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.104053080_104053107delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG | CA1933402971 | COL17A1 | c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA (p.Gly621=) | |
| 10 | g.104053081C>A | CA378070080 | COL17A1 | c.1889G>T (p.Gly630Val) | |
| 10 | g.104053081C= | CA1933402977 | COL17A1 | c.1889G= (p.Gly630=) | |
| 10 | g.104053081C>G | CA5678820 | COL17A1 | c.1889G>C (p.Gly630Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053081C>T | CA378070081 | COL17A1 | c.1889G>A (p.Gly630Glu) | gnomAD v4 |
| 10 | g.104053095_104053121dup | CA2610797659 | COL17A1 | c.1863_1889dup (p.Gly630_Pro631insGlnArgGlyArgGluGlyProMetGly) | gnomAD v4 |
| 10 | g.104053095_104053121del | CA5678819 | COL17A1 | c.1863_1889del (p.Gln622_Gly630del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053082C>A | CA378070082 | COL17A1 | c.1888G>T (p.Gly630Ter) | |
| 10 | g.104053082C>G | CA378070083 | COL17A1 | c.1888G>C (p.Gly630Arg) | |
| 10 | g.104053082C>T | CA378070084 | COL17A1 | c.1888G>A (p.Gly630Arg) | |
| 10 | g.104053083C>A | CA378070085 | COL17A1 | c.1887G>T (p.Met629Ile) | |
| 10 | g.104053083C>G | CA378070087 | COL17A1 | c.1887G>C (p.Met629Ile) | |
| 10 | g.104053083C>T | CA378070086 | COL17A1 | c.1887G>A (p.Met629Ile) | COSMIC |
| 10 | g.104053084A= | CA1933402987 | COL17A1 | c.1886T= (p.Met629=) | |
| 10 | g.104053084A>C | CA378070088 | COL17A1 | c.1886T>G (p.Met629Arg) | |
| 10 | g.104053084A>G | CA378070089 | COL17A1 | c.1886T>C (p.Met629Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053084A>T | CA378070090 | COL17A1 | c.1886T>A (p.Met629Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053085T>A | CA378070091 | COL17A1 | c.1885A>T (p.Met629Leu) | gnomAD v4 |
| 10 | g.104053085T>C | CA5678821 | COL17A1 | c.1885A>G (p.Met629Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053085T>G | CA378070092 | COL17A1 | c.1885A>C (p.Met629Leu) | |
| 10 | g.104053085T= | CA1933402995 | COL17A1 | c.1885A= (p.Met629=) | |
| 10 | g.104053085_104053086delinsTG | CA1933402992 | COL17A1 | c.1884_1885delinsCA (p.Pro628=) | |
| 10 | g.104053086G>A | CA471337332 | COL17A1 | c.1884C>T (p.Pro628=) | |
| 10 | g.104053086G>C | CA471337334 | COL17A1 | c.1884C>G (p.Pro628=) | |
| 10 | g.104053086G= | CA1933403000 | COL17A1 | c.1884C= (p.Pro628=) | |
| 10 | g.104053086G>T | CA5678822 | COL17A1 | c.1884C>A (p.Pro628=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053089dup | CA645568170 | COL17A1 | c.1884dup (p.Met629HisfsTer6) | COSMIC |
| 10 | g.104053089del | CA595683045 | COL17A1 | c.1884del (p.Met629TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053086_104053087insC | CA471337335 | COL17A1 | c.1883_1884insG (p.Met629HisfsTer6) | |
| 10 | g.104053087G>A | CA378070093 | COL17A1 | c.1883C>T (p.Pro628Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053087G>C | CA378070094 | COL17A1 | c.1883C>G (p.Pro628Arg) | gnomAD v4 |
| 10 | g.104053087G= | CA1933403004 | COL17A1 | c.1883C= (p.Pro628=) | |
| 10 | g.104053087G>T | CA378070095 | COL17A1 | c.1883C>A (p.Pro628His) | |
| 10 | g.104053088G>A | CA378070097 | COL17A1 | c.1882C>T (p.Pro628Ser) | |
| 10 | g.104053088G>C | CA378070098 | COL17A1 | c.1882C>G (p.Pro628Ala) | |
| 10 | g.104053088G>T | CA378070096 | COL17A1 | c.1882C>A (p.Pro628Thr) | |
| 10 | g.104053089G>A | CA471337337 | COL17A1 | c.1881C>T (p.Gly627=) | ClinVar gnomAD v4 |
| 10 | g.104053089G>C | CA471337338 | COL17A1 | c.1881C>G (p.Gly627=) | |
| 10 | g.104053089G= | CA1933403007 | COL17A1 | c.1881C= (p.Gly627=) | |
| 10 | g.104053089G>T | CA471337339 | COL17A1 | c.1881C>A (p.Gly627=) | ClinVar dbSNP |
| 10 | g.104053090C>A | CA378070099 | COL17A1 | c.1880G>T (p.Gly627Val) | gnomAD v4 |
| 10 | g.104053090C= | CA1933403014 | COL17A1 | c.1880G= (p.Gly627=) | |
| 10 | g.104053090C>G | CA378070100 | COL17A1 | c.1880G>C (p.Gly627Ala) | |
| 10 | g.104053090C>T | CA378070101 | COL17A1 | c.1880G>A (p.Gly627Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053091del | CA2573145529 | COL17A1 | c.1880del (p.Gly627AlafsTer?) | ClinVar dbSNP |
| 10 | g.104053091C>A | CA378070102 | COL17A1 | c.1879G>T (p.Gly627Cys) | |
| 10 | g.104053091C>G | CA378070103 | COL17A1 | c.1879G>C (p.Gly627Arg) | |
| 10 | g.104053091C>T | CA378070104 | COL17A1 | c.1879G>A (p.Gly627Ser) | |
| 10 | g.104053092T>A | CA378070106 | COL17A1 | c.1878A>T (p.Glu626Asp) | |
| 10 | g.104053092T>C | CA471337341 | COL17A1 | c.1878A>G (p.Glu626=) | |
| 10 | g.104053092T>G | CA378070105 | COL17A1 | c.1878A>C (p.Glu626Asp) | |
| 10 | g.104053093T>A | CA378070107 | COL17A1 | c.1877A>T (p.Glu626Val) | |
| 10 | g.104053093T>C | CA378070108 | COL17A1 | c.1877A>G (p.Glu626Gly) | |
| 10 | g.104053093T>G | CA378070109 | COL17A1 | c.1877A>C (p.Glu626Ala) | |
| 10 | g.104053094C>A | CA378070110 | COL17A1 | c.1876G>T (p.Glu626Ter) | |
| 10 | g.104053094C= | CA1933403017 | COL17A1 | c.1876G= (p.Glu626=) | |
| 10 | g.104053094C>G | CA378070111 | COL17A1 | c.1876G>C (p.Glu626Gln) | |
| 10 | g.104053094C>T | CA5678823 | COL17A1 | c.1876G>A (p.Glu626Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053095T>A | CA471337345 | COL17A1 | c.1875A>T (p.Arg625=) | |
| 10 | g.104053095T>C | CA471337344 | COL17A1 | c.1875A>G (p.Arg625=) | |
| 10 | g.104053095T>G | CA471337343 | COL17A1 | c.1875A>C (p.Arg625=) | |
| 10 | g.104053096C>A | CA5678825 | COL17A1 | c.1874G>T (p.Arg625Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053096C= | CA1933403021 | COL17A1 | c.1874G= (p.Arg625=) | |
| 10 | g.104053096C>G | CA378070112 | COL17A1 | c.1874G>C (p.Arg625Pro) | |
| 10 | g.104053096C>T | CA5678824 | COL17A1 | c.1874G>A (p.Arg625Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053097G>A | CA5678826 | COL17A1 | c.1873C>T (p.Arg625Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104053097G>C | CA378070113 | COL17A1 | c.1873C>G (p.Arg625Gly) | |
| 10 | g.104053097G= | CA1933403026 | COL17A1 | c.1873C= (p.Arg625=) | |
| 10 | g.104053097G>T | CA471337349 | COL17A1 | c.1873C>A (p.Arg625=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053098C>A | CA471337350 | COL17A1 | c.1872G>T (p.Gly624=) | ClinVar dbSNP |
| 10 | g.104053098C= | CA1933403030 | COL17A1 | c.1872G= (p.Gly624=) | |
| 10 | g.104053098C>G | CA471337351 | COL17A1 | c.1872G>C (p.Gly624=) | |
| 10 | g.104053098C>T | CA471337352 | COL17A1 | c.1872G>A (p.Gly624=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053099C>A | CA378070114 | COL17A1 | c.1871G>T (p.Gly624Val) | |
| 10 | g.104053099C>G | CA378070115 | COL17A1 | c.1871G>C (p.Gly624Ala) | |
| 10 | g.104053099C>T | CA378070116 | COL17A1 | c.1871G>A (p.Gly624Glu) | |
| 10 | g.104053100C>A | CA378070117 | COL17A1 | c.1870G>T (p.Gly624Trp) | |
| 10 | g.104053100C>G | CA378070118 | COL17A1 | c.1870G>C (p.Gly624Arg) | |
| 10 | g.104053100C>T | CA378070119 | COL17A1 | c.1870G>A (p.Gly624Arg) | |
| 10 | g.104053101T>A | CA378070120 | COL17A1 | c.1869A>T (p.Arg623Ser) | |
| 10 | g.104053101T>C | CA471337354 | COL17A1 | c.1869A>G (p.Arg623=) | |
| 10 | g.104053101T>G | CA378070121 | COL17A1 | c.1869A>C (p.Arg623Ser) | |
| 10 | g.104053102C>A | CA378070122 | COL17A1 | c.1868G>T (p.Arg623Ile) | |
| 10 | g.104053102C>G | CA378070123 | COL17A1 | c.1868G>C (p.Arg623Thr) | |
| 10 | g.104053102C>T | CA378070124 | COL17A1 | c.1868G>A (p.Arg623Lys) | |
| 10 | g.104053103T>A | CA378070125 | COL17A1 | c.1867A>T (p.Arg623Ter) | |
| 10 | g.104053103T>C | CA5678827 | COL17A1 | c.1867A>G (p.Arg623Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053103T>G | CA471337356 | COL17A1 | c.1867A>C (p.Arg623=) | |
| 10 | g.104053103T= | CA1933403036 | COL17A1 | c.1867A= (p.Arg623=) | |
| 10 | g.104053104C>A | CA378070126 | COL17A1 | c.1866G>T (p.Gln622His) | |
| 10 | g.104053104C>G | CA378070127 | COL17A1 | c.1866G>C (p.Gln622His) | |
| 10 | g.104053104C>T | CA471337357 | COL17A1 | c.1866G>A (p.Gln622=) | |
| 10 | g.104053105T>A | CA378070128 | COL17A1 | c.1865A>T (p.Gln622Leu) | |
| 10 | g.104053105T>C | CA378070129 | COL17A1 | c.1865A>G (p.Gln622Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053105T>G | CA378070130 | COL17A1 | c.1865A>C (p.Gln622Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053105T= | CA1933403040 | COL17A1 | c.1865A= (p.Gln622=) | |
| 10 | g.104053106G>A | CA378070133 | COL17A1 | c.1864C>T (p.Gln622Ter) | |
| 10 | g.104053106G>C | CA378070132 | COL17A1 | c.1864C>G (p.Gln622Glu) | |
| 10 | g.104053106G>T | CA378070131 | COL17A1 | c.1864C>A (p.Gln622Lys) | |
| 10 | g.104053107G>A | CA471337358 | COL17A1 | c.1863C>T (p.Gly621=) | dbSNP |
| 10 | g.104053107G>C | CA471337360 | COL17A1 | c.1863C>G (p.Gly621=) | ClinVar |
| 10 | g.104053107G= | CA1933403042 | COL17A1 | c.1863C= (p.Gly621=) | |
| 10 | g.104053107G>T | CA471337359 | COL17A1 | c.1863C>A (p.Gly621=) | |
| 10 | g.104053108C>A | CA378070134 | COL17A1 | c.1862G>T (p.Gly621Val) | gnomAD v4 |
| 10 | g.104053108C>G | CA378070135 | COL17A1 | c.1862G>C (p.Gly621Ala) | |
| 10 | g.104053108C>T | CA378070136 | COL17A1 | c.1862G>A (p.Gly621Asp) | |
| 10 | g.104053110del | CA2610797673 | COL17A1 | c.1862del (p.Gly621AlafsTer?) | gnomAD v4 |
| 10 | g.104053109C>A | CA378070137 | COL17A1 | c.1861G>T (p.Gly621Cys) | |
| 10 | g.104053109C>G | CA378070138 | COL17A1 | c.1861G>C (p.Gly621Arg) | |
| 10 | g.104053109C>T | CA378070139 | COL17A1 | c.1861G>A (p.Gly621Ser) | ClinVar gnomAD v4 |
| 10 | g.104053110C>A | CA378070142 | COL17A1 | c.1860G>T (p.Met620Ile) c.1812G>T (p.Met604Ile) | COSMIC |
| 10 | g.104053110C>G | CA378070140 | COL17A1 | c.1860G>C (p.Met620Ile) c.1812G>C (p.Met604Ile) | |
| 10 | g.104053110C>T | CA378070141 | COL17A1 | c.1860G>A (p.Met620Ile) c.1812G>A (p.Met604Ile) | |
| 10 | g.104053111A= | CA1933403047 | COL17A1 | c.1859T= (p.Met620=) c.1811T= (p.Met604=) | |
| 10 | g.104053111A>C | CA212417390 | COL17A1 | c.1859T>G (p.Met620Arg) c.1811T>G (p.Met604Arg) | dbSNP gnomAD v4 |
| 10 | g.104053111A>G | CA378070143 | COL17A1 | c.1859T>C (p.Met620Thr) c.1811T>C (p.Met604Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053111A>T | CA378070144 | COL17A1 | c.1859T>A (p.Met620Lys) c.1811T>A (p.Met604Lys) | |
| 10 | g.104053112T>A | CA378070145 | COL17A1 | c.1858A>T (p.Met620Leu) c.1810A>T (p.Met604Leu) | |
| 10 | g.104053112T>C | CA378070146 | COL17A1 | c.1858A>G (p.Met620Val) c.1810A>G (p.Met604Val) | |
| 10 | g.104053112T>G | CA378070147 | COL17A1 | c.1858A>C (p.Met620Leu) c.1810A>C (p.Met604Leu) | |
| 10 | g.104053113G>A | CA471337361 | COL17A1 | c.1857C>T (p.Pro619=) c.1809C>T (p.Pro603=) | |
| 10 | g.104053113G>C | CA471337362 | COL17A1 | c.1857C>G (p.Pro619=) c.1809C>G (p.Pro603=) | |
| 10 | g.104053113G>T | CA471337363 | COL17A1 | c.1857C>A (p.Pro619=) c.1809C>A (p.Pro603=) | |
| 10 | g.104053114G>A | CA378070148 | COL17A1 | c.1856C>T (p.Pro619Leu) c.1808C>T (p.Pro603Leu) | gnomAD v4 |
| 10 | g.104053114G>C | CA378070149 | COL17A1 | c.1856C>G (p.Pro619Arg) c.1808C>G (p.Pro603Arg) | |
| 10 | g.104053114G= | CA1933403052 | COL17A1 | c.1856C= (p.Pro619=) c.1808C= (p.Pro603=) | |
| 10 | g.104053114G>T | CA378070150 | COL17A1 | c.1856C>A (p.Pro619His) c.1808C>A (p.Pro603His) | dbSNP |
| 10 | g.104053115G>A | CA378070151 | COL17A1 | c.1855C>T (p.Pro619Ser) c.1807C>T (p.Pro603Ser) | gnomAD v4 |
| 10 | g.104053115G>C | CA378070152 | COL17A1 | c.1855C>G (p.Pro619Ala) c.1807C>G (p.Pro603Ala) | |
| 10 | g.104053115G>T | CA378070153 | COL17A1 | c.1855C>A (p.Pro619Thr) c.1807C>A (p.Pro603Thr) | |
| 10 | g.104053116G>A | CA5678828 | COL17A1 | c.1854C>T (p.Gly618=) c.1806C>T (p.Gly602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053116G>C | CA471337364 | COL17A1 | c.1854C>G (p.Gly618=) c.1806C>G (p.Gly602=) | gnomAD v4 |
| 10 | g.104053116G= | CA1933403057 | COL17A1 | c.1854C= (p.Gly618=) c.1806C= (p.Gly602=) | |
| 10 | g.104053116G>T | CA471337365 | COL17A1 | c.1854C>A (p.Gly618=) c.1806C>A (p.Gly602=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053117C>A | CA378070155 | COL17A1 | c.1853G>T (p.Gly618Val) c.1805G>T (p.Gly602Val) | gnomAD v4 |
| 10 | g.104053117C= | CA1933403064 | COL17A1 | c.1853G= (p.Gly618=) c.1805G= (p.Gly602=) | |
| 10 | g.104053117C>G | CA5678829 | COL17A1 | c.1853G>C (p.Gly618Ala) c.1805G>C (p.Gly602Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053117C>T | CA378070154 | COL17A1 | c.1853G>A (p.Gly618Asp) c.1805G>A (p.Gly602Asp) | |
| 10 | g.104053118C>A | CA378070156 | COL17A1 | c.1852G>T (p.Gly618Cys) c.1804G>T (p.Gly602Cys) | |
| 10 | g.104053118C>G | CA378070157 | COL17A1 | c.1852G>C (p.Gly618Arg) c.1804G>C (p.Gly602Arg) | |
| 10 | g.104053118C>T | CA378070158 | COL17A1 | c.1852G>A (p.Gly618Ser) c.1804G>A (p.Gly602Ser) | gnomAD v4 |
| 10 | g.104053119T>A | CA378070159 | COL17A1 | c.1851A>T (p.Glu617Asp) c.1803A>T (p.Glu601Asp) | |
| 10 | g.104053119T>C | CA471337366 | COL17A1 | c.1851A>G (p.Glu617=) c.1803A>G (p.Glu601=) | |
| 10 | g.104053119T>G | CA378070160 | COL17A1 | c.1851A>C (p.Glu617Asp) c.1803A>C (p.Glu601Asp) | |
| 10 | g.104053120T>A | CA378070163 | COL17A1 | c.1850A>T (p.Glu617Val) c.1802A>T (p.Glu601Val) | |
| 10 | g.104053120T>C | CA378070162 | COL17A1 | c.1850A>G (p.Glu617Gly) c.1802A>G (p.Glu601Gly) | |
| 10 | g.104053120T>G | CA378070161 | COL17A1 | c.1850A>C (p.Glu617Ala) c.1802A>C (p.Glu601Ala) | |
| 10 | g.104053121C>A | CA378070164 | COL17A1 | c.1849G>T (p.Glu617Ter) c.1801G>T (p.Glu601Ter) | |
| 10 | g.104053121C>G | CA378070165 | COL17A1 | c.1849G>C (p.Glu617Gln) c.1801G>C (p.Glu601Gln) | |
| 10 | g.104053121C>T | CA378070166 | COL17A1 | c.1849G>A (p.Glu617Lys) c.1801G>A (p.Glu601Lys) | |
| 10 | g.104053122C>A | CA378070167 | COL17A1 | c.1848G>T (p.Met616Ile) c.1800G>T (p.Met600Ile) | |
| 10 | g.104053122C= | CA1933403068 | COL17A1 | c.1848G= (p.Met616=) c.1800G= (p.Met600=) | |
| 10 | g.104053122C>G | CA378070168 | COL17A1 | c.1848G>C (p.Met616Ile) c.1800G>C (p.Met600Ile) | |
| 10 | g.104053122C>T | CA5678830 | COL17A1 | c.1848G>A (p.Met616Ile) c.1800G>A (p.Met600Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053123A>C | CA378070171 | COL17A1 | c.1847T>G (p.Met616Arg) c.1799T>G (p.Met600Arg) | |
| 10 | g.104053123A>G | CA378070169 | COL17A1 | c.1847T>C (p.Met616Thr) c.1799T>C (p.Met600Thr) | |
| 10 | g.104053123A>T | CA378070170 | COL17A1 | c.1847T>A (p.Met616Lys) c.1799T>A (p.Met600Lys) | |
| 10 | g.104053124T>A | CA378070172 | COL17A1 | c.1846A>T (p.Met616Leu) c.1798A>T (p.Met600Leu) | |
| 10 | g.104053124T>C | CA5678831 | COL17A1 | c.1846A>G (p.Met616Val) c.1798A>G (p.Met600Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053124T>G | CA378070173 | COL17A1 | c.1846A>C (p.Met616Leu) c.1798A>C (p.Met600Leu) | |
| 10 | g.104053124T= | CA1933403071 | COL17A1 | c.1846A= (p.Met616=) c.1798A= (p.Met600=) | |
| 10 | g.104053125G>A | CA471337367 | COL17A1 | c.1845C>T (p.Gly615=) c.1797C>T (p.Gly599=) | |
| 10 | g.104053125G>C | CA471337368 | COL17A1 | c.1845C>G (p.Gly615=) c.1797C>G (p.Gly599=) | |
| 10 | g.104053125G>T | CA471337369 | COL17A1 | c.1845C>A (p.Gly615=) c.1797C>A (p.Gly599=) | gnomAD v4 |
| 10 | g.104053126C>A | CA378070174 | COL17A1 | c.1844G>T (p.Gly615Val) c.1796G>T (p.Gly599Val) | gnomAD v4 |
| 10 | g.104053126C= | CA1933403072 | COL17A1 | c.1844G= (p.Gly615=) c.1796G= (p.Gly599=) | |
| 10 | g.104053126C>G | CA378070175 | COL17A1 | c.1844G>C (p.Gly615Ala) c.1796G>C (p.Gly599Ala) | |
| 10 | g.104053126C>T | CA378070176 | COL17A1 | c.1844G>A (p.Gly615Asp) c.1796G>A (p.Gly599Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053127C>A | CA378070177 | COL17A1 | c.1843G>T (p.Gly615Cys) c.1795G>T (p.Gly599Cys) | |
| 10 | g.104053127C>G | CA378070178 | COL17A1 | c.1843G>C (p.Gly615Arg) c.1795G>C (p.Gly599Arg) | |
| 10 | g.104053127C>T | CA378070179 | COL17A1 | c.1843G>A (p.Gly615Ser) c.1795G>A (p.Gly599Ser) | |
| 10 | g.104053128A>C | CA471337370 | COL17A1 | c.1842T>G (p.Pro614=) c.1794T>G (p.Pro598=) | |
| 10 | g.104053128A>G | CA471337371 | COL17A1 | c.1842T>C (p.Pro614=) c.1794T>C (p.Pro598=) | |
| 10 | g.104053128A>T | CA471337372 | COL17A1 | c.1842T>A (p.Pro614=) c.1794T>A (p.Pro598=) | |
| 10 | g.104053129G>A | CA378070180 | COL17A1 | c.1841C>T (p.Pro614Leu) c.1793C>T (p.Pro598Leu) | |
| 10 | g.104053129G>C | CA378070181 | COL17A1 | c.1841C>G (p.Pro614Arg) c.1793C>G (p.Pro598Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053129G= | CA1933403075 | COL17A1 | c.1841C= (p.Pro614=) c.1793C= (p.Pro598=) | |
| 10 | g.104053129G>T | CA378070182 | COL17A1 | c.1841C>A (p.Pro614His) c.1793C>A (p.Pro598His) | |
| 10 | g.104053130G>A | CA378070183 | COL17A1 | c.1840C>T (p.Pro614Ser) c.1792C>T (p.Pro598Ser) | |
| 10 | g.104053130G>C | CA378070185 | COL17A1 | c.1840C>G (p.Pro614Ala) c.1792C>G (p.Pro598Ala) | gnomAD v4 |
| 10 | g.104053130G>T | CA378070184 | COL17A1 | c.1840C>A (p.Pro614Thr) c.1792C>A (p.Pro598Thr) | |
| 10 | g.104053131A= | CA1933403079 | COL17A1 | c.1839T= (p.Asp613=) c.1791T= (p.Asp597=) | |
| 10 | g.104053131A>C | CA378070186 | COL17A1 | c.1839T>G (p.Asp613Glu) c.1791T>G (p.Asp597Glu) | |
| 10 | g.104053131A>G | CA5678832 | COL17A1 | c.1839T>C (p.Asp613=) c.1791T>C (p.Asp597=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053131A>T | CA378070187 | COL17A1 | c.1839T>A (p.Asp613Glu) c.1791T>A (p.Asp597Glu) | |
| 10 | g.104053132T>A | CA378070188 | COL17A1 | c.1838A>T (p.Asp613Val) c.1790A>T (p.Asp597Val) | |
| 10 | g.104053132T>C | CA378070190 | COL17A1 | c.1838A>G (p.Asp613Gly) c.1790A>G (p.Asp597Gly) | |
| 10 | g.104053132T>G | CA378070189 | COL17A1 | c.1838A>C (p.Asp613Ala) c.1790A>C (p.Asp597Ala) | |
| 10 | g.104053133C>A | CA378070191 | COL17A1 | c.1837G>T (p.Asp613Tyr) c.1789G>T (p.Asp597Tyr) | COSMIC |
| 10 | g.104053133C>G | CA378070192 | COL17A1 | c.1837G>C (p.Asp613His) c.1789G>C (p.Asp597His) | |
| 10 | g.104053133C>T | CA378070193 | COL17A1 | c.1837G>A (p.Asp613Asn) c.1789G>A (p.Asp597Asn) | |
| 10 | g.104053134T>A | CA471337373 | COL17A1 | c.1836A>T (p.Gly612=) c.1788A>T (p.Gly596=) | |
| 10 | g.104053134T>C | CA471337374 | COL17A1 | c.1836A>G (p.Gly612=) c.1788A>G (p.Gly596=) | |
| 10 | g.104053134T>G | CA471337375 | COL17A1 | c.1836A>C (p.Gly612=) c.1788A>C (p.Gly596=) | |
| 10 | g.104053135C>A | CA378070194 | COL17A1 | c.1835G>T (p.Gly612Val) c.1787G>T (p.Gly596Val) | |
| 10 | g.104053135C>G | CA378070195 | COL17A1 | c.1835G>C (p.Gly612Ala) c.1787G>C (p.Gly596Ala) | |
| 10 | g.104053135C>T | CA378070197 | COL17A1 | c.1835G>A (p.Gly612Glu) c.1787G>A (p.Gly596Glu) | gnomAD v4 |
| 10 | g.104053136C>A | CA378070199 | COL17A1 | c.1835-1G>T (n.1835-1G>T) c.1787-1G>T (n.1787-1G>T) | |
| 10 | g.104053136C>G | CA378070201 | COL17A1 | c.1835-1G>C (n.1835-1G>C) c.1787-1G>C (n.1787-1G>C) | |
| 10 | g.104053136C>T | CA378070202 | COL17A1 | c.1835-1G>A (n.1835-1G>A) c.1787-1G>A (n.1787-1G>A) | COSMIC |
| 10 | g.104053137T>A | CA212417419 | COL17A1 | c.1835-2A>T (n.1835-2A>T) c.1787-2A>T (n.1787-2A>T) | dbSNP |
| 10 | g.104053137T>C | CA212417424 | COL17A1 | c.1835-2A>G (n.1835-2A>G) c.1787-2A>G (n.1787-2A>G) | dbSNP |
| 10 | g.104053137T>G | CA378070207 | COL17A1 | c.1835-2A>C (n.1835-2A>C) c.1787-2A>C (n.1787-2A>C) | |
| 10 | g.104053137T= | CA1933403086 | COL17A1 | c.1835-2A= (n.1835-2A=) c.1787-2A= (n.1787-2A=) | |
| 10 | g.104053143C= | CA1933403090 | COL17A1 | c.1835-8G= (n.1835-8G=) c.1787-8G= (n.1787-8G=) | |
| 10 | g.104053143C>G | CA595683046 | COL17A1 | c.1835-8G>C (n.1835-8G>C) c.1787-8G>C (n.1787-8G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053143C>T | CA2610797702 | COL17A1 | c.1835-8G>A (n.1835-8G>A) c.1787-8G>A (n.1787-8G>A) | gnomAD v4 |
| 10 | g.104053146G>A | CA2574692551 | COL17A1 | c.1835-11C>T (n.1835-11C>T) c.1787-11C>T (n.1787-11C>T) | |
| 10 | g.104053146G>C | CA5678833 | COL17A1 | c.1835-11C>G (n.1835-11C>G) c.1787-11C>G (n.1787-11C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053146G= | CA1933403091 | COL17A1 | c.1835-11C= (n.1835-11C=) c.1787-11C= (n.1787-11C=) | |
| 10 | g.104053146G>T | CA2610797704 | COL17A1 | c.1835-11C>A (n.1835-11C>A) c.1787-11C>A (n.1787-11C>A) | gnomAD v4 |
| 10 | g.104053147G>A | CA5678834 | COL17A1 | c.1835-12C>T (n.1835-12C>T) c.1787-12C>T (n.1787-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053147G>C | CA2610797709 | COL17A1 | c.1835-12C>G (n.1835-12C>G) c.1787-12C>G (n.1787-12C>G) | gnomAD v4 |
| 10 | g.104053147G= | CA1933403093 | COL17A1 | c.1835-12C= (n.1835-12C=) c.1787-12C= (n.1787-12C=) | |
| 10 | g.104053147G>T | CA2610797712 | COL17A1 | c.1835-12C>A (n.1835-12C>A) c.1787-12C>A (n.1787-12C>A) | gnomAD v4 |
| 10 | g.104053148A= | CA1933403101 | COL17A1 | c.1835-13T= (n.1835-13T=) c.1787-13T= (n.1787-13T=) | |
| 10 | g.104053148A>T | CA1933403104 | COL17A1 | c.1835-13T>A (n.1835-13T>A) c.1787-13T>A (n.1787-13T>A) | dbSNP gnomAD v4 |
| 10 | g.104053149T>C | CA5678835 | COL17A1 | c.1835-14A>G (n.1835-14A>G) c.1787-14A>G (n.1787-14A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 10 | g.104053149T= | CA1933403107 | COL17A1 | c.1835-14A= (n.1835-14A=) c.1787-14A= (n.1787-14A=) | |
| 10 | g.104053150G>A | CA2574692552 | COL17A1 | c.1835-15C>T (n.1835-15C>T) c.1787-15C>T (n.1787-15C>T) | ClinVar |
| 10 | g.104053150G>T | CA2610797717 | COL17A1 | c.1835-15C>A (n.1835-15C>A) c.1787-15C>A (n.1787-15C>A) | gnomAD v4 |
| 10 | g.104053151G>A | CA2610797721 | COL17A1 | c.1835-16C>T (n.1835-16C>T) c.1787-16C>T (n.1787-16C>T) | gnomAD v4 |
| 10 | g.104053151G>T | CA2610797719 | COL17A1 | c.1835-16C>A (n.1835-16C>A) c.1787-16C>A (n.1787-16C>A) | gnomAD v4 |
| 10 | g.104053152C>A | CA2610797723 | COL17A1 | c.1835-17G>T (n.1835-17G>T) c.1787-17G>T (n.1787-17G>T) | gnomAD v4 |
| 10 | g.104053152C= | CA1933403109 | COL17A1 | c.1835-17G= (n.1835-17G=) c.1787-17G= (n.1787-17G=) | |
| 10 | g.104053152C>T | CA595683047 | COL17A1 | c.1835-17G>A (n.1835-17G>A) c.1787-17G>A (n.1787-17G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053153C>A | CA2557935979 | COL17A1 | c.1835-18G>T (n.1835-18G>T) c.1787-18G>T (n.1787-18G>T) | |
| 10 | g.104053153C= | CA1933403113 | COL17A1 | c.1835-18G= (n.1835-18G=) c.1787-18G= (n.1787-18G=) | |
| 10 | g.104053153C>T | CA5678836 | COL17A1 | c.1835-18G>A (n.1835-18G>A) c.1787-18G>A (n.1787-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053155G>C | CA2610797727 | COL17A1 | c.1835-20C>G (n.1835-20C>G) c.1787-20C>G (n.1787-20C>G) | ClinVar gnomAD v4 |
| 10 | g.104053155G= | CA1933403116 | COL17A1 | c.1835-20C= (n.1835-20C=) c.1787-20C= (n.1787-20C=) | |
| 10 | g.104053155G>T | CA1933403117 | COL17A1 | c.1835-20C>A (n.1835-20C>A) c.1787-20C>A (n.1787-20C>A) | dbSNP gnomAD v4 |
| 10 | g.104053156C>A | CA5678837 | COL17A1 | c.1835-21G>T (n.1835-21G>T) c.1787-21G>T (n.1787-21G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053156C= | CA1933403119 | COL17A1 | c.1835-21G= (n.1835-21G=) c.1787-21G= (n.1787-21G=) | |
| 10 | g.104053157C>A | CA2574692553 | COL17A1 | c.1835-22G>T (n.1835-22G>T) c.1787-22G>T (n.1787-22G>T) | |
| 10 | g.104053157C= | CA1933403122 | COL17A1 | c.1835-22G= (n.1835-22G=) c.1787-22G= (n.1787-22G=) | |
| 10 | g.104053157C>G | CA212417452 | COL17A1 | c.1835-22G>C (n.1835-22G>C) c.1787-22G>C (n.1787-22G>C) | dbSNP |
| 10 | g.104053157C>T | CA5678838 | COL17A1 | c.1835-22G>A (n.1835-22G>A) c.1787-22G>A (n.1787-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053159C= | CA1933403125 | COL17A1 | c.1835-24G= (n.1835-24G=) c.1787-24G= (n.1787-24G=) | |
| 10 | g.104053159C>G | CA212417456 | COL17A1 | c.1835-24G>C (n.1835-24G>C) c.1787-24G>C (n.1787-24G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053160C>T | CA2610797740 | COL17A1 | c.1835-25G>A (n.1835-25G>A) c.1787-25G>A (n.1787-25G>A) | gnomAD v4 |
| 10 | g.104053161A>G | CA2574692554 | COL17A1 | c.1835-26T>C (n.1835-26T>C) c.1787-26T>C (n.1787-26T>C) | gnomAD v4 |
| 10 | g.104053163G>A | CA5678839 | COL17A1 | c.1835-28C>T (n.1835-28C>T) c.1787-28C>T (n.1787-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053163G= | CA1933403127 | COL17A1 | c.1835-28C= (n.1835-28C=) c.1787-28C= (n.1787-28C=) | |
| 10 | g.104053165C>A | CA2610797741 | COL17A1 | c.1835-30G>T (n.1835-30G>T) c.1787-30G>T (n.1787-30G>T) | gnomAD v4 |
| 10 | g.104053165C>T | CA2610797742 | COL17A1 | c.1835-30G>A (n.1835-30G>A) c.1787-30G>A (n.1787-30G>A) | dbSNP gnomAD v4 |
| 10 | g.104053168G>T | CA2610797743 | COL17A1 | c.1835-33C>A (n.1835-33C>A) c.1787-33C>A (n.1787-33C>A) | gnomAD v4 |
| 10 | g.104053169A= | CA1933403130 | COL17A1 | c.1835-34T= (n.1835-34T=) c.1787-34T= (n.1787-34T=) | |
| 10 | g.104053169A>G | CA595683048 | COL17A1 | c.1835-34T>C (n.1835-34T>C) c.1787-34T>C (n.1787-34T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053170T>A | CA5678840 | COL17A1 | c.1835-35A>T (n.1835-35A>T) c.1787-35A>T (n.1787-35A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053170T= | CA1933403134 | COL17A1 | c.1835-35A= (n.1835-35A=) c.1787-35A= (n.1787-35A=) | |
| 10 | g.104053171C>A | CA2610797749 | COL17A1 | c.1835-36G>T (n.1835-36G>T) c.1787-36G>T (n.1787-36G>T) | gnomAD v4 |
| 10 | g.104053171C= | CA1933403136 | COL17A1 | c.1835-36G= (n.1835-36G=) c.1787-36G= (n.1787-36G=) | |
| 10 | g.104053171C>T | CA5678841 | COL17A1 | c.1835-36G>A (n.1835-36G>A) c.1787-36G>A (n.1787-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053172C>T | CA2610797754 | COL17A1 | c.1835-37G>A (n.1835-37G>A) c.1787-37G>A (n.1787-37G>A) | gnomAD v4 |
| 10 | g.104053173C= | CA1933403138 | COL17A1 | c.1835-38G= (n.1835-38G=) c.1787-38G= (n.1787-38G=) | |
| 10 | g.104053173C>T | CA5678842 | COL17A1 | c.1835-38G>A (n.1835-38G>A) c.1787-38G>A (n.1787-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053174G>A | CA5678843 | COL17A1 | c.1835-39C>T (n.1835-39C>T) c.1787-39C>T (n.1787-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053174G>C | CA2580956458 | COL17A1 | c.1835-39C>G (n.1835-39C>G) c.1787-39C>G (n.1787-39C>G) | |
| 10 | g.104053174G= | CA1933403140 | COL17A1 | c.1835-39C= (n.1835-39C=) c.1787-39C= (n.1787-39C=) | |
| 10 | g.104053174G>T | CA212417493 | COL17A1 | c.1835-39C>A (n.1835-39C>A) c.1787-39C>A (n.1787-39C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053175T>C | CA2610797761 | COL17A1 | c.1835-40A>G (n.1835-40A>G) c.1787-40A>G (n.1787-40A>G) | gnomAD v4 |
| 10 | g.104053176A= | CA1933403153 | COL17A1 | c.1835-41T= (n.1835-41T=) c.1787-41T= (n.1787-41T=) | |
| 10 | g.104053176A>C | CA1933403151 | COL17A1 | c.1835-41T>G (n.1835-41T>G) c.1787-41T>G (n.1787-41T>G) | dbSNP |
| 10 | g.104053177C>A | CA595683049 | COL17A1 | c.1835-42G>T (n.1835-42G>T) c.1787-42G>T (n.1787-42G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053177C= | CA1933403155 | COL17A1 | c.1835-42G= (n.1835-42G=) c.1787-42G= (n.1787-42G=) | |
| 10 | g.104053177C>T | CA932075681 | COL17A1 | c.1835-42G>A (n.1835-42G>A) c.1787-42G>A (n.1787-42G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053180del | CA2610797763 | COL17A1 | c.1835-42del (n.1835-42del) c.1787-42del (n.1787-42del) | gnomAD v4 |
| 10 | g.104053178C= | CA1933403161 | COL17A1 | c.1835-43G= (n.1835-43G=) c.1787-43G= (n.1787-43G=) | |
| 10 | g.104053178C>T | CA5678844 | COL17A1 | c.1835-43G>A (n.1835-43G>A) c.1787-43G>A (n.1787-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104053180C>A | CA2574692555 | COL17A1 | c.1835-45G>T (n.1835-45G>T) c.1787-45G>T (n.1787-45G>T) | |
| 10 | g.104053181A= | CA1933403163 | COL17A1 | c.1835-46T= (n.1835-46T=) c.1787-46T= (n.1787-46T=) | |
| 10 | g.104053181A>G | CA5678845 | COL17A1 | c.1835-46T>C (n.1835-46T>C) c.1787-46T>C (n.1787-46T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |