UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1759506C>A | CA2611925491 | CTSD | c.352+10G>T (n.352+10G>T) c.247+10G>T (n.247+10G>T) c.331+10G>T (n.331+10G>T) c.346+10G>T (n.346+10G>T) n.2780+10G>T n.747+10G>T c.*213+10G>T (n.*213+10G>T) c.307+10G>T (n.307+10G>T) | gnomAD v4 |
| 11 | g.1759506C= | CA1947834629 | CTSD | c.352+10G= (n.352+10G=) c.247+10G= (n.247+10G=) c.331+10G= (n.331+10G=) c.346+10G= (n.346+10G=) n.2780+10G= n.747+10G= c.*213+10G= (n.*213+10G=) c.307+10G= (n.307+10G=) | |
| 11 | g.1759506C>G | CA5814230 | CTSD | c.352+10G>C (n.352+10G>C) c.247+10G>C (n.247+10G>C) c.331+10G>C (n.331+10G>C) c.346+10G>C (n.346+10G>C) n.2780+10G>C n.747+10G>C c.*213+10G>C (n.*213+10G>C) c.307+10G>C (n.307+10G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759506C>T | CA5814231 | CTSD | c.352+10G>A (n.352+10G>A) c.247+10G>A (n.247+10G>A) c.331+10G>A (n.331+10G>A) c.346+10G>A (n.346+10G>A) n.2780+10G>A n.747+10G>A c.*213+10G>A (n.*213+10G>A) c.307+10G>A (n.307+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759507G>A | CA5814232 | CTSD | c.352+9C>T (n.352+9C>T) c.247+9C>T (n.247+9C>T) c.331+9C>T (n.331+9C>T) c.346+9C>T (n.346+9C>T) n.2780+9C>T n.747+9C>T c.*213+9C>T (n.*213+9C>T) c.307+9C>T (n.307+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759507G= | CA1947834631 | CTSD | c.352+9C= (n.352+9C=) c.247+9C= (n.247+9C=) c.331+9C= (n.331+9C=) c.346+9C= (n.346+9C=) n.2780+9C= n.747+9C= c.*213+9C= (n.*213+9C=) c.307+9C= (n.307+9C=) | |
| 11 | g.1759508T>A | CA216175515 | CTSD | c.352+8A>T (n.352+8A>T) c.247+8A>T (n.247+8A>T) c.331+8A>T (n.331+8A>T) c.346+8A>T (n.346+8A>T) n.2780+8A>T n.747+8A>T c.*213+8A>T (n.*213+8A>T) c.307+8A>T (n.307+8A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759508T= | CA1947834632 | CTSD | c.352+8A= (n.352+8A=) c.247+8A= (n.247+8A=) c.331+8A= (n.331+8A=) c.346+8A= (n.346+8A=) n.2780+8A= n.747+8A= c.*213+8A= (n.*213+8A=) c.307+8A= (n.307+8A=) | |
| 11 | g.1759509G>A | CA597067346 | CTSD | c.352+7C>T (n.352+7C>T) c.247+7C>T (n.247+7C>T) c.331+7C>T (n.331+7C>T) c.346+7C>T (n.346+7C>T) n.2780+7C>T n.747+7C>T c.*213+7C>T (n.*213+7C>T) c.307+7C>T (n.307+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759509G>C | CA934407487 | CTSD | c.352+7C>G (n.352+7C>G) c.247+7C>G (n.247+7C>G) c.331+7C>G (n.331+7C>G) c.346+7C>G (n.346+7C>G) n.2780+7C>G n.747+7C>G c.*213+7C>G (n.*213+7C>G) c.307+7C>G (n.307+7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759509G= | CA1947834633 | CTSD | c.352+7C= (n.352+7C=) c.247+7C= (n.247+7C=) c.331+7C= (n.331+7C=) c.346+7C= (n.346+7C=) n.2780+7C= n.747+7C= c.*213+7C= (n.*213+7C=) c.307+7C= (n.307+7C=) | |
| 11 | g.1759509G>T | CA2611925507 | CTSD | c.352+7C>A (n.352+7C>A) c.247+7C>A (n.247+7C>A) c.331+7C>A (n.331+7C>A) c.346+7C>A (n.346+7C>A) n.2780+7C>A n.747+7C>A c.*213+7C>A (n.*213+7C>A) c.307+7C>A (n.307+7C>A) | gnomAD v4 |
| 11 | g.1759510_1759511delinsAC | CA1947834634 | CTSD | c.352+5_352+6delinsGT (n.352+5_352+6delinsGT) c.247+5_247+6delinsGT (n.247+5_247+6delinsGT) c.331+5_331+6delinsGT (n.331+5_331+6delinsGT) c.346+5_346+6delinsGT (n.346+5_346+6delinsGT) n.2780+5_2780+6delinsGT n.747+5_747+6delinsGT c.*213+5_*213+6delinsGT (n.*213+5_*213+6delinsGT) c.307+5_307+6delinsGT (n.307+5_307+6delinsGT) | |
| 11 | g.1759511del | CA1947834635 | CTSD | c.352+5del (n.352+5del) c.247+5del (n.247+5del) c.331+5del (n.331+5del) c.346+5del (n.346+5del) n.2780+5del n.747+5del c.*213+5del (n.*213+5del) c.307+5del (n.307+5del) | dbSNP |
| 11 | g.1759513C= | CA1947834636 | CTSD | c.352+3G= (n.352+3G=) c.247+3G= (n.247+3G=) c.331+3G= (n.331+3G=) c.346+3G= (n.346+3G=) n.2780+3G= n.747+3G= c.*213+3G= (n.*213+3G=) c.307+3G= (n.307+3G=) | |
| 11 | g.1759513C>G | CA216175516 | CTSD | c.352+3G>C (n.352+3G>C) c.247+3G>C (n.247+3G>C) c.331+3G>C (n.331+3G>C) c.346+3G>C (n.346+3G>C) n.2780+3G>C n.747+3G>C c.*213+3G>C (n.*213+3G>C) c.307+3G>C (n.307+3G>C) | dbSNP |
| 11 | g.1759513C>T | CA216175520 | CTSD | c.352+3G>A (n.352+3G>A) c.247+3G>A (n.247+3G>A) c.331+3G>A (n.331+3G>A) c.346+3G>A (n.346+3G>A) n.2780+3G>A n.747+3G>A c.*213+3G>A (n.*213+3G>A) c.307+3G>A (n.307+3G>A) | dbSNP |
| 11 | g.1759514A= | CA1947834637 | CTSD | c.352+2T= (n.352+2T=) c.247+2T= (n.247+2T=) c.331+2T= (n.331+2T=) c.346+2T= (n.346+2T=) n.2780+2T= n.747+2T= c.*213+2T= (n.*213+2T=) c.307+2T= (n.307+2T=) | |
| 11 | g.1759514A>C | CA216175552 | CTSD | c.352+2T>G (n.352+2T>G) c.247+2T>G (n.247+2T>G) c.331+2T>G (n.331+2T>G) c.346+2T>G (n.346+2T>G) n.2780+2T>G n.747+2T>G c.*213+2T>G (n.*213+2T>G) c.307+2T>G (n.307+2T>G) | dbSNP |
| 11 | g.1759514A>G | CA379097912 | CTSD | c.352+2T>C (n.352+2T>C) c.247+2T>C (n.247+2T>C) c.331+2T>C (n.331+2T>C) c.346+2T>C (n.346+2T>C) n.2780+2T>C n.747+2T>C c.*213+2T>C (n.*213+2T>C) c.307+2T>C (n.307+2T>C) | |
| 11 | g.1759514A>T | CA216175553 | CTSD | c.352+2T>A (n.352+2T>A) c.247+2T>A (n.247+2T>A) c.331+2T>A (n.331+2T>A) c.346+2T>A (n.346+2T>A) n.2780+2T>A n.747+2T>A c.*213+2T>A (n.*213+2T>A) c.307+2T>A (n.307+2T>A) | dbSNP |
| 11 | g.1759515C>A | CA379097919 | CTSD | c.352+1G>T (n.352+1G>T) c.247+1G>T (n.247+1G>T) c.331+1G>T (n.331+1G>T) c.346+1G>T (n.346+1G>T) n.2780+1G>T n.747+1G>T c.*213+1G>T (n.*213+1G>T) c.307+1G>T (n.307+1G>T) | |
| 11 | g.1759515C>G | CA379097922 | CTSD | c.352+1G>C (n.352+1G>C) c.247+1G>C (n.247+1G>C) c.331+1G>C (n.331+1G>C) c.346+1G>C (n.346+1G>C) n.2780+1G>C n.747+1G>C c.*213+1G>C (n.*213+1G>C) c.307+1G>C (n.307+1G>C) | |
| 11 | g.1759515C>T | CA379097929 | CTSD | c.352+1G>A (n.352+1G>A) c.247+1G>A (n.247+1G>A) c.331+1G>A (n.331+1G>A) c.346+1G>A (n.346+1G>A) n.2780+1G>A n.747+1G>A c.*213+1G>A (n.*213+1G>A) c.307+1G>A (n.307+1G>A) | gnomAD v4 |
| 11 | g.1759516A>C | CA379097932 | CTSD | c.352T>G (p.Trp118Gly) c.247T>G (p.Trp83Gly) c.331T>G (p.Trp111Gly) c.346T>G (p.Trp116Gly) n.2780T>G n.747T>G c.*213T>G (n.*213T>G) c.307T>G (p.Trp103Gly) | |
| 11 | g.1759516A>G | CA379097939 | CTSD | c.352T>C (p.Trp118Arg) c.247T>C (p.Trp83Arg) c.331T>C (p.Trp111Arg) c.346T>C (p.Trp116Arg) n.2780T>C n.747T>C c.*213T>C (n.*213T>C) c.307T>C (p.Trp103Arg) | |
| 11 | g.1759516A>T | CA379097935 | CTSD | c.352T>A (p.Trp118Arg) c.247T>A (p.Trp83Arg) c.331T>A (p.Trp111Arg) c.346T>A (p.Trp116Arg) n.2780T>A n.747T>A c.*213T>A (n.*213T>A) c.307T>A (p.Trp103Arg) | |
| 11 | g.1759517G>A | CA471988229 | CTSD | c.351C>T (p.Cys117=) c.246C>T (p.Cys82=) c.330C>T (p.Cys110=) c.345C>T (p.Cys115=) n.2779C>T n.746C>T c.*212C>T (n.*212C>T) c.306C>T (p.Cys102=) | gnomAD v4 |
| 11 | g.1759517G>C | CA379097941 | CTSD | c.351C>G (p.Cys117Trp) c.246C>G (p.Cys82Trp) c.330C>G (p.Cys110Trp) c.345C>G (p.Cys115Trp) n.2779C>G n.746C>G c.*212C>G (n.*212C>G) c.306C>G (p.Cys102Trp) | |
| 11 | g.1759517G>T | CA379097942 | CTSD | c.351C>A (p.Cys117Ter) c.246C>A (p.Cys82Ter) c.330C>A (p.Cys110Ter) c.345C>A (p.Cys115Ter) n.2779C>A n.746C>A c.*212C>A (n.*212C>A) c.306C>A (p.Cys102Ter) | |
| 11 | g.1759518C>A | CA379097945 | CTSD | c.350G>T (p.Cys117Phe) c.245G>T (p.Cys82Phe) c.329G>T (p.Cys110Phe) c.344G>T (p.Cys115Phe) n.2778G>T n.745G>T c.*211G>T (n.*211G>T) c.305G>T (p.Cys102Phe) | |
| 11 | g.1759518C>G | CA379097948 | CTSD | c.350G>C (p.Cys117Ser) c.245G>C (p.Cys82Ser) c.329G>C (p.Cys110Ser) c.344G>C (p.Cys115Ser) n.2778G>C n.745G>C c.*211G>C (n.*211G>C) c.305G>C (p.Cys102Ser) | |
| 11 | g.1759518C>T | CA379097950 | CTSD | c.350G>A (p.Cys117Tyr) c.245G>A (p.Cys82Tyr) c.329G>A (p.Cys110Tyr) c.344G>A (p.Cys115Tyr) n.2778G>A n.745G>A c.*211G>A (n.*211G>A) c.305G>A (p.Cys102Tyr) | |
| 11 | g.1759519A>C | CA379097955 | CTSD | c.349T>G (p.Cys117Gly) c.244T>G (p.Cys82Gly) c.328T>G (p.Cys110Gly) c.343T>G (p.Cys115Gly) n.2777T>G n.744T>G c.*210T>G (n.*210T>G) c.304T>G (p.Cys102Gly) | |
| 11 | g.1759519A>G | CA379097956 | CTSD | c.349T>C (p.Cys117Arg) c.244T>C (p.Cys82Arg) c.328T>C (p.Cys110Arg) c.343T>C (p.Cys115Arg) n.2777T>C n.744T>C c.*210T>C (n.*210T>C) c.304T>C (p.Cys102Arg) | |
| 11 | g.1759519A>T | CA379097957 | CTSD | c.349T>A (p.Cys117Ser) c.244T>A (p.Cys82Ser) c.328T>A (p.Cys110Ser) c.343T>A (p.Cys115Ser) n.2777T>A n.744T>A c.*210T>A (n.*210T>A) c.304T>A (p.Cys102Ser) | |
| 11 | g.1759520A>C | CA471988242 | CTSD | c.348T>G (p.Ala116=) c.243T>G (p.Ala81=) c.327T>G (p.Ala109=) c.342T>G (p.Ala114=) n.2776T>G n.743T>G c.*209T>G (n.*209T>G) c.303T>G (p.Ala101=) | |
| 11 | g.1759520A>G | CA471988240 | CTSD | c.348T>C (p.Ala116=) c.243T>C (p.Ala81=) c.327T>C (p.Ala109=) c.342T>C (p.Ala114=) n.2776T>C n.743T>C c.*209T>C (n.*209T>C) c.303T>C (p.Ala101=) | |
| 11 | g.1759520A>T | CA471988245 | CTSD | c.348T>A (p.Ala116=) c.243T>A (p.Ala81=) c.327T>A (p.Ala109=) c.342T>A (p.Ala114=) n.2776T>A n.743T>A c.*209T>A (n.*209T>A) c.303T>A (p.Ala101=) | |
| 11 | g.1759521G>A | CA379097960 | CTSD | c.347C>T (p.Ala116Val) c.242C>T (p.Ala81Val) c.326C>T (p.Ala109Val) c.341C>T (p.Ala114Val) n.2775C>T n.742C>T c.*208C>T (n.*208C>T) c.302C>T (p.Ala101Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759521G>C | CA379097973 | CTSD | c.347C>G (p.Ala116Gly) c.242C>G (p.Ala81Gly) c.326C>G (p.Ala109Gly) c.341C>G (p.Ala114Gly) n.2775C>G n.742C>G c.*208C>G (n.*208C>G) c.302C>G (p.Ala101Gly) | |
| 11 | g.1759521G= | CA1947834641 | CTSD | c.347C= (p.Ala116=) c.242C= (p.Ala81=) c.326C= (p.Ala109=) c.341C= (p.Ala114=) n.2775C= n.742C= c.*208C= (n.*208C=) c.302C= (p.Ala101=) | |
| 11 | g.1759521G>T | CA379097974 | CTSD | c.347C>A (p.Ala116Asp) c.242C>A (p.Ala81Asp) c.326C>A (p.Ala109Asp) c.341C>A (p.Ala114Asp) n.2775C>A n.742C>A c.*208C>A (n.*208C>A) c.302C>A (p.Ala101Asp) | |
| 11 | g.1759522C>A | CA379097975 | CTSD | c.346G>T (p.Ala116Ser) c.241G>T (p.Ala81Ser) c.325G>T (p.Ala109Ser) c.340G>T (p.Ala114Ser) n.2774G>T n.741G>T c.*207G>T (n.*207G>T) c.301G>T (p.Ala101Ser) | |
| 11 | g.1759522C= | CA1947834643 | CTSD | c.346G= (p.Ala116=) c.241G= (p.Ala81=) c.325G= (p.Ala109=) c.340G= (p.Ala114=) n.2774G= n.741G= c.*207G= (n.*207G=) c.301G= (p.Ala101=) | |
| 11 | g.1759522C>G | CA379097979 | CTSD | c.346G>C (p.Ala116Pro) c.241G>C (p.Ala81Pro) c.325G>C (p.Ala109Pro) c.340G>C (p.Ala114Pro) n.2774G>C n.741G>C c.*207G>C (n.*207G>C) c.301G>C (p.Ala101Pro) | |
| 11 | g.1759522C>T | CA5814233 | CTSD | c.346G>A (p.Ala116Thr) c.241G>A (p.Ala81Thr) c.325G>A (p.Ala109Thr) c.340G>A (p.Ala114Thr) n.2774G>A n.741G>A c.*207G>A (n.*207G>A) c.301G>A (p.Ala101Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759523G>A | CA5814234 | CTSD | c.345C>T (p.Ile115=) c.240C>T (p.Ile80=) c.324C>T (p.Ile108=) c.339C>T (p.Ile113=) n.2773C>T n.740C>T c.*206C>T (n.*206C>T) c.300C>T (p.Ile100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759523G>C | CA379097983 | CTSD | c.345C>G (p.Ile115Met) c.240C>G (p.Ile80Met) c.324C>G (p.Ile108Met) c.339C>G (p.Ile113Met) n.2773C>G n.740C>G c.*206C>G (n.*206C>G) c.300C>G (p.Ile100Met) | |
| 11 | g.1759523G= | CA1947834648 | CTSD | c.345C= (p.Ile115=) c.240C= (p.Ile80=) c.324C= (p.Ile108=) c.339C= (p.Ile113=) n.2773C= n.740C= c.*206C= (n.*206C=) c.300C= (p.Ile100=) | |
| 11 | g.1759523G>T | CA471988260 | CTSD | c.345C>A (p.Ile115=) c.240C>A (p.Ile80=) c.324C>A (p.Ile108=) c.339C>A (p.Ile113=) n.2773C>A n.740C>A c.*206C>A (n.*206C>A) c.300C>A (p.Ile100=) | |
| 11 | g.1759524A>C | CA379097987 | CTSD | c.344T>G (p.Ile115Ser) c.239T>G (p.Ile80Ser) c.323T>G (p.Ile108Ser) c.338T>G (p.Ile113Ser) n.2772T>G n.739T>G c.*205T>G (n.*205T>G) c.299T>G (p.Ile100Ser) | |
| 11 | g.1759524A>G | CA379097989 | CTSD | c.344T>C (p.Ile115Thr) c.239T>C (p.Ile80Thr) c.323T>C (p.Ile108Thr) c.338T>C (p.Ile113Thr) n.2772T>C n.739T>C c.*205T>C (n.*205T>C) c.299T>C (p.Ile100Thr) | |
| 11 | g.1759524A>T | CA379097988 | CTSD | c.344T>A (p.Ile115Asn) c.239T>A (p.Ile80Asn) c.323T>A (p.Ile108Asn) c.338T>A (p.Ile113Asn) n.2772T>A n.739T>A c.*205T>A (n.*205T>A) c.299T>A (p.Ile100Asn) | |
| 11 | g.1759525T>A | CA379097990 | CTSD | c.343A>T (p.Ile115Phe) c.238A>T (p.Ile80Phe) c.322A>T (p.Ile108Phe) c.337A>T (p.Ile113Phe) n.2771A>T n.738A>T c.*204A>T (n.*204A>T) c.298A>T (p.Ile100Phe) | |
| 11 | g.1759525T>C | CA379097993 | CTSD | c.343A>G (p.Ile115Val) c.238A>G (p.Ile80Val) c.322A>G (p.Ile108Val) c.337A>G (p.Ile113Val) n.2771A>G n.738A>G c.*204A>G (n.*204A>G) c.298A>G (p.Ile100Val) | ClinVar gnomAD v4 |
| 11 | g.1759525T>G | CA379097992 | CTSD | c.343A>C (p.Ile115Leu) c.238A>C (p.Ile80Leu) c.322A>C (p.Ile108Leu) c.337A>C (p.Ile113Leu) n.2771A>C n.738A>C c.*204A>C (n.*204A>C) c.298A>C (p.Ile100Leu) | |
| 11 | g.1759526G>A | CA216175556 | CTSD | c.342C>T (p.Asp114=) c.237C>T (p.Asp79=) c.321C>T (p.Asp107=) c.336C>T (p.Asp112=) n.2770C>T n.737C>T c.*203C>T (n.*203C>T) c.297C>T (p.Asp99=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759526G>C | CA379097995 | CTSD | c.342C>G (p.Asp114Glu) c.237C>G (p.Asp79Glu) c.321C>G (p.Asp107Glu) c.336C>G (p.Asp112Glu) n.2770C>G n.737C>G c.*203C>G (n.*203C>G) c.297C>G (p.Asp99Glu) | |
| 11 | g.1759526G= | CA1947834656 | CTSD | c.342C= (p.Asp114=) c.237C= (p.Asp79=) c.321C= (p.Asp107=) c.336C= (p.Asp112=) n.2770C= n.737C= c.*203C= (n.*203C=) c.297C= (p.Asp99=) | |
| 11 | g.1759526G>T | CA379097996 | CTSD | c.342C>A (p.Asp114Glu) c.237C>A (p.Asp79Glu) c.321C>A (p.Asp107Glu) c.336C>A (p.Asp112Glu) n.2770C>A n.737C>A c.*203C>A (n.*203C>A) c.297C>A (p.Asp99Glu) | |
| 11 | g.1759527T>A | CA379097997 | CTSD | c.341A>T (p.Asp114Val) c.236A>T (p.Asp79Val) c.320A>T (p.Asp107Val) c.335A>T (p.Asp112Val) n.2769A>T n.736A>T c.*202A>T (n.*202A>T) c.296A>T (p.Asp99Val) | |
| 11 | g.1759527T>C | CA379097998 | CTSD | c.341A>G (p.Asp114Gly) c.236A>G (p.Asp79Gly) c.320A>G (p.Asp107Gly) c.335A>G (p.Asp112Gly) n.2769A>G n.736A>G c.*202A>G (n.*202A>G) c.296A>G (p.Asp99Gly) | |
| 11 | g.1759527T>G | CA379097999 | CTSD | c.341A>C (p.Asp114Ala) c.236A>C (p.Asp79Ala) c.320A>C (p.Asp107Ala) c.335A>C (p.Asp112Ala) n.2769A>C n.736A>C c.*202A>C (n.*202A>C) c.296A>C (p.Asp99Ala) | |
| 11 | g.1759528C>A | CA379098003 | CTSD | c.340G>T (p.Asp114Tyr) c.235G>T (p.Asp79Tyr) c.319G>T (p.Asp107Tyr) c.334G>T (p.Asp112Tyr) n.2768G>T n.735G>T c.*201G>T (n.*201G>T) c.295G>T (p.Asp99Tyr) | |
| 11 | g.1759528C>G | CA379098007 | CTSD | c.340G>C (p.Asp114His) c.235G>C (p.Asp79His) c.319G>C (p.Asp107His) c.334G>C (p.Asp112His) n.2768G>C n.735G>C c.*201G>C (n.*201G>C) c.295G>C (p.Asp99His) | |
| 11 | g.1759528C>T | CA379098010 | CTSD | c.340G>A (p.Asp114Asn) c.235G>A (p.Asp79Asn) c.319G>A (p.Asp107Asn) c.334G>A (p.Asp112Asn) n.2768G>A n.735G>A c.*201G>A (n.*201G>A) c.295G>A (p.Asp99Asn) | |
| 11 | g.1759529C>A | CA471988280 | CTSD | c.339G>T (p.Leu113=) c.234G>T (p.Leu78=) c.318G>T (p.Leu106=) c.333G>T (p.Leu111=) n.2767G>T n.734G>T c.*200G>T (n.*200G>T) c.294G>T (p.Leu98=) | |
| 11 | g.1759529C>G | CA471988281 | CTSD | c.339G>C (p.Leu113=) c.234G>C (p.Leu78=) c.318G>C (p.Leu106=) c.333G>C (p.Leu111=) n.2767G>C n.734G>C c.*200G>C (n.*200G>C) c.294G>C (p.Leu98=) | |
| 11 | g.1759529C>T | CA471988283 | CTSD | c.339G>A (p.Leu113=) c.234G>A (p.Leu78=) c.318G>A (p.Leu106=) c.333G>A (p.Leu111=) n.2767G>A n.734G>A c.*200G>A (n.*200G>A) c.294G>A (p.Leu98=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759530A>C | CA379098030 | CTSD | c.338T>G (p.Leu113Arg) c.233T>G (p.Leu78Arg) c.317T>G (p.Leu106Arg) c.332T>G (p.Leu111Arg) n.2766T>G n.733T>G c.*199T>G (n.*199T>G) c.293T>G (p.Leu98Arg) | |
| 11 | g.1759530A>G | CA379098032 | CTSD | c.338T>C (p.Leu113Pro) c.233T>C (p.Leu78Pro) c.317T>C (p.Leu106Pro) c.332T>C (p.Leu111Pro) n.2766T>C n.733T>C c.*199T>C (n.*199T>C) c.293T>C (p.Leu98Pro) | |
| 11 | g.1759530A>T | CA379098038 | CTSD | c.338T>A (p.Leu113Gln) c.233T>A (p.Leu78Gln) c.317T>A (p.Leu106Gln) c.332T>A (p.Leu111Gln) n.2766T>A n.733T>A c.*199T>A (n.*199T>A) c.293T>A (p.Leu98Gln) | |
| 11 | g.1759531G>A | CA471988293 | CTSD | c.337C>T (p.Leu113=) c.232C>T (p.Leu78=) c.316C>T (p.Leu106=) c.331C>T (p.Leu111=) n.2765C>T n.732C>T c.*198C>T (n.*198C>T) c.292C>T (p.Leu98=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759531G>C | CA379098051 | CTSD | c.337C>G (p.Leu113Val) c.232C>G (p.Leu78Val) c.316C>G (p.Leu106Val) c.331C>G (p.Leu111Val) n.2765C>G n.732C>G c.*198C>G (n.*198C>G) c.292C>G (p.Leu98Val) | gnomAD v4 |
| 11 | g.1759531G= | CA1947834659 | CTSD | c.337C= (p.Leu113=) c.232C= (p.Leu78=) c.316C= (p.Leu106=) c.331C= (p.Leu111=) n.2765C= n.732C= c.*198C= (n.*198C=) c.292C= (p.Leu98=) | |
| 11 | g.1759531G>T | CA379098054 | CTSD | c.337C>A (p.Leu113Met) c.232C>A (p.Leu78Met) c.316C>A (p.Leu106Met) c.331C>A (p.Leu111Met) n.2765C>A n.732C>A c.*198C>A (n.*198C>A) c.292C>A (p.Leu98Met) | |
| 11 | g.1759532C>A | CA471988299 | CTSD | c.336G>T (p.Leu112=) c.231G>T (p.Leu77=) c.315G>T (p.Leu105=) c.330G>T (p.Leu110=) n.2764G>T n.731G>T c.*197G>T (n.*197G>T) c.291G>T (p.Leu97=) | |
| 11 | g.1759532C>G | CA471988296 | CTSD | c.336G>C (p.Leu112=) c.231G>C (p.Leu77=) c.315G>C (p.Leu105=) c.330G>C (p.Leu110=) n.2764G>C n.731G>C c.*197G>C (n.*197G>C) c.291G>C (p.Leu97=) | |
| 11 | g.1759532C>T | CA471988297 | CTSD | c.336G>A (p.Leu112=) c.231G>A (p.Leu77=) c.315G>A (p.Leu105=) c.330G>A (p.Leu110=) n.2764G>A n.731G>A c.*197G>A (n.*197G>A) c.291G>A (p.Leu97=) | |
| 11 | g.1759533A>C | CA379098057 | CTSD | c.335T>G (p.Leu112Arg) c.230T>G (p.Leu77Arg) c.314T>G (p.Leu105Arg) c.329T>G (p.Leu110Arg) n.2763T>G n.730T>G c.*196T>G (n.*196T>G) c.290T>G (p.Leu97Arg) | gnomAD v4 |
| 11 | g.1759533A>G | CA379098059 | CTSD | c.335T>C (p.Leu112Pro) c.230T>C (p.Leu77Pro) c.314T>C (p.Leu105Pro) c.329T>C (p.Leu110Pro) n.2763T>C n.730T>C c.*196T>C (n.*196T>C) c.290T>C (p.Leu97Pro) | |
| 11 | g.1759533A>T | CA379098061 | CTSD | c.335T>A (p.Leu112Gln) c.230T>A (p.Leu77Gln) c.314T>A (p.Leu105Gln) c.329T>A (p.Leu110Gln) n.2763T>A n.730T>A c.*196T>A (n.*196T>A) c.290T>A (p.Leu97Gln) | |
| 11 | g.1759534G>A | CA471988305 | CTSD | c.334C>T (p.Leu112=) c.229C>T (p.Leu77=) c.313C>T (p.Leu105=) c.328C>T (p.Leu110=) n.2762C>T n.729C>T c.*195C>T (n.*195C>T) c.289C>T (p.Leu97=) | |
| 11 | g.1759534G>C | CA379098066 | CTSD | c.334C>G (p.Leu112Val) c.229C>G (p.Leu77Val) c.313C>G (p.Leu105Val) c.328C>G (p.Leu110Val) n.2762C>G n.729C>G c.*195C>G (n.*195C>G) c.289C>G (p.Leu97Val) | |
| 11 | g.1759534G>T | CA379098067 | CTSD | c.334C>A (p.Leu112Met) c.229C>A (p.Leu77Met) c.313C>A (p.Leu105Met) c.328C>A (p.Leu110Met) n.2762C>A n.729C>A c.*195C>A (n.*195C>A) c.289C>A (p.Leu97Met) | |
| 11 | g.1759535T>A | CA379098071 | CTSD | c.333A>T (p.Lys111Asn) c.228A>T (p.Lys76Asn) c.312A>T (p.Lys104Asn) c.327A>T (p.Lys109Asn) n.2761A>T n.728A>T c.*194A>T (n.*194A>T) c.288A>T (p.Lys96Asn) | |
| 11 | g.1759535T>C | CA471988309 | CTSD | c.333A>G (p.Lys111=) c.228A>G (p.Lys76=) c.312A>G (p.Lys104=) c.327A>G (p.Lys109=) n.2761A>G n.728A>G c.*194A>G (n.*194A>G) c.288A>G (p.Lys96=) | |
| 11 | g.1759535T>G | CA379098073 | CTSD | c.333A>C (p.Lys111Asn) c.228A>C (p.Lys76Asn) c.312A>C (p.Lys104Asn) c.327A>C (p.Lys109Asn) n.2761A>C n.728A>C c.*194A>C (n.*194A>C) c.288A>C (p.Lys96Asn) | |
| 11 | g.1759536T>A | CA379098076 | CTSD | c.332A>T (p.Lys111Ile) c.227A>T (p.Lys76Ile) c.311A>T (p.Lys104Ile) c.326A>T (p.Lys109Ile) n.2760A>T n.727A>T c.*193A>T (n.*193A>T) c.287A>T (p.Lys96Ile) | |
| 11 | g.1759536T>C | CA379098078 | CTSD | c.332A>G (p.Lys111Arg) c.227A>G (p.Lys76Arg) c.311A>G (p.Lys104Arg) c.326A>G (p.Lys109Arg) n.2760A>G n.727A>G c.*193A>G (n.*193A>G) c.287A>G (p.Lys96Arg) | gnomAD v4 |
| 11 | g.1759536T>G | CA379098082 | CTSD | c.332A>C (p.Lys111Thr) c.227A>C (p.Lys76Thr) c.311A>C (p.Lys104Thr) c.326A>C (p.Lys109Thr) n.2760A>C n.727A>C c.*193A>C (n.*193A>C) c.287A>C (p.Lys96Thr) | |
| 11 | g.1759537T>A | CA379098094 | CTSD | c.331A>T (p.Lys111Ter) c.226A>T (p.Lys76Ter) c.310A>T (p.Lys104Ter) c.325A>T (p.Lys109Ter) n.2759A>T n.726A>T c.*192A>T (n.*192A>T) c.286A>T (p.Lys96Ter) | |
| 11 | g.1759537T>C | CA379098103 | CTSD | c.331A>G (p.Lys111Glu) c.226A>G (p.Lys76Glu) c.310A>G (p.Lys104Glu) c.325A>G (p.Lys109Glu) n.2759A>G n.726A>G c.*192A>G (n.*192A>G) c.286A>G (p.Lys96Glu) | |
| 11 | g.1759537T>G | CA379098091 | CTSD | c.331A>C (p.Lys111Gln) c.226A>C (p.Lys76Gln) c.310A>C (p.Lys104Gln) c.325A>C (p.Lys109Gln) n.2759A>C n.726A>C c.*192A>C (n.*192A>C) c.286A>C (p.Lys96Gln) | |
| 11 | g.1759538G>A | CA471988320 | CTSD | c.330C>T (p.Cys110=) c.225C>T (p.Cys75=) c.309C>T (p.Cys103=) c.324C>T (p.Cys108=) n.2758C>T n.725C>T c.*191C>T (n.*191C>T) c.285C>T (p.Cys95=) | ClinVar |
| 11 | g.1759538G>C | CA379098107 | CTSD | c.330C>G (p.Cys110Trp) c.225C>G (p.Cys75Trp) c.309C>G (p.Cys103Trp) c.324C>G (p.Cys108Trp) n.2758C>G n.725C>G c.*191C>G (n.*191C>G) c.285C>G (p.Cys95Trp) | |
| 11 | g.1759538G>T | CA379098114 | CTSD | c.330C>A (p.Cys110Ter) c.225C>A (p.Cys75Ter) c.309C>A (p.Cys103Ter) c.324C>A (p.Cys108Ter) n.2758C>A n.725C>A c.*191C>A (n.*191C>A) c.285C>A (p.Cys95Ter) | |
| 11 | g.1759539C>A | CA379098116 | CTSD | c.329G>T (p.Cys110Phe) c.224G>T (p.Cys75Phe) c.308G>T (p.Cys103Phe) c.323G>T (p.Cys108Phe) n.2757G>T n.724G>T c.*190G>T (n.*190G>T) c.284G>T (p.Cys95Phe) | |
| 11 | g.1759539C>G | CA379098117 | CTSD | c.329G>C (p.Cys110Ser) c.224G>C (p.Cys75Ser) c.308G>C (p.Cys103Ser) c.323G>C (p.Cys108Ser) n.2757G>C n.724G>C c.*190G>C (n.*190G>C) c.284G>C (p.Cys95Ser) | |
| 11 | g.1759539C>T | CA379098118 | CTSD | c.329G>A (p.Cys110Tyr) c.224G>A (p.Cys75Tyr) c.308G>A (p.Cys103Tyr) c.323G>A (p.Cys108Tyr) n.2757G>A n.724G>A c.*190G>A (n.*190G>A) c.284G>A (p.Cys95Tyr) | |
| 11 | g.1759540A>C | CA379098132 | CTSD | c.328T>G (p.Cys110Gly) c.223T>G (p.Cys75Gly) c.307T>G (p.Cys103Gly) c.322T>G (p.Cys108Gly) n.2756T>G n.723T>G c.*189T>G (n.*189T>G) c.283T>G (p.Cys95Gly) | |
| 11 | g.1759540A>G | CA379098121 | CTSD | c.328T>C (p.Cys110Arg) c.223T>C (p.Cys75Arg) c.307T>C (p.Cys103Arg) c.322T>C (p.Cys108Arg) n.2756T>C n.723T>C c.*189T>C (n.*189T>C) c.283T>C (p.Cys95Arg) | gnomAD v4 |
| 11 | g.1759540A>T | CA379098130 | CTSD | c.328T>A (p.Cys110Ser) c.223T>A (p.Cys75Ser) c.307T>A (p.Cys103Ser) c.322T>A (p.Cys108Ser) n.2756T>A n.723T>A c.*189T>A (n.*189T>A) c.283T>A (p.Cys95Ser) | |
| 11 | g.1759541G>A | CA471988328 | CTSD | c.327C>T (p.His109=) c.222C>T (p.His74=) c.306C>T (p.His102=) c.321C>T (p.His107=) n.2755C>T n.722C>T c.*188C>T (n.*188C>T) c.282C>T (p.His94=) | |
| 11 | g.1759541G>C | CA379098138 | CTSD | c.327C>G (p.His109Gln) c.222C>G (p.His74Gln) c.306C>G (p.His102Gln) c.321C>G (p.His107Gln) n.2755C>G n.722C>G c.*188C>G (n.*188C>G) c.282C>G (p.His94Gln) | |
| 11 | g.1759541G>T | CA379098140 | CTSD | c.327C>A (p.His109Gln) c.222C>A (p.His74Gln) c.306C>A (p.His102Gln) c.321C>A (p.His107Gln) n.2755C>A n.722C>A c.*188C>A (n.*188C>A) c.282C>A (p.His94Gln) | |
| 11 | g.1759542T>A | CA379098143 | CTSD | c.326A>T (p.His109Leu) c.221A>T (p.His74Leu) c.305A>T (p.His102Leu) c.320A>T (p.His107Leu) n.2754A>T n.721A>T c.*187A>T (n.*187A>T) c.281A>T (p.His94Leu) | |
| 11 | g.1759542T>C | CA216175562 | CTSD | c.326A>G (p.His109Arg) c.221A>G (p.His74Arg) c.305A>G (p.His102Arg) c.320A>G (p.His107Arg) n.2754A>G n.721A>G c.*187A>G (n.*187A>G) c.281A>G (p.His94Arg) | dbSNP gnomAD v4 |
| 11 | g.1759542T>G | CA379098144 | CTSD | c.326A>C (p.His109Pro) c.221A>C (p.His74Pro) c.305A>C (p.His102Pro) c.320A>C (p.His107Pro) n.2754A>C n.721A>C c.*187A>C (n.*187A>C) c.281A>C (p.His94Pro) | |
| 11 | g.1759542T= | CA1947834664 | CTSD | c.326A= (p.His109=) c.221A= (p.His74=) c.305A= (p.His102=) c.320A= (p.His107=) n.2754A= n.721A= c.*187A= (n.*187A=) c.281A= (p.His94=) | |
| 11 | g.1759543G>A | CA379098145 | CTSD | c.325C>T (p.His109Tyr) c.220C>T (p.His74Tyr) c.304C>T (p.His102Tyr) c.319C>T (p.His107Tyr) n.2753C>T n.720C>T c.*186C>T (n.*186C>T) c.280C>T (p.His94Tyr) | |
| 11 | g.1759543G>C | CA379098148 | CTSD | c.325C>G (p.His109Asp) c.220C>G (p.His74Asp) c.304C>G (p.His102Asp) c.319C>G (p.His107Asp) n.2753C>G n.720C>G c.*186C>G (n.*186C>G) c.280C>G (p.His94Asp) | |
| 11 | g.1759543G>T | CA379098146 | CTSD | c.325C>A (p.His109Asn) c.220C>A (p.His74Asn) c.304C>A (p.His102Asn) c.319C>A (p.His107Asn) n.2753C>A n.720C>A c.*186C>A (n.*186C>A) c.280C>A (p.His94Asn) | |
| 11 | g.1759544G>A | CA471988340 | CTSD | c.324C>T (p.Ile108=) c.219C>T (p.Ile73=) c.303C>T (p.Ile101=) c.318C>T (p.Ile106=) n.2752C>T n.719C>T c.*185C>T (n.*185C>T) c.279C>T (p.Ile93=) | |
| 11 | g.1759544G>C | CA379098162 | CTSD | c.324C>G (p.Ile108Met) c.219C>G (p.Ile73Met) c.303C>G (p.Ile101Met) c.318C>G (p.Ile106Met) n.2752C>G n.719C>G c.*185C>G (n.*185C>G) c.279C>G (p.Ile93Met) | |
| 11 | g.1759544G>T | CA471988338 | CTSD | c.324C>A (p.Ile108=) c.219C>A (p.Ile73=) c.303C>A (p.Ile101=) c.318C>A (p.Ile106=) n.2752C>A n.719C>A c.*185C>A (n.*185C>A) c.279C>A (p.Ile93=) | |
| 11 | g.1759545A>C | CA379098167 | CTSD | c.323T>G (p.Ile108Ser) c.218T>G (p.Ile73Ser) c.302T>G (p.Ile101Ser) c.317T>G (p.Ile106Ser) n.2751T>G n.718T>G c.*184T>G (n.*184T>G) c.278T>G (p.Ile93Ser) | |
| 11 | g.1759545A>G | CA379098169 | CTSD | c.323T>C (p.Ile108Thr) c.218T>C (p.Ile73Thr) c.302T>C (p.Ile101Thr) c.317T>C (p.Ile106Thr) n.2751T>C n.718T>C c.*184T>C (n.*184T>C) c.278T>C (p.Ile93Thr) | |
| 11 | g.1759545A>T | CA379098171 | CTSD | c.323T>A (p.Ile108Asn) c.218T>A (p.Ile73Asn) c.302T>A (p.Ile101Asn) c.317T>A (p.Ile106Asn) n.2751T>A n.718T>A c.*184T>A (n.*184T>A) c.278T>A (p.Ile93Asn) | |
| 11 | g.1759546T>A | CA379098174 | CTSD | c.322A>T (p.Ile108Phe) c.217A>T (p.Ile73Phe) c.301A>T (p.Ile101Phe) c.316A>T (p.Ile106Phe) n.2750A>T n.717A>T c.*183A>T (n.*183A>T) c.277A>T (p.Ile93Phe) | |
| 11 | g.1759546T>C | CA379098176 | CTSD | c.322A>G (p.Ile108Val) c.217A>G (p.Ile73Val) c.301A>G (p.Ile101Val) c.316A>G (p.Ile106Val) n.2750A>G n.717A>G c.*183A>G (n.*183A>G) c.277A>G (p.Ile93Val) | |
| 11 | g.1759546T>G | CA379098177 | CTSD | c.322A>C (p.Ile108Leu) c.217A>C (p.Ile73Leu) c.301A>C (p.Ile101Leu) c.316A>C (p.Ile106Leu) n.2750A>C n.717A>C c.*183A>C (n.*183A>C) c.277A>C (p.Ile93Leu) | |
| 11 | g.1759547G>A | CA5814235 | CTSD | c.321C>T (p.Ser107=) c.216C>T (p.Ser72=) c.300C>T (p.Ser100=) c.315C>T (p.Ser105=) n.2749C>T n.716C>T c.*182C>T (n.*182C>T) c.276C>T (p.Ser92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759547G>C | CA471988350 | CTSD | c.321C>G (p.Ser107=) c.216C>G (p.Ser72=) c.300C>G (p.Ser100=) c.315C>G (p.Ser105=) n.2749C>G n.716C>G c.*182C>G (n.*182C>G) c.276C>G (p.Ser92=) | |
| 11 | g.1759547G= | CA1947834665 | CTSD | c.321C= (p.Ser107=) c.216C= (p.Ser72=) c.300C= (p.Ser100=) c.315C= (p.Ser105=) n.2749C= n.716C= c.*182C= (n.*182C=) c.276C= (p.Ser92=) | |
| 11 | g.1759547G>T | CA471988348 | CTSD | c.321C>A (p.Ser107=) c.216C>A (p.Ser72=) c.300C>A (p.Ser100=) c.315C>A (p.Ser105=) n.2749C>A n.716C>A c.*182C>A (n.*182C>A) c.276C>A (p.Ser92=) | |
| 11 | g.1759548G>A | CA379098183 | CTSD | c.320C>T (p.Ser107Phe) c.215C>T (p.Ser72Phe) c.299C>T (p.Ser100Phe) c.314C>T (p.Ser105Phe) n.2748C>T n.715C>T c.*181C>T (n.*181C>T) c.275C>T (p.Ser92Phe) | dbSNP gnomAD v4 |
| 11 | g.1759548G>C | CA379098187 | CTSD | c.320C>G (p.Ser107Cys) c.215C>G (p.Ser72Cys) c.299C>G (p.Ser100Cys) c.314C>G (p.Ser105Cys) n.2748C>G n.715C>G c.*181C>G (n.*181C>G) c.275C>G (p.Ser92Cys) | COSMIC |
| 11 | g.1759548G= | CA1947834668 | CTSD | c.320C= (p.Ser107=) c.215C= (p.Ser72=) c.299C= (p.Ser100=) c.314C= (p.Ser105=) n.2748C= n.715C= c.*181C= (n.*181C=) c.275C= (p.Ser92=) | |
| 11 | g.1759548G>T | CA379098190 | CTSD | c.320C>A (p.Ser107Tyr) c.215C>A (p.Ser72Tyr) c.299C>A (p.Ser100Tyr) c.314C>A (p.Ser105Tyr) n.2748C>A n.715C>A c.*181C>A (n.*181C>A) c.275C>A (p.Ser92Tyr) | |
| 11 | g.1759549A>C | CA379098198 | CTSD | c.319T>G (p.Ser107Ala) c.214T>G (p.Ser72Ala) c.298T>G (p.Ser100Ala) c.313T>G (p.Ser105Ala) n.2747T>G n.714T>G c.*180T>G (n.*180T>G) c.274T>G (p.Ser92Ala) | |
| 11 | g.1759549A>G | CA379098196 | CTSD | c.319T>C (p.Ser107Pro) c.214T>C (p.Ser72Pro) c.298T>C (p.Ser100Pro) c.313T>C (p.Ser105Pro) n.2747T>C n.714T>C c.*180T>C (n.*180T>C) c.274T>C (p.Ser92Pro) | |
| 11 | g.1759549A>T | CA379098194 | CTSD | c.319T>A (p.Ser107Thr) c.214T>A (p.Ser72Thr) c.298T>A (p.Ser100Thr) c.313T>A (p.Ser105Thr) n.2747T>A n.714T>A c.*180T>A (n.*180T>A) c.274T>A (p.Ser92Thr) | |
| 11 | g.1759550G>A | CA471988360 | CTSD | c.318C>T (p.Pro106=) c.213C>T (p.Pro71=) c.297C>T (p.Pro99=) c.312C>T (p.Pro104=) n.2746C>T n.713C>T c.*179C>T (n.*179C>T) c.273C>T (p.Pro91=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759550G>C | CA471988362 | CTSD | c.318C>G (p.Pro106=) c.213C>G (p.Pro71=) c.297C>G (p.Pro99=) c.312C>G (p.Pro104=) n.2746C>G n.713C>G c.*179C>G (n.*179C>G) c.273C>G (p.Pro91=) | |
| 11 | g.1759550G= | CA1947834669 | CTSD | c.318C= (p.Pro106=) c.213C= (p.Pro71=) c.297C= (p.Pro99=) c.312C= (p.Pro104=) n.2746C= n.713C= c.*179C= (n.*179C=) c.273C= (p.Pro91=) | |
| 11 | g.1759550G>T | CA471988363 | CTSD | c.318C>A (p.Pro106=) c.213C>A (p.Pro71=) c.297C>A (p.Pro99=) c.312C>A (p.Pro104=) n.2746C>A n.713C>A c.*179C>A (n.*179C>A) c.273C>A (p.Pro91=) | |
| 11 | g.1759551G>A | CA379098203 | CTSD | c.317C>T (p.Pro106Leu) c.212C>T (p.Pro71Leu) c.296C>T (p.Pro99Leu) c.311C>T (p.Pro104Leu) n.2745C>T n.712C>T c.*178C>T (n.*178C>T) c.272C>T (p.Pro91Leu) | |
| 11 | g.1759551G>C | CA379098209 | CTSD | c.317C>G (p.Pro106Arg) c.212C>G (p.Pro71Arg) c.296C>G (p.Pro99Arg) c.311C>G (p.Pro104Arg) n.2745C>G n.712C>G c.*178C>G (n.*178C>G) c.272C>G (p.Pro91Arg) | |
| 11 | g.1759551G>T | CA379098206 | CTSD | c.317C>A (p.Pro106His) c.212C>A (p.Pro71His) c.296C>A (p.Pro99His) c.311C>A (p.Pro104His) n.2745C>A n.712C>A c.*178C>A (n.*178C>A) c.272C>A (p.Pro91His) | |
| 11 | g.1759552G>A | CA379098212 | CTSD | c.316C>T (p.Pro106Ser) c.211C>T (p.Pro71Ser) c.295C>T (p.Pro99Ser) c.310C>T (p.Pro104Ser) n.2744C>T n.711C>T c.*177C>T (n.*177C>T) c.271C>T (p.Pro91Ser) | |
| 11 | g.1759552G>C | CA379098216 | CTSD | c.316C>G (p.Pro106Ala) c.211C>G (p.Pro71Ala) c.295C>G (p.Pro99Ala) c.310C>G (p.Pro104Ala) n.2744C>G n.711C>G c.*177C>G (n.*177C>G) c.271C>G (p.Pro91Ala) | |
| 11 | g.1759552G>T | CA379098219 | CTSD | c.316C>A (p.Pro106Thr) c.211C>A (p.Pro71Thr) c.295C>A (p.Pro99Thr) c.310C>A (p.Pro104Thr) n.2744C>A n.711C>A c.*177C>A (n.*177C>A) c.271C>A (p.Pro91Thr) | |
| 11 | g.1759553G>A | CA471988371 | CTSD | c.315C>T (p.Val105=) c.210C>T (p.Val70=) c.294C>T (p.Val98=) c.309C>T (p.Val103=) n.2743C>T n.710C>T c.*176C>T (n.*176C>T) c.270C>T (p.Val90=) | |
| 11 | g.1759553G>C | CA471988373 | CTSD | c.315C>G (p.Val105=) c.210C>G (p.Val70=) c.294C>G (p.Val98=) c.309C>G (p.Val103=) n.2743C>G n.710C>G c.*176C>G (n.*176C>G) c.270C>G (p.Val90=) | |
| 11 | g.1759553G= | CA1947834671 | CTSD | c.315C= (p.Val105=) c.210C= (p.Val70=) c.294C= (p.Val98=) c.309C= (p.Val103=) n.2743C= n.710C= c.*176C= (n.*176C=) c.270C= (p.Val90=) | |
| 11 | g.1759553G>T | CA471988375 | CTSD | c.315C>A (p.Val105=) c.210C>A (p.Val70=) c.294C>A (p.Val98=) c.309C>A (p.Val103=) n.2743C>A n.710C>A c.*176C>A (n.*176C>A) c.270C>A (p.Val90=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759554A= | CA1947834676 | CTSD | c.314T= (p.Val105=) c.209T= (p.Val70=) c.293T= (p.Val98=) c.308T= (p.Val103=) n.2742T= n.709T= c.*175T= (n.*175T=) c.269T= (p.Val90=) | |
| 11 | g.1759554A>C | CA379098222 | CTSD | c.314T>G (p.Val105Gly) c.209T>G (p.Val70Gly) c.293T>G (p.Val98Gly) c.308T>G (p.Val103Gly) n.2742T>G n.709T>G c.*175T>G (n.*175T>G) c.269T>G (p.Val90Gly) | |
| 11 | g.1759554A>G | CA379098225 | CTSD | c.314T>C (p.Val105Ala) c.209T>C (p.Val70Ala) c.293T>C (p.Val98Ala) c.308T>C (p.Val103Ala) n.2742T>C n.709T>C c.*175T>C (n.*175T>C) c.269T>C (p.Val90Ala) | gnomAD v4 |
| 11 | g.1759554A>T | CA379098227 | CTSD | c.314T>A (p.Val105Asp) c.209T>A (p.Val70Asp) c.293T>A (p.Val98Asp) c.308T>A (p.Val103Asp) n.2742T>A n.709T>A c.*175T>A (n.*175T>A) c.269T>A (p.Val90Asp) | |
| 11 | g.1759555C>A | CA379098232 | CTSD | c.313G>T (p.Val105Phe) c.208G>T (p.Val70Phe) c.292G>T (p.Val98Phe) c.307G>T (p.Val103Phe) n.2741G>T n.708G>T c.*174G>T (n.*174G>T) c.268G>T (p.Val90Phe) | |
| 11 | g.1759555C= | CA1947834678 | CTSD | c.313G= (p.Val105=) c.208G= (p.Val70=) c.292G= (p.Val98=) c.307G= (p.Val103=) n.2741G= n.708G= c.*174G= (n.*174G=) c.268G= (p.Val90=) | |
| 11 | g.1759555C>G | CA379098245 | CTSD | c.313G>C (p.Val105Leu) c.208G>C (p.Val70Leu) c.292G>C (p.Val98Leu) c.307G>C (p.Val103Leu) n.2741G>C n.708G>C c.*174G>C (n.*174G>C) c.268G>C (p.Val90Leu) | |
| 11 | g.1759555C>T | CA216175568 | CTSD | c.313G>A (p.Val105Ile) c.208G>A (p.Val70Ile) c.292G>A (p.Val98Ile) c.307G>A (p.Val103Ile) n.2741G>A n.708G>A c.*174G>A (n.*174G>A) c.268G>A (p.Val90Ile) | ClinVar dbSNP |
| 11 | g.1759557_1759574dup | CA1947834679 | CTSD | c.296_313dup (p.Trp104_Val105insGlySerSerAsnLeuTrp) c.191_208dup (p.Trp69_Val70insGlySerSerAsnLeuTrp) c.275_292dup (p.Trp97_Val98insGlySerSerAsnLeuTrp) c.290_307dup (p.Trp102_Val103insGlySerSerAsnLeuTrp) n.2724_2741dup n.691_708dup c.*157_*174dup (n.*157_*174dup) c.251_268dup (p.Trp89_Val90insGlySerSerAsnLeuTrp) | dbSNP |
| 11 | g.1759556C>A | CA379098249 | CTSD | c.312G>T (p.Trp104Cys) c.207G>T (p.Trp69Cys) c.291G>T (p.Trp97Cys) c.306G>T (p.Trp102Cys) n.2740G>T n.707G>T c.*173G>T (n.*173G>T) c.267G>T (p.Trp89Cys) | gnomAD v4 |
| 11 | g.1759556C>G | CA379098252 | CTSD | c.312G>C (p.Trp104Cys) c.207G>C (p.Trp69Cys) c.291G>C (p.Trp97Cys) c.306G>C (p.Trp102Cys) n.2740G>C n.707G>C c.*173G>C (n.*173G>C) c.267G>C (p.Trp89Cys) | |
| 11 | g.1759556C>T | CA379098256 | CTSD | c.312G>A (p.Trp104Ter) c.207G>A (p.Trp69Ter) c.291G>A (p.Trp97Ter) c.306G>A (p.Trp102Ter) n.2740G>A n.707G>A c.*173G>A (n.*173G>A) c.267G>A (p.Trp89Ter) | |
| 11 | g.1759557C>A | CA379098261 | CTSD | c.311G>T (p.Trp104Leu) c.206G>T (p.Trp69Leu) c.290G>T (p.Trp97Leu) c.305G>T (p.Trp102Leu) n.2739G>T n.706G>T c.*172G>T (n.*172G>T) c.266G>T (p.Trp89Leu) | |
| 11 | g.1759557C>G | CA379098257 | CTSD | c.311G>C (p.Trp104Ser) c.206G>C (p.Trp69Ser) c.290G>C (p.Trp97Ser) c.305G>C (p.Trp102Ser) n.2739G>C n.706G>C c.*172G>C (n.*172G>C) c.266G>C (p.Trp89Ser) | |
| 11 | g.1759557C>T | CA379098258 | CTSD | c.311G>A (p.Trp104Ter) c.206G>A (p.Trp69Ter) c.290G>A (p.Trp97Ter) c.305G>A (p.Trp102Ter) n.2739G>A n.706G>A c.*172G>A (n.*172G>A) c.266G>A (p.Trp89Ter) | |
| 11 | g.1759558A>C | CA379098272 | CTSD | c.310T>G (p.Trp104Gly) c.205T>G (p.Trp69Gly) c.289T>G (p.Trp97Gly) c.304T>G (p.Trp102Gly) n.2738T>G n.705T>G c.*171T>G (n.*171T>G) c.265T>G (p.Trp89Gly) | |
| 11 | g.1759558A>G | CA379098274 | CTSD | c.310T>C (p.Trp104Arg) c.205T>C (p.Trp69Arg) c.289T>C (p.Trp97Arg) c.304T>C (p.Trp102Arg) n.2738T>C n.705T>C c.*171T>C (n.*171T>C) c.265T>C (p.Trp89Arg) | |
| 11 | g.1759558A>T | CA379098277 | CTSD | c.310T>A (p.Trp104Arg) c.205T>A (p.Trp69Arg) c.289T>A (p.Trp97Arg) c.304T>A (p.Trp102Arg) n.2738T>A n.705T>A c.*171T>A (n.*171T>A) c.265T>A (p.Trp89Arg) | |
| 11 | g.1759559C>A | CA471988394 | CTSD | c.309G>T (p.Leu103=) c.204G>T (p.Leu68=) c.288G>T (p.Leu96=) c.303G>T (p.Leu101=) n.2737G>T n.704G>T c.*170G>T (n.*170G>T) c.264G>T (p.Leu88=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759559C= | CA1947834682 | CTSD | c.309G= (p.Leu103=) c.204G= (p.Leu68=) c.288G= (p.Leu96=) c.303G= (p.Leu101=) n.2737G= n.704G= c.*170G= (n.*170G=) c.264G= (p.Leu88=) | |
| 11 | g.1759559C>G | CA471988395 | CTSD | c.309G>C (p.Leu103=) c.204G>C (p.Leu68=) c.288G>C (p.Leu96=) c.303G>C (p.Leu101=) n.2737G>C n.704G>C c.*170G>C (n.*170G>C) c.264G>C (p.Leu88=) | |
| 11 | g.1759559C>T | CA471988392 | CTSD | c.309G>A (p.Leu103=) c.204G>A (p.Leu68=) c.288G>A (p.Leu96=) c.303G>A (p.Leu101=) n.2737G>A n.704G>A c.*170G>A (n.*170G>A) c.264G>A (p.Leu88=) | gnomAD v4 |
| 11 | g.1759560A>C | CA379098280 | CTSD | c.308T>G (p.Leu103Arg) c.203T>G (p.Leu68Arg) c.287T>G (p.Leu96Arg) c.302T>G (p.Leu101Arg) n.2736T>G n.703T>G c.*169T>G (n.*169T>G) c.263T>G (p.Leu88Arg) | |
| 11 | g.1759560A>G | CA379098282 | CTSD | c.308T>C (p.Leu103Pro) c.203T>C (p.Leu68Pro) c.287T>C (p.Leu96Pro) c.302T>C (p.Leu101Pro) n.2736T>C n.703T>C c.*169T>C (n.*169T>C) c.263T>C (p.Leu88Pro) | gnomAD v4 |
| 11 | g.1759560A>T | CA379098284 | CTSD | c.308T>A (p.Leu103Gln) c.203T>A (p.Leu68Gln) c.287T>A (p.Leu96Gln) c.302T>A (p.Leu101Gln) n.2736T>A n.703T>A c.*169T>A (n.*169T>A) c.263T>A (p.Leu88Gln) | |
| 11 | g.1759561G>A | CA5814236 | CTSD | c.307C>T (p.Leu103=) c.202C>T (p.Leu68=) c.286C>T (p.Leu96=) c.301C>T (p.Leu101=) n.2735C>T n.702C>T c.*168C>T (n.*168C>T) c.262C>T (p.Leu88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759561G>C | CA5814237 | CTSD | c.307C>G (p.Leu103Val) c.202C>G (p.Leu68Val) c.286C>G (p.Leu96Val) c.301C>G (p.Leu101Val) n.2735C>G n.702C>G c.*168C>G (n.*168C>G) c.262C>G (p.Leu88Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759561G= | CA1947834687 | CTSD | c.307C= (p.Leu103=) c.202C= (p.Leu68=) c.286C= (p.Leu96=) c.301C= (p.Leu101=) n.2735C= n.702C= c.*168C= (n.*168C=) c.262C= (p.Leu88=) | |
| 11 | g.1759561G>T | CA379098286 | CTSD | c.307C>A (p.Leu103Met) c.202C>A (p.Leu68Met) c.286C>A (p.Leu96Met) c.301C>A (p.Leu101Met) n.2735C>A n.702C>A c.*168C>A (n.*168C>A) c.262C>A (p.Leu88Met) | |
| 11 | g.1759562G>A | CA471988405 | CTSD | c.306C>T (p.Asn102=) c.201C>T (p.Asn67=) c.285C>T (p.Asn95=) c.300C>T (p.Asn100=) n.2734C>T n.701C>T c.*167C>T (n.*167C>T) c.261C>T (p.Asn87=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759562G>C | CA379098288 | CTSD | c.306C>G (p.Asn102Lys) c.201C>G (p.Asn67Lys) c.285C>G (p.Asn95Lys) c.300C>G (p.Asn100Lys) n.2734C>G n.701C>G c.*167C>G (n.*167C>G) c.261C>G (p.Asn87Lys) | |
| 11 | g.1759562G= | CA1947834694 | CTSD | c.306C= (p.Asn102=) c.201C= (p.Asn67=) c.285C= (p.Asn95=) c.300C= (p.Asn100=) n.2734C= n.701C= c.*167C= (n.*167C=) c.261C= (p.Asn87=) | |
| 11 | g.1759562G>T | CA379098290 | CTSD | c.306C>A (p.Asn102Lys) c.201C>A (p.Asn67Lys) c.285C>A (p.Asn95Lys) c.300C>A (p.Asn100Lys) n.2734C>A n.701C>A c.*167C>A (n.*167C>A) c.261C>A (p.Asn87Lys) | gnomAD v4 COSMIC |
| 11 | g.1759563T>A | CA379098293 | CTSD | c.305A>T (p.Asn102Ile) c.200A>T (p.Asn67Ile) c.284A>T (p.Asn95Ile) c.299A>T (p.Asn100Ile) n.2733A>T n.700A>T c.*166A>T (n.*166A>T) c.260A>T (p.Asn87Ile) | |
| 11 | g.1759563T>C | CA216175581 | CTSD | c.305A>G (p.Asn102Ser) c.200A>G (p.Asn67Ser) c.284A>G (p.Asn95Ser) c.299A>G (p.Asn100Ser) n.2733A>G n.700A>G c.*166A>G (n.*166A>G) c.260A>G (p.Asn87Ser) | dbSNP gnomAD v4 |
| 11 | g.1759563T>G | CA379098291 | CTSD | c.305A>C (p.Asn102Thr) c.200A>C (p.Asn67Thr) c.284A>C (p.Asn95Thr) c.299A>C (p.Asn100Thr) n.2733A>C n.700A>C c.*166A>C (n.*166A>C) c.260A>C (p.Asn87Thr) | dbSNP |
| 11 | g.1759563T= | CA1947834702 | CTSD | c.305A= (p.Asn102=) c.200A= (p.Asn67=) c.284A= (p.Asn95=) c.299A= (p.Asn100=) n.2733A= n.700A= c.*166A= (n.*166A=) c.260A= (p.Asn87=) | |
| 11 | g.1759564T>A | CA379098296 | CTSD | c.304A>T (p.Asn102Tyr) c.199A>T (p.Asn67Tyr) c.283A>T (p.Asn95Tyr) c.298A>T (p.Asn100Tyr) n.2732A>T n.699A>T c.*165A>T (n.*165A>T) c.259A>T (p.Asn87Tyr) | |
| 11 | g.1759564T>C | CA379098301 | CTSD | c.304A>G (p.Asn102Asp) c.199A>G (p.Asn67Asp) c.283A>G (p.Asn95Asp) c.298A>G (p.Asn100Asp) n.2732A>G n.699A>G c.*165A>G (n.*165A>G) c.259A>G (p.Asn87Asp) | |
| 11 | g.1759564T>G | CA379098309 | CTSD | c.304A>C (p.Asn102His) c.199A>C (p.Asn67His) c.283A>C (p.Asn95His) c.298A>C (p.Asn100His) n.2732A>C n.699A>C c.*165A>C (n.*165A>C) c.259A>C (p.Asn87His) | ClinVar dbSNP |
| 11 | g.1759565G>A | CA471988414 | CTSD | c.303C>T (p.Ser101=) c.198C>T (p.Ser66=) c.282C>T (p.Ser94=) c.297C>T (p.Ser99=) n.2731C>T n.698C>T c.*164C>T (n.*164C>T) c.258C>T (p.Ser86=) | |
| 11 | g.1759565G>C | CA471988416 | CTSD | c.303C>G (p.Ser101=) c.198C>G (p.Ser66=) c.282C>G (p.Ser94=) c.297C>G (p.Ser99=) n.2731C>G n.698C>G c.*164C>G (n.*164C>G) c.258C>G (p.Ser86=) | |
| 11 | g.1759565G>T | CA471988417 | CTSD | c.303C>A (p.Ser101=) c.198C>A (p.Ser66=) c.282C>A (p.Ser94=) c.297C>A (p.Ser99=) n.2731C>A n.698C>A c.*164C>A (n.*164C>A) c.258C>A (p.Ser86=) | |
| 11 | g.1759566del | CA2611925606 | CTSD | c.303del (p.Asn102ThrfsTer?) c.198del (p.Asn67ThrfsTer?) c.282del (p.Asn95ThrfsTer?) c.297del (p.Asn100ThrfsTer?) n.2731del n.698del c.*164del (n.*164del) c.258del (p.Asn87ThrfsTer?) | gnomAD v4 |
| 11 | g.1759566G>A | CA379098311 | CTSD | c.302C>T (p.Ser101Phe) c.197C>T (p.Ser66Phe) c.281C>T (p.Ser94Phe) c.296C>T (p.Ser99Phe) n.2730C>T n.697C>T c.*163C>T (n.*163C>T) c.257C>T (p.Ser86Phe) | |
| 11 | g.1759566G>C | CA379098312 | CTSD | c.302C>G (p.Ser101Cys) c.197C>G (p.Ser66Cys) c.281C>G (p.Ser94Cys) c.296C>G (p.Ser99Cys) n.2730C>G n.697C>G c.*163C>G (n.*163C>G) c.257C>G (p.Ser86Cys) | |
| 11 | g.1759566G>T | CA379098313 | CTSD | c.302C>A (p.Ser101Tyr) c.197C>A (p.Ser66Tyr) c.281C>A (p.Ser94Tyr) c.296C>A (p.Ser99Tyr) n.2730C>A n.697C>A c.*163C>A (n.*163C>A) c.257C>A (p.Ser86Tyr) | |
| 11 | g.1759567A= | CA1947834706 | CTSD | c.301T= (p.Ser101=) c.196T= (p.Ser66=) c.280T= (p.Ser94=) c.295T= (p.Ser99=) n.2729T= n.696T= c.*162T= (n.*162T=) c.256T= (p.Ser86=) | |
| 11 | g.1759567A>C | CA379098315 | CTSD | c.301T>G (p.Ser101Ala) c.196T>G (p.Ser66Ala) c.280T>G (p.Ser94Ala) c.295T>G (p.Ser99Ala) n.2729T>G n.696T>G c.*162T>G (n.*162T>G) c.256T>G (p.Ser86Ala) | |
| 11 | g.1759567A>G | CA216175589 | CTSD | c.301T>C (p.Ser101Pro) c.196T>C (p.Ser66Pro) c.280T>C (p.Ser94Pro) c.295T>C (p.Ser99Pro) n.2729T>C n.696T>C c.*162T>C (n.*162T>C) c.256T>C (p.Ser86Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759567A>T | CA379098317 | CTSD | c.301T>A (p.Ser101Thr) c.196T>A (p.Ser66Thr) c.280T>A (p.Ser94Thr) c.295T>A (p.Ser99Thr) n.2729T>A n.696T>A c.*162T>A (n.*162T>A) c.256T>A (p.Ser86Thr) | |
| 11 | g.1759568G>A | CA471988426 | CTSD | c.300C>T (p.Ser100=) c.195C>T (p.Ser65=) c.279C>T (p.Ser93=) c.294C>T (p.Ser98=) n.2728C>T n.695C>T c.*161C>T (n.*161C>T) c.255C>T (p.Ser85=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.1759568G>C | CA471988429 | CTSD | c.300C>G (p.Ser100=) c.195C>G (p.Ser65=) c.279C>G (p.Ser93=) c.294C>G (p.Ser98=) n.2728C>G n.695C>G c.*161C>G (n.*161C>G) c.255C>G (p.Ser85=) | |
| 11 | g.1759568G= | CA1947834711 | CTSD | c.300C= (p.Ser100=) c.195C= (p.Ser65=) c.279C= (p.Ser93=) c.294C= (p.Ser98=) n.2728C= n.695C= c.*161C= (n.*161C=) c.255C= (p.Ser85=) | |
| 11 | g.1759568G>T | CA471988428 | CTSD | c.300C>A (p.Ser100=) c.195C>A (p.Ser65=) c.279C>A (p.Ser93=) c.294C>A (p.Ser98=) n.2728C>A n.695C>A c.*161C>A (n.*161C>A) c.255C>A (p.Ser85=) | |
| 11 | g.1759569G>A | CA314368 | CTSD | c.299C>T (p.Ser100Phe) c.194C>T (p.Ser65Phe) c.278C>T (p.Ser93Phe) c.293C>T (p.Ser98Phe) n.2727C>T n.694C>T c.*160C>T (n.*160C>T) c.254C>T (p.Ser85Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759569G>C | CA379098318 | CTSD | c.299C>G (p.Ser100Cys) c.194C>G (p.Ser65Cys) c.278C>G (p.Ser93Cys) c.293C>G (p.Ser98Cys) n.2727C>G n.694C>G c.*160C>G (n.*160C>G) c.254C>G (p.Ser85Cys) | |
| 11 | g.1759569G= | CA1947834716 | CTSD | c.299C= (p.Ser100=) c.194C= (p.Ser65=) c.278C= (p.Ser93=) c.293C= (p.Ser98=) n.2727C= n.694C= c.*160C= (n.*160C=) c.254C= (p.Ser85=) | |
| 11 | g.1759569G>T | CA379098319 | CTSD | c.299C>A (p.Ser100Tyr) c.194C>A (p.Ser65Tyr) c.278C>A (p.Ser93Tyr) c.293C>A (p.Ser98Tyr) n.2727C>A n.694C>A c.*160C>A (n.*160C>A) c.254C>A (p.Ser85Tyr) | |
| 11 | g.1759570A>C | CA379098324 | CTSD | c.298T>G (p.Ser100Ala) c.193T>G (p.Ser65Ala) c.277T>G (p.Ser93Ala) c.292T>G (p.Ser98Ala) n.2726T>G n.693T>G c.*159T>G (n.*159T>G) c.253T>G (p.Ser85Ala) | |
| 11 | g.1759570A>G | CA379098323 | CTSD | c.298T>C (p.Ser100Pro) c.193T>C (p.Ser65Pro) c.277T>C (p.Ser93Pro) c.292T>C (p.Ser98Pro) n.2726T>C n.693T>C c.*159T>C (n.*159T>C) c.253T>C (p.Ser85Pro) | |
| 11 | g.1759570A>T | CA379098321 | CTSD | c.298T>A (p.Ser100Thr) c.193T>A (p.Ser65Thr) c.277T>A (p.Ser93Thr) c.292T>A (p.Ser98Thr) n.2726T>A n.693T>A c.*159T>A (n.*159T>A) c.253T>A (p.Ser85Thr) | |
| 11 | g.1759571G>A | CA471988439 | CTSD | c.297C>T (p.Gly99=) c.192C>T (p.Gly64=) c.276C>T (p.Gly92=) c.291C>T (p.Gly97=) n.2725C>T n.692C>T c.*158C>T (n.*158C>T) c.252C>T (p.Gly84=) | |
| 11 | g.1759571G>C | CA471988440 | CTSD | c.297C>G (p.Gly99=) c.192C>G (p.Gly64=) c.276C>G (p.Gly92=) c.291C>G (p.Gly97=) n.2725C>G n.692C>G c.*158C>G (n.*158C>G) c.252C>G (p.Gly84=) | |
| 11 | g.1759571G>T | CA471988442 | CTSD | c.297C>A (p.Gly99=) c.192C>A (p.Gly64=) c.276C>A (p.Gly92=) c.291C>A (p.Gly97=) n.2725C>A n.692C>A c.*158C>A (n.*158C>A) c.252C>A (p.Gly84=) | |
| 11 | g.1759572C>A | CA379098327 | CTSD | c.296G>T (p.Gly99Val) c.191G>T (p.Gly64Val) c.275G>T (p.Gly92Val) c.290G>T (p.Gly97Val) n.2724G>T n.691G>T c.*157G>T (n.*157G>T) c.251G>T (p.Gly84Val) | |
| 11 | g.1759572C= | CA1947834720 | CTSD | c.296G= (p.Gly99=) c.191G= (p.Gly64=) c.275G= (p.Gly92=) c.290G= (p.Gly97=) n.2724G= n.691G= c.*157G= (n.*157G=) c.251G= (p.Gly84=) | |
| 11 | g.1759572C>G | CA379098331 | CTSD | c.296G>C (p.Gly99Ala) c.191G>C (p.Gly64Ala) c.275G>C (p.Gly92Ala) c.290G>C (p.Gly97Ala) n.2724G>C n.691G>C c.*157G>C (n.*157G>C) c.251G>C (p.Gly84Ala) | dbSNP |
| 11 | g.1759572C>T | CA379098332 | CTSD | c.296G>A (p.Gly99Asp) c.191G>A (p.Gly64Asp) c.275G>A (p.Gly92Asp) c.290G>A (p.Gly97Asp) n.2724G>A n.691G>A c.*157G>A (n.*157G>A) c.251G>A (p.Gly84Asp) | |
| 11 | g.1759573C>A | CA379098335 | CTSD | c.295G>T (p.Gly99Cys) c.190G>T (p.Gly64Cys) c.274G>T (p.Gly92Cys) c.289G>T (p.Gly97Cys) n.2723G>T n.690G>T c.*156G>T (n.*156G>T) c.250G>T (p.Gly84Cys) | |
| 11 | g.1759573C>G | CA379098337 | CTSD | c.295G>C (p.Gly99Arg) c.190G>C (p.Gly64Arg) c.274G>C (p.Gly92Arg) c.289G>C (p.Gly97Arg) n.2723G>C n.690G>C c.*156G>C (n.*156G>C) c.250G>C (p.Gly84Arg) | |
| 11 | g.1759573C>T | CA379098339 | CTSD | c.295G>A (p.Gly99Ser) c.190G>A (p.Gly64Ser) c.274G>A (p.Gly92Ser) c.289G>A (p.Gly97Ser) n.2723G>A n.690G>A c.*156G>A (n.*156G>A) c.250G>A (p.Gly84Ser) | |
| 11 | g.1759574C>A | CA471988452 | CTSD | c.294G>T (p.Thr98=) c.189G>T (p.Thr63=) c.273G>T (p.Thr91=) c.288G>T (p.Thr96=) n.2722G>T n.689G>T c.*155G>T (n.*155G>T) c.249G>T (p.Thr83=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759574C= | CA1947834726 | CTSD | c.294G= (p.Thr98=) c.189G= (p.Thr63=) c.273G= (p.Thr91=) c.288G= (p.Thr96=) n.2722G= n.689G= c.*155G= (n.*155G=) c.249G= (p.Thr83=) | |
| 11 | g.1759574C>G | CA471988450 | CTSD | c.294G>C (p.Thr98=) c.189G>C (p.Thr63=) c.273G>C (p.Thr91=) c.288G>C (p.Thr96=) n.2722G>C n.689G>C c.*155G>C (n.*155G>C) c.249G>C (p.Thr83=) | |
| 11 | g.1759574C>T | CA290546 | CTSD | c.294G>A (p.Thr98=) c.189G>A (p.Thr63=) c.273G>A (p.Thr91=) c.288G>A (p.Thr96=) n.2722G>A n.689G>A c.*155G>A (n.*155G>A) c.249G>A (p.Thr83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759575G>A | CA5814238 | CTSD | c.293C>T (p.Thr98Met) c.188C>T (p.Thr63Met) c.272C>T (p.Thr91Met) c.287C>T (p.Thr96Met) n.2721C>T n.688C>T c.*154C>T (n.*154C>T) c.248C>T (p.Thr83Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759575G>C | CA379098344 | CTSD | c.293C>G (p.Thr98Arg) c.188C>G (p.Thr63Arg) c.272C>G (p.Thr91Arg) c.287C>G (p.Thr96Arg) n.2721C>G n.688C>G c.*154C>G (n.*154C>G) c.248C>G (p.Thr83Arg) | ClinVar dbSNP |
| 11 | g.1759575G= | CA1947834733 | CTSD | c.293C= (p.Thr98=) c.188C= (p.Thr63=) c.272C= (p.Thr91=) c.287C= (p.Thr96=) n.2721C= n.688C= c.*154C= (n.*154C=) c.248C= (p.Thr83=) | |
| 11 | g.1759575G>T | CA379098346 | CTSD | c.293C>A (p.Thr98Lys) c.188C>A (p.Thr63Lys) c.272C>A (p.Thr91Lys) c.287C>A (p.Thr96Lys) n.2721C>A n.688C>A c.*154C>A (n.*154C>A) c.248C>A (p.Thr83Lys) | |
| 11 | g.1759576T>A | CA216175611 | CTSD | c.292A>T (p.Thr98Ser) c.187A>T (p.Thr63Ser) c.271A>T (p.Thr91Ser) c.286A>T (p.Thr96Ser) n.2720A>T n.687A>T c.*153A>T (n.*153A>T) c.247A>T (p.Thr83Ser) | dbSNP |
| 11 | g.1759576T>C | CA379098350 | CTSD | c.292A>G (p.Thr98Ala) c.187A>G (p.Thr63Ala) c.271A>G (p.Thr91Ala) c.286A>G (p.Thr96Ala) n.2720A>G n.687A>G c.*153A>G (n.*153A>G) c.247A>G (p.Thr83Ala) | |
| 11 | g.1759576T>G | CA379098353 | CTSD | c.292A>C (p.Thr98Pro) c.187A>C (p.Thr63Pro) c.271A>C (p.Thr91Pro) c.286A>C (p.Thr96Pro) n.2720A>C n.687A>C c.*153A>C (n.*153A>C) c.247A>C (p.Thr83Pro) | dbSNP |
| 11 | g.1759576T= | CA1947834738 | CTSD | c.292A= (p.Thr98=) c.187A= (p.Thr63=) c.271A= (p.Thr91=) c.286A= (p.Thr96=) n.2720A= n.687A= c.*153A= (n.*153A=) c.247A= (p.Thr83=) | |
| 11 | g.1759577G>A | CA471988462 | CTSD | c.291C>T (p.Asp97=) c.186C>T (p.Asp62=) c.270C>T (p.Asp90=) c.285C>T (p.Asp95=) n.2719C>T n.686C>T c.*152C>T (n.*152C>T) c.246C>T (p.Asp82=) | dbSNP |
| 11 | g.1759577G>C | CA379098356 | CTSD | c.291C>G (p.Asp97Glu) c.186C>G (p.Asp62Glu) c.270C>G (p.Asp90Glu) c.285C>G (p.Asp95Glu) n.2719C>G n.686C>G c.*152C>G (n.*152C>G) c.246C>G (p.Asp82Glu) | |
| 11 | g.1759577G= | CA1947834743 | CTSD | c.291C= (p.Asp97=) c.186C= (p.Asp62=) c.270C= (p.Asp90=) c.285C= (p.Asp95=) n.2719C= n.686C= c.*152C= (n.*152C=) c.246C= (p.Asp82=) | |
| 11 | g.1759577G>T | CA379098355 | CTSD | c.291C>A (p.Asp97Glu) c.186C>A (p.Asp62Glu) c.270C>A (p.Asp90Glu) c.285C>A (p.Asp95Glu) n.2719C>A n.686C>A c.*152C>A (n.*152C>A) c.246C>A (p.Asp82Glu) | |
| 11 | g.1759578T>A | CA379098359 | CTSD | c.290A>T (p.Asp97Val) c.185A>T (p.Asp62Val) c.269A>T (p.Asp90Val) c.284A>T (p.Asp95Val) n.2718A>T n.685A>T c.*151A>T (n.*151A>T) c.245A>T (p.Asp82Val) | |
| 11 | g.1759578T>C | CA379098362 | CTSD | c.290A>G (p.Asp97Gly) c.185A>G (p.Asp62Gly) c.269A>G (p.Asp90Gly) c.284A>G (p.Asp95Gly) n.2718A>G n.685A>G c.*151A>G (n.*151A>G) c.245A>G (p.Asp82Gly) | |
| 11 | g.1759578T>G | CA379098361 | CTSD | c.290A>C (p.Asp97Ala) c.185A>C (p.Asp62Ala) c.269A>C (p.Asp90Ala) c.284A>C (p.Asp95Ala) n.2718A>C n.685A>C c.*151A>C (n.*151A>C) c.245A>C (p.Asp82Ala) | |
| 11 | g.1759579C>A | CA379098363 | CTSD | c.289G>T (p.Asp97Tyr) c.184G>T (p.Asp62Tyr) c.268G>T (p.Asp90Tyr) c.283G>T (p.Asp95Tyr) n.2717G>T n.684G>T c.*150G>T (n.*150G>T) c.244G>T (p.Asp82Tyr) | |
| 11 | g.1759579C= | CA1947834748 | CTSD | c.289G= (p.Asp97=) c.184G= (p.Asp62=) c.268G= (p.Asp90=) c.283G= (p.Asp95=) n.2717G= n.684G= c.*150G= (n.*150G=) c.244G= (p.Asp82=) | |
| 11 | g.1759579C>G | CA379098370 | CTSD | c.289G>C (p.Asp97His) c.184G>C (p.Asp62His) c.268G>C (p.Asp90His) c.283G>C (p.Asp95His) n.2717G>C n.684G>C c.*150G>C (n.*150G>C) c.244G>C (p.Asp82His) | |
| 11 | g.1759579C>T | CA5814239 | CTSD | c.289G>A (p.Asp97Asn) c.184G>A (p.Asp62Asn) c.268G>A (p.Asp90Asn) c.283G>A (p.Asp95Asn) n.2717G>A n.684G>A c.*150G>A (n.*150G>A) c.244G>A (p.Asp82Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759580G>A | CA5814240 | CTSD | c.288C>T (p.Phe96=) c.183C>T (p.Phe61=) c.267C>T (p.Phe89=) c.282C>T (p.Phe94=) n.2716C>T n.683C>T c.*149C>T (n.*149C>T) c.243C>T (p.Phe81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759580G>C | CA379098372 | CTSD | c.288C>G (p.Phe96Leu) c.183C>G (p.Phe61Leu) c.267C>G (p.Phe89Leu) c.282C>G (p.Phe94Leu) n.2716C>G n.683C>G c.*149C>G (n.*149C>G) c.243C>G (p.Phe81Leu) | |
| 11 | g.1759580G= | CA1947834754 | CTSD | c.288C= (p.Phe96=) c.183C= (p.Phe61=) c.267C= (p.Phe89=) c.282C= (p.Phe94=) n.2716C= n.683C= c.*149C= (n.*149C=) c.243C= (p.Phe81=) | |
| 11 | g.1759580G>T | CA379098374 | CTSD | c.288C>A (p.Phe96Leu) c.183C>A (p.Phe61Leu) c.267C>A (p.Phe89Leu) c.282C>A (p.Phe94Leu) n.2716C>A n.683C>A c.*149C>A (n.*149C>A) c.243C>A (p.Phe81Leu) | |
| 11 | g.1759581A>C | CA379098376 | CTSD | c.287T>G (p.Phe96Cys) c.182T>G (p.Phe61Cys) c.266T>G (p.Phe89Cys) c.281T>G (p.Phe94Cys) n.2715T>G n.682T>G c.*148T>G (n.*148T>G) c.242T>G (p.Phe81Cys) | |
| 11 | g.1759581A>G | CA379098378 | CTSD | c.287T>C (p.Phe96Ser) c.182T>C (p.Phe61Ser) c.266T>C (p.Phe89Ser) c.281T>C (p.Phe94Ser) n.2715T>C n.682T>C c.*148T>C (n.*148T>C) c.242T>C (p.Phe81Ser) | gnomAD v4 |
| 11 | g.1759581A>T | CA379098380 | CTSD | c.287T>A (p.Phe96Tyr) c.182T>A (p.Phe61Tyr) c.266T>A (p.Phe89Tyr) c.281T>A (p.Phe94Tyr) n.2715T>A n.682T>A c.*148T>A (n.*148T>A) c.242T>A (p.Phe81Tyr) | |
| 11 | g.1759582A= | CA1947834760 | CTSD | c.286T= (p.Phe96=) c.181T= (p.Phe61=) c.265T= (p.Phe89=) c.280T= (p.Phe94=) n.2714T= n.681T= c.*147T= (n.*147T=) c.241T= (p.Phe81=) | |
| 11 | g.1759582A>C | CA379098383 | CTSD | c.286T>G (p.Phe96Val) c.181T>G (p.Phe61Val) c.265T>G (p.Phe89Val) c.280T>G (p.Phe94Val) n.2714T>G n.681T>G c.*147T>G (n.*147T>G) c.241T>G (p.Phe81Val) | |
| 11 | g.1759582A>G | CA379098384 | CTSD | c.286T>C (p.Phe96Leu) c.181T>C (p.Phe61Leu) c.265T>C (p.Phe89Leu) c.280T>C (p.Phe94Leu) n.2714T>C n.681T>C c.*147T>C (n.*147T>C) c.241T>C (p.Phe81Leu) | dbSNP |
| 11 | g.1759582A>T | CA379098385 | CTSD | c.286T>A (p.Phe96Ile) c.181T>A (p.Phe61Ile) c.265T>A (p.Phe89Ile) c.280T>A (p.Phe94Ile) n.2714T>A n.681T>A c.*147T>A (n.*147T>A) c.241T>A (p.Phe81Ile) | |
| 11 | g.1759583G>A | CA471988489 | CTSD | c.285C>T (p.Val95=) c.180C>T (p.Val60=) c.264C>T (p.Val88=) c.279C>T (p.Val93=) n.2713C>T n.680C>T c.*146C>T (n.*146C>T) c.240C>T (p.Val80=) | ClinVar dbSNP |
| 11 | g.1759583G>C | CA471988491 | CTSD | c.285C>G (p.Val95=) c.180C>G (p.Val60=) c.264C>G (p.Val88=) c.279C>G (p.Val93=) n.2713C>G n.680C>G c.*146C>G (n.*146C>G) c.240C>G (p.Val80=) | |
| 11 | g.1759583G= | CA1947834764 | CTSD | c.285C= (p.Val95=) c.180C= (p.Val60=) c.264C= (p.Val88=) c.279C= (p.Val93=) n.2713C= n.680C= c.*146C= (n.*146C=) c.240C= (p.Val80=) | |
| 11 | g.1759583G>T | CA471988482 | CTSD | c.285C>A (p.Val95=) c.180C>A (p.Val60=) c.264C>A (p.Val88=) c.279C>A (p.Val93=) n.2713C>A n.680C>A c.*146C>A (n.*146C>A) c.240C>A (p.Val80=) | |
| 11 | g.1759584A>C | CA379098387 | CTSD | c.284T>G (p.Val95Gly) c.179T>G (p.Val60Gly) c.263T>G (p.Val88Gly) c.278T>G (p.Val93Gly) n.2712T>G n.679T>G c.*145T>G (n.*145T>G) c.239T>G (p.Val80Gly) | |
| 11 | g.1759584A>G | CA379098389 | CTSD | c.284T>C (p.Val95Ala) c.179T>C (p.Val60Ala) c.263T>C (p.Val88Ala) c.278T>C (p.Val93Ala) n.2712T>C n.679T>C c.*145T>C (n.*145T>C) c.239T>C (p.Val80Ala) | gnomAD v4 |
| 11 | g.1759584A>T | CA379098391 | CTSD | c.284T>A (p.Val95Asp) c.179T>A (p.Val60Asp) c.263T>A (p.Val88Asp) c.278T>A (p.Val93Asp) n.2712T>A n.679T>A c.*145T>A (n.*145T>A) c.239T>A (p.Val80Asp) | |
| 11 | g.1759585C>A | CA379098393 | CTSD | c.283G>T (p.Val95Phe) c.178G>T (p.Val60Phe) c.262G>T (p.Val88Phe) c.277G>T (p.Val93Phe) n.2711G>T n.678G>T c.*144G>T (n.*144G>T) c.238G>T (p.Val80Phe) | |
| 11 | g.1759585C= | CA1947834771 | CTSD | c.283G= (p.Val95=) c.178G= (p.Val60=) c.262G= (p.Val88=) c.277G= (p.Val93=) n.2711G= n.678G= c.*144G= (n.*144G=) c.238G= (p.Val80=) | |
| 11 | g.1759585C>G | CA379098397 | CTSD | c.283G>C (p.Val95Leu) c.178G>C (p.Val60Leu) c.262G>C (p.Val88Leu) c.277G>C (p.Val93Leu) n.2711G>C n.678G>C c.*144G>C (n.*144G>C) c.238G>C (p.Val80Leu) | |
| 11 | g.1759585C>T | CA5814241 | CTSD | c.283G>A (p.Val95Ile) c.178G>A (p.Val60Ile) c.262G>A (p.Val88Ile) c.277G>A (p.Val93Ile) n.2711G>A n.678G>A c.*144G>A (n.*144G>A) c.238G>A (p.Val80Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759586G>A | CA216175639 | CTSD | c.282C>T (p.Val94=) c.177C>T (p.Val59=) c.261C>T (p.Val87=) c.276C>T (p.Val92=) n.2710C>T n.677C>T c.*143C>T (n.*143C>T) c.237C>T (p.Val79=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.1759586G>C | CA471988500 | CTSD | c.282C>G (p.Val94=) c.177C>G (p.Val59=) c.261C>G (p.Val87=) c.276C>G (p.Val92=) n.2710C>G n.677C>G c.*143C>G (n.*143C>G) c.237C>G (p.Val79=) | gnomAD v4 |
| 11 | g.1759586G= | CA1947834775 | CTSD | c.282C= (p.Val94=) c.177C= (p.Val59=) c.261C= (p.Val87=) c.276C= (p.Val92=) n.2710C= n.677C= c.*143C= (n.*143C=) c.237C= (p.Val79=) | |
| 11 | g.1759586G>T | CA471988503 | CTSD | c.282C>A (p.Val94=) c.177C>A (p.Val59=) c.261C>A (p.Val87=) c.276C>A (p.Val92=) n.2710C>A n.677C>A c.*143C>A (n.*143C>A) c.237C>A (p.Val79=) | |
| 11 | g.1759587A>C | CA379098400 | CTSD | c.281T>G (p.Val94Gly) c.176T>G (p.Val59Gly) c.260T>G (p.Val87Gly) c.275T>G (p.Val92Gly) n.2709T>G n.676T>G c.*142T>G (n.*142T>G) c.236T>G (p.Val79Gly) | |
| 11 | g.1759587A>G | CA379098402 | CTSD | c.281T>C (p.Val94Ala) c.176T>C (p.Val59Ala) c.260T>C (p.Val87Ala) c.275T>C (p.Val92Ala) n.2709T>C n.676T>C c.*142T>C (n.*142T>C) c.236T>C (p.Val79Ala) | |
| 11 | g.1759587A>T | CA379098407 | CTSD | c.281T>A (p.Val94Asp) c.176T>A (p.Val59Asp) c.260T>A (p.Val87Asp) c.275T>A (p.Val92Asp) n.2709T>A n.676T>A c.*142T>A (n.*142T>A) c.236T>A (p.Val79Asp) | |
| 11 | g.1759588C>A | CA379098409 | CTSD | c.280G>T (p.Val94Phe) c.175G>T (p.Val59Phe) c.259G>T (p.Val87Phe) c.274G>T (p.Val92Phe) n.2708G>T n.675G>T c.*141G>T (n.*141G>T) c.235G>T (p.Val79Phe) | gnomAD v4 |
| 11 | g.1759588C= | CA1947834778 | CTSD | c.280G= (p.Val94=) c.175G= (p.Val59=) c.259G= (p.Val87=) c.274G= (p.Val92=) n.2708G= n.675G= c.*141G= (n.*141G=) c.235G= (p.Val79=) | |
| 11 | g.1759588C>G | CA379098410 | CTSD | c.280G>C (p.Val94Leu) c.175G>C (p.Val59Leu) c.259G>C (p.Val87Leu) c.274G>C (p.Val92Leu) n.2708G>C n.675G>C c.*141G>C (n.*141G>C) c.235G>C (p.Val79Leu) | |
| 11 | g.1759588C>T | CA5814242 | CTSD | c.280G>A (p.Val94Ile) c.175G>A (p.Val59Ile) c.259G>A (p.Val87Ile) c.274G>A (p.Val92Ile) n.2708G>A n.675G>A c.*141G>A (n.*141G>A) c.235G>A (p.Val79Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759589T>A | CA471988516 | CTSD | c.279A>T (p.Thr93=) c.174A>T (p.Thr58=) c.258A>T (p.Thr86=) c.273A>T (p.Thr91=) n.2707A>T n.674A>T c.*140A>T (n.*140A>T) c.234A>T (p.Thr78=) | dbSNP gnomAD v4 |
| 11 | g.1759589T>C | CA471988517 | CTSD | c.279A>G (p.Thr93=) c.174A>G (p.Thr58=) c.258A>G (p.Thr86=) c.273A>G (p.Thr91=) n.2707A>G n.674A>G c.*140A>G (n.*140A>G) c.234A>G (p.Thr78=) | |
| 11 | g.1759589T>G | CA471988519 | CTSD | c.279A>C (p.Thr93=) c.174A>C (p.Thr58=) c.258A>C (p.Thr86=) c.273A>C (p.Thr91=) n.2707A>C n.674A>C c.*140A>C (n.*140A>C) c.234A>C (p.Thr78=) | |
| 11 | g.1759589T= | CA1947834782 | CTSD | c.279A= (p.Thr93=) c.174A= (p.Thr58=) c.258A= (p.Thr86=) c.273A= (p.Thr91=) n.2707A= n.674A= c.*140A= (n.*140A=) c.234A= (p.Thr78=) | |
| 11 | g.1759590G>A | CA379098414 | CTSD | c.278C>T (p.Thr93Ile) c.173C>T (p.Thr58Ile) c.257C>T (p.Thr86Ile) c.272C>T (p.Thr91Ile) n.2706C>T n.673C>T c.*139C>T (n.*139C>T) c.233C>T (p.Thr78Ile) | gnomAD v4 |
| 11 | g.1759590G>C | CA379098417 | CTSD | c.278C>G (p.Thr93Arg) c.173C>G (p.Thr58Arg) c.257C>G (p.Thr86Arg) c.272C>G (p.Thr91Arg) n.2706C>G n.673C>G c.*139C>G (n.*139C>G) c.233C>G (p.Thr78Arg) | |
| 11 | g.1759590G>T | CA379098419 | CTSD | c.278C>A (p.Thr93Lys) c.173C>A (p.Thr58Lys) c.257C>A (p.Thr86Lys) c.272C>A (p.Thr91Lys) n.2706C>A n.673C>A c.*139C>A (n.*139C>A) c.233C>A (p.Thr78Lys) | |
| 11 | g.1759591T>A | CA379098429 | CTSD | c.277A>T (p.Thr93Ser) c.172A>T (p.Thr58Ser) c.256A>T (p.Thr86Ser) c.271A>T (p.Thr91Ser) n.2705A>T n.672A>T c.*138A>T (n.*138A>T) c.232A>T (p.Thr78Ser) | |
| 11 | g.1759591T>C | CA379098427 | CTSD | c.277A>G (p.Thr93Ala) c.172A>G (p.Thr58Ala) c.256A>G (p.Thr86Ala) c.271A>G (p.Thr91Ala) n.2705A>G n.672A>G c.*138A>G (n.*138A>G) c.232A>G (p.Thr78Ala) | |
| 11 | g.1759591T>G | CA379098422 | CTSD | c.277A>C (p.Thr93Pro) c.172A>C (p.Thr58Pro) c.256A>C (p.Thr86Pro) c.271A>C (p.Thr91Pro) n.2705A>C n.672A>C c.*138A>C (n.*138A>C) c.232A>C (p.Thr78Pro) | |
| 11 | g.1759592G>A | CA471988532 | CTSD | c.276C>T (p.Phe92=) c.171C>T (p.Phe57=) c.255C>T (p.Phe85=) c.270C>T (p.Phe90=) n.2704C>T n.671C>T c.*137C>T (n.*137C>T) c.231C>T (p.Phe77=) | ClinVar |
| 11 | g.1759592G>C | CA379098430 | CTSD | c.276C>G (p.Phe92Leu) c.171C>G (p.Phe57Leu) c.255C>G (p.Phe85Leu) c.270C>G (p.Phe90Leu) n.2704C>G n.671C>G c.*137C>G (n.*137C>G) c.231C>G (p.Phe77Leu) | |
| 11 | g.1759592G>T | CA379098431 | CTSD | c.276C>A (p.Phe92Leu) c.171C>A (p.Phe57Leu) c.255C>A (p.Phe85Leu) c.270C>A (p.Phe90Leu) n.2704C>A n.671C>A c.*137C>A (n.*137C>A) c.231C>A (p.Phe77Leu) | |
| 11 | g.1759593A>C | CA379098432 | CTSD | c.275T>G (p.Phe92Cys) c.170T>G (p.Phe57Cys) c.254T>G (p.Phe85Cys) c.269T>G (p.Phe90Cys) n.2703T>G n.670T>G c.*136T>G (n.*136T>G) c.230T>G (p.Phe77Cys) | |
| 11 | g.1759593A>G | CA379098433 | CTSD | c.275T>C (p.Phe92Ser) c.170T>C (p.Phe57Ser) c.254T>C (p.Phe85Ser) c.269T>C (p.Phe90Ser) n.2703T>C n.670T>C c.*136T>C (n.*136T>C) c.230T>C (p.Phe77Ser) | |
| 11 | g.1759593A>T | CA379098434 | CTSD | c.275T>A (p.Phe92Tyr) c.170T>A (p.Phe57Tyr) c.254T>A (p.Phe85Tyr) c.269T>A (p.Phe90Tyr) n.2703T>A n.670T>A c.*136T>A (n.*136T>A) c.230T>A (p.Phe77Tyr) | |
| 11 | g.1759594A= | CA1947834784 | CTSD | c.274T= (p.Phe92=) c.169T= (p.Phe57=) c.253T= (p.Phe85=) c.268T= (p.Phe90=) n.2702T= n.669T= c.*135T= (n.*135T=) c.229T= (p.Phe77=) | |
| 11 | g.1759594A>C | CA379098435 | CTSD | c.274T>G (p.Phe92Val) c.169T>G (p.Phe57Val) c.253T>G (p.Phe85Val) c.268T>G (p.Phe90Val) n.2702T>G n.669T>G c.*135T>G (n.*135T>G) c.229T>G (p.Phe77Val) | |
| 11 | g.1759594A>G | CA379098436 | CTSD | c.274T>C (p.Phe92Leu) c.169T>C (p.Phe57Leu) c.253T>C (p.Phe85Leu) c.268T>C (p.Phe90Leu) n.2702T>C n.669T>C c.*135T>C (n.*135T>C) c.229T>C (p.Phe77Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759594A>T | CA379098437 | CTSD | c.274T>A (p.Phe92Ile) c.169T>A (p.Phe57Ile) c.253T>A (p.Phe85Ile) c.268T>A (p.Phe90Ile) n.2702T>A n.669T>A c.*135T>A (n.*135T>A) c.229T>A (p.Phe77Ile) | |
| 11 | g.1759595G>A | CA471988550 | CTSD | c.273C>T (p.Cys91=) c.168C>T (p.Cys56=) c.252C>T (p.Cys84=) c.267C>T (p.Cys89=) n.2701C>T n.668C>T c.*134C>T (n.*134C>T) c.228C>T (p.Cys76=) | |
| 11 | g.1759595G>C | CA379098438 | CTSD | c.273C>G (p.Cys91Trp) c.168C>G (p.Cys56Trp) c.252C>G (p.Cys84Trp) c.267C>G (p.Cys89Trp) n.2701C>G n.668C>G c.*134C>G (n.*134C>G) c.228C>G (p.Cys76Trp) | |
| 11 | g.1759595G>T | CA379098440 | CTSD | c.273C>A (p.Cys91Ter) c.168C>A (p.Cys56Ter) c.252C>A (p.Cys84Ter) c.267C>A (p.Cys89Ter) n.2701C>A n.668C>A c.*134C>A (n.*134C>A) c.228C>A (p.Cys76Ter) | |
| 11 | g.1759596C>A | CA379098441 | CTSD | c.272G>T (p.Cys91Phe) c.167G>T (p.Cys56Phe) c.251G>T (p.Cys84Phe) c.266G>T (p.Cys89Phe) n.2700G>T n.667G>T c.*133G>T (n.*133G>T) c.227G>T (p.Cys76Phe) | |
| 11 | g.1759596C>G | CA379098442 | CTSD | c.272G>C (p.Cys91Ser) c.167G>C (p.Cys56Ser) c.251G>C (p.Cys84Ser) c.266G>C (p.Cys89Ser) n.2700G>C n.667G>C c.*133G>C (n.*133G>C) c.227G>C (p.Cys76Ser) | |
| 11 | g.1759596C>T | CA379098443 | CTSD | c.272G>A (p.Cys91Tyr) c.167G>A (p.Cys56Tyr) c.251G>A (p.Cys84Tyr) c.266G>A (p.Cys89Tyr) n.2700G>A n.667G>A c.*133G>A (n.*133G>A) c.227G>A (p.Cys76Tyr) | gnomAD v4 COSMIC |
| 11 | g.1759597A= | CA1947834788 | CTSD | c.271T= (p.Cys91=) c.166T= (p.Cys56=) c.250T= (p.Cys84=) c.265T= (p.Cys89=) n.2699T= n.666T= c.*132T= (n.*132T=) c.226T= (p.Cys76=) | |
| 11 | g.1759597A>C | CA379098444 | CTSD | c.271T>G (p.Cys91Gly) c.166T>G (p.Cys56Gly) c.250T>G (p.Cys84Gly) c.265T>G (p.Cys89Gly) n.2699T>G n.666T>G c.*132T>G (n.*132T>G) c.226T>G (p.Cys76Gly) | |
| 11 | g.1759597A>G | CA216175674 | CTSD | c.271T>C (p.Cys91Arg) c.166T>C (p.Cys56Arg) c.250T>C (p.Cys84Arg) c.265T>C (p.Cys89Arg) n.2699T>C n.666T>C c.*132T>C (n.*132T>C) c.226T>C (p.Cys76Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759597A>T | CA379098445 | CTSD | c.271T>A (p.Cys91Ser) c.166T>A (p.Cys56Ser) c.250T>A (p.Cys84Ser) c.265T>A (p.Cys89Ser) n.2699T>A n.666T>A c.*132T>A (n.*132T>A) c.226T>A (p.Cys76Ser) | |
| 11 | g.1759598C>A | CA379098446 | CTSD | c.270G>T (p.Gln90His) c.165G>T (p.Gln55His) c.249G>T (p.Gln83His) c.264G>T (p.Gln88His) n.2698G>T n.665G>T c.*131G>T (n.*131G>T) c.225G>T (p.Gln75His) | gnomAD v4 |
| 11 | g.1759598C= | CA1947834792 | CTSD | c.270G= (p.Gln90=) c.165G= (p.Gln55=) c.249G= (p.Gln83=) c.264G= (p.Gln88=) n.2698G= n.665G= c.*131G= (n.*131G=) c.225G= (p.Gln75=) | |
| 11 | g.1759598C>G | CA379098447 | CTSD | c.270G>C (p.Gln90His) c.165G>C (p.Gln55His) c.249G>C (p.Gln83His) c.264G>C (p.Gln88His) n.2698G>C n.665G>C c.*131G>C (n.*131G>C) c.225G>C (p.Gln75His) | |
| 11 | g.1759598C>T | CA290544 | CTSD | c.270G>A (p.Gln90=) c.165G>A (p.Gln55=) c.249G>A (p.Gln83=) c.264G>A (p.Gln88=) n.2698G>A n.665G>A c.*131G>A (n.*131G>A) c.225G>A (p.Gln75=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759599T>A | CA379098448 | CTSD | c.269A>T (p.Gln90Leu) c.164A>T (p.Gln55Leu) c.248A>T (p.Gln83Leu) c.263A>T (p.Gln88Leu) n.2697A>T n.664A>T c.*130A>T (n.*130A>T) c.224A>T (p.Gln75Leu) | |
| 11 | g.1759599T>C | CA379098449 | CTSD | c.269A>G (p.Gln90Arg) c.164A>G (p.Gln55Arg) c.248A>G (p.Gln83Arg) c.263A>G (p.Gln88Arg) n.2697A>G n.664A>G c.*130A>G (n.*130A>G) c.224A>G (p.Gln75Arg) | ClinVar gnomAD v4 |
| 11 | g.1759599T>G | CA379098450 | CTSD | c.269A>C (p.Gln90Pro) c.164A>C (p.Gln55Pro) c.248A>C (p.Gln83Pro) c.263A>C (p.Gln88Pro) n.2697A>C n.664A>C c.*130A>C (n.*130A>C) c.224A>C (p.Gln75Pro) | |
| 11 | g.1759599_1759600delinsTG | CA1947834801 | CTSD | c.268_269delinsCA (p.Gln90=) c.163_164delinsCA (p.Gln55=) c.247_248delinsCA (p.Gln83=) c.262_263delinsCA (p.Gln88=) n.2696_2697delinsCA n.663_664delinsCA c.*129_*130delinsCA (n.*129_*130delinsCA) c.223_224delinsCA (p.Gln75=) | |
| 11 | g.1759600G>A | CA379098451 | CTSD | c.268C>T (p.Gln90Ter) c.163C>T (p.Gln55Ter) c.247C>T (p.Gln83Ter) c.262C>T (p.Gln88Ter) n.2696C>T n.663C>T c.*129C>T (n.*129C>T) c.223C>T (p.Gln75Ter) | dbSNP gnomAD v4 |
| 11 | g.1759600G>C | CA379098452 | CTSD | c.268C>G (p.Gln90Glu) c.163C>G (p.Gln55Glu) c.247C>G (p.Gln83Glu) c.262C>G (p.Gln88Glu) n.2696C>G n.663C>G c.*129C>G (n.*129C>G) c.223C>G (p.Gln75Glu) | |
| 11 | g.1759600G= | CA1947834811 | CTSD | c.268C= (p.Gln90=) c.163C= (p.Gln55=) c.247C= (p.Gln83=) c.262C= (p.Gln88=) n.2696C= n.663C= c.*129C= (n.*129C=) c.223C= (p.Gln75=) | |
| 11 | g.1759600G>T | CA379098453 | CTSD | c.268C>A (p.Gln90Lys) c.163C>A (p.Gln55Lys) c.247C>A (p.Gln83Lys) c.262C>A (p.Gln88Lys) n.2696C>A n.663C>A c.*129C>A (n.*129C>A) c.223C>A (p.Gln75Lys) | dbSNP |
| 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.1759605_1759606dup | CA2790175885 | CTSD | c.267_268dup (p.Gln90ProfsTer?) c.162_163dup (p.Gln55ProfsTer?) c.246_247dup (p.Gln83ProfsTer?) c.261_262dup (p.Gln88ProfsTer?) n.2695_2696dup n.662_663dup c.*128_*129dup (n.*128_*129dup) c.222_223dup (p.Gln75ProfsTer?) | |
| 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.1759600_1759601insC | CA471988568 | CTSD | c.267_268insG (p.Gln90AlafsTer?) c.162_163insG (p.Gln55AlafsTer?) c.246_247insG (p.Gln83AlafsTer?) c.261_262insG (p.Gln88AlafsTer?) n.2695_2696insG n.662_663insG c.*128_*129insG (n.*128_*129insG) c.222_223insG (p.Gln75AlafsTer?) | |
| 11 | g.1759601G>A | CA471988570 | CTSD | c.267C>T (p.Pro89=) c.162C>T (p.Pro54=) c.246C>T (p.Pro82=) c.261C>T (p.Pro87=) n.2695C>T n.662C>T c.*128C>T (n.*128C>T) c.222C>T (p.Pro74=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759601G>C | CA243244 | CTSD | c.267C>G (p.Pro89=) c.162C>G (p.Pro54=) c.246C>G (p.Pro82=) c.261C>G (p.Pro87=) n.2695C>G n.662C>G c.*128C>G (n.*128C>G) c.222C>G (p.Pro74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759601G= | CA1947834816 | CTSD | c.267C= (p.Pro89=) c.162C= (p.Pro54=) c.246C= (p.Pro82=) c.261C= (p.Pro87=) n.2695C= n.662C= c.*128C= (n.*128C=) c.222C= (p.Pro74=) | |
| 11 | g.1759601G>T | CA471988569 | CTSD | c.267C>A (p.Pro89=) c.162C>A (p.Pro54=) c.246C>A (p.Pro82=) c.261C>A (p.Pro87=) n.2695C>A n.662C>A c.*128C>A (n.*128C>A) c.222C>A (p.Pro74=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759602G>A | CA379098457 | CTSD | c.266C>T (p.Pro89Leu) c.161C>T (p.Pro54Leu) c.245C>T (p.Pro82Leu) c.260C>T (p.Pro87Leu) n.2694C>T n.661C>T c.*127C>T (n.*127C>T) c.221C>T (p.Pro74Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759602G>C | CA379098458 | CTSD | c.266C>G (p.Pro89Arg) c.161C>G (p.Pro54Arg) c.245C>G (p.Pro82Arg) c.260C>G (p.Pro87Arg) n.2694C>G n.661C>G c.*127C>G (n.*127C>G) c.221C>G (p.Pro74Arg) | |
| 11 | g.1759602G= | CA1947834821 | CTSD | c.266C= (p.Pro89=) c.161C= (p.Pro54=) c.245C= (p.Pro82=) c.260C= (p.Pro87=) n.2694C= n.661C= c.*127C= (n.*127C=) c.221C= (p.Pro74=) | |
| 11 | g.1759602G>T | CA379098455 | CTSD | c.266C>A (p.Pro89His) c.161C>A (p.Pro54His) c.245C>A (p.Pro82His) c.260C>A (p.Pro87His) n.2694C>A n.661C>A c.*127C>A (n.*127C>A) c.221C>A (p.Pro74His) | |
| 11 | g.1759603G>A | CA379098461 | CTSD | c.265C>T (p.Pro89Ser) c.160C>T (p.Pro54Ser) c.244C>T (p.Pro82Ser) c.259C>T (p.Pro87Ser) n.2693C>T n.660C>T c.*126C>T (n.*126C>T) c.220C>T (p.Pro74Ser) | gnomAD v4 |
| 11 | g.1759603G>C | CA379098462 | CTSD | c.265C>G (p.Pro89Ala) c.160C>G (p.Pro54Ala) c.244C>G (p.Pro82Ala) c.259C>G (p.Pro87Ala) n.2693C>G n.660C>G c.*126C>G (n.*126C>G) c.220C>G (p.Pro74Ala) | gnomAD v4 |
| 11 | g.1759603G>T | CA379098464 | CTSD | c.265C>A (p.Pro89Thr) c.160C>A (p.Pro54Thr) c.244C>A (p.Pro82Thr) c.259C>A (p.Pro87Thr) n.2693C>A n.660C>A c.*126C>A (n.*126C>A) c.220C>A (p.Pro74Thr) | |
| 11 | g.1759604G>A | CA471988585 | CTSD | c.264C>T (p.Pro88=) c.159C>T (p.Pro53=) c.243C>T (p.Pro81=) c.258C>T (p.Pro86=) n.2692C>T n.659C>T c.*125C>T (n.*125C>T) c.219C>T (p.Pro73=) | ClinVar |
| 11 | g.1759604G>C | CA471988587 | CTSD | c.264C>G (p.Pro88=) c.159C>G (p.Pro53=) c.243C>G (p.Pro81=) c.258C>G (p.Pro86=) n.2692C>G n.659C>G c.*125C>G (n.*125C>G) c.219C>G (p.Pro73=) | |
| 11 | g.1759604G>T | CA471988589 | CTSD | c.264C>A (p.Pro88=) c.159C>A (p.Pro53=) c.243C>A (p.Pro81=) c.258C>A (p.Pro86=) n.2692C>A n.659C>A c.*125C>A (n.*125C>A) c.219C>A (p.Pro73=) | |
| 11 | g.1759605G>A | CA379098467 | CTSD | c.263C>T (p.Pro88Leu) c.158C>T (p.Pro53Leu) c.242C>T (p.Pro81Leu) c.257C>T (p.Pro86Leu) n.2691C>T n.658C>T c.*124C>T (n.*124C>T) c.218C>T (p.Pro73Leu) | gnomAD v4 COSMIC |
| 11 | g.1759605G>C | CA379098469 | CTSD | c.263C>G (p.Pro88Arg) c.158C>G (p.Pro53Arg) c.242C>G (p.Pro81Arg) c.257C>G (p.Pro86Arg) n.2691C>G n.658C>G c.*124C>G (n.*124C>G) c.218C>G (p.Pro73Arg) | |
| 11 | g.1759605G>T | CA379098471 | CTSD | c.263C>A (p.Pro88His) c.158C>A (p.Pro53His) c.242C>A (p.Pro81His) c.257C>A (p.Pro86His) n.2691C>A n.658C>A c.*124C>A (n.*124C>A) c.218C>A (p.Pro73His) | |
| 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 |