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 |
|---|---|---|---|---|---|
| 10 | g.104037592C>A | CA2610800271 | COL17A1 | c.3073+44G>T (n.3073+44G>T) c.3208+44G>T (n.3208+44G>T) | gnomAD v4 |
| 10 | g.104037594C= | CA1933420729 | COL17A1 | c.3073+42G= (n.3073+42G=) c.3208+42G= (n.3208+42G=) | |
| 10 | g.104037594C>G | CA1933420730 | COL17A1 | c.3073+42G>C (n.3073+42G>C) c.3208+42G>C (n.3208+42G>C) | dbSNP |
| 10 | g.104037595A= | CA1933420731 | COL17A1 | c.3073+41T= (n.3073+41T=) c.3208+41T= (n.3208+41T=) | |
| 10 | g.104037595A>G | CA659182060 | COL17A1 | c.3073+41T>C (n.3073+41T>C) c.3208+41T>C (n.3208+41T>C) | dbSNP |
| 10 | g.104037595A>T | CA595673692 | COL17A1 | c.3073+41T>A (n.3073+41T>A) c.3208+41T>A (n.3208+41T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037597G>A | CA2574660925 | COL17A1 | c.3073+39C>T (n.3073+39C>T) c.3208+39C>T (n.3208+39C>T) | |
| 10 | g.104037599G>A | CA1933420733 | COL17A1 | c.3073+37C>T (n.3073+37C>T) c.3208+37C>T (n.3208+37C>T) | dbSNP gnomAD v4 |
| 10 | g.104037599G= | CA1933420732 | COL17A1 | c.3073+37C= (n.3073+37C=) c.3208+37C= (n.3208+37C=) | |
| 10 | g.104037599G>T | CA2610800277 | COL17A1 | c.3073+37C>A (n.3073+37C>A) c.3208+37C>A (n.3208+37C>A) | gnomAD v4 |
| 10 | g.104037600G>A | CA595673693 | COL17A1 | c.3073+36C>T (n.3073+36C>T) c.3208+36C>T (n.3208+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037600G= | CA1933420734 | COL17A1 | c.3073+36C= (n.3073+36C=) c.3208+36C= (n.3208+36C=) | |
| 10 | g.104037600G>T | CA2610800279 | COL17A1 | c.3073+36C>A (n.3073+36C>A) c.3208+36C>A (n.3208+36C>A) | gnomAD v4 |
| 10 | g.104037601A= | CA1933420735 | COL17A1 | c.3073+35T= (n.3073+35T=) c.3208+35T= (n.3208+35T=) | |
| 10 | g.104037601A>C | CA5678065 | COL17A1 | c.3073+35T>G (n.3073+35T>G) c.3208+35T>G (n.3208+35T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037608_104037614del | CA2610800280 | COL17A1 | c.3073+28_3073+34del (n.3073+28_3073+34del) c.3208+28_3208+34del (n.3208+28_3208+34del) | gnomAD v4 |
| 10 | g.104037603G>C | CA5678066 | COL17A1 | c.3073+33C>G (n.3073+33C>G) c.3208+33C>G (n.3208+33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037603G= | CA1933420736 | COL17A1 | c.3073+33C= (n.3073+33C=) c.3208+33C= (n.3208+33C=) | |
| 10 | g.104037604G>A | CA2722596861 | COL17A1 | c.3073+32C>T (n.3073+32C>T) c.3208+32C>T (n.3208+32C>T) | dbSNP |
| 10 | g.104037605T>C | CA1933420738 | COL17A1 | c.3073+31A>G (n.3073+31A>G) c.3208+31A>G (n.3208+31A>G) | dbSNP gnomAD v4 |
| 10 | g.104037605T= | CA1933420737 | COL17A1 | c.3073+31A= (n.3073+31A=) c.3208+31A= (n.3208+31A=) | |
| 10 | g.104037606G>A | CA5678067 | COL17A1 | c.3073+30C>T (n.3073+30C>T) c.3208+30C>T (n.3208+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037606G= | CA1933420739 | COL17A1 | c.3073+30C= (n.3073+30C=) c.3208+30C= (n.3208+30C=) | |
| 10 | g.104037607C>T | CA2574660926 | COL17A1 | c.3073+29G>A (n.3073+29G>A) c.3208+29G>A (n.3208+29G>A) | gnomAD v4 |
| 10 | g.104037608C>T | CA2610800285 | COL17A1 | c.3073+28G>A (n.3073+28G>A) c.3208+28G>A (n.3208+28G>A) | gnomAD v4 |
| 10 | g.104037609A= | CA1933420740 | COL17A1 | c.3073+27T= (n.3073+27T=) c.3208+27T= (n.3208+27T=) | |
| 10 | g.104037609A>G | CA595673695 | COL17A1 | c.3073+27T>C (n.3073+27T>C) c.3208+27T>C (n.3208+27T>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104037610G>T | CA2610800286 | COL17A1 | c.3073+26C>A (n.3073+26C>A) c.3208+26C>A (n.3208+26C>A) | gnomAD v4 |
| 10 | g.104037613G>A | CA2610800287 | COL17A1 | c.3073+23C>T (n.3073+23C>T) c.3208+23C>T (n.3208+23C>T) | gnomAD v4 |
| 10 | g.104037614C>T | CA2610800288 | COL17A1 | c.3073+22G>A (n.3073+22G>A) c.3208+22G>A (n.3208+22G>A) | gnomAD v4 |
| 10 | g.104037615A= | CA1933420741 | COL17A1 | c.3073+21T= (n.3073+21T=) c.3208+21T= (n.3208+21T=) | |
| 10 | g.104037616G>A | CA2610800290 | COL17A1 | c.3073+20C>T (n.3073+20C>T) c.3208+20C>T (n.3208+20C>T) | gnomAD v4 |
| 10 | g.104037616G>C | CA2722596866 | COL17A1 | c.3073+20C>G (n.3073+20C>G) c.3208+20C>G (n.3208+20C>G) | dbSNP |
| 10 | g.104037616G>T | CA2610800291 | COL17A1 | c.3073+20C>A (n.3073+20C>A) c.3208+20C>A (n.3208+20C>A) | gnomAD v4 |
| 10 | g.104037617_104037618dup | CA5678068 | COL17A1 | c.3073+19_3073+20dup (n.3073+19_3073+20dup) c.3208+19_3208+20dup (n.3208+19_3208+20dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037618G>A | CA932069884 | COL17A1 | c.3073+18C>T (n.3073+18C>T) c.3208+18C>T (n.3208+18C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037618G= | CA1933420742 | COL17A1 | c.3073+18C= (n.3073+18C=) c.3208+18C= (n.3208+18C=) | |
| 10 | g.104037619C= | CA1933420743 | COL17A1 | c.3073+17G= (n.3073+17G=) c.3208+17G= (n.3208+17G=) | |
| 10 | g.104037619C>T | CA5678069 | COL17A1 | c.3073+17G>A (n.3073+17G>A) c.3208+17G>A (n.3208+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037620G>A | CA5678070 | COL17A1 | c.3073+16C>T (n.3073+16C>T) c.3208+16C>T (n.3208+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037620G>C | CA1933420744 | COL17A1 | c.3073+16C>G (n.3073+16C>G) c.3208+16C>G (n.3208+16C>G) | dbSNP |
| 10 | g.104037620G= | CA1630848489 | COL17A1 | c.3073+16C= (n.3073+16C=) c.3208+16C= (n.3208+16C=) | |
| 10 | g.104037620G>T | CA2580954729 | COL17A1 | c.3073+16C>A (n.3073+16C>A) c.3208+16C>A (n.3208+16C>A) | ClinVar gnomAD v4 |
| 10 | g.104037621T>A | CA5678072 | COL17A1 | c.3073+15A>T (n.3073+15A>T) c.3208+15A>T (n.3208+15A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037621T>G | CA1933420746 | COL17A1 | c.3073+15A>C (n.3073+15A>C) c.3208+15A>C (n.3208+15A>C) | dbSNP gnomAD v4 |
| 10 | g.104037621T= | CA1933420745 | COL17A1 | c.3073+15A= (n.3073+15A=) c.3208+15A= (n.3208+15A=) | |
| 10 | g.104037622G>C | CA2610800295 | COL17A1 | c.3073+14C>G (n.3073+14C>G) c.3208+14C>G (n.3208+14C>G) | gnomAD v4 |
| 10 | g.104037625dup | CA5678071 | COL17A1 | c.3073+14dup (n.3073+14dup) c.3208+14dup (n.3208+14dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037624G>A | CA2610800297 | COL17A1 | c.3073+12C>T (n.3073+12C>T) c.3208+12C>T (n.3208+12C>T) | gnomAD v4 |
| 10 | g.104037624G>T | CA2610800298 | COL17A1 | c.3073+12C>A (n.3073+12C>A) c.3208+12C>A (n.3208+12C>A) | gnomAD v4 |
| 10 | g.104037625G>A | CA2574660927 | COL17A1 | c.3073+11C>T (n.3073+11C>T) c.3208+11C>T (n.3208+11C>T) | |
| 10 | g.104037625G= | CA1933420747 | COL17A1 | c.3073+11C= (n.3073+11C=) c.3208+11C= (n.3208+11C=) | |
| 10 | g.104037625G>T | CA1933420748 | COL17A1 | c.3073+11C>A (n.3073+11C>A) c.3208+11C>A (n.3208+11C>A) | dbSNP gnomAD v4 |
| 10 | g.104037627A= | CA1933420749 | COL17A1 | c.3073+9T= (n.3073+9T=) c.3208+9T= (n.3208+9T=) | |
| 10 | g.104037627A>G | CA595673703 | COL17A1 | c.3073+9T>C (n.3073+9T>C) c.3208+9T>C (n.3208+9T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037627A>T | CA595673704 | COL17A1 | c.3073+9T>A (n.3073+9T>A) c.3208+9T>A (n.3208+9T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037628G>C | CA2574660928 | COL17A1 | c.3073+8C>G (n.3073+8C>G) c.3208+8C>G (n.3208+8C>G) | ClinVar gnomAD v4 |
| 10 | g.104037630_104037631delinsGC | CA1933420750 | COL17A1 | c.3073+5_3073+6delinsGC (n.3073+5_3073+6delinsGC) c.3208+5_3208+6delinsGC (n.3208+5_3208+6delinsGC) | |
| 10 | g.104037631del | CA932069903 | COL17A1 | c.3073+5del (n.3073+5del) c.3208+5del (n.3208+5del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037634A= | CA1933420751 | COL17A1 | c.3073+2T= (n.3073+2T=) c.3208+2T= (n.3208+2T=) | |
| 10 | g.104037634A>C | CA378067069 | COL17A1 | c.3073+2T>G (n.3073+2T>G) c.3208+2T>G (n.3208+2T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037634A>G | CA378067070 | COL17A1 | c.3073+2T>C (n.3073+2T>C) c.3208+2T>C (n.3208+2T>C) | |
| 10 | g.104037634A>T | CA378067071 | COL17A1 | c.3073+2T>A (n.3073+2T>A) c.3208+2T>A (n.3208+2T>A) | |
| 10 | g.104037636_104037651del | CA2695212689 | COL17A1 | c.3060_3073+2del c.3195_3208+2del | |
| 10 | g.104037635C>A | CA378067072 | COL17A1 | c.3073+1G>T (n.3073+1G>T) c.3208+1G>T (n.3208+1G>T) | |
| 10 | g.104037635C>G | CA378067073 | COL17A1 | c.3073+1G>C (n.3073+1G>C) c.3208+1G>C (n.3208+1G>C) | |
| 10 | g.104037635C>T | CA378067074 | COL17A1 | c.3073+1G>A (n.3073+1G>A) c.3208+1G>A (n.3208+1G>A) | |
| 10 | g.104037636T>A | CA378067075 | COL17A1 | c.3073A>T (p.Thr1025Ser) c.3208A>T (p.Thr1070Ser) | |
| 10 | g.104037636T>C | CA5678073 | COL17A1 | c.3073A>G (p.Thr1025Ala) c.3208A>G (p.Thr1070Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037636T>G | CA378067076 | COL17A1 | c.3073A>C (p.Thr1025Pro) c.3208A>C (p.Thr1070Pro) | |
| 10 | g.104037636T= | CA1933420752 | COL17A1 | c.3073A= (p.Thr1025=) c.3208A= (p.Thr1070=) | |
| 10 | g.104037637C>A | CA471343527 | COL17A1 | c.3072G>T (p.Arg1024=) c.3207G>T (p.Arg1069=) | |
| 10 | g.104037637C>G | CA471343528 | COL17A1 | c.3072G>C (p.Arg1024=) c.3207G>C (p.Arg1069=) | |
| 10 | g.104037637C>T | CA471343529 | COL17A1 | c.3072G>A (p.Arg1024=) c.3207G>A (p.Arg1069=) | gnomAD v4 COSMIC |
| 10 | g.104037637_104037638delinsTT | CA645568155 | COL17A1 | c.3071_3072delinsAA (p.Arg1024Gln) c.3206_3207delinsAA (p.Arg1069Gln) | COSMIC |
| 10 | g.104037637_104037639dup | CA2610800305 | COL17A1 | c.3070_3072dup (p.Arg1024_Thr1025insArg) c.3205_3207dup (p.Arg1069_Thr1070insArg) | gnomAD v4 |
| 10 | g.104037638C>A | CA378067078 | COL17A1 | c.3071G>T (p.Arg1024Leu) c.3206G>T (p.Arg1069Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037638C= | CA1933420753 | COL17A1 | c.3071G= (p.Arg1024=) c.3206G= (p.Arg1069=) | |
| 10 | g.104037638C>G | CA378067077 | COL17A1 | c.3071G>C (p.Arg1024Pro) c.3206G>C (p.Arg1069Pro) | dbSNP gnomAD v4 |
| 10 | g.104037638C>T | CA5678074 | COL17A1 | c.3071G>A (p.Arg1024Gln) c.3206G>A (p.Arg1069Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104037639G>A | CA5678076 | COL17A1 | c.3070C>T (p.Arg1024Trp) c.3205C>T (p.Arg1069Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037639G>C | CA5678075 | COL17A1 | c.3070C>G (p.Arg1024Gly) c.3205C>G (p.Arg1069Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037639G= | CA1933420754 | COL17A1 | c.3070C= (p.Arg1024=) c.3205C= (p.Arg1069=) | |
| 10 | g.104037639G>T | CA471343530 | COL17A1 | c.3070C>A (p.Arg1024=) c.3205C>A (p.Arg1069=) | |
| 10 | g.104037640T>A | CA378067079 | COL17A1 | c.3069A>T (p.Leu1023Phe) c.3204A>T (p.Leu1068Phe) | |
| 10 | g.104037640T>C | CA471343531 | COL17A1 | c.3069A>G (p.Leu1023=) c.3204A>G (p.Leu1068=) | gnomAD v4 |
| 10 | g.104037640T>G | CA378067080 | COL17A1 | c.3069A>C (p.Leu1023Phe) c.3204A>C (p.Leu1068Phe) | |
| 10 | g.104037640dup | CA2610800328 | COL17A1 | c.3069dup (p.Arg1024ThrfsTer17) c.3204dup (p.Arg1069ThrfsTer17) | gnomAD v4 |
| 10 | g.104037641A>C | CA378067081 | COL17A1 | c.3068T>G (p.Leu1023Ter) c.3203T>G (p.Leu1068Ter) | |
| 10 | g.104037641A>G | CA378067082 | COL17A1 | c.3068T>C (p.Leu1023Ser) c.3203T>C (p.Leu1068Ser) | |
| 10 | g.104037641A>T | CA378067083 | COL17A1 | c.3068T>A (p.Leu1023Ter) c.3203T>A (p.Leu1068Ter) | |
| 10 | g.104037642A>C | CA378067084 | COL17A1 | c.3067T>G (p.Leu1023Val) c.3202T>G (p.Leu1068Val) | |
| 10 | g.104037642A>G | CA471343532 | COL17A1 | c.3067T>C (p.Leu1023=) c.3202T>C (p.Leu1068=) | |
| 10 | g.104037642A>T | CA378067085 | COL17A1 | c.3067T>A (p.Leu1023Ile) c.3202T>A (p.Leu1068Ile) | |
| 10 | g.104037643G>A | CA471343533 | COL17A1 | c.3066C>T (p.Tyr1022=) c.3201C>T (p.Tyr1067=) | dbSNP |
| 10 | g.104037643G>C | CA378067086 | COL17A1 | c.3066C>G (p.Tyr1022Ter) c.3201C>G (p.Tyr1067Ter) | |
| 10 | g.104037643G= | CA1933420755 | COL17A1 | c.3066C= (p.Tyr1022=) c.3201C= (p.Tyr1067=) | |
| 10 | g.104037643G>T | CA378067087 | COL17A1 | c.3066C>A (p.Tyr1022Ter) c.3201C>A (p.Tyr1067Ter) | |
| 10 | g.104037644T>A | CA378067088 | COL17A1 | c.3065A>T (p.Tyr1022Phe) c.3200A>T (p.Tyr1067Phe) | |
| 10 | g.104037644T>C | CA378067090 | COL17A1 | c.3065A>G (p.Tyr1022Cys) c.3200A>G (p.Tyr1067Cys) | dbSNP gnomAD v4 |
| 10 | g.104037644T>G | CA378067089 | COL17A1 | c.3065A>C (p.Tyr1022Ser) c.3200A>C (p.Tyr1067Ser) | |
| 10 | g.104037644T= | CA1933420756 | COL17A1 | c.3065A= (p.Tyr1022=) c.3200A= (p.Tyr1067=) | |
| 10 | g.104037645A>C | CA378067091 | COL17A1 | c.3064T>G (p.Tyr1022Asp) c.3199T>G (p.Tyr1067Asp) | |
| 10 | g.104037645A>G | CA378067093 | COL17A1 | c.3064T>C (p.Tyr1022His) c.3199T>C (p.Tyr1067His) | |
| 10 | g.104037645A>T | CA378067092 | COL17A1 | c.3064T>A (p.Tyr1022Asn) c.3199T>A (p.Tyr1067Asn) | |
| 10 | g.104037646G>A | CA5678077 | COL17A1 | c.3063C>T (p.Ser1021=) c.3198C>T (p.Ser1066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037646G>C | CA378067095 | COL17A1 | c.3063C>G (p.Ser1021Arg) c.3198C>G (p.Ser1066Arg) | |
| 10 | g.104037646G= | CA1933420757 | COL17A1 | c.3063C= (p.Ser1021=) c.3198C= (p.Ser1066=) | |
| 10 | g.104037646G>T | CA378067094 | COL17A1 | c.3063C>A (p.Ser1021Arg) c.3198C>A (p.Ser1066Arg) | |
| 10 | g.104037647C>A | CA378067096 | COL17A1 | c.3062G>T (p.Ser1021Ile) c.3197G>T (p.Ser1066Ile) | |
| 10 | g.104037647C>G | CA378067098 | COL17A1 | c.3062G>C (p.Ser1021Thr) c.3197G>C (p.Ser1066Thr) | gnomAD v4 |
| 10 | g.104037647C>T | CA378067097 | COL17A1 | c.3062G>A (p.Ser1021Asn) c.3197G>A (p.Ser1066Asn) | |
| 10 | g.104037648T>A | CA378067099 | COL17A1 | c.3061A>T (p.Ser1021Cys) c.3196A>T (p.Ser1066Cys) | |
| 10 | g.104037648T>C | CA378067101 | COL17A1 | c.3061A>G (p.Ser1021Gly) c.3196A>G (p.Ser1066Gly) | |
| 10 | g.104037648T>G | CA378067100 | COL17A1 | c.3061A>C (p.Ser1021Arg) c.3196A>C (p.Ser1066Arg) | |
| 10 | g.104037649C>A | CA471343534 | COL17A1 | c.3060G>T (p.Val1020=) c.3195G>T (p.Val1065=) | |
| 10 | g.104037649C>G | CA471343535 | COL17A1 | c.3060G>C (p.Val1020=) c.3195G>C (p.Val1065=) | |
| 10 | g.104037649C>T | CA471343536 | COL17A1 | c.3060G>A (p.Val1020=) c.3195G>A (p.Val1065=) | gnomAD v4 |
| 10 | g.104037650A= | CA1933420758 | COL17A1 | c.3059T= (p.Val1020=) c.3194T= (p.Val1065=) | |
| 10 | g.104037650A>C | CA378067102 | COL17A1 | c.3059T>G (p.Val1020Gly) c.3194T>G (p.Val1065Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037650A>G | CA378067104 | COL17A1 | c.3059T>C (p.Val1020Ala) c.3194T>C (p.Val1065Ala) | |
| 10 | g.104037650A>T | CA378067103 | COL17A1 | c.3059T>A (p.Val1020Glu) c.3194T>A (p.Val1065Glu) | |
| 10 | g.104037651C>A | CA378067105 | COL17A1 | c.3058G>T (p.Val1020Leu) c.3193G>T (p.Val1065Leu) | |
| 10 | g.104037651C= | CA1933420759 | COL17A1 | c.3058G= (p.Val1020=) c.3193G= (p.Val1065=) | |
| 10 | g.104037651C>G | CA378067106 | COL17A1 | c.3058G>C (p.Val1020Leu) c.3193G>C (p.Val1065Leu) | |
| 10 | g.104037651C>T | CA378067107 | COL17A1 | c.3058G>A (p.Val1020Met) c.3193G>A (p.Val1065Met) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037652A>C | CA471343537 | COL17A1 | c.3057T>G (p.Val1019=) c.3192T>G (p.Val1064=) | |
| 10 | g.104037652A>G | CA471343538 | COL17A1 | c.3057T>C (p.Val1019=) c.3192T>C (p.Val1064=) | |
| 10 | g.104037652A>T | CA471343539 | COL17A1 | c.3057T>A (p.Val1019=) c.3192T>A (p.Val1064=) | |
| 10 | g.104037653A= | CA1933420760 | COL17A1 | c.3056T= (p.Val1019=) c.3191T= (p.Val1064=) | |
| 10 | g.104037653A>C | CA378067108 | COL17A1 | c.3056T>G (p.Val1019Gly) c.3191T>G (p.Val1064Gly) | |
| 10 | g.104037653A>G | CA378067109 | COL17A1 | c.3056T>C (p.Val1019Ala) c.3191T>C (p.Val1064Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104037653A>T | CA378067110 | COL17A1 | c.3056T>A (p.Val1019Asp) c.3191T>A (p.Val1064Asp) | |
| 10 | g.104037654C>A | CA378067111 | COL17A1 | c.3055G>T (p.Val1019Phe) c.3190G>T (p.Val1064Phe) | |
| 10 | g.104037654C= | CA1933420761 | COL17A1 | c.3055G= (p.Val1019=) c.3190G= (p.Val1064=) | |
| 10 | g.104037654C>G | CA378067112 | COL17A1 | c.3055G>C (p.Val1019Leu) c.3190G>C (p.Val1064Leu) | dbSNP |
| 10 | g.104037654C>T | CA5678078 | COL17A1 | c.3055G>A (p.Val1019Ile) c.3190G>A (p.Val1064Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037655G>A | CA5678079 | COL17A1 | c.3054C>T (p.His1018=) c.3189C>T (p.His1063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037655G>C | CA378067113 | COL17A1 | c.3054C>G (p.His1018Gln) c.3189C>G (p.His1063Gln) | |
| 10 | g.104037655G= | CA1933420762 | COL17A1 | c.3054C= (p.His1018=) c.3189C= (p.His1063=) | |
| 10 | g.104037655G>T | CA378067114 | COL17A1 | c.3054C>A (p.His1018Gln) c.3189C>A (p.His1063Gln) | |
| 10 | g.104037656T>A | CA378067115 | COL17A1 | c.3053A>T (p.His1018Leu) c.3188A>T (p.His1063Leu) | |
| 10 | g.104037656T>C | CA378067117 | COL17A1 | c.3053A>G (p.His1018Arg) c.3188A>G (p.His1063Arg) | |
| 10 | g.104037656T>G | CA378067116 | COL17A1 | c.3053A>C (p.His1018Pro) c.3188A>C (p.His1063Pro) | |
| 10 | g.104037657G>A | CA378067118 | COL17A1 | c.3052C>T (p.His1018Tyr) c.3187C>T (p.His1063Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037657G>C | CA378067119 | COL17A1 | c.3052C>G (p.His1018Asp) c.3187C>G (p.His1063Asp) | |
| 10 | g.104037657G= | CA1933420763 | COL17A1 | c.3052C= (p.His1018=) c.3187C= (p.His1063=) | |
| 10 | g.104037657G>T | CA378067120 | COL17A1 | c.3052C>A (p.His1018Asn) c.3187C>A (p.His1063Asn) | |
| 10 | g.104037658G>A | CA471343669 | COL17A1 | c.3051C>T (p.Ser1017=) c.3186C>T (p.Ser1062=) | |
| 10 | g.104037658G>C | CA378067121 | COL17A1 | c.3051C>G (p.Ser1017Arg) c.3186C>G (p.Ser1062Arg) | gnomAD v4 |
| 10 | g.104037658G>T | CA378067122 | COL17A1 | c.3051C>A (p.Ser1017Arg) c.3186C>A (p.Ser1062Arg) | |
| 10 | g.104037659C>A | CA378067123 | COL17A1 | c.3050G>T (p.Ser1017Ile) c.3185G>T (p.Ser1062Ile) | |
| 10 | g.104037659C>G | CA378067124 | COL17A1 | c.3050G>C (p.Ser1017Thr) c.3185G>C (p.Ser1062Thr) | |
| 10 | g.104037659C>T | CA378067125 | COL17A1 | c.3050G>A (p.Ser1017Asn) c.3185G>A (p.Ser1062Asn) | |
| 10 | g.104037660T>A | CA378067128 | COL17A1 | c.3049A>T (p.Ser1017Cys) c.3184A>T (p.Ser1062Cys) | |
| 10 | g.104037660T>C | CA378067127 | COL17A1 | c.3049A>G (p.Ser1017Gly) c.3184A>G (p.Ser1062Gly) | |
| 10 | g.104037660T>G | CA378067126 | COL17A1 | c.3049A>C (p.Ser1017Arg) c.3184A>C (p.Ser1062Arg) | |
| 10 | g.104037661T>A | CA471343674 | COL17A1 | c.3048A>T (p.Ala1016=) c.3183A>T (p.Ala1061=) | |
| 10 | g.104037661T>C | CA471343675 | COL17A1 | c.3048A>G (p.Ala1016=) c.3183A>G (p.Ala1061=) | |
| 10 | g.104037661T>G | CA471343677 | COL17A1 | c.3048A>C (p.Ala1016=) c.3183A>C (p.Ala1061=) | |
| 10 | g.104037662G>A | CA378067129 | COL17A1 | c.3047C>T (p.Ala1016Val) c.3182C>T (p.Ala1061Val) | |
| 10 | g.104037662G>C | CA378067130 | COL17A1 | c.3047C>G (p.Ala1016Gly) c.3182C>G (p.Ala1061Gly) | |
| 10 | g.104037662G= | CA1933420764 | COL17A1 | c.3047C= (p.Ala1016=) c.3182C= (p.Ala1061=) | |
| 10 | g.104037662G>T | CA212458544 | COL17A1 | c.3047C>A (p.Ala1016Glu) c.3182C>A (p.Ala1061Glu) | dbSNP |
| 10 | g.104037663C>A | CA378067131 | COL17A1 | c.3046G>T (p.Ala1016Ser) c.3181G>T (p.Ala1061Ser) | |
| 10 | g.104037663C>G | CA378067132 | COL17A1 | c.3046G>C (p.Ala1016Pro) c.3181G>C (p.Ala1061Pro) | |
| 10 | g.104037663C>T | CA378067133 | COL17A1 | c.3046G>A (p.Ala1016Thr) c.3181G>A (p.Ala1061Thr) | COSMIC |
| 10 | g.104037664C>A | CA471343684 | COL17A1 | c.3045G>T (p.Leu1015=) c.3180G>T (p.Leu1060=) | |
| 10 | g.104037664C= | CA1933420765 | COL17A1 | c.3045G= (p.Leu1015=) c.3180G= (p.Leu1060=) | |
| 10 | g.104037664C>G | CA471343686 | COL17A1 | c.3045G>C (p.Leu1015=) c.3180G>C (p.Leu1060=) | |
| 10 | g.104037664C>T | CA5678080 | COL17A1 | c.3045G>A (p.Leu1015=) c.3180G>A (p.Leu1060=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037665A>C | CA378067134 | COL17A1 | c.3044T>G (p.Leu1015Arg) c.3179T>G (p.Leu1060Arg) | |
| 10 | g.104037665A>G | CA378067135 | COL17A1 | c.3044T>C (p.Leu1015Pro) c.3179T>C (p.Leu1060Pro) | |
| 10 | g.104037665A>T | CA378067136 | COL17A1 | c.3044T>A (p.Leu1015Gln) c.3179T>A (p.Leu1060Gln) | gnomAD v4 |
| 10 | g.104037666G>A | CA471343689 | COL17A1 | c.3043C>T (p.Leu1015=) c.3178C>T (p.Leu1060=) | |
| 10 | g.104037666G>C | CA378067137 | COL17A1 | c.3043C>G (p.Leu1015Val) c.3178C>G (p.Leu1060Val) | |
| 10 | g.104037666G>T | CA378067138 | COL17A1 | c.3043C>A (p.Leu1015Met) c.3178C>A (p.Leu1060Met) | |
| 10 | g.104037667C>A | CA378067140 | COL17A1 | c.3042G>T (p.Glu1014Asp) c.3177G>T (p.Glu1059Asp) | |
| 10 | g.104037667C>G | CA378067139 | COL17A1 | c.3042G>C (p.Glu1014Asp) c.3177G>C (p.Glu1059Asp) | |
| 10 | g.104037667C>T | CA471343690 | COL17A1 | c.3042G>A (p.Glu1014=) c.3177G>A (p.Glu1059=) | ClinVar gnomAD v4 |
| 10 | g.104037669_104037670del | CA2610800410 | COL17A1 | c.3041_3042del (p.Glu1014AlafsTer26) c.3176_3177del (p.Glu1059AlafsTer26) | gnomAD v4 |
| 10 | g.104037668T>A | CA378067141 | COL17A1 | c.3041A>T (p.Glu1014Val) c.3176A>T (p.Glu1059Val) | |
| 10 | g.104037668T>C | CA378067142 | COL17A1 | c.3041A>G (p.Glu1014Gly) c.3176A>G (p.Glu1059Gly) | gnomAD v4 |
| 10 | g.104037668T>G | CA378067143 | COL17A1 | c.3041A>C (p.Glu1014Ala) c.3176A>C (p.Glu1059Ala) | |
| 10 | g.104037669del | CA2695212691 | COL17A1 | c.3040del (p.Glu1014SerfsTer7) c.3175del (p.Glu1059SerfsTer7) | |
| 10 | g.104037669C>A | CA378067144 | COL17A1 | c.3040G>T (p.Glu1014Ter) c.3175G>T (p.Glu1059Ter) | |
| 10 | g.104037669C>G | CA378067145 | COL17A1 | c.3040G>C (p.Glu1014Gln) c.3175G>C (p.Glu1059Gln) | |
| 10 | g.104037669C>T | CA378067146 | COL17A1 | c.3040G>A (p.Glu1014Lys) c.3175G>A (p.Glu1059Lys) | gnomAD v4 |
| 10 | g.104037670T>A | CA471343697 | COL17A1 | c.3039A>T (p.Ser1013=) c.3174A>T (p.Ser1058=) | |
| 10 | g.104037670T>C | CA471343699 | COL17A1 | c.3039A>G (p.Ser1013=) c.3174A>G (p.Ser1058=) | |
| 10 | g.104037670T>G | CA471343700 | COL17A1 | c.3039A>C (p.Ser1013=) c.3174A>C (p.Ser1058=) | |
| 10 | g.104037670dup | CA2739276025 | COL17A1 | c.3039dup (p.Glu1014ArgfsTer27) c.3174dup (p.Glu1059ArgfsTer27) | ClinVar |
| 10 | g.104037671G>A | CA378067147 | COL17A1 | c.3038C>T (p.Ser1013Leu) c.3173C>T (p.Ser1058Leu) | |
| 10 | g.104037671G>C | CA378067148 | COL17A1 | c.3038C>G (p.Ser1013Ter) c.3173C>G (p.Ser1058Ter) | ClinVar |
| 10 | g.104037671G>T | CA378067149 | COL17A1 | c.3038C>A (p.Ser1013Ter) c.3173C>A (p.Ser1058Ter) | |
| 10 | g.104037671_104037673del | CA2695212692 | COL17A1 | c.3036_3038del (p.Tyr1012Ter) c.3171_3173del (p.Tyr1057Ter) | |
| 10 | g.104037672A>C | CA378067150 | COL17A1 | c.3037T>G (p.Ser1013Ala) c.3172T>G (p.Ser1058Ala) | |
| 10 | g.104037672A>G | CA378067151 | COL17A1 | c.3037T>C (p.Ser1013Pro) c.3172T>C (p.Ser1058Pro) | |
| 10 | g.104037672A>T | CA378067152 | COL17A1 | c.3037T>A (p.Ser1013Thr) c.3172T>A (p.Ser1058Thr) | |
| 10 | g.104037673G>A | CA471343707 | COL17A1 | c.3036C>T (p.Tyr1012=) c.3171C>T (p.Tyr1057=) | |
| 10 | g.104037673G>C | CA378067154 | COL17A1 | c.3036C>G (p.Tyr1012Ter) c.3171C>G (p.Tyr1057Ter) | |
| 10 | g.104037673G>T | CA378067153 | COL17A1 | c.3036C>A (p.Tyr1012Ter) c.3171C>A (p.Tyr1057Ter) | |
| 10 | g.104037674T>A | CA212458545 | COL17A1 | c.3035A>T (p.Tyr1012Phe) c.3170A>T (p.Tyr1057Phe) | dbSNP gnomAD v4 |
| 10 | g.104037674T>C | CA378067156 | COL17A1 | c.3035A>G (p.Tyr1012Cys) c.3170A>G (p.Tyr1057Cys) | |
| 10 | g.104037674T>G | CA378067155 | COL17A1 | c.3035A>C (p.Tyr1012Ser) c.3170A>C (p.Tyr1057Ser) | |
| 10 | g.104037674T= | CA1933420766 | COL17A1 | c.3035A= (p.Tyr1012=) c.3170A= (p.Tyr1057=) | |
| 10 | g.104037675A>C | CA378067157 | COL17A1 | c.3034T>G (p.Tyr1012Asp) c.3169T>G (p.Tyr1057Asp) | |
| 10 | g.104037675A>G | CA378067158 | COL17A1 | c.3034T>C (p.Tyr1012His) c.3169T>C (p.Tyr1057His) | |
| 10 | g.104037675A>T | CA378067159 | COL17A1 | c.3034T>A (p.Tyr1012Asn) c.3169T>A (p.Tyr1057Asn) | |
| 10 | g.104037676G>A | CA471343714 | COL17A1 | c.3033C>T (p.Asp1011=) c.3168C>T (p.Asp1056=) | gnomAD v4 |
| 10 | g.104037676G>C | CA378067160 | COL17A1 | c.3033C>G (p.Asp1011Glu) c.3168C>G (p.Asp1056Glu) | |
| 10 | g.104037676G>T | CA378067161 | COL17A1 | c.3033C>A (p.Asp1011Glu) c.3168C>A (p.Asp1056Glu) | COSMIC |
| 10 | g.104037677T>A | CA378067162 | COL17A1 | c.3032A>T (p.Asp1011Val) c.3167A>T (p.Asp1056Val) | |
| 10 | g.104037677T>C | CA378067163 | COL17A1 | c.3032A>G (p.Asp1011Gly) c.3167A>G (p.Asp1056Gly) | gnomAD v4 |
| 10 | g.104037677T>G | CA378067164 | COL17A1 | c.3032A>C (p.Asp1011Ala) c.3167A>C (p.Asp1056Ala) | |
| 10 | g.104037678C>A | CA378067165 | COL17A1 | c.3031G>T (p.Asp1011Tyr) c.3166G>T (p.Asp1056Tyr) | |
| 10 | g.104037678C= | CA1933420767 | COL17A1 | c.3031G= (p.Asp1011=) c.3166G= (p.Asp1056=) | |
| 10 | g.104037678C>G | CA378067166 | COL17A1 | c.3031G>C (p.Asp1011His) c.3166G>C (p.Asp1056His) | |
| 10 | g.104037678C>T | CA5678081 | COL17A1 | c.3031G>A (p.Asp1011Asn) c.3166G>A (p.Asp1056Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037679G>A | CA471343727 | COL17A1 | c.3030C>T (p.Phe1010=) c.3165C>T (p.Phe1055=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104037679G>C | CA378067168 | COL17A1 | c.3030C>G (p.Phe1010Leu) c.3165C>G (p.Phe1055Leu) | gnomAD v4 |
| 10 | g.104037679G= | CA1933420768 | COL17A1 | c.3030C= (p.Phe1010=) c.3165C= (p.Phe1055=) | |
| 10 | g.104037679G>T | CA378067167 | COL17A1 | c.3030C>A (p.Phe1010Leu) c.3165C>A (p.Phe1055Leu) | |
| 10 | g.104037679_104037680delinsGA | CA1933420769 | COL17A1 | c.3029_3030delinsTC (p.Phe1010=) c.3164_3165delinsTC (p.Phe1055=) | |
| 10 | g.104037680A= | CA1933420770 | COL17A1 | c.3029T= (p.Phe1010=) c.3164T= (p.Phe1055=) | |
| 10 | g.104037680A>C | CA378067169 | COL17A1 | c.3029T>G (p.Phe1010Cys) c.3164T>G (p.Phe1055Cys) | |
| 10 | g.104037680A>G | CA5678082 | COL17A1 | c.3029T>C (p.Phe1010Ser) c.3164T>C (p.Phe1055Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037680A>T | CA378067170 | COL17A1 | c.3029T>A (p.Phe1010Tyr) c.3164T>A (p.Phe1055Tyr) | |
| 10 | g.104037682del | CA932069946 | COL17A1 | c.3029del (p.Phe1010SerfsTer11) c.3164del (p.Phe1055SerfsTer11) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037681A>C | CA378067171 | COL17A1 | c.3028T>G (p.Phe1010Val) c.3163T>G (p.Phe1055Val) | |
| 10 | g.104037681A>G | CA378067172 | COL17A1 | c.3028T>C (p.Phe1010Leu) c.3163T>C (p.Phe1055Leu) | |
| 10 | g.104037681A>T | CA378067173 | COL17A1 | c.3028T>A (p.Phe1010Ile) c.3163T>A (p.Phe1055Ile) | |
| 10 | g.104037682A>C | CA471343735 | COL17A1 | c.3027T>G (p.Thr1009=) c.3162T>G (p.Thr1054=) | |
| 10 | g.104037682A>G | CA471343738 | COL17A1 | c.3027T>C (p.Thr1009=) c.3162T>C (p.Thr1054=) | |
| 10 | g.104037682A>T | CA471343737 | COL17A1 | c.3027T>A (p.Thr1009=) c.3162T>A (p.Thr1054=) | |
| 10 | g.104037683G>A | CA5678083 | COL17A1 | c.3026C>T (p.Thr1009Ile) c.3161C>T (p.Thr1054Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037683G>C | CA378067174 | COL17A1 | c.3026C>G (p.Thr1009Ser) c.3161C>G (p.Thr1054Ser) | |
| 10 | g.104037683G= | CA1933420771 | COL17A1 | c.3026C= (p.Thr1009=) c.3161C= (p.Thr1054=) | |
| 10 | g.104037683G>T | CA378067175 | COL17A1 | c.3026C>A (p.Thr1009Asn) c.3161C>A (p.Thr1054Asn) | |
| 10 | g.104037684T>A | CA378067176 | COL17A1 | c.3025A>T (p.Thr1009Ser) c.3160A>T (p.Thr1054Ser) | gnomAD v4 |
| 10 | g.104037684T>C | CA378067177 | COL17A1 | c.3025A>G (p.Thr1009Ala) c.3160A>G (p.Thr1054Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037684T>G | CA378067178 | COL17A1 | c.3025A>C (p.Thr1009Pro) c.3160A>C (p.Thr1054Pro) | |
| 10 | g.104037684T= | CA1933420772 | COL17A1 | c.3025A= (p.Thr1009=) c.3160A= (p.Thr1054=) | |
| 10 | g.104037685C>A | CA378067180 | COL17A1 | c.3024G>T (p.Glu1008Asp) c.3159G>T (p.Glu1053Asp) | |
| 10 | g.104037685C>G | CA378067179 | COL17A1 | c.3024G>C (p.Glu1008Asp) c.3159G>C (p.Glu1053Asp) | gnomAD v4 |
| 10 | g.104037685C>T | CA471343745 | COL17A1 | c.3024G>A (p.Glu1008=) c.3159G>A (p.Glu1053=) | ClinVar |
| 10 | g.104037686T>A | CA378067181 | COL17A1 | c.3023A>T (p.Glu1008Val) c.3158A>T (p.Glu1053Val) | |
| 10 | g.104037686T>C | CA378067182 | COL17A1 | c.3023A>G (p.Glu1008Gly) c.3158A>G (p.Glu1053Gly) | |
| 10 | g.104037686T>G | CA378067183 | COL17A1 | c.3023A>C (p.Glu1008Ala) c.3158A>C (p.Glu1053Ala) | |
| 10 | g.104037687C>A | CA378067184 | COL17A1 | c.3022G>T (p.Glu1008Ter) c.3157G>T (p.Glu1053Ter) | |
| 10 | g.104037687C= | CA1933420773 | COL17A1 | c.3022G= (p.Glu1008=) c.3157G= (p.Glu1053=) | |
| 10 | g.104037687C>G | CA378067185 | COL17A1 | c.3022G>C (p.Glu1008Gln) c.3157G>C (p.Glu1053Gln) | |
| 10 | g.104037687C>T | CA212458559 | COL17A1 | c.3022G>A (p.Glu1008Lys) c.3157G>A (p.Glu1053Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037688G>A | CA204962 | COL17A1 | c.3021C>T (p.Gly1007=) c.3156C>T (p.Gly1052=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037688G>C | CA471343759 | COL17A1 | c.3021C>G (p.Gly1007=) c.3156C>G (p.Gly1052=) | |
| 10 | g.104037688G= | CA1933420774 | COL17A1 | c.3021C= (p.Gly1007=) c.3156C= (p.Gly1052=) | |
| 10 | g.104037688G>T | CA471343761 | COL17A1 | c.3021C>A (p.Gly1007=) c.3156C>A (p.Gly1052=) | |
| 10 | g.104037688_104037691delinsGCCT | CA1933420775 | COL17A1 | c.3018_3021delinsAGGC (p.Thr1006=) c.3153_3156delinsAGGC (p.Thr1051=) | |
| 10 | g.104037689C>A | CA378067186 | COL17A1 | c.3020G>T (p.Gly1007Val) c.3155G>T (p.Gly1052Val) | COSMIC |
| 10 | g.104037689C= | CA1933420776 | COL17A1 | c.3020G= (p.Gly1007=) c.3155G= (p.Gly1052=) | |
| 10 | g.104037689C>G | CA378067187 | COL17A1 | c.3020G>C (p.Gly1007Ala) c.3155G>C (p.Gly1052Ala) | |
| 10 | g.104037689C>T | CA378067188 | COL17A1 | c.3020G>A (p.Gly1007Asp) c.3155G>A (p.Gly1052Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037689_104037691del | CA659182180 | COL17A1 | c.3018_3020del (p.Gly1007del) c.3153_3155del (p.Gly1052del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037690C>A | CA378067189 | COL17A1 | c.3019G>T (p.Gly1007Cys) c.3154G>T (p.Gly1052Cys) | |
| 10 | g.104037690C>G | CA378067190 | COL17A1 | c.3019G>C (p.Gly1007Arg) c.3154G>C (p.Gly1052Arg) | |
| 10 | g.104037690C>T | CA378067191 | COL17A1 | c.3019G>A (p.Gly1007Ser) c.3154G>A (p.Gly1052Ser) | |
| 10 | g.104037691T>A | CA471343773 | COL17A1 | c.3018A>T (p.Thr1006=) c.3153A>T (p.Thr1051=) | |
| 10 | g.104037691T>C | CA471343775 | COL17A1 | c.3018A>G (p.Thr1006=) c.3153A>G (p.Thr1051=) | |
| 10 | g.104037691T>G | CA471343777 | COL17A1 | c.3018A>C (p.Thr1006=) c.3153A>C (p.Thr1051=) | |
| 10 | g.104037692G>A | CA378067194 | COL17A1 | c.3017C>T (p.Thr1006Ile) c.3152C>T (p.Thr1051Ile) | |
| 10 | g.104037692G>C | CA378067192 | COL17A1 | c.3017C>G (p.Thr1006Arg) c.3152C>G (p.Thr1051Arg) | |
| 10 | g.104037692G>T | CA378067193 | COL17A1 | c.3017C>A (p.Thr1006Lys) c.3152C>A (p.Thr1051Lys) |