Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104038214_104038222delinsGGACACATA | CA1933389802 | COL17A1 | c.2935+184_2935+192delinsTATGTGTCC (n.2935+184_2935+192delinsTATGTGTCC) c.3070+184_3070+192delinsTATGTGTCC (n.3070+184_3070+192delinsTATGTGTCC) | |
10 | g.104038215_104038217delinsGAC | CA1933389806 | COL17A1 | c.2935+189_2935+191delinsGTC (n.2935+189_2935+191delinsGTC) c.3070+189_3070+191delinsGTC (n.3070+189_3070+191delinsGTC) | |
10 | g.104038221_104038228del | CA1933389804 | COL17A1 | c.2935+184_2935+191del (n.2935+184_2935+191del) c.3070+184_3070+191del (n.3070+184_3070+191del) | dbSNP |
10 | g.104038219_104038220del | CA659182536 | COL17A1 | c.2935+189_2935+190del (n.2935+189_2935+190del) c.3070+189_3070+190del (n.3070+189_3070+190del) | dbSNP |
10 | g.104038223_104038232del | CA2722590306 | COL17A1 | c.2935+181_2935+190del (n.2935+181_2935+190del) c.3070+181_3070+190del (n.3070+181_3070+190del) | dbSNP |
10 | g.104038218A= | CA1933389808 | COL17A1 | c.2935+188T= (n.2935+188T=) c.3070+188T= (n.3070+188T=) | |
10 | g.104038218A>G | CA212458961 | COL17A1 | c.2935+188T>C (n.2935+188T>C) c.3070+188T>C (n.3070+188T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038220A= | CA1933389809 | COL17A1 | c.2935+186T= (n.2935+186T=) c.3070+186T= (n.3070+186T=) | |
10 | g.104038220A>G | CA932070142 | COL17A1 | c.2935+186T>C (n.2935+186T>C) c.3070+186T>C (n.3070+186T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038221T>C | CA212458977 | COL17A1 | c.2935+185A>G (n.2935+185A>G) c.3070+185A>G (n.3070+185A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038221T= | CA1933389810 | COL17A1 | c.2935+185A= (n.2935+185A=) c.3070+185A= (n.3070+185A=) | |
10 | g.104038221_104038233delinsTAGACACACATAC | CA1933389811 | COL17A1 | c.2935+173_2935+185delinsGTATGTGTGTCTA (n.2935+173_2935+185delinsGTATGTGTGTCTA) c.3070+173_3070+185delinsGTATGTGTGTCTA (n.3070+173_3070+185delinsGTATGTGTGTCTA) | |
10 | g.104038222A>G | CA2722590341 | COL17A1 | c.2935+184T>C (n.2935+184T>C) c.3070+184T>C (n.3070+184T>C) | dbSNP |
10 | g.104038223_104038234del | CA595674020 | COL17A1 | c.2935+173_2935+184del (n.2935+173_2935+184del) c.3070+173_3070+184del (n.3070+173_3070+184del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038223_104038238del | CA2722590356 | COL17A1 | c.2935+169_2935+184del (n.2935+169_2935+184del) c.3070+169_3070+184del (n.3070+169_3070+184del) | dbSNP |
10 | g.104038223G>C | CA212458992 | COL17A1 | c.2935+183C>G (n.2935+183C>G) c.3070+183C>G (n.3070+183C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038223G= | CA1933389813 | COL17A1 | c.2935+183C= (n.2935+183C=) c.3070+183C= (n.3070+183C=) | |
10 | g.104038223G>T | CA932070146 | COL17A1 | c.2935+183C>A (n.2935+183C>A) c.3070+183C>A (n.3070+183C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038223_104038227delinsGACAC | CA1933389822 | COL17A1 | c.2935+179_2935+183delinsGTGTC (n.2935+179_2935+183delinsGTGTC) c.3070+179_3070+183delinsGTGTC (n.3070+179_3070+183delinsGTGTC) | |
10 | g.104038223_104038231delinsGACACACAT | CA1933389815 | COL17A1 | c.2935+175_2935+183delinsATGTGTGTC (n.2935+175_2935+183delinsATGTGTGTC) c.3070+175_3070+183delinsATGTGTGTC (n.3070+175_3070+183delinsATGTGTGTC) | |
10 | g.104038223_104038233delinsGACACACATAC | CA1933389812 | COL17A1 | c.2935+173_2935+183delinsGTATGTGTGTC (n.2935+173_2935+183delinsGTATGTGTGTC) c.3070+173_3070+183delinsGTATGTGTGTC (n.3070+173_3070+183delinsGTATGTGTGTC) | |
10 | g.104038223_104038235delinsGACACACATACAC | CA1933389816 | COL17A1 | c.2935+171_2935+183delinsGTGTATGTGTGTC (n.2935+171_2935+183delinsGTGTATGTGTGTC) c.3070+171_3070+183delinsGTGTATGTGTGTC (n.3070+171_3070+183delinsGTGTATGTGTGTC) | |
10 | g.104038223_104038237delinsGACACACATACACAC | CA1933389817 | COL17A1 | c.2935+169_2935+183delinsGTGTGTATGTGTGTC (n.2935+169_2935+183delinsGTGTGTATGTGTGTC) c.3070+169_3070+183delinsGTGTGTATGTGTGTC (n.3070+169_3070+183delinsGTGTGTATGTGTGTC) | |
10 | g.104038223_104038239delinsGACACACATACACACAC | CA1933389818 | COL17A1 | c.2935+167_2935+183delinsGTGTGTGTATGTGTGTC (n.2935+167_2935+183delinsGTGTGTGTATGTGTGTC) c.3070+167_3070+183delinsGTGTGTGTATGTGTGTC (n.3070+167_3070+183delinsGTGTGTGTATGTGTGTC) | |
10 | g.104038223_104038243delinsGACACACATACACACACACAC | CA1933389814 | COL17A1 | c.2935+163_2935+183delinsGTGTGTGTGTGTATGTGTGTC (n.2935+163_2935+183delinsGTGTGTGTGTGTATGTGTGTC) c.3070+163_3070+183delinsGTGTGTGTGTGTATGTGTGTC (n.3070+163_3070+183delinsGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038223_104038245delinsGACACACATACACACACACACAC | CA1933389819 | COL17A1 | c.2935+161_2935+183delinsGTGTGTGTGTGTGTATGTGTGTC (n.2935+161_2935+183delinsGTGTGTGTGTGTGTATGTGTGTC) c.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC (n.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038223_104038255delinsGACACACATACACACACACACACACACACACAC | CA1933389820 | COL17A1 | c.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) c.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038223_104038267delinsGACACACATACACACACACACACACACACACACACACACACACAC | CA1933389821 | COL17A1 | c.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) c.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038226_104038227insTACA | CA595674021 | COL17A1 | c.2935+182_2935+183insATGT (n.2935+182_2935+183insATGT) c.3070+182_3070+183insATGT (n.3070+182_3070+183insATGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038226_104038227insTACACACA | CA2589049461 | COL17A1 | c.2935+182_2935+183insGTGTATGT (n.2935+182_2935+183insGTGTATGT) c.3070+182_3070+183insGTGTATGT (n.3070+182_3070+183insGTGTATGT) | gnomAD v3 gnomAD v4 |
10 | g.104038230_104038231insCACACACA | CA932070171 | COL17A1 | c.2935+182_2935+183insGTGTGTGT (n.2935+182_2935+183insGTGTGTGT) c.3070+182_3070+183insGTGTGTGT (n.3070+182_3070+183insGTGTGTGT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038230_104038231insCACACACACA | CA932070169 | COL17A1 | c.2935+182_2935+183insGTGTGTGTGT (n.2935+182_2935+183insGTGTGTGTGT) c.3070+182_3070+183insGTGTGTGTGT (n.3070+182_3070+183insGTGTGTGTGT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038229_104038230dup | CA659182589 | COL17A1 | c.2935+181_2935+182dup (n.2935+181_2935+182dup) c.3070+181_3070+182dup (n.3070+181_3070+182dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038227_104038230dup | CA932070164 | COL17A1 | c.2935+179_2935+182dup (n.2935+179_2935+182dup) c.3070+179_3070+182dup (n.3070+179_3070+182dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038225_104038230dup | CA659182587 | COL17A1 | c.2935+177_2935+182dup (n.2935+177_2935+182dup) c.3070+177_3070+182dup (n.3070+177_3070+182dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038227_104038230del | CA595674024 | COL17A1 | c.2935+179_2935+182del (n.2935+179_2935+182del) c.3070+179_3070+182del (n.3070+179_3070+182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038231_104038238del | CA659182579 | COL17A1 | c.2935+175_2935+182del (n.2935+175_2935+182del) c.3070+175_3070+182del (n.3070+175_3070+182del) | dbSNP gnomAD v4 |
10 | g.104038231_104038240del | CA913516636 | COL17A1 | c.2935+173_2935+182del (n.2935+173_2935+182del) c.3070+173_3070+182del (n.3070+173_3070+182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038231_104038242del | CA918751207 | COL17A1 | c.2935+171_2935+182del (n.2935+171_2935+182del) c.3070+171_3070+182del (n.3070+171_3070+182del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038231_104038244del | CA595674022 | COL17A1 | c.2935+169_2935+182del (n.2935+169_2935+182del) c.3070+169_3070+182del (n.3070+169_3070+182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038231_104038246del | CA595674023 | COL17A1 | c.2935+167_2935+182del (n.2935+167_2935+182del) c.3070+167_3070+182del (n.3070+167_3070+182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038231_104038248del | CA2789321295 | COL17A1 | c.2935+165_2935+182del (n.2935+165_2935+182del) c.3070+165_3070+182del (n.3070+165_3070+182del) | |
10 | g.104038231_104038250del | CA659182594 | COL17A1 | c.2935+163_2935+182del (n.2935+163_2935+182del) c.3070+163_3070+182del (n.3070+163_3070+182del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038231_104038252del | CA1933389823 | COL17A1 | c.2935+161_2935+182del (n.2935+161_2935+182del) c.3070+161_3070+182del (n.3070+161_3070+182del) | dbSNP |
10 | g.104038231_104038262del | CA932070160 | COL17A1 | c.2935+151_2935+182del (n.2935+151_2935+182del) c.3070+151_3070+182del (n.3070+151_3070+182del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038231_104038274del | CA1933389824 | COL17A1 | c.2935+139_2935+182del (n.2935+139_2935+182del) c.3070+139_3070+182del (n.3070+139_3070+182del) | dbSNP |
10 | g.104038225C= | CA1933389825 | COL17A1 | c.2935+181G= (n.2935+181G=) c.3070+181G= (n.3070+181G=) | |
10 | g.104038225C>T | CA659182604 | COL17A1 | c.2935+181G>A (n.2935+181G>A) c.3070+181G>A (n.3070+181G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038225_104038231delinsCACACAT | CA1933389826 | COL17A1 | c.2935+175_2935+181delinsATGTGTG (n.2935+175_2935+181delinsATGTGTG) c.3070+175_3070+181delinsATGTGTG (n.3070+175_3070+181delinsATGTGTG) | |
10 | g.104038226_104038227insTA | CA595674025 | COL17A1 | c.2935+180_2935+181insAT (n.2935+180_2935+181insAT) c.3070+180_3070+181insAT (n.3070+180_3070+181insAT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |