C (n.*42G>C) c.136G>C (p.Ala46Pro) | |
11 | g.1761356C>T | CA379099541 | CTSD | c.181G>A (p.Ala61Thr) c.76G>A (p.Ala26Thr) n.2609G>A c.*42G>A (n.*42G>A) c.136G>A (p.Ala46Thr) | |
11 | g.1761357T>A | CA471994914 | CTSD | c.180A>T (p.Pro60=) c.75A>T (p.Pro25=) n.2608A>T c.*41A>T (n.*41A>T) c.135A>T (p.Pro45=) | |
11 | g.1761357T>C | CA16613274 | CTSD | c.180A>G (p.Pro60=) c.75A>G (p.Pro25=) n.2608A>G c.*41A>G (n.*41A>G) c.135A>G (p.Pro45=) | ClinVar dbSNP |
11 | g.1761357T>G | CA5814276 | CTSD | c.180A>C (p.Pro60=) c.75A>C (p.Pro25=) n.2608A>C c.*41A>C (n.*41A>C) c.135A>C (p.Pro45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761357T= | CA1947836656 | CTSD | c.180A= (p.Pro60=) c.75A= (p.Pro25=) n.2608A= c.*41A= (n.*41A=) c.135A= (p.Pro45=) | |
11 | g.1761358G>A | CA379099544 | CTSD | c.179C>T (p.Pro60Leu) c.74C>T (p.Pro25Leu) n.2607C>T c.*40C>T (n.*40C>T) c.134C>T (p.Pro45Leu) | |
11 | g.1761358G>C | CA379099546 | CTSD | c.179C>G (p.Pro60Arg) c.74C>G (p.Pro25Arg) n.2607C>G c.*40C>G (n.*40C>G) c.134C>G (p.Pro45Arg) | |
11 | g.1761358G>T | CA379099547 | CTSD | c.179C>A (p.Pro60Gln) c.74C>A (p.Pro25Gln) n.2607C>A c.*40C>A (n.*40C>A) c.134C>A (p.Pro45Gln) | |
11 | g.1761359G>A | CA379099550 | CTSD | c.178C>T (p.Pro60Ser) c.73C>T (p.Pro25Ser) n.2606C>T c.*39C>T (n.*39C>T) c.133C>T (p.Pro45Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761359G>C | CA379099554 | CTSD | c.178C>G (p.Pro60Ala) c.73C>G (p.Pro25Ala) n.2606C>G c.*39C>G (n.*39C>G) c.133C>G (p.Pro45Ala) | |
11 | g.1761359G= | CA1947836661 | CTSD | c.178C= (p.Pro60=) c.73C= (p.Pro25=) n.2606C= c.*39C= (n.*39C=) c.133C= (p.Pro45=) | |
11 | g.1761359G>T | CA379099552 | CTSD | c.178C>A (p.Pro60Thr) c.73C>A (p.Pro25Thr) n.2606C>A c.*39C>A (n.*39C>A) c.133C>A (p.Pro45Thr) | COSMIC |
11 | g.1761360C>A | CA471994916 | CTSD | c.177G>T (p.Val59=) c.72G>T (p.Val24=) n.2605G>T c.*38G>T (n.*38G>T) c.132G>T (p.Val44=) | |
11 | g.1761360C= | CA1947836666 | CTSD | c.177G= (p.Val59=) c.72G= (p.Val24=) n.2605G= c.*38G= (n.*38G=) c.132G= (p.Val44=) | |
11 | g.1761360C>G | CA471994915 | CTSD | c.177G>C (p.Val59=) c.72G>C (p.Val24=) n.2605G>C c.*38G>C (n.*38G>C) c.132G>C (p.Val44=) | |
11 | g.1761360C>T | CA5814277 | CTSD | c.177G>A (p.Val59=) c.72G>A (p.Val24=) n.2605G>A c.*38G>A (n.*38G>A) c.132G>A (p.Val44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761361A>C | CA379099556 | CTSD | c.176T>G (p.Val59Gly) c.71T>G (p.Val24Gly) n.2604T>G c.*37T>G (n.*37T>G) c.131T>G (p.Val44Gly) | |
11 | g.1761361A>G | CA379099559 | CTSD | c.176T>C (p.Val59Ala) c.71T>C (p.Val24Ala) n.2604T>C c.*37T>C (n.*37T>C) c.131T>C (p.Val44Ala) | |
11 | g.1761361A>T | CA379099560 | CTSD | c.176T>A (p.Val59Glu) c.71T>A (p.Val24Glu) n.2604T>A c.*37T>A (n.*37T>A) c.131T>A (p.Val44Glu) | |
11 | g.1761362C>A | CA379099566 | CTSD | c.175G>T (p.Val59Leu) c.70G>T (p.Val24Leu) n.2603G>T c.*36G>T (n.*36G>T) c.130G>T (p.Val44Leu) | |
11 | g.1761362C>G | CA379099562 | CTSD | c.175G>C (p.Val59Leu) c.70G>C (p.Val24Leu) n.2603G>C c.*36G>C (n.*36G>C) c.130G>C (p.Val44Leu) | |
11 | g.1761362C>T | CA379099564 | CTSD | c.175G>A (p.Val59Met) c.70G>A (p.Val24Met) n.2603G>A c.*36G>A (n.*36G>A) c.130G>A (p.Val44Met) | |
11 | g.1761363C>A | CA216180859 | CTSD | c.174G>T (p.Ala58=) c.69G>T (p.Ala23=) n.2602G>T c.*35G>T (n.*35G>T) c.129G>T (p.Ala43=) | dbSNP gnomAD v4 |
11 | g.1761363C= | CA1947836674 | CTSD | c.174G= (p.Ala58=) c.69G= (p.Ala23=) n.2602G= c.*35G= (n.*35G=) c.129G= (p.Ala43=) | |
11 | g.1761363C>G | CA471994917 | CTSD | c.174G>C (p.Ala58=) c.69G>C (p.Ala23=) n.2602G>C c.*35G>C (n.*35G>C) c.129G>C (p.Ala43=) | |
11 | g.1761363C>T | CA5814278 | CTSD | c.174G>A (p.Ala58=) c.69G>A (p.Ala23=) n.2602G>A c.*35G>A (n.*35G>A) c.129G>A (p.Ala43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761364G>A | CA288797 | CTSD | c.173C>T (p.Ala58Val) c.68C>T (p.Ala23Val) n.2601C>T c.*34C>T (n.*34C>T) c.128C>T (p.Ala43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761364G>C | CA379099572 | CTSD | c.173C>G (p.Ala58Gly) c.68C>G (p.Ala23Gly) n.2601C>G c.*34C>G (n.*34C>G) c.128C>G (p.Ala43Gly) | |
11 | g.1761364G= | CA1947836679 | CTSD | c.173C= (p.Ala58=) c.68C= (p.Ala23=) n.2601C= c.*34C= (n.*34C=) c.128C= (p.Ala43=) | |
11 | g.1761364G>T | CA379099575 | CTSD | c.173C>A (p.Ala58Glu) c.68C>A (p.Ala23Glu) n.2601C>A c.*34C>A (n.*34C>A) c.128C>A (p.Ala43Glu) | ClinVar |
11 | g.1761365C>A | CA379099576 | CTSD | c.172G>T (p.Ala58Ser) c.67G>T (p.Ala23Ser) n.2600G>T c.*33G>T (n.*33G>T) c.127G>T (p.Ala43Ser) | |
11 | g.1761365C>G | CA379099577 | CTSD | c.172G>C (p.Ala58Pro) c.67G>C (p.Ala23Pro) n.2600G>C c.*33G>C (n.*33G>C) c.127G>C (p.Ala43Pro) | |
11 | g.1761365C>T | CA379099578 | CTSD | c.172G>A (p.Ala58Thr) c.67G>A (p.Ala23Thr) n.2600G>A c.*33G>A (n.*33G>A) c.127G>A (p.Ala43Thr) | |
11 | g.1761366C>A | CA379099580 | CTSD | c.171G>T (p.Gln57His) c.66G>T (p.Gln22His) n.2599G>T c.*32G>T (n.*32G>T) c.126G>T (p.Gln42His) | |
11 | g.1761366C>G | CA379099582 | CTSD | c.171G>C (p.Gln57His) c.66G>C (p.Gln22His) n.2599G>C c.*32G>C (n.*32G>C) c.126G>C (p.Gln42His) | |
11 | g.1761366C>T | CA471994918 | CTSD | c.171G>A (p.Gln57=) c.66G>A (p.Gln22=) n.2599G>A c.*32G>A (n.*32G>A) c.126G>A (p.Gln42=) | |
11 | g.1761367T>A | CA379099585 | CTSD | c.170A>T (p.Gln57Leu) c.65A>T (p.Gln22Leu) n.2598A>T c.*31A>T (n.*31A>T) c.125A>T (p.Gln42Leu) | |
11 | g.1761367T>C | CA379099589 | CTSD | c.170A>G (p.Gln57Arg) c.65A>G (p.Gln22Arg) n.2598A>G c.*31A>G (n.*31A>G) c.125A>G (p.Gln42Arg) | |
11 | g.1761367T>G | CA379099591 | CTSD | c.170A>C (p.Gln57Pro) c.65A>C (p.Gln22Pro) n.2598A>C c.*31A>C (n.*31A>C) c.125A>C (p.Gln42Pro) | gnomAD v4 |
11 | g.1761368G>A | CA379099592 | CTSD | c.169C>T (p.Gln57Ter) c.64C>T (p.Gln22Ter) n.2597C>T c.*30C>T (n.*30C>T) c.124C>T (p.Gln42Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761368G>C | CA379099595 | CTSD | c.169C>G (p.Gln57Glu) c.64C>G (p.Gln22Glu) n.2597C>G c.*30C>G (n.*30C>G) c.124C>G (p.Gln42Glu) | |
11 | g.1761368G= | CA1947836684 | CTSD | c.169C= (p.Gln57=) c.64C= (p.Gln22=) n.2597C= c.*30C= (n.*30C=) c.124C= (p.Gln42=) | |
11 | g.1761368G>T | CA379099593 | CTSD | c.169C>A (p.Gln57Lys) c.64C>A (p.Gln22Lys) n.2597C>A c.*30C>A (n.*30C>A) c.124C>A (p.Gln42Lys) | gnomAD v4 |
11 | g.1761369G>A | CA471994920 | CTSD | c.168C>T (p.Ser56=) c.63C>T (p.Ser21=) n.2596C>T c.*29C>T (n.*29C>T) c.123C>T (p.Ser41=) | |
11 | g.1761369G>C | CA471994921 | CTSD | c.168C>G (p.Ser56=) c.63C>G (p.Ser21=) n.2596C>G c.*29C>G (n.*29C>G) c.123C>G (p.Ser41=) | ClinVar |
11 | g.1761369G>T | CA471994922 | CTSD | c.168C>A (p.Ser56=) c.63C>A (p.Ser21=) n.2596C>A c.*29C>A (n.*29C>A) c.123C>A (p.Ser41=) | |
11 | g.1761370G>A | CA379099597 | CTSD | c.167C>T (p.Ser56Phe) c.62C>T (p.Ser21Phe) n.2595C>T c.*28C>T (n.*28C>T) c.122C>T (p.Ser41Phe) | dbSNP gnomAD v2 |
11 | g.1761370G>C | CA379099602 | CTSD | c.167C>G (p.Ser56Cys) c.62C>G (p.Ser21Cys) n.2595C>G c.*28C>G (n.*28C>G) c.122C>G (p.Ser41Cys) | |
11 | g.1761370G= | CA1947836689 | CTSD | c.167C= (p.Ser56=) c.62C= (p.Ser21=) n.2595C= c.*28C= (n.*28C=) c.122C= (p.Ser41=) | |
11 | g.1761370G>T | CA379099600 | CTSD | c.167C>A (p.Ser56Tyr) c.62C>A (p.Ser21Tyr) n.2595C>A c.*28C>A (n.*28C>A) c.122C>A (p.Ser41Tyr) | |
11 | g.1761371del | CA2574770627 | CTSD | c.166del (p.Ser56ProfsTer7) c.61del (p.Ser21ProfsTer7) n.2594del c.*27del (n.*27del) c.121del (p.Ser41ProfsTer7) | |
11 | g.1761371A>C | CA379099605 | CTSD | c.166T>G (p.Ser56Ala) c.61T>G (p.Ser21Ala) n.2594T>G c.*27T>G (n.*27T>G) c.121T>G (p.Ser41Ala) | |
11 | g.1761371A>G | CA379099606 | CTSD | c.166T>C (p.Ser56Pro) c.61T>C (p.Ser21Pro) n.2594T>C c.*27T>C (n.*27T>C) c.121T>C (p.Ser41Pro) | ClinVar gnomAD v4 |
11 | g.1761371A>T | CA379099608 | CTSD | c.166T>A (p.Ser56Thr) c.61T>A (p.Ser21Thr) n.2594T>A c.*27T>A (n.*27T>A) c.121T>A (p.Ser41Thr) | |
11 | g.1761372G>A | CA471994923 | CTSD | c.165C>T (p.Tyr55=) c.60C>T (p.Tyr20=) n.2593C>T c.*26C>T (n.*26C>T) c.120C>T (p.Tyr40=) | ClinVar |
11 | g.1761372G>C | CA379099612 | CTSD | c.165C>G (p.Tyr55Ter) c.60C>G (p.Tyr20Ter) n.2593C>G c.*26C>G (n.*26C>G) c.120C>G (p.Tyr40Ter) | |
11 | g.1761372G>T | CA379099615 | CTSD | c.165C>A (p.Tyr55Ter) c.60C>A (p.Tyr20Ter) n.2593C>A c.*26C>A (n.*26C>A) c.120C>A (p.Tyr40Ter) | |
11 | g.1761373T>A | CA379099618 | CTSD | c.164A>T (p.Tyr55Phe) c.59A>T (p.Tyr20Phe) n.2592A>T c.*25A>T (n.*25A>T) c.119A>T (p.Tyr40Phe) | |
11 | g.1761373T>C | CA379099620 | CTSD | c.164A>G (p.Tyr55Cys) c.59A>G (p.Tyr20Cys) n.2592A>G c.*25A>G (n.*25A>G) c.119A>G (p.Tyr40Cys) | |
11 | g.1761373T>G | CA379099622 | CTSD | c.164A>C (p.Tyr55Ser) c.59A>C (p.Tyr20Ser) n.2592A>C c.*25A>C (n.*25A>C) c.119A>C (p.Tyr40Ser) | |
11 | g.1761374A>C | CA379099626 | CTSD | c.163T>G (p.Tyr55Asp) c.58T>G (p.Tyr20Asp) n.2591T>G c.*24T>G (n.*24T>G) c.118T>G (p.Tyr40Asp) | |
11 | g.1761374A>G | CA379099629 | CTSD | c.163T>C (p.Tyr55His) c.58T>C (p.Tyr20His) n.2591T>C c.*24T>C (n.*24T>C) c.118T>C (p.Tyr40His) | |
11 | g.1761374A>T | CA379099631 | CTSD | c.163T>A (p.Tyr55Asn) c.58T>A (p.Tyr20Asn) n.2591T>A c.*24T>A (n.*24T>A) c.118T>A (p.Tyr40Asn) | |
11 | g.1761375C>A | CA379099640 | CTSD | c.162G>T (p.Lys54Asn) c.57G>T (p.Lys19Asn) n.2590G>T c.*23G>T (n.*23G>T) c.117G>T (p.Lys39Asn) | |
11 | g.1761375C= | CA1947836692 | CTSD | c.162G= (p.Lys54=) c.57G= (p.Lys19=) n.2590G= c.*23G= (n.*23G=) c.117G= (p.Lys39=) | |
11 | g.1761375C>G | CA379099637 | CTSD | c.162G>C (p.Lys54Asn) c.57G>C (p.Lys19Asn) n.2590G>C c.*23G>C (n.*23G>C) c.117G>C (p.Lys39Asn) | |
11 | g.1761375C>T | CA5814279 | CTSD | c.162G>A (p.Lys54=) c.57G>A (p.Lys19=) n.2590G>A c.*23G>A (n.*23G>A) c.117G>A (p.Lys39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761376T>A | CA379099641 | CTSD | c.161A>T (p.Lys54Met) c.56A>T (p.Lys19Met) n.2589A>T c.*22A>T (n.*22A>T) c.116A>T (p.Lys39Met) | |
11 | g.1761376T>C | CA379099645 | CTSD | c.161A>G (p.Lys54Arg) c.56A>G (p.Lys19Arg) n.2589A>G c.*22A>G (n.*22A>G) c.116A>G (p.Lys39Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.1761376T>G | CA379099648 | CTSD | c.161A>C (p.Lys54Thr) c.56A>C (p.Lys19Thr) n.2589A>C c.*22A>C (n.*22A>C) c.116A>C (p.Lys39Thr) | |
11 | g.1761376T= | CA1947836694 | CTSD | c.161A= (p.Lys54=) c.56A= (p.Lys19=) n.2589A= c.*22A= (n.*22A=) c.116A= (p.Lys39=) | |
11 | g.1761377T>A | CA379099652 | CTSD | c.160A>T (p.Lys54Ter) c.55A>T (p.Lys19Ter) n.2588A>T c.*21A>T (n.*21A>T) c.115A>T (p.Lys39Ter) | |
11 | g.1761377T>C | CA379099655 | CTSD | c.160A>G (p.Lys54Glu) c.55A>G (p.Lys19Glu) n.2588A>G c.*21A>G (n.*21A>G) c.115A>G (p.Lys39Glu) | |
11 | g.1761377T>G | CA379099656 | CTSD | c.160A>C (p.Lys54Gln) c.55A>C (p.Lys19Gln) n.2588A>C c.*21A>C (n.*21A>C) c.115A>C (p.Lys39Gln) | |
11 | g.1761378T>A | CA471994924 | CTSD | c.159A>T (p.Ser53=) c.54A>T (p.Ser18=) n.2587A>T c.*20A>T (n.*20A>T) c.114A>T (p.Ser38=) | |
11 | g.1761378T>C | CA471994925 | CTSD | c.159A>G (p.Ser53=) c.54A>G (p.Ser18=) n.2587A>G c.*20A>G (n.*20A>G) c.114A>G (p.Ser38=) | |
11 | g.1761378T>G | CA471994926 | CTSD | c.159A>C (p.Ser53=) c.54A>C (p.Ser18=) n.2587A>C c.*20A>C (n.*20A>C) c.114A>C (p.Ser38=) | |
11 | g.1761379G>A | CA379099657 | CTSD | c.158C>T (p.Ser53Leu) c.53C>T (p.Ser18Leu) n.2586C>T c.*19C>T (n.*19C>T) c.113C>T (p.Ser38Leu) | |
11 | g.1761379G>C | CA379099658 | CTSD | c.158C>G (p.Ser53Ter) c.53C>G (p.Ser18Ter) n.2586C>G c.*19C>G (n.*19C>G) c.113C>G (p.Ser38Ter) | |
11 | g.1761379G>T | CA379099659 | CTSD | c.158C>A (p.Ser53Ter) c.53C>A (p.Ser18Ter) n.2586C>A c.*19C>A (n.*19C>A) c.113C>A (p.Ser38Ter) | |
11 | g.1761380A>C | CA379099662 | CTSD | c.157T>G (p.Ser53Ala) c.52T>G (p.Ser18Ala) n.2585T>G c.*18T>G (n.*18T>G) c.112T>G (p.Ser38Ala) | |
11 | g.1761380A>G | CA379099663 | CTSD | c.157T>C (p.Ser53Pro) c.52T>C (p.Ser18Pro) n.2585T>C c.*18T>C (n.*18T>C) c.112T>C (p.Ser38Pro) | |
11 | g.1761380A>T | CA379099666 | CTSD | c.157T>A (p.Ser53Thr) c.52T>A (p.Ser18Thr) n.2585T>A c.*18T>A (n.*18T>A) c.112T>A (p.Ser38Thr) | |
11 | g.1761381G>A | CA471994928 | CTSD | c.156C>T (p.Val52=) c.51C>T (p.Val17=) n.2584C>T c.*17C>T (n.*17C>T) c.111C>T (p.Val37=) | gnomAD v4 |
11 | g.1761381G>C | CA471994929 | CTSD | c.156C>G (p.Val52=) c.51C>G (p.Val17=) n.2584C>G c.*17C>G (n.*17C>G) c.111C>G (p.Val37=) | |
11 | g.1761381G>T | CA471994927 | CTSD | c.156C>A (p.Val52=) c.51C>A (p.Val17=) n.2584C>A c.*17C>A (n.*17C>A) c.111C>A (p.Val37=) | |
11 | g.1761382A>C | CA379099686 | CTSD | c.155T>G (p.Val52Gly) c.50T>G (p.Val17Gly) n.2583T>G c.*16T>G (n.*16T>G) c.110T>G (p.Val37Gly) | |
11 | g.1761382A>G | CA379099678 | CTSD | c.155T>C (p.Val52Ala) c.50T>C (p.Val17Ala) n.2583T>C c.*16T>C (n.*16T>C) c.110T>C (p.Val37Ala) | |
11 | g.1761382A>T | CA379099676 | CTSD | c.155T>A (p.Val52Asp) c.50T>A (p.Val17Asp) n.2583T>A c.*16T>A (n.*16T>A) c.110T>A (p.Val37Asp) | |
11 | g.1761383C>A | CA379099689 | CTSD | c.154G>T (p.Val52Phe) c.49G>T (p.Val17Phe) n.2582G>T c.*15G>T (n.*15G>T) c.109G>T (p.Val37Phe) | COSMIC |
11 | g.1761383C= | CA1947836700 | CTSD | c.154G= (p.Val52=) c.49G= (p.Val17=) n.2582G= c.*15G= (n.*15G=) c.109G= (p.Val37=) | |
11 | g.1761383C>G | CA379099691 | CTSD | c.154G>C (p.Val52Leu) c.49G>C (p.Val17Leu) n.2582G>C c.*15G>C (n.*15G>C) c.109G>C (p.Val37Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.1761383C>T | CA314312 | CTSD | c.154G>A (p.Val52Ile) c.49G>A (p.Val17Ile) n.2582G>A c.*15G>A (n.*15G>A) c.109G>A (p.Val37Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761383_1761384delinsCG | CA1947836699 | CTSD | c.153_154delinsCG (p.Pro51=) c.48_49delinsCG (p.Pro16=) n.2581_2582delinsCG c.*14_*15delinsCG (n.*14_*15delinsCG) c.108_109delinsCG (p.Pro36=) | |
11 | g.1761384G>A | CA290535 | CTSD | c.153C>T (p.Pro51=) c.48C>T (p.Pro16=) n.2581C>T c.*14C>T (n.*14C>T) c.108C>T (p.Pro36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761384G>C | CA471994931 | CTSD | c.153C>G (p.Pro51=) c.48C>G (p.Pro16=) n.2581C>G c.*14C>G (n.*14C>G) c.108C>G (p.Pro36=) | gnomAD v4 |
11 | g.1761384G= | CA1947836708 | CTSD | c.153C= (p.Pro51=) c.48C= (p.Pro16=) n.2581C= c.*14C= (n.*14C=) c.108C= (p.Pro36=) | |
11 | g.1761384G>T | CA471994930 | CTSD | c.153C>A (p.Pro51=) c.48C>A (p.Pro16=) n.2581C>A c.*14C>A (n.*14C>A) c.108C>A (p.Pro36=) | |
11 | g.1761387dup | CA216180897 | CTSD | c.153dup (p.Val52ArgfsTer?) c.48dup (p.Val17ArgfsTer?) n.2581dup c.*14dup (n.*14dup) c.108dup (p.Val37ArgfsTer?) | dbSNP gnomAD v4 |
11 | g.1761387del | CA597430643 | CTSD | c.153del (p.Val52SerfsTer11) c.48del (p.Val17SerfsTer11) n.2581del c.*14del (n.*14del) c.108del (p.Val37SerfsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761385G>A | CA379099701 | CTSD | c.152C>T (p.Pro51Leu) c.47C>T (p.Pro16Leu) n.2580C>T c.*13C>T (n.*13C>T) c.107C>T (p.Pro36Leu) | |
11 | g.1761385G>C | CA379099703 | CTSD | c.152C>G (p.Pro51Arg) c.47C>G (p.Pro16Arg) n.2580C>G c.*13C>G (n.*13C>G) c.107C>G (p.Pro36Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.1761385G>T | CA379099705 | CTSD | c.152C>A (p.Pro51His) c.47C>A (p.Pro16His) n.2580C>A c.*13C>A (n.*13C>A) c.107C>A (p.Pro36His) | |
11 | g.1761386G>A | CA379099708 | CTSD | c.151C>T (p.Pro51Ser) c.46C>T (p.Pro16Ser) n.2579C>T c.*12C>T (n.*12C>T) c.106C>T (p.Pro36Ser) | gnomAD v4 |
11 | g.1761386G>C | CA379099712 | CTSD | c.151C>G (p.Pro51Ala) c.46C>G (p.Pro16Ala) n.2579C>G c.*12C>G (n.*12C>G) c.106C>G (p.Pro36Ala) | dbSNP COSMIC |
11 | g.1761386G= | CA1947836713 | CTSD | c.151C= (p.Pro51=) c.46C= (p.Pro16=) n.2579C= c.*12C= (n.*12C=) c.106C= (p.Pro36=) | |
11 | g.1761386G>T | CA379099710 | CTSD | c.151C>A (p.Pro51Thr) c.46C>A (p.Pro16Thr) n.2579C>A c.*12C>A (n.*12C>A) c.106C>A (p.Pro36Thr) | |
11 | g.1761387G>A | CA5814280 | CTSD | c.150C>T (p.Gly50=) c.45C>T (p.Gly15=) n.2578C>T c.*11C>T (n.*11C>T) c.105C>T (p.Gly35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761387G>C | CA471994932 | CTSD | c.150C>G (p.Gly50=) c.45C>G (p.Gly15=) n.2578C>G c.*11C>G (n.*11C>G) c.105C>G (p.Gly35=) | gnomAD v4 |
11 | g.1761387G= | CA1947836717 | CTSD | c.150C= (p.Gly50=) c.45C= (p.Gly15=) n.2578C= c.*11C= (n.*11C=) c.105C= (p.Gly35=) | |
11 | g.1761387G>T | CA471994933 | CTSD | c.150C>A (p.Gly50=) c.45C>A (p.Gly15=) n.2578C>A c.*11C>A (n.*11C>A) c.105C>A (p.Gly35=) | |
11 | g.1761388C>A | CA379099716 | CTSD | c.149G>T (p.Gly50Val) c.44G>T (p.Gly15Val) n.2577G>T c.*10G>T (n.*10G>T) c.104G>T (p.Gly35Val) | |
11 | g.1761388C>G | CA379099718 | CTSD | c.149G>C (p.Gly50Ala) c.44G>C (p.Gly15Ala) n.2577G>C c.*10G>C (n.*10G>C) c.104G>C (p.Gly35Ala) | |
11 | g.1761388C>T | CA379099719 | CTSD | c.149G>A (p.Gly50Asp) c.44G>A (p.Gly15Asp) n.2577G>A c.*10G>A (n.*10G>A) c.104G>A (p.Gly35Asp) | gnomAD v4 COSMIC |
11 | g.1761389C>A | CA379099722 | CTSD | c.148G>T (p.Gly50Cys) c.43G>T (p.Gly15Cys) n.2576G>T c.*9G>T (n.*9G>T) c.103G>T (p.Gly35Cys) | |
11 | g.1761389C>G | CA379099731 | CTSD | c.148G>C (p.Gly50Arg) c.43G>C (p.Gly15Arg) n.2576G>C c.*9G>C (n.*9G>C) c.103G>C (p.Gly35Arg) | gnomAD v4 |
11 | g.1761389C>T | CA379099729 | CTSD | c.148G>A (p.Gly50Ser) c.43G>A (p.Gly15Ser) n.2576G>A c.*9G>A (n.*9G>A) c.103G>A (p.Gly35Ser) | |
11 | g.1761390T>A | CA379099734 | CTSD | c.147A>T (p.Lys49Asn) c.42A>T (p.Lys14Asn) n.2575A>T c.*8A>T (n.*8A>T) c.102A>T (p.Lys34Asn) | |
11 | g.1761390T>C | CA471994934 | CTSD | c.147A>G (p.Lys49=) c.42A>G (p.Lys14=) n.2575A>G c.*8A>G (n.*8A>G) c.102A>G (p.Lys34=) | |
11 | g.1761390T>G | CA379099735 | CTSD | c.147A>C (p.Lys49Asn) c.42A>C (p.Lys14Asn) n.2575A>C c.*8A>C (n.*8A>C) c.102A>C (p.Lys34Asn) | |
11 | g.1761391T>A | CA379099737 | CTSD | c.146A>T (p.Lys49Ile) c.41A>T (p.Lys14Ile) n.2574A>T c.*7A>T (n.*7A>T) c.101A>T (p.Lys34Ile) | |
11 | g.1761391T>C | CA379099740 | CTSD | c.146A>G (p.Lys49Arg) c.41A>G (p.Lys14Arg) n.2574A>G c.*7A>G (n.*7A>G) c.101A>G (p.Lys34Arg) | |
11 | g.1761391T>G | CA379099744 | CTSD | c.146A>C (p.Lys49Thr) c.41A>C (p.Lys14Thr) n.2574A>C c.*7A>C (n.*7A>C) c.101A>C (p.Lys34Thr) | |
11 | g.1761392T>A | CA379099745 | CTSD | c.145A>T (p.Lys49Ter) c.40A>T (p.Lys14Ter) n.2573A>T c.*6A>T (n.*6A>T) c.100A>T (p.Lys34Ter) | |
11 | g.1761392T>C | CA379099747 | CTSD | c.145A>G (p.Lys49Glu) c.40A>G (p.Lys14Glu) n.2573A>G c.*6A>G (n.*6A>G) c.100A>G (p.Lys34Glu) | |
11 | g.1761392T>G | CA379099752 | CTSD | c.145A>C (p.Lys49Gln) c.40A>C (p.Lys14Gln) n.2573A>C c.*6A>C (n.*6A>C) c.100A>C (p.Lys34Gln) | gnomAD v4 |
11 | g.1761393G>A | CA216180908 | CTSD | c.144C>T (p.Ala48=) c.39C>T (p.Ala13=) n.2572C>T c.*5C>T (n.*5C>T) c.99C>T (p.Ala33=) | dbSNP |
11 | g.1761393G>C | CA471994935 | CTSD | c.144C>G (p.Ala48=) c.39C>G (p.Ala13=) n.2572C>G c.*5C>G (n.*5C>G) c.99C>G (p.Ala33=) | |
11 | g.1761393G= | CA1947836721 | CTSD | c.144C= (p.Ala48=) c.39C= (p.Ala13=) n.2572C= c.*5C= (n.*5C=) c.99C= (p.Ala33=) | |
11 | g.1761393G>T | CA471994936 | CTSD | c.144C>A (p.Ala48=) c.39C>A (p.Ala13=) n.2572C>A c.*5C>A (n.*5C>A) c.99C>A (p.Ala33=) | |
11 | g.1761394G>A | CA379099756 | CTSD | c.143C>T (p.Ala48Val) c.38C>T (p.Ala13Val) n.2571C>T c.*4C>T (n.*4C>T) c.98C>T (p.Ala33Val) | |
11 | g.1761394G>C | CA379099759 | CTSD | c.143C>G (p.Ala48Gly) c.38C>G (p.Ala13Gly) n.2571C>G c.*4C>G (n.*4C>G) c.98C>G (p.Ala33Gly) | |
11 | g.1761394G>T | CA379099764 | CTSD | c.143C>A (p.Ala48Asp) c.38C>A (p.Ala13Asp) n.2571C>A c.*4C>A (n.*4C>A) c.98C>A (p.Ala33Asp) | COSMIC |
11 | g.1761395C>A | CA379099766 | CTSD | c.142G>T (p.Ala48Ser) c.37G>T (p.Ala13Ser) n.2570G>T c.*3G>T (n.*3G>T) c.97G>T (p.Ala33Ser) | |
11 | g.1761395C= | CA1947836726 | CTSD | c.142G= (p.Ala48=) c.37G= (p.Ala13=) n.2570G= c.*3G= (n.*3G=) c.97G= (p.Ala33=) | |
11 | g.1761395C>G | CA379099769 | CTSD | c.142G>C (p.Ala48Pro) c.37G>C (p.Ala13Pro) n.2570G>C c.*3G>C (n.*3G>C) c.97G>C (p.Ala33Pro) | |
11 | g.1761395C>T | CA5814281 | CTSD | c.142G>A (p.Ala48Thr) c.37G>A (p.Ala13Thr) n.2570G>A c.*3G>A (n.*3G>A) c.97G>A (p.Ala33Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761396A= | CA1947836731 | CTSD | c.141T= (p.Ile47=) c.36T= (p.Ile12=) n.2569T= c.*2T= (n.*2T=) c.96T= (p.Ile32=) | |
11 | g.1761396A>C | CA379099770 | CTSD | c.141T>G (p.Ile47Met) c.36T>G (p.Ile12Met) n.2569T>G c.*2T>G (n.*2T>G) c.96T>G (p.Ile32Met) | ClinVar dbSNP |
11 | g.1761396A>G | CA471994937 | CTSD | c.141T>C (p.Ile47=) c.36T>C (p.Ile12=) n.2569T>C c.*2T>C (n.*2T>C) c.96T>C (p.Ile32=) | ClinVar |
11 | g.1761396A>T | CA216180917 | CTSD | c.141T>A (p.Ile47=) c.36T>A (p.Ile12=) n.2569T>A c.*2T>A (n.*2T>A) c.96T>A (p.Ile32=) | dbSNP |
11 | g.1761397A= | CA1947836734 | CTSD | c.140T= (p.Ile47=) c.35T= (p.Ile12=) n.2568T= c.*1T= (n.*1T=) c.95T= (p.Ile32=) | |
11 | g.1761397A>C | CA379099773 | CTSD | c.140T>G (p.Ile47Ser) c.35T>G (p.Ile12Ser) n.2568T>G c.*1T>G (n.*1T>G) c.95T>G (p.Ile32Ser) | |
11 | g.1761397A>G | CA216180935 | CTSD | c.140T>C (p.Ile47Thr) c.35T>C (p.Ile12Thr) n.2568T>C c.*1T>C (n.*1T>C) c.95T>C (p.Ile32Thr) | dbSNP gnomAD v4 |
11 | g.1761397A>T | CA379099778 | CTSD | c.140T>A (p.Ile47Asn) c.35T>A (p.Ile12Asn) n.2568T>A c.*1T>A (n.*1T>A) c.95T>A (p.Ile32Asn) | dbSNP |
11 | g.1761398T>A | CA379099783 | CTSD | c.139A>T (p.Ile47Phe) c.34A>T (p.Ile12Phe) n.2567A>T c.282A>T (p.Ter94Cys) c.94A>T (p.Ile32Phe) | gnomAD v4 |
11 | g.1761398T>C | CA379099785 | CTSD | c.139A>G (p.Ile47Val) c.34A>G (p.Ile12Val) n.2567A>G c.282A>G (p.Ter94Trp) c.94A>G (p.Ile32Val) | |
11 | g.1761398T>G | CA379099789 | CTSD | c.139A>C (p.Ile47Leu) c.34A>C (p.Ile12Leu) n.2567A>C c.282A>C (p.Ter94Cys) c.94A>C (p.Ile32Leu) | |
11 | g.1761399C>A | CA471994939 | CTSD | c.138G>T (p.Leu46=) c.33G>T (p.Leu11=) n.2566G>T c.281G>T (p.Ter94Leu) c.93G>T (p.Leu31=) | |
11 | g.1761399C= | CA1947836739 | CTSD | c.138G= (p.Leu46=) c.33G= (p.Leu11=) n.2566G= c.281G= (p.Ter94=) c.93G= (p.Leu31=) | |
11 | g.1761399C>G | CA471994938 | CTSD | c.138G>C (p.Leu46=) c.33G>C (p.Leu11=) n.2566G>C c.281G>C (p.Ter94Ser) c.93G>C (p.Leu31=) | |
11 | g.1761399C>T | CA471994940 | CTSD | c.138G>A (p.Leu46=) c.33G>A (p.Leu11=) n.2566G>A c.281G>A (p.Ter94=) c.93G>A (p.Leu31=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761400A= | CA1947836743 | CTSD | c.137T= (p.Leu46=) c.32T= (p.Leu11=) n.2565T= c.280T= (p.Ter94=) c.92T= (p.Leu31=) | |
11 | g.1761400A>C | CA379099792 | CTSD | c.137T>G (p.Leu46Arg) c.32T>G (p.Leu11Arg) n.2565T>G c.280T>G (p.Ter94Gly) c.92T>G (p.Leu31Arg) | gnomAD v4 |
11 | g.1761400A>G | CA379099795 | CTSD | c.137T>C (p.Leu46Pro) c.32T>C (p.Leu11Pro) n.2565T>C c.280T>C (p.Ter94Arg) c.92T>C (p.Leu31Pro) | dbSNP |
11 | g.1761400A>T | CA379099798 | CTSD | c.137T>A (p.Leu46Gln) c.32T>A (p.Leu11Gln) n.2565T>A c.280T>A (p.Ter94Arg) c.92T>A (p.Leu31Gln) | |
11 | g.1761401G>A | CA471994941 | CTSD | c.136C>T (p.Leu46=) c.31C>T (p.Leu11=) n.2564C>T c.279C>T (p.Thr93=) c.91C>T (p.Leu31=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.1761401G>C | CA379099806 | CTSD | c.136C>G (p.Leu46Val) c.31C>G (p.Leu11Val) n.2564C>G c.279C>G (p.Thr93=) c.91C>G (p.Leu31Val) | |
11 | g.1761401G= | CA1947836749 | CTSD | c.136C= (p.Leu46=) c.31C= (p.Leu11=) n.2564C= c.279C= (p.Thr93=) c.91C= (p.Leu31=) | |
11 | g.1761401G>T | CA379099808 | CTSD | c.136C>A (p.Leu46Met) c.31C>A (p.Leu11Met) n.2564C>A c.279C>A (p.Thr93=) c.91C>A (p.Leu31Met) | gnomAD v4 |
11 | g.1761403_1761441dup | CA5814282 | CTSD | c.98_136dup (p.Asp45_Leu46insArgArgThrMetSerGluValGlyGlySerValGluAsp) c.-8_31dup (p.Asp10_Leu11insArgArgThrMetSerGluValGlyGlySerValGluAsp) n.2526_2564dup c.241_279dup (p.Thr93_Ter94insAlaGlyProCysArgArgLeuGlyAlaLeuTrpArgThr) c.53_91dup (p.Asp30_Leu31insArgArgThrMetSerGluValGlyGlySerValGluAsp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761402G>A | CA471994942 | CTSD | c.135C>T (p.Asp45=) c.30C>T (p.Asp10=) n.2563C>T c.278C>T (p.Thr93Ile) c.90C>T (p.Asp30=) | |
11 | g.1761402G>C | CA5814283 | CTSD | c.135C>G (p.Asp45Glu) c.30C>G (p.Asp10Glu) n.2563C>G c.278C>G (p.Thr93Ser) c.90C>G (p.Asp30Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761402G= | CA1947836754 | CTSD | c.135C= (p.Asp45=) c.30C= (p.Asp10=) n.2563C= c.278C= (p.Thr93=) c.90C= (p.Asp30=) | |
11 | g.1761402G>T | CA379099811 | CTSD | c.135C>A (p.Asp45Glu) c.30C>A (p.Asp10Glu) n.2563C>A c.278C>A (p.Thr93Asn) c.90C>A (p.Asp30Glu) | |
11 | g.1761403T>A | CA379099821 | CTSD | c.134A>T (p.Asp45Val) c.29A>T (p.Asp10Val) n.2562A>T c.277A>T (p.Thr93Ser) c.89A>T (p.Asp30Val) | |
11 | g.1761403T>C | CA379099818 | CTSD | c.134A>G (p.Asp45Gly) c.29A>G (p.Asp10Gly) n.2562A>G c.277A>G (p.Thr93Ala) c.89A>G (p.Asp30Gly) | gnomAD v4 |
11 | g.1761403T>G | CA379099815 | CTSD | c.134A>C (p.Asp45Ala) c.29A>C (p.Asp10Ala) n.2562A>C c.277A>C (p.Thr93Pro) c.89A>C (p.Asp30Ala) | |
11 | g.1761404C>A | CA379099824 | CTSD | c.133G>T (p.Asp45Tyr) c.28G>T (p.Asp10Tyr) n.2561G>T c.276G>T (p.Arg92Ser) c.88G>T (p.Asp30Tyr) | |
11 | g.1761404C= | CA1947836759 | CTSD | c.133G= (p.Asp45=) c.28G= (p.Asp10=) n.2561G= c.276G= (p.Arg92=) c.88G= (p.Asp30=) | |
11 | g.1761404C>G | CA379099825 | CTSD | c.133G>C (p.Asp45His) c.28G>C (p.Asp10His) n.2561G>C c.276G>C (p.Arg92Ser) c.88G>C (p.Asp30His) | |
11 | g.1761404C>T | CA379099826 | CTSD | c.133G>A (p.Asp45Asn) c.28G>A (p.Asp10Asn) n.2561G>A c.276G>A (p.Arg92=) c.88G>A (p.Asp30Asn) | ClinVar dbSNP |
11 | g.1761405C>A | CA379099828 | CTSD | c.132G>T (p.Glu44Asp) c.27G>T (p.Glu9Asp) n.2560G>T c.275G>T (p.Arg92Met) c.87G>T (p.Glu29Asp) | |
11 | g.1761405C= | CA1947836764 | CTSD | c.132G= (p.Glu44=) c.27G= (p.Glu9=) n.2560G= c.275G= (p.Arg92=) c.87G= (p.Glu29=) | |
11 | g.1761405C>G | CA216180962 | CTSD | c.132G>C (p.Glu44Asp) c.27G>C (p.Glu9Asp) n.2560G>C c.275G>C (p.Arg92Thr) c.87G>C (p.Glu29Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761405C>T | CA471994943 | CTSD | c.132G>A (p.Glu44=) c.27G>A (p.Glu9=) n.2560G>A c.275G>A (p.Arg92Lys) c.87G>A (p.Glu29=) | |
11 | g.1761406T>A | CA379099831 | CTSD | c.131A>T (p.Glu44Val) c.26A>T (p.Glu9Val) n.2559A>T c.274A>T (p.Arg92Trp) c.86A>T (p.Glu29Val) | ClinVar dbSNP |
11 | g.1761406T>C | CA379099832 | CTSD | c.131A>G (p.Glu44Gly) c.26A>G (p.Glu9Gly) n.2559A>G c.274A>G (p.Arg92Gly) c.86A>G (p.Glu29Gly) | |
11 | g.1761406T>G | CA379099834 | CTSD | c.131A>C (p.Glu44Ala) c.26A>C (p.Glu9Ala) n.2559A>C c.274A>C (p.Arg92=) c.86A>C (p.Glu29Ala) | |
11 | g.1761406T= | CA1947836767 | CTSD | c.131A= (p.Glu44=) c.26A= (p.Glu9=) n.2559A= c.274A= (p.Arg92=) c.86A= (p.Glu29=) | |
11 | g.1761407C>A | CA379099836 | CTSD | c.130G>T (p.Glu44Ter) c.25G>T (p.Glu9Ter) n.2558G>T c.273G>T (p.Trp91Cys) c.85G>T (p.Glu29Ter) | |
11 | g.1761407C= | CA1947836771 | CTSD | c.130G= (p.Glu44=) c.25G= (p.Glu9=) n.2558G= c.273G= (p.Trp91=) c.85G= (p.Glu29=) | |
11 | g.1761407C>G | CA379099837 | CTSD | c.130G>C (p.Glu44Gln) c.25G>C (p.Glu9Gln) n.2558G>C c.273G>C (p.Trp91Cys) c.85G>C (p.Glu29Gln) | |
11 | g.1761407C>T | CA379099839 | CTSD | c.130G>A (p.Glu44Lys) c.25G>A (p.Glu9Lys) n.2558G>A c.273G>A (p.Trp91Ter) c.85G>A (p.Glu29Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761408C>A | CA471994944 | CTSD | c.129G>T (p.Val43=) c.24G>T (p.Val8=) n.2557G>T c.272G>T (p.Trp91Leu) c.84G>T (p.Val28=) | |
11 | g.1761408C>G | CA471994945 | CTSD | c.129G>C (p.Val43=) c.24G>C (p.Val8=) n.2557G>C c.272G>C (p.Trp91Ser) c.84G>C (p.Val28=) | |
11 | g.1761408C>T | CA471994946 | CTSD | c.129G>A (p.Val43=) c.24G>A (p.Val8=) n.2557G>A c.272G>A (p.Trp91Ter) c.84G>A (p.Val28=) | |
11 | g.1761410_1761411del | CA2611929121 | CTSD | c.128_129del (p.Val43GlyfsTer?) c.23_24del (p.Val8GlyfsTer?) n.2556_2557del c.271_272del (p.Trp91GlufsTer?) c.83_84del (p.Val28GlyfsTer?) | gnomAD v4 |
11 | g.1761409A>C | CA379099845 | CTSD | c.128T>G (p.Val43Gly) c.23T>G (p.Val8Gly) n.2556T>G c.271T>G (p.Trp91Gly) c.83T>G (p.Val28Gly) | |
11 | g.1761409A>G | CA379099843 | CTSD | c.128T>C (p.Val43Ala) c.23T>C (p.Val8Ala) n.2556T>C c.271T>C (p.Trp91Arg) c.83T>C (p.Val28Ala) | |
11 | g.1761409A>T | CA379099841 | CTSD | c.128T>A (p.Val43Glu) c.23T>A (p.Val8Glu) n.2556T>A c.271T>A (p.Trp91Arg) c.83T>A (p.Val28Glu) | |
11 | g.1761410C>A | CA379099847 | CTSD | c.127G>T (p.Val43Leu) c.22G>T (p.Val8Leu) n.2555G>T c.270G>T (p.Leu90=) c.82G>T (p.Val28Leu) | |
11 | g.1761410C= | CA1947836775 | CTSD | c.127G= (p.Val43=) c.22G= (p.Val8=) n.2555G= c.270G= (p.Leu90=) c.82G= (p.Val28=) | |
11 | g.1761410C>G | CA379099849 | CTSD | c.127G>C (p.Val43Leu) c.22G>C (p.Val8Leu) n.2555G>C c.270G>C (p.Leu90=) c.82G>C (p.Val28Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761410C>T | CA379099850 | CTSD | c.127G>A (p.Val43Met) c.22G>A (p.Val8Met) n.2555G>A c.270G>A (p.Leu90=) c.82G>A (p.Val28Met) | gnomAD v4 |
11 | g.1761411A>C | CA471994947 | CTSD | c.126T>G (p.Ser42=) c.21T>G (p.Ser7=) n.2554T>G c.269T>G (p.Leu90Arg) c.81T>G (p.Ser27=) | |
11 | g.1761411A>G | CA471994948 | CTSD | c.126T>C (p.Ser42=) c.21T>C (p.Ser7=) n.2554T>C c.269T>C (p.Leu90Pro) c.81T>C (p.Ser27=) | |
11 | g.1761411A>T | CA471994949 | CTSD | c.126T>A (p.Ser42=) c.21T>A (p.Ser7=) n.2554T>A c.269T>A (p.Leu90Gln) c.81T>A (p.Ser27=) | |
11 | g.1761412G>A | CA379099852 | CTSD | c.125C>T (p.Ser42Phe) c.20C>T (p.Ser7Phe) n.2553C>T c.268C>T (p.Leu90=) c.80C>T (p.Ser27Phe) | |
11 | g.1761412G>C | CA379099853 | CTSD | c.125C>G (p.Ser42Cys) c.20C>G (p.Ser7Cys) n.2553C>G c.268C>G (p.Leu90Val) c.80C>G (p.Ser27Cys) | |
11 | g.1761412G>T | CA379099854 | CTSD | c.125C>A (p.Ser42Tyr) c.20C>A (p.Ser7Tyr) n.2553C>A c.268C>A (p.Leu90Met) c.80C>A (p.Ser27Tyr) | |
11 | g.1761413A= | CA1947836777 | CTSD | c.124T= (p.Ser42=) c.19T= (p.Ser7=) n.2552T= c.267T= (p.Ala89=) c.79T= (p.Ser27=) | |
11 | g.1761413A>C | CA379099856 | CTSD | c.124T>G (p.Ser42Ala) c.19T>G (p.Ser7Ala) n.2552T>G c.267T>G (p.Ala89=) c.79T>G (p.Ser27Ala) | |
11 | g.1761413A>G | CA379099857 | CTSD | c.124T>C (p.Ser42Pro) c.19T>C (p.Ser7Pro) n.2552T>C c.267T>C (p.Ala89=) c.79T>C (p.Ser27Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.1761413A>T | CA379099859 | CTSD | c.124T>A (p.Ser42Thr) c.19T>A (p.Ser7Thr) n.2552T>A c.267T>A (p.Ala89=) c.79T>A (p.Ser27Thr) | |
11 | g.1761414G>A | CA471994950 | CTSD | c.123C>T (p.Gly41=) c.18C>T (p.Gly6=) n.2551C>T c.266C>T (p.Ala89Val) c.78C>T (p.Gly26=) | dbSNP gnomAD v4 |
11 | g.1761414G>C | CA471994952 | CTSD | c.123C>G (p.Gly41=) c.18C>G (p.Gly6=) n.2551C>G c.266C>G (p.Ala89Gly) c.78C>G (p.Gly26=) | |
11 | g.1761414G= | CA1947836779 | CTSD | c.123C= (p.Gly41=) c.18C= (p.Gly6=) n.2551C= c.266C= (p.Ala89=) c.78C= (p.Gly26=) | |
11 | g.1761414G>T | CA471994953 | CTSD | c.123C>A (p.Gly41=) c.18C>A (p.Gly6=) n.2551C>A c.266C>A (p.Ala89Asp) c.78C>A (p.Gly26=) | |
11 | g.1761415C>A | CA379099862 | CTSD | c.122G>T (p.Gly41Val) c.17G>T (p.Gly6Val) n.2550G>T c.265G>T (p.Ala89Ser) c.77G>T (p.Gly26Val) | ClinVar |
11 | g.1761415C>G | CA379099863 | CTSD | c.122G>C (p.Gly41Ala) c.17G>C (p.Gly6Ala) n.2550G>C c.265G>C (p.Ala89Pro) c.77G>C (p.Gly26Ala) | |
11 | g.1761415C>T | CA379099866 | CTSD | c.122G>A (p.Gly41Asp) c.17G>A (p.Gly6Asp) n.2550G>A c.265G>A (p.Ala89Thr) c.77G>A (p.Gly26Asp) | |
11 | g.1761419dup | CA5814284 | CTSD | c.122dup (p.Ser42LeufsTer?) c.17dup (p.Ser7LeufsTer?) n.2550dup c.265dup (p.Ala89GlyfsTer?) c.77dup (p.Ser27LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761419del | CA2611929137 | CTSD | c.122del (p.Gly41AlafsTer6) c.17del (p.Gly6AlafsTer6) n.2550del c.265del (p.Ala89LeufsTer?) c.77del (p.Gly26AlafsTer6) | gnomAD v4 |
11 | g.1761417_1761419del | CA2611929135 | CTSD | c.120_122del (p.Gly41del) c.15_17del (p.Gly6del) n.2548_2550del c.263_265del (p.Gly88del) c.75_77del (p.Gly26del) | gnomAD v4 |
11 | g.1761416C>A | CA379099870 | CTSD | c.121G>T (p.Gly41Cys) c.16G>T (p.Gly6Cys) n.2549G>T c.264G>T (p.Gly88=) c.76G>T (p.Gly26Cys) | |
11 | g.1761416C>G | CA379099867 | CTSD | c.121G>C (p.Gly41Arg) c.16G>C (p.Gly6Arg) n.2549G>C c.264G>C (p.Gly88=) c.76G>C (p.Gly26Arg) | |
11 | g.1761416C>T | CA379099869 | CTSD | c.121G>A (p.Gly41Ser) c.16G>A (p.Gly6Ser) n.2549G>A c.264G>A (p.Gly88=) c.76G>A (p.Gly26Ser) | |
11 | g.1761417C>A | CA5814286 | CTSD | c.120G>T (p.Gly40=) c.15G>T (p.Gly5=) n.2548G>T c.263G>T (p.Gly88Val) c.75G>T (p.Gly25=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761417C= | CA1947836783 | CTSD | c.120G= (p.Gly40=) c.15G= (p.Gly5=) n.2548G= c.263G= (p.Gly88=) c.75G= (p.Gly25=) | |
11 | g.1761417C>G | CA471994954 | CTSD | c.120G>C (p.Gly40=) c.15G>C (p.Gly5=) n.2548G>C c.263G>C (p.Gly88Ala) c.75G>C (p.Gly25=) | |
11 | g.1761417C>T | CA5814285 | CTSD | c.120G>A (p.Gly40=) c.15G>A (p.Gly5=) n.2548G>A c.263G>A (p.Gly88Glu) c.75G>A (p.Gly25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761418C>A | CA379099875 | CTSD | c.119G>T (p.Gly40Val) c.14G>T (p.Gly5Val) n.2547G>T c.262G>T (p.Gly88Trp) c.74G>T (p.Gly25Val) | |
11 | g.1761418C>G | CA379099876 | CTSD | c.119G>C (p.Gly40Ala) c.14G>C (p.Gly5Ala) n.2547G>C c.262G>C (p.Gly88Arg) c.74G>C (p.Gly25Ala) | |
11 | g.1761418C>T | CA379099877 | CTSD | c.119G>A (p.Gly40Glu) c.14G>A (p.Gly5Glu) n.2547G>A c.262G>A (p.Gly88Arg) c.74G>A (p.Gly25Glu) | |
11 | g.1761419C>A | CA379099879 | CTSD | c.118G>T (p.Gly40Trp) c.13G>T (p.Gly5Trp) n.2546G>T c.261G>T (p.Leu87Phe) c.73G>T (p.Gly25Trp) | |
11 | g.1761419C>G | CA379099881 | CTSD | c.118G>C (p.Gly40Arg) c.13G>C (p.Gly5Arg) n.2546G>C c.261G>C (p.Leu87Phe) c.73G>C (p.Gly25Arg) | |
11 | g.1761419C>T | CA379099882 | CTSD | c.118G>A (p.Gly40Arg) c.13G>A (p.Gly5Arg) n.2546G>A c.261G>A (p.Leu87=) c.73G>A (p.Gly25Arg) | gnomAD v4 |
11 | g.1761420A= | CA1947836786 | CTSD | c.117T= (p.Val39=) c.12T= (p.Val4=) n.2545T= c.260T= (p.Leu87=) c.72T= (p.Val24=) | |
11 | g.1761420A>C | CA471994955 | CTSD | c.117T>G (p.Val39=) c.12T>G (p.Val4=) n.2545T>G c.260T>G (p.Leu87Trp) c.72T>G (p.Val24=) | |
11 | g.1761420A>G | CA471994956 | CTSD | c.117T>C (p.Val39=) c.12T>C (p.Val4=) n.2545T>C c.260T>C (p.Leu87Ser) c.72T>C (p.Val24=) | ClinVar dbSNP gnomAD v4 |
11 | g.1761420A>T | CA471994957 | CTSD | c.117T>A (p.Val39=) c.12T>A (p.Val4=) n.2545T>A c.260T>A (p.Leu87Ter) c.72T>A (p.Val24=) | |
11 | g.1761421A= | CA1947836788 | CTSD | c.116T= (p.Val39=) c.11T= (p.Val4=) n.2544T= c.259T= (p.Leu87=) c.71T= (p.Val24=) | |
11 | g.1761421A>C | CA379099883 | CTSD | c.116T>G (p.Val39Gly) c.11T>G (p.Val4Gly) n.2544T>G c.259T>G (p.Leu87Val) c.71T>G (p.Val24Gly) | |
11 | g.1761421A>G | CA379099884 | CTSD | c.116T>C (p.Val39Ala) c.11T>C (p.Val4Ala) n.2544T>C c.259T>C (p.Leu87=) c.71T>C (p.Val24Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.1761421A>T | CA379099885 | CTSD | c.116T>A (p.Val39Asp) c.11T>A (p.Val4Asp) n.2544T>A c.259T>A (p.Leu87Met) c.71T>A (p.Val24Asp) | |
11 | g.1761422C>A | CA379099888 | CTSD | c.115G>T (p.Val39Phe) c.10G>T (p.Val4Phe) n.2543G>T c.258G>T (p.Arg86Ser) c.70G>T (p.Val24Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761422C= | CA1947836793 | CTSD | c.115G= (p.Val39=) c.10G= (p.Val4=) n.2543G= c.258G= (p.Arg86=) c.70G= (p.Val24=) | |
11 | g.1761422C>G | CA5814287 | CTSD | c.115G>C (p.Val39Leu) c.10G>C (p.Val4Leu) n.2543G>C c.258G>C (p.Arg86Ser) c.70G>C (p.Val24Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761422C>T | CA379099886 | CTSD | c.115G>A (p.Val39Ile) c.10G>A (p.Val4Ile) n.2543G>A c.258G>A (p.Arg86=) c.70G>A (p.Val24Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.1761423C>A | CA379099891 | CTSD | c.114G>T (p.Glu38Asp) c.9G>T (p.Glu3Asp) n.2542G>T c.257G>T (p.Arg86Met) c.69G>T (p.Glu23Asp) | |
11 | g.1761423C>G | CA379099892 | CTSD | c.114G>C (p.Glu38Asp) c.9G>C (p.Glu3Asp) n.2542G>C c.257G>C (p.Arg86Thr) c.69G>C (p.Glu23Asp) | |
11 | g.1761423C>T | CA471994958 | CTSD | c.114G>A (p.Glu38=) c.9G>A (p.Glu3=) n.2542G>A c.257G>A (p.Arg86Lys) c.69G>A (p.Glu23=) | ClinVar |
11 | g.1761424T>A | CA379099895 | CTSD | c.113A>T (p.Glu38Val) c.8A>T (p.Glu3Val) n.2541A>T c.256A>T (p.Arg86Trp) c.68A>T (p.Glu23Val) | |
11 | g.1761424T>C | CA379099896 | CTSD | c.113A>G (p.Glu38Gly) c.8A>G (p.Glu3Gly) n.2541A>G c.256A>G (p.Arg86Gly) c.68A>G (p.Glu23Gly) | |
11 | g.1761424T>G | CA379099898 | CTSD | c.113A>C (p.Glu38Ala) c.8A>C (p.Glu3Ala) n.2541A>C c.256A>C (p.Arg86=) c.68A>C (p.Glu23Ala) | |
11 | g.1761425C>A | CA379099900 | CTSD | c.112G>T (p.Glu38Ter) c.7G>T (p.Glu3Ter) n.2540G>T c.255G>T (p.Arg85=) c.67G>T (p.Glu23Ter) | |
11 | g.1761425C= | CA1947836797 | CTSD | c.112G= (p.Glu38=) c.7G= (p.Glu3=) n.2540G= c.255G= (p.Arg85=) c.67G= (p.Glu23=) | |
11 | g.1761425C>G | CA379099902 | CTSD | c.112G>C (p.Glu38Gln) c.7G>C (p.Glu3Gln) n.2540G>C c.255G>C (p.Arg85=) c.67G>C (p.Glu23Gln) | |
11 | g.1761425C>T | CA5814288 | CTSD | c.112G>A (p.Glu38Lys) c.7G>A (p.Glu3Lys) n.2540G>A c.255G>A (p.Arg85=) c.67G>A (p.Glu23Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761426C>A | CA471994959 | CTSD | c.111G>T (p.Ser37=) c.6G>T (p.Ser2=) n.2539G>T c.254G>T (p.Arg85Leu) c.66G>T (p.Ser22=) | |
11 | g.1761426C= | CA1947836803 | CTSD | c.111G= (p.Ser37=) c.6G= (p.Ser2=) n.2539G= c.254G= (p.Arg85=) c.66G= (p.Ser22=) | |
11 | g.1761426C>G | CA5814290 | CTSD | c.111G>C (p.Ser37=) c.6G>C (p.Ser2=) n.2539G>C c.254G>C (p.Arg85Pro) c.66G>C (p.Ser22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761426C>T | CA5814289 | CTSD | c.111G>A (p.Ser37=) c.6G>A (p.Ser2=) n.2539G>A c.254G>A (p.Arg85Gln) c.66G>A (p.Ser22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761427G>A | CA5814291 | CTSD | c.110C>T (p.Ser37Leu) c.5C>T (p.Ser2Leu) n.2538C>T c.253C>T (p.Arg85Trp) c.65C>T (p.Ser22Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761427G>C | CA379099904 | CTSD | c.110C>G (p.Ser37Trp) c.5C>G (p.Ser2Trp) n.2538C>G c.253C>G (p.Arg85Gly) c.65C>G (p.Ser22Trp) | |
11 | g.1761427G= | CA1947836809 | CTSD | c.110C= (p.Ser37=) c.5C= (p.Ser2=) n.2538C= c.253C= (p.Arg85=) c.65C= (p.Ser22=) | |
11 | g.1761427G>T | CA379099906 | CTSD | c.110C>A (p.Ser37Ter) c.5C>A (p.Ser2Ter) n.2538C>A c.253C>A (p.Arg85=) c.65C>A (p.Ser22Ter) | |
11 | g.1761428A>C | CA379099911 | CTSD | c.109T>G (p.Ser37Ala) c.4T>G (p.Ser2Ala) n.2537T>G c.252T>G (p.Cys84Trp) c.64T>G (p.Ser22Ala) | |
11 | g.1761428A>G | CA379099910 | CTSD | c.109T>C (p.Ser37Pro) c.4T>C (p.Ser2Pro) n.2537T>C c.252T>C (p.Cys84=) c.64T>C (p.Ser22Pro) | |
11 | g.1761428A>T | CA379099908 | CTSD | c.109T>A (p.Ser37Thr) c.4T>A (p.Ser2Thr) n.2537T>A c.252T>A (p.Cys84Ter) c.64T>A (p.Ser22Thr) | |
11 | g.1761429C>A | CA379099914 | CTSD | c.108G>T (p.Met36Ile) c.3G>T (p.Met1Ile) n.2536G>T c.251G>T (p.Cys84Phe) c.63G>T (p.Met21Ile) | |
11 | g.1761429C>G | CA379099917 | CTSD | c.108G>C (p.Met36Ile) c.3G>C (p.Met1Ile) n.2536G>C c.251G>C (p.Cys84Ser) c.63G>C (p.Met21Ile) | |
11 | g.1761429C>T | CA379099919 | CTSD | c.108G>A (p.Met36Ile) c.3G>A (p.Met1Ile) n.2536G>A c.251G>A (p.Cys84Tyr) c.63G>A (p.Met21Ile) | |
11 | g.1761430A= | CA1947836813 | CTSD | c.107T= (p.Met36=) c.2T= (p.Met1=) n.2535T= c.250T= (p.Cys84=) c.62T= (p.Met21=) | |
11 | g.1761430A>C | CA379099922 | CTSD | c.107T>G (p.Met36Arg) c.2T>G (p.Met1Arg) n.2535T>G c.250T>G (p.Cys84Gly) c.62T>G (p.Met21Arg) | |
11 | g.1761430A>G | CA5814292 | CTSD | c.107T>C (p.Met36Thr) c.2T>C (p.Met1Thr) n.2535T>C c.250T>C (p.Cys84Arg) c.62T>C (p.Met21Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761430A>T | CA379099924 | CTSD | c.107T>A (p.Met36Lys) c.2T>A (p.Met1Lys) n.2535T>A c.250T>A (p.Cys84Ser) c.62T>A (p.Met21Lys) | |
11 | g.1761431T>A | CA379099926 | CTSD | c.106A>T (p.Met36Leu) c.1A>T (p.Met1Leu) n.2534A>T c.249A>T (p.Pro83=) c.61A>T (p.Met21Leu) | |
11 | g.1761431T>C | CA5814293 | CTSD | c.106A>G (p.Met36Val) c.1A>G (p.Met1Val) n.2534A>G c.249A>G (p.Pro83=) c.61A>G (p.Met21Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761431T>G | CA379099928 | CTSD | c.106A>C (p.Met36Leu) c.1A>C (p.Met1Leu) n.2534A>C c.249A>C (p.Pro83=) c.61A>C (p.Met21Leu) | |
11 | g.1761431T= | CA1947836816 | CTSD | c.106A= (p.Met36=) c.1A= (p.Met1=) n.2534A= c.249A= (p.Pro83=) c.61A= (p.Met21=) | |
11 | g.1761432G>A | CA471994960 | CTSD | c.105C>T (p.Thr35=) c.-1C>T (n.-1C>T) n.2533C>T c.248C>T (p.Pro83Leu) c.60C>T (p.Thr20=) | ClinVar dbSNP |
11 | g.1761432G>C | CA471994961 | CTSD | c.105C>G (p.Thr35=) c.-1C>G (n.-1C>G) n.2533C>G c.248C>G (p.Pro83Arg) c.60C>G (p.Thr20=) | |
11 | g.1761432G>T | CA471994962 | CTSD | c.105C>A (p.Thr35=) c.-1C>A (n.-1C>A) n.2533C>A c.248C>A (p.Pro83Gln) c.60C>A (p.Thr20=) | |
11 | g.1761433G>A | CA379099930 | CTSD | c.104C>T (p.Thr35Ile) c.-2C>T (n.-2C>T) n.2532C>T c.247C>T (p.Pro83Ser) c.59C>T (p.Thr20Ile) | gnomAD v4 |
11 | g.1761433G>C | CA379099932 | CTSD | c.104C>G (p.Thr35Ser) c.-2C>G (n.-2C>G) n.2532C>G c.247C>G (p.Pro83Ala) c.59C>G (p.Thr20Ser) | |
11 | g.1761433G>T | CA379099934 | CTSD | c.104C>A (p.Thr35Asn) c.-2C>A (n.-2C>A) n.2532C>A c.247C>A (p.Pro83Thr) c.59C>A (p.Thr20Asn) | |
11 | g.1761434T>A | CA379099938 | CTSD | c.103A>T (p.Thr35Ser) c.-3A>T (n.-3A>T) n.2531A>T c.246A>T (p.Gly82=) c.58A>T (p.Thr20Ser) | |
11 | g.1761434T>C | CA379099939 | CTSD | c.103A>G (p.Thr35Ala) c.-3A>G (n.-3A>G) n.2531A>G c.246A>G (p.Gly82=) c.58A>G (p.Thr20Ala) | |
11 | g.1761434T>G | CA379099936 | CTSD | c.103A>C (p.Thr35Pro) c.-3A>C (n.-3A>C) n.2531A>C c.246A>C (p.Gly82=) c.58A>C (p.Thr20Pro) | |
11 | g.1761435C>A | CA471994963 | CTSD | c.102G>T (p.Arg34=) c.-4G>T (n.-4G>T) n.2530G>T c.245G>T (p.Gly82Val) c.57G>T (p.Arg19=) | |
11 | g.1761435C= | CA1947836819 | CTSD | c.102G= (p.Arg34=) c.-4G= (n.-4G=) n.2530G= c.245G= (p.Gly82=) c.57G= (p.Arg19=) | |
11 | g.1761435C>G | CA471994964 | CTSD | c.102G>C (p.Arg34=) c.-4G>C (n.-4G>C) n.2530G>C c.245G>C (p.Gly82Ala) c.57G>C (p.Arg19=) | dbSNP gnomAD v4 |
11 | g.1761435C>T | CA471994965 | CTSD | c.102G>A (p.Arg34=) c.-4G>A (n.-4G>A) n.2530G>A c.245G>A (p.Gly82Glu) c.57G>A (p.Arg19=) | gnomAD v4 |
11 | g.1761436C>A | CA379099941 | CTSD | c.101G>T (p.Arg34Leu) c.-5G>T (n.-5G>T) n.2529G>T c.244G>T (p.Gly82Ter) c.56G>T (p.Arg19Leu) | |
11 | g.1761436C= | CA1947836827 | CTSD | c.101G= (p.Arg34=) c.-5G= (n.-5G=) n.2529G= c.244G= (p.Gly82=) c.56G= (p.Arg19=) | |
11 | g.1761436C>G | CA379099943 | CTSD | c.101G>C (p.Arg34Pro) c.-5G>C (n.-5G>C) n.2529G>C c.244G>C (p.Gly82Arg) c.56G>C (p.Arg19Pro) | gnomAD v4 |
11 | g.1761436C>T | CA379099945 | CTSD | c.101G>A (p.Arg34Gln) c.-5G>A (n.-5G>A) n.2529G>A c.244G>A (p.Gly82Arg) c.56G>A (p.Arg19Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761437G>A | CA314338 | CTSD | c.100C>T (p.Arg34Trp) c.-6C>T (n.-6C>T) n.2528C>T c.243C>T (p.Ala81=) c.55C>T (p.Arg19Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761437G>C | CA379099948 | CTSD | c.100C>G (p.Arg34Gly) c.-6C>G (n.-6C>G) n.2528C>G c.243C>G (p.Ala81=) c.55C>G (p.Arg19Gly) | |
11 | g.1761437G= | CA1947836834 | CTSD | c.100C= (p.Arg34=) c.-6C= (n.-6C=) n.2528C= c.243C= (p.Ala81=) c.55C= (p.Arg19=) | |
11 | g.1761437G>T | CA471994966 | CTSD | c.100C>A (p.Arg34=) c.-6C>A (n.-6C>A) n.2528C>A c.243C>A (p.Ala81=) c.55C>A (p.Arg19=) | |
11 | g.1761438G>A | CA471994968 | CTSD | c.99C>T (p.Arg33=) c.-7C>T (n.-7C>T) n.2527C>T c.242C>T (p.Ala81Val) c.54C>T (p.Arg18=) | gnomAD v4 |
11 | g.1761438G>C | CA471994969 | CTSD | c.99C>G (p.Arg33=) c.-7C>G (n.-7C>G) n.2527C>G c.242C>G (p.Ala81Gly) c.54C>G (p.Arg18=) | ClinVar dbSNP |
11 | g.1761438G= | CA1947836840 | CTSD | c.99C= (p.Arg33=) c.-7C= (n.-7C=) n.2527C= c.242C= (p.Ala81=) c.54C= (p.Arg18=) | |
11 | g.1761438G>T | CA471994967 | CTSD | c.99C>A (p.Arg33=) c.-7C>A (n.-7C>A) n.2527C>A c.242C>A (p.Ala81Asp) c.54C>A (p.Arg18=) | |
11 | g.1761439C>A | CA379099950 | CTSD | c.98G>T (p.Arg33Leu) c.-8G>T (n.-8G>T) n.2526G>T c.241G>T (p.Ala81Ser) c.53G>T (p.Arg18Leu) | |
11 | g.1761439C= | CA1947836847 | CTSD | c.98G= (p.Arg33=) c.-8G= (n.-8G=) n.2526G= c.241G= (p.Ala81=) c.53G= (p.Arg18=) | |
11 | g.1761439C>G | CA379099954 | CTSD | c.98G>C (p.Arg33Pro) c.-8G>C (n.-8G>C) n.2526G>C c.241G>C (p.Ala81Pro) c.53G>C (p.Arg18Pro) | |
11 | g.1761439C>T | CA5814294 | CTSD | c.98G>A (p.Arg33His) c.-8G>A (n.-8G>A) n.2526G>A c.241G>A (p.Ala81Thr) c.53G>A (p.Arg18His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761440G>A | CA5814295 | CTSD | c.97C>T (p.Arg33Cys) c.-9C>T (n.-9C>T) n.2525C>T c.240C>T (p.Ser80=) c.52C>T (p.Arg18Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761440G>C | CA379099961 | CTSD | c.97C>G (p.Arg33Gly) c.-9C>G (n.-9C>G) n.2525C>G c.240C>G (p.Ser80=) c.52C>G (p.Arg18Gly) | |
11 | g.1761440G= | CA1947836850 | CTSD | c.97C= (p.Arg33=) c.-9C= (n.-9C=) n.2525C= c.240C= (p.Ser80=) c.52C= (p.Arg18=) | |
11 | g.1761440G>T | CA379099963 | CTSD | c.97C>A (p.Arg33Ser) c.-9C>A (n.-9C>A) n.2525C>A c.240C>A (p.Ser80=) c.52C>A (p.Arg18Ser) | |
11 | g.1761441G>A | CA471994970 | CTSD | c.96C>T (p.Ile32=) c.-10C>T (n.-10C>T) n.2524C>T c.239C>T (p.Ser80Phe) c.51C>T (p.Ile17=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761441G>C | CA379099967 | CTSD | c.96C>G (p.Ile32Met) c.-10C>G (n.-10C>G) n.2524C>G c.239C>G (p.Ser80Cys) c.51C>G (p.Ile17Met) | |
11 | g.1761441G= | CA1947836855 | CTSD | c.96C= (p.Ile32=) c.-10C= (n.-10C=) n.2524C= c.239C= (p.Ser80=) c.51C= (p.Ile17=) | |
11 | g.1761441G>T | CA471994971 | CTSD | c.96C>A (p.Ile32=) c.-10C>A (n.-10C>A) n.2524C>A c.239C>A (p.Ser80Tyr) c.51C>A (p.Ile17=) | |
11 | g.1761442A>C | CA379099973 | CTSD | c.95T>G (p.Ile32Ser) c.-11T>G (n.-11T>G) n.2523T>G c.238T>G (p.Ser80Ala) c.50T>G (p.Ile17Ser) | |
11 | g.1761442A>G | CA379099977 | CTSD | c.95T>C (p.Ile32Thr) c.-11T>C (n.-11T>C) n.2523T>C c.238T>C (p.Ser80Pro) c.50T>C (p.Ile17Thr) | |
11 | g.1761442A>T | CA379099970 | CTSD | c.95T>A (p.Ile32Asn) c.-11T>A (n.-11T>A) n.2523T>A c.238T>A (p.Ser80Thr) c.50T>A (p.Ile17Asn) | |
11 | g.1761443T>A | CA379099980 | CTSD | c.94A>T (p.Ile32Phe) c.-12A>T (n.-12A>T) n.2522A>T c.237A>T (p.Pro79=) c.49A>T (p.Ile17Phe) | |
11 | g.1761443T>C | CA379099983 | CTSD | c.94A>G (p.Ile32Val) c.-12A>G (n.-12A>G) n.2522A>G c.237A>G (p.Pro79=) c.49A>G (p.Ile17Val) | ClinVar gnomAD v4 |
11 | g.1761443T>G | CA379099985 | CTSD | c.94A>C (p.Ile32Leu) c.-12A>C (n.-12A>C) n.2522A>C c.237A>C (p.Pro79=) c.49A>C (p.Ile17Leu) | |
11 | g.1761444G>A | CA471994972 | CTSD | c.93C>T (p.Ser31=) c.-13C>T (n.-13C>T) n.2521C>T c.236C>T (p.Pro79Leu) c.48C>T (p.Ser16=) | |
11 | g.1761444G>C | CA471994973 | CTSD | c.93C>G (p.Ser31=) c.-13C>G (n.-13C>G) n.2521C>G c.236C>G (p.Pro79Arg) c.48C>G (p.Ser16=) | |
11 | g.1761444G>T | CA471994974 | CTSD | c.93C>A (p.Ser31=) c.-13C>A (n.-13C>A) n.2521C>A c.236C>A (p.Pro79Gln) c.48C>A (p.Ser16=) | |
11 | g.1761445G>A | CA379099989 | CTSD | c.92C>T (p.Ser31Phe) c.-14C>T (n.-14C>T) n.2520C>T c.235C>T (p.Pro79Ser) c.47C>T (p.Ser16Phe) | |
11 | g.1761445G>C | CA379099991 | CTSD | c.92C>G (p.Ser31Cys) c.-14C>G (n.-14C>G) n.2520C>G c.235C>G (p.Pro79Ala) c.47C>G (p.Ser16Cys) | |
11 | g.1761445G>T | CA379099994 | CTSD | c.92C>A (p.Ser31Tyr) c.-14C>A (n.-14C>A) n.2520C>A c.235C>A (p.Pro79Thr) c.47C>A (p.Ser16Tyr) | |
11 | g.1761446A>C | CA379099998 | CTSD | c.91T>G (p.Ser31Ala) c.-15T>G (n.-15T>G) n.2519T>G c.234T>G (p.Arg78=) c.46T>G (p.Ser16Ala) | |
11 | g.1761446A>G | CA379100002 | CTSD | c.91T>C (p.Ser31Pro) c.-15T>C (n.-15T>C) n.2519T>C c.234T>C (p.Arg78=) c.46T>C (p.Ser16Pro) | COSMIC |
11 | g.1761446A>T | CA379099999 | CTSD | c.91T>A (p.Ser31Thr) c.-15T>A (n.-15T>A) n.2519T>A c.234T>A (p.Arg78=) c.46T>A (p.Ser16Thr) | |
11 | g.1761447C>A | CA471994976 | CTSD | c.90G>T (p.Thr30=) c.-16G>T (n.-16G>T) n.2518G>T c.233G>T (p.Arg78Leu) c.45G>T (p.Thr15=) | |
11 | g.1761447C= | CA1947836860 | CTSD | c.90G= (p.Thr30=) c.-16G= (n.-16G=) n.2518G= c.233G= (p.Arg78=) c.45G= (p.Thr15=) | |
11 | g.1761447C>G | CA471994975 | CTSD | c.90G>C (p.Thr30=) c.-16G>C (n.-16G>C) n.2518G>C c.233G>C (p.Arg78Pro) c.45G>C (p.Thr15=) | |
11 | g.1761447C>T | CA5814296 | CTSD | c.90G>A (p.Thr30=) c.-16G>A (n.-16G>A) n.2518G>A c.233G>A (p.Arg78His) c.45G>A (p.Thr15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761448G>A | CA5814297 | CTSD | c.89C>T (p.Thr30Met) c.-17C>T (n.-17C>T) n.2517C>T c.232C>T (p.Arg78Cys) c.44C>T (p.Thr15Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761448G>C | CA379100007 | CTSD | c.89C>G (p.Thr30Arg) c.-17C>G (n.-17C>G) n.2517C>G c.232C>G (p.Arg78Gly) c.44C>G (p.Thr15Arg) | |
11 | g.1761448G= | CA1947836866 | CTSD | c.89C= (p.Thr30=) c.-17C= (n.-17C=) n.2517C= c.232C= (p.Arg78=) c.44C= (p.Thr15=) | |
11 | g.1761448G>T | CA379100011 | CTSD | c.89C>A (p.Thr30Lys) c.-17C>A (n.-17C>A) n.2517C>A c.232C>A (p.Arg78Ser) c.44C>A (p.Thr15Lys) | |
11 | g.1761449T>A | CA379100020 | CTSD | c.88A>T (p.Thr30Ser) c.-18A>T (n.-18A>T) n.2516A>T c.231A>T (p.Ser77=) c.43A>T (p.Thr15Ser) | |
11 | g.1761449T>C | CA379100018 | CTSD | c.88A>G (p.Thr30Ala) c.-18A>G (n.-18A>G) n.2516A>G c.231A>G (p.Ser77=) c.43A>G (p.Thr15Ala) | gnomAD v4 |
11 | g.1761449T>G | CA379100015 | CTSD | c.88A>C (p.Thr30Pro) c.-18A>C (n.-18A>C) n.2516A>C c.231A>C (p.Ser77=) c.43A>C (p.Thr15Pro) |