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.59125858A= | CA1976249528 | FAM111B | c.1761A= (p.Ile587=) c.1671A= (p.Ile557=) | |
| 11 | g.59125858A>C | CA6016363 | FAM111B | c.1761A>C (p.Ile587=) c.1671A>C (p.Ile557=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125858A>G | CA6016364 | FAM111B | c.1761A>G (p.Ile587Met) c.1671A>G (p.Ile557Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125858A>T | CA474819084 | FAM111B | c.1761A>T (p.Ile587=) c.1671A>T (p.Ile557=) | |
| 11 | g.59125859G>A | CA380761976 | FAM111B | c.1762G>A (p.Asp588Asn) c.1672G>A (p.Asp558Asn) | gnomAD v4 |
| 11 | g.59125859G>C | CA380761977 | FAM111B | c.1762G>C (p.Asp588His) c.1672G>C (p.Asp558His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125859G= | CA1976249530 | FAM111B | c.1762G= (p.Asp588=) c.1672G= (p.Asp558=) | |
| 11 | g.59125859G>T | CA380761981 | FAM111B | c.1762G>T (p.Asp588Tyr) c.1672G>T (p.Asp558Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125860A= | CA1976249533 | FAM111B | c.1763A= (p.Asp588=) c.1673A= (p.Asp558=) | |
| 11 | g.59125860A>C | CA380761984 | FAM111B | c.1763A>C (p.Asp588Ala) c.1673A>C (p.Asp558Ala) | |
| 11 | g.59125860A>G | CA6016365 | FAM111B | c.1763A>G (p.Asp588Gly) c.1673A>G (p.Asp558Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125860A>T | CA380761990 | FAM111B | c.1763A>T (p.Asp588Val) c.1673A>T (p.Asp558Val) | |
| 11 | g.59125861T>A | CA380761993 | FAM111B | c.1764T>A (p.Asp588Glu) c.1674T>A (p.Asp558Glu) | |
| 11 | g.59125861T>C | CA474819086 | FAM111B | c.1764T>C (p.Asp588=) c.1674T>C (p.Asp558=) | |
| 11 | g.59125861T>G | CA380761995 | FAM111B | c.1764T>G (p.Asp588Glu) c.1674T>G (p.Asp558Glu) | |
| 11 | g.59125862G>A | CA380762004 | FAM111B | c.1765G>A (p.Gly589Ser) c.1675G>A (p.Gly559Ser) | |
| 11 | g.59125862G>C | CA380762000 | FAM111B | c.1765G>C (p.Gly589Arg) c.1675G>C (p.Gly559Arg) | |
| 11 | g.59125862G>T | CA380762002 | FAM111B | c.1765G>T (p.Gly589Cys) c.1675G>T (p.Gly559Cys) | |
| 11 | g.59125863G>A | CA6016366 | FAM111B | c.1766G>A (p.Gly589Asp) c.1676G>A (p.Gly559Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125863G>C | CA380762009 | FAM111B | c.1766G>C (p.Gly589Ala) c.1676G>C (p.Gly559Ala) | gnomAD v4 |
| 11 | g.59125863G= | CA1976249535 | FAM111B | c.1766G= (p.Gly589=) c.1676G= (p.Gly559=) | |
| 11 | g.59125863G>T | CA380762011 | FAM111B | c.1766G>T (p.Gly589Val) c.1676G>T (p.Gly559Val) | |
| 11 | g.59125864T>A | CA474819088 | FAM111B | c.1767T>A (p.Gly589=) c.1677T>A (p.Gly559=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125864T>C | CA474819089 | FAM111B | c.1767T>C (p.Gly589=) c.1677T>C (p.Gly559=) | |
| 11 | g.59125864T>G | CA474819090 | FAM111B | c.1767T>G (p.Gly589=) c.1677T>G (p.Gly559=) | |
| 11 | g.59125864T= | CA1976249537 | FAM111B | c.1767T= (p.Gly589=) c.1677T= (p.Gly559=) | |
| 11 | g.59125865T>A | CA380762016 | FAM111B | c.1768T>A (p.Cys590Ser) c.1678T>A (p.Cys560Ser) | |
| 11 | g.59125865T>C | CA380762020 | FAM111B | c.1768T>C (p.Cys590Arg) c.1678T>C (p.Cys560Arg) | |
| 11 | g.59125865T>G | CA380762022 | FAM111B | c.1768T>G (p.Cys590Gly) c.1678T>G (p.Cys560Gly) | |
| 11 | g.59125866G>A | CA380762027 | FAM111B | c.1769G>A (p.Cys590Tyr) c.1679G>A (p.Cys560Tyr) | gnomAD v4 |
| 11 | g.59125866G>C | CA380762029 | FAM111B | c.1769G>C (p.Cys590Ser) c.1679G>C (p.Cys560Ser) | |
| 11 | g.59125866G= | CA1976249539 | FAM111B | c.1769G= (p.Cys590=) c.1679G= (p.Cys560=) | |
| 11 | g.59125866G>T | CA380762032 | FAM111B | c.1769G>T (p.Cys590Phe) c.1679G>T (p.Cys560Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125867T>A | CA380762036 | FAM111B | c.1770T>A (p.Cys590Ter) c.1680T>A (p.Cys560Ter) | |
| 11 | g.59125867T>C | CA474819094 | FAM111B | c.1770T>C (p.Cys590=) c.1680T>C (p.Cys560=) | dbSNP gnomAD v4 |
| 11 | g.59125867T>G | CA380762038 | FAM111B | c.1770T>G (p.Cys590Trp) c.1680T>G (p.Cys560Trp) | |
| 11 | g.59125867T= | CA1976249541 | FAM111B | c.1770T= (p.Cys590=) c.1680T= (p.Cys560=) | |
| 11 | g.59125868A>C | CA380762048 | FAM111B | c.1771A>C (p.Thr591Pro) c.1681A>C (p.Thr561Pro) | |
| 11 | g.59125868A>G | CA380762042 | FAM111B | c.1771A>G (p.Thr591Ala) c.1681A>G (p.Thr561Ala) | gnomAD v4 |
| 11 | g.59125868A>T | CA380762046 | FAM111B | c.1771A>T (p.Thr591Ser) c.1681A>T (p.Thr561Ser) | |
| 11 | g.59125869C>A | CA380762053 | FAM111B | c.1772C>A (p.Thr591Asn) c.1682C>A (p.Thr561Asn) | |
| 11 | g.59125869C= | CA1976249543 | FAM111B | c.1772C= (p.Thr591=) c.1682C= (p.Thr561=) | |
| 11 | g.59125869C>G | CA380762057 | FAM111B | c.1772C>G (p.Thr591Ser) c.1682C>G (p.Thr561Ser) | |
| 11 | g.59125869C>T | CA6016367 | FAM111B | c.1772C>T (p.Thr591Ile) c.1682C>T (p.Thr561Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125870T>A | CA474819098 | FAM111B | c.1773T>A (p.Thr591=) c.1683T>A (p.Thr561=) | |
| 11 | g.59125870T>C | CA474819099 | FAM111B | c.1773T>C (p.Thr591=) c.1683T>C (p.Thr561=) | gnomAD v4 |
| 11 | g.59125870T>G | CA474819100 | FAM111B | c.1773T>G (p.Thr591=) c.1683T>G (p.Thr561=) | |
| 11 | g.59125871G>A | CA380762061 | FAM111B | c.1774G>A (p.Val592Met) c.1684G>A (p.Val562Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125871G>C | CA380762064 | FAM111B | c.1774G>C (p.Val592Leu) c.1684G>C (p.Val562Leu) | |
| 11 | g.59125871G= | CA1976249545 | FAM111B | c.1774G= (p.Val592=) c.1684G= (p.Val562=) | |
| 11 | g.59125871G>T | CA380762066 | FAM111B | c.1774G>T (p.Val592Leu) c.1684G>T (p.Val562Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125872T>A | CA380762071 | FAM111B | c.1775T>A (p.Val592Glu) c.1685T>A (p.Val562Glu) | |
| 11 | g.59125872T>C | CA380762073 | FAM111B | c.1775T>C (p.Val592Ala) c.1685T>C (p.Val562Ala) | |
| 11 | g.59125872T>G | CA380762075 | FAM111B | c.1775T>G (p.Val592Gly) c.1685T>G (p.Val562Gly) | |
| 11 | g.59125873G>A | CA6016368 | FAM111B | c.1776G>A (p.Val592=) c.1686G>A (p.Val562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125873G>C | CA474819102 | FAM111B | c.1776G>C (p.Val592=) c.1686G>C (p.Val562=) | |
| 11 | g.59125873G= | CA1976249547 | FAM111B | c.1776G= (p.Val592=) c.1686G= (p.Val562=) | |
| 11 | g.59125873G>T | CA474819103 | FAM111B | c.1776G>T (p.Val592=) c.1686G>T (p.Val562=) | |
| 11 | g.59125874A>C | CA380762081 | FAM111B | c.1777A>C (p.Ile593Leu) c.1687A>C (p.Ile563Leu) | |
| 11 | g.59125874A>G | CA380762084 | FAM111B | c.1777A>G (p.Ile593Val) c.1687A>G (p.Ile563Val) | |
| 11 | g.59125874A>T | CA380762088 | FAM111B | c.1777A>T (p.Ile593Phe) c.1687A>T (p.Ile563Phe) | |
| 11 | g.59125875T>A | CA380762096 | FAM111B | c.1778T>A (p.Ile593Asn) c.1688T>A (p.Ile563Asn) | |
| 11 | g.59125875T>C | CA380762094 | FAM111B | c.1778T>C (p.Ile593Thr) c.1688T>C (p.Ile563Thr) | gnomAD v4 |
| 11 | g.59125875T>G | CA380762091 | FAM111B | c.1778T>G (p.Ile593Ser) c.1688T>G (p.Ile563Ser) | |
| 11 | g.59125876T>A | CA474819105 | FAM111B | c.1779T>A (p.Ile593=) c.1689T>A (p.Ile563=) | |
| 11 | g.59125876T>C | CA474819106 | FAM111B | c.1779T>C (p.Ile593=) c.1689T>C (p.Ile563=) | |
| 11 | g.59125876T>G | CA380762098 | FAM111B | c.1779T>G (p.Ile593Met) c.1689T>G (p.Ile563Met) | |
| 11 | g.59125877C>A | CA380762099 | FAM111B | c.1780C>A (p.Pro594Thr) c.1690C>A (p.Pro564Thr) | gnomAD v4 |
| 11 | g.59125877C= | CA1976249549 | FAM111B | c.1780C= (p.Pro594=) c.1690C= (p.Pro564=) | |
| 11 | g.59125877C>G | CA380762100 | FAM111B | c.1780C>G (p.Pro594Ala) c.1690C>G (p.Pro564Ala) | |
| 11 | g.59125877C>T | CA6016369 | FAM111B | c.1780C>T (p.Pro594Ser) c.1690C>T (p.Pro564Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125878C>A | CA380762102 | FAM111B | c.1781C>A (p.Pro594His) c.1691C>A (p.Pro564His) | |
| 11 | g.59125878C>G | CA380762105 | FAM111B | c.1781C>G (p.Pro594Arg) c.1691C>G (p.Pro564Arg) | |
| 11 | g.59125878C>T | CA380762108 | FAM111B | c.1781C>T (p.Pro594Leu) c.1691C>T (p.Pro564Leu) | gnomAD v4 |
| 11 | g.59125879T>A | CA474819108 | FAM111B | c.1782T>A (p.Pro594=) c.1692T>A (p.Pro564=) | |
| 11 | g.59125879T>C | CA474819109 | FAM111B | c.1782T>C (p.Pro594=) c.1692T>C (p.Pro564=) | |
| 11 | g.59125879T>G | CA474819110 | FAM111B | c.1782T>G (p.Pro594=) c.1692T>G (p.Pro564=) | |
| 11 | g.59125880C>A | CA380762112 | FAM111B | c.1783C>A (p.Leu595Ile) c.1693C>A (p.Leu565Ile) | |
| 11 | g.59125880C>G | CA380762115 | FAM111B | c.1783C>G (p.Leu595Val) c.1693C>G (p.Leu565Val) | |
| 11 | g.59125880C>T | CA474819111 | FAM111B | c.1783C>T (p.Leu595=) c.1693C>T (p.Leu565=) | |
| 11 | g.59125881T>A | CA380762119 | FAM111B | c.1784T>A (p.Leu595Gln) c.1694T>A (p.Leu565Gln) | |
| 11 | g.59125881T>C | CA380762120 | FAM111B | c.1784T>C (p.Leu595Pro) c.1694T>C (p.Leu565Pro) | |
| 11 | g.59125881T>G | CA380762124 | FAM111B | c.1784T>G (p.Leu595Arg) c.1694T>G (p.Leu565Arg) | |
| 11 | g.59125882A>C | CA474819115 | FAM111B | c.1785A>C (p.Leu595=) c.1695A>C (p.Leu565=) | |
| 11 | g.59125882A>G | CA474819116 | FAM111B | c.1785A>G (p.Leu595=) c.1695A>G (p.Leu565=) | |
| 11 | g.59125882A>T | CA474819117 | FAM111B | c.1785A>T (p.Leu595=) c.1695A>T (p.Leu565=) | |
| 11 | g.59125883A>C | CA380762135 | FAM111B | c.1786A>C (p.Asn596His) c.1696A>C (p.Asn566His) | |
| 11 | g.59125883A>G | CA380762131 | FAM111B | c.1786A>G (p.Asn596Asp) c.1696A>G (p.Asn566Asp) | |
| 11 | g.59125883A>T | CA380762128 | FAM111B | c.1786A>T (p.Asn596Tyr) c.1696A>T (p.Asn566Tyr) | |
| 11 | g.59125884A>C | CA380762145 | FAM111B | c.1787A>C (p.Asn596Thr) c.1697A>C (p.Asn566Thr) | |
| 11 | g.59125884A>G | CA380762139 | FAM111B | c.1787A>G (p.Asn596Ser) c.1697A>G (p.Asn566Ser) | |
| 11 | g.59125884A>T | CA380762142 | FAM111B | c.1787A>T (p.Asn596Ile) c.1697A>T (p.Asn566Ile) | |
| 11 | g.59125885C>A | CA380762151 | FAM111B | c.1788C>A (p.Asn596Lys) c.1698C>A (p.Asn566Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125885C= | CA1976249551 | FAM111B | c.1788C= (p.Asn596=) c.1698C= (p.Asn566=) | |
| 11 | g.59125885C>G | CA6016371 | FAM111B | c.1788C>G (p.Asn596Lys) c.1698C>G (p.Asn566Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125885C>T | CA6016370 | FAM111B | c.1788C>T (p.Asn596=) c.1698C>T (p.Asn566=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125886G>A | CA6016372 | FAM111B | c.1789G>A (p.Glu597Lys) c.1699G>A (p.Glu567Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.59125886G>C | CA380762161 | FAM111B | c.1789G>C (p.Glu597Gln) c.1699G>C (p.Glu567Gln) | |
| 11 | g.59125886G= | CA1976249555 | FAM111B | c.1789G= (p.Glu597=) c.1699G= (p.Glu567=) | |
| 11 | g.59125886G>T | CA380762164 | FAM111B | c.1789G>T (p.Glu597Ter) c.1699G>T (p.Glu567Ter) | gnomAD v4 |
| 11 | g.59125887A= | CA1976249557 | FAM111B | c.1790A= (p.Glu597=) c.1700A= (p.Glu567=) | |
| 11 | g.59125887A>C | CA380762169 | FAM111B | c.1790A>C (p.Glu597Ala) c.1700A>C (p.Glu567Ala) | |
| 11 | g.59125887A>G | CA380762172 | FAM111B | c.1790A>G (p.Glu597Gly) c.1700A>G (p.Glu567Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125887A>T | CA380762174 | FAM111B | c.1790A>T (p.Glu597Val) c.1700A>T (p.Glu567Val) | |
| 11 | g.59125888A>C | CA380762178 | FAM111B | c.1791A>C (p.Glu597Asp) c.1701A>C (p.Glu567Asp) | |
| 11 | g.59125888A>G | CA474819121 | FAM111B | c.1791A>G (p.Glu597=) c.1701A>G (p.Glu567=) | gnomAD v4 |
| 11 | g.59125888A>T | CA380762180 | FAM111B | c.1791A>T (p.Glu597Asp) c.1701A>T (p.Glu567Asp) | |
| 11 | g.59125889C>A | CA474819122 | FAM111B | c.1792C>A (p.Arg598=) c.1702C>A (p.Arg568=) | dbSNP gnomAD v4 |
| 11 | g.59125889C= | CA1976249559 | FAM111B | c.1792C= (p.Arg598=) c.1702C= (p.Arg568=) | |
| 11 | g.59125889C>G | CA380762185 | FAM111B | c.1792C>G (p.Arg598Gly) c.1702C>G (p.Arg568Gly) | gnomAD v4 |
| 11 | g.59125889C>T | CA6016373 | FAM111B | c.1792C>T (p.Arg598Ter) c.1702C>T (p.Arg568Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125890G>A | CA6016374 | FAM111B | c.1793G>A (p.Arg598Gln) c.1703G>A (p.Arg568Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125890G>C | CA380762192 | FAM111B | c.1793G>C (p.Arg598Pro) c.1703G>C (p.Arg568Pro) | |
| 11 | g.59125890G= | CA1976249560 | FAM111B | c.1793G= (p.Arg598=) c.1703G= (p.Arg568=) | |
| 11 | g.59125890G>T | CA380762193 | FAM111B | c.1793G>T (p.Arg598Leu) c.1703G>T (p.Arg568Leu) | |
| 11 | g.59125891A>C | CA474819123 | FAM111B | c.1794A>C (p.Arg598=) c.1704A>C (p.Arg568=) | |
| 11 | g.59125891A>G | CA474819124 | FAM111B | c.1794A>G (p.Arg598=) c.1704A>G (p.Arg568=) | |
| 11 | g.59125891A>T | CA474819125 | FAM111B | c.1794A>T (p.Arg598=) c.1704A>T (p.Arg568=) | |
| 11 | g.59125892T>A | CA380762196 | FAM111B | c.1795T>A (p.Leu599Met) c.1705T>A (p.Leu569Met) | |
| 11 | g.59125892T>C | CA474819126 | FAM111B | c.1795T>C (p.Leu599=) c.1705T>C (p.Leu569=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125892T>G | CA380762199 | FAM111B | c.1795T>G (p.Leu599Val) c.1705T>G (p.Leu569Val) | |
| 11 | g.59125892T= | CA1976249562 | FAM111B | c.1795T= (p.Leu599=) c.1705T= (p.Leu569=) | |
| 11 | g.59125893T>A | CA380762204 | FAM111B | c.1796T>A (p.Leu599Ter) c.1706T>A (p.Leu569Ter) | |
| 11 | g.59125893T>C | CA380762206 | FAM111B | c.1796T>C (p.Leu599Ser) c.1706T>C (p.Leu569Ser) | |
| 11 | g.59125893T>G | CA6016375 | FAM111B | c.1796T>G (p.Leu599Trp) c.1706T>G (p.Leu569Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125893T= | CA1976249564 | FAM111B | c.1796T= (p.Leu599=) c.1706T= (p.Leu569=) | |
| 11 | g.59125894G>A | CA474819127 | FAM111B | c.1797G>A (p.Leu599=) c.1707G>A (p.Leu569=) | |
| 11 | g.59125894G>C | CA380762214 | FAM111B | c.1797G>C (p.Leu599Phe) c.1707G>C (p.Leu569Phe) | |
| 11 | g.59125894G>T | CA380762217 | FAM111B | c.1797G>T (p.Leu599Phe) c.1707G>T (p.Leu569Phe) | |
| 11 | g.59125895A>C | CA380762223 | FAM111B | c.1798A>C (p.Lys600Gln) c.1708A>C (p.Lys570Gln) | |
| 11 | g.59125895A>G | CA380762225 | FAM111B | c.1798A>G (p.Lys600Glu) c.1708A>G (p.Lys570Glu) | gnomAD v4 |
| 11 | g.59125895A>T | CA380762227 | FAM111B | c.1798A>T (p.Lys600Ter) c.1708A>T (p.Lys570Ter) | |
| 11 | g.59125900dup | CA2574831591 | FAM111B | c.1803dup (p.Tyr602IlefsTer14) c.1713dup (p.Tyr572IlefsTer14) | gnomAD v4 |
| 11 | g.59125896A>C | CA380762238 | FAM111B | c.1799A>C (p.Lys600Thr) c.1709A>C (p.Lys570Thr) | |
| 11 | g.59125896A>G | CA380762241 | FAM111B | c.1799A>G (p.Lys600Arg) c.1709A>G (p.Lys570Arg) | |
| 11 | g.59125896A>T | CA380762235 | FAM111B | c.1799A>T (p.Lys600Ile) c.1709A>T (p.Lys570Ile) | |
| 11 | g.59125897A>C | CA380762246 | FAM111B | c.1800A>C (p.Lys600Asn) c.1710A>C (p.Lys570Asn) | |
| 11 | g.59125897A>G | CA474819128 | FAM111B | c.1800A>G (p.Lys600=) c.1710A>G (p.Lys570=) | |
| 11 | g.59125897A>T | CA380762249 | FAM111B | c.1800A>T (p.Lys600Asn) c.1710A>T (p.Lys570Asn) | |
| 11 | g.59125898A>C | CA380762253 | FAM111B | c.1801A>C (p.Lys601Gln) c.1711A>C (p.Lys571Gln) | |
| 11 | g.59125898A>G | CA380762261 | FAM111B | c.1801A>G (p.Lys601Glu) c.1711A>G (p.Lys571Glu) | |
| 11 | g.59125898A>T | CA380762257 | FAM111B | c.1801A>T (p.Lys601Ter) c.1711A>T (p.Lys571Ter) | |
| 11 | g.59125899A= | CA1976249565 | FAM111B | c.1802A= (p.Lys601=) c.1712A= (p.Lys571=) | |
| 11 | g.59125899A>C | CA380762266 | FAM111B | c.1802A>C (p.Lys601Thr) c.1712A>C (p.Lys571Thr) | gnomAD v4 |
| 11 | g.59125899A>G | CA380762273 | FAM111B | c.1802A>G (p.Lys601Arg) c.1712A>G (p.Lys571Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125899A>T | CA380762269 | FAM111B | c.1802A>T (p.Lys601Ile) c.1712A>T (p.Lys571Ile) | |
| 11 | g.59125900A= | CA1976249567 | FAM111B | c.1803A= (p.Lys601=) c.1713A= (p.Lys571=) | |
| 11 | g.59125900A>C | CA380762276 | FAM111B | c.1803A>C (p.Lys601Asn) c.1713A>C (p.Lys571Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125900A>G | CA474819129 | FAM111B | c.1803A>G (p.Lys601=) c.1713A>G (p.Lys571=) | |
| 11 | g.59125900A>T | CA380762280 | FAM111B | c.1803A>T (p.Lys601Asn) c.1713A>T (p.Lys571Asn) | |
| 11 | g.59125901T>A | CA380762287 | FAM111B | c.1804T>A (p.Tyr602Asn) c.1714T>A (p.Tyr572Asn) | |
| 11 | g.59125901T>C | CA6016376 | FAM111B | c.1804T>C (p.Tyr602His) c.1714T>C (p.Tyr572His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125901T>G | CA380762294 | FAM111B | c.1804T>G (p.Tyr602Asp) c.1714T>G (p.Tyr572Asp) | |
| 11 | g.59125901T= | CA1976249569 | FAM111B | c.1804T= (p.Tyr602=) c.1714T= (p.Tyr572=) | |
| 11 | g.59125902A= | CA1976249570 | FAM111B | c.1805A= (p.Tyr602=) c.1715A= (p.Tyr572=) | |
| 11 | g.59125902A>C | CA380762300 | FAM111B | c.1805A>C (p.Tyr602Ser) c.1715A>C (p.Tyr572Ser) | |
| 11 | g.59125902A>G | CA6016377 | FAM111B | c.1805A>G (p.Tyr602Cys) c.1715A>G (p.Tyr572Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125902A>T | CA380762305 | FAM111B | c.1805A>T (p.Tyr602Phe) c.1715A>T (p.Tyr572Phe) | |
| 11 | g.59125903T>A | CA380762307 | FAM111B | c.1806T>A (p.Tyr602Ter) c.1716T>A (p.Tyr572Ter) | gnomAD v4 |
| 11 | g.59125903T>C | CA474819130 | FAM111B | c.1806T>C (p.Tyr602=) c.1716T>C (p.Tyr572=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125903T>G | CA380762311 | FAM111B | c.1806T>G (p.Tyr602Ter) c.1716T>G (p.Tyr572Ter) | |
| 11 | g.59125903T= | CA1976249572 | FAM111B | c.1806T= (p.Tyr602=) c.1716T= (p.Tyr572=) | |
| 11 | g.59125904C>A | CA380762319 | FAM111B | c.1807C>A (p.Pro603Thr) c.1717C>A (p.Pro573Thr) | dbSNP gnomAD v4 |
| 11 | g.59125904C= | CA1976249574 | FAM111B | c.1807C= (p.Pro603=) c.1717C= (p.Pro573=) | |
| 11 | g.59125904C>G | CA6016378 | FAM111B | c.1807C>G (p.Pro603Ala) c.1717C>G (p.Pro573Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125904C>T | CA380762314 | FAM111B | c.1807C>T (p.Pro603Ser) c.1717C>T (p.Pro573Ser) | |
| 11 | g.59125905C>A | CA6016379 | FAM111B | c.1808C>A (p.Pro603Gln) c.1718C>A (p.Pro573Gln) | dbSNP ExAC gnomAD v2 |
| 11 | g.59125905C= | CA1976249577 | FAM111B | c.1808C= (p.Pro603=) c.1718C= (p.Pro573=) | |
| 11 | g.59125905C>G | CA380762324 | FAM111B | c.1808C>G (p.Pro603Arg) c.1718C>G (p.Pro573Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125905C>T | CA380762327 | FAM111B | c.1808C>T (p.Pro603Leu) c.1718C>T (p.Pro573Leu) | |
| 11 | g.59125906A>C | CA474819131 | FAM111B | c.1809A>C (p.Pro603=) c.1719A>C (p.Pro573=) | |
| 11 | g.59125906A>G | CA474819132 | FAM111B | c.1809A>G (p.Pro603=) c.1719A>G (p.Pro573=) | |
| 11 | g.59125906A>T | CA474819133 | FAM111B | c.1809A>T (p.Pro603=) c.1719A>T (p.Pro573=) | |
| 11 | g.59125907A>C | CA380762330 | FAM111B | c.1810A>C (p.Asn604His) c.1720A>C (p.Asn574His) | |
| 11 | g.59125907A>G | CA380762332 | FAM111B | c.1810A>G (p.Asn604Asp) c.1720A>G (p.Asn574Asp) | |
| 11 | g.59125907A>T | CA380762336 | FAM111B | c.1810A>T (p.Asn604Tyr) c.1720A>T (p.Asn574Tyr) | |
| 11 | g.59125908A>C | CA380762338 | FAM111B | c.1811A>C (p.Asn604Thr) c.1721A>C (p.Asn574Thr) | gnomAD v4 |
| 11 | g.59125908A>G | CA380762341 | FAM111B | c.1811A>G (p.Asn604Ser) c.1721A>G (p.Asn574Ser) | |
| 11 | g.59125908A>T | CA380762344 | FAM111B | c.1811A>T (p.Asn604Ile) c.1721A>T (p.Asn574Ile) | |
| 11 | g.59125909C>A | CA6016380 | FAM111B | c.1812C>A (p.Asn604Lys) c.1722C>A (p.Asn574Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125909C= | CA1976249579 | FAM111B | c.1812C= (p.Asn604=) c.1722C= (p.Asn574=) | |
| 11 | g.59125909C>G | CA6016381 | FAM111B | c.1812C>G (p.Asn604Lys) c.1722C>G (p.Asn574Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125909C>T | CA474819134 | FAM111B | c.1812C>T (p.Asn604=) c.1722C>T (p.Asn574=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125910G>A | CA380762366 | FAM111B | c.1813G>A (p.Asp605Asn) c.1723G>A (p.Asp575Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125910G>C | CA380762368 | FAM111B | c.1813G>C (p.Asp605His) c.1723G>C (p.Asp575His) | |
| 11 | g.59125910G= | CA1976249582 | FAM111B | c.1813G= (p.Asp605=) c.1723G= (p.Asp575=) | |
| 11 | g.59125910G>T | CA380762364 | FAM111B | c.1813G>T (p.Asp605Tyr) c.1723G>T (p.Asp575Tyr) | gnomAD v4 |
| 11 | g.59125911A= | CA1976249584 | FAM111B | c.1814A= (p.Asp605=) c.1724A= (p.Asp575=) | |
| 11 | g.59125911A>C | CA380762372 | FAM111B | c.1814A>C (p.Asp605Ala) c.1724A>C (p.Asp575Ala) | |
| 11 | g.59125911A>G | CA6016382 | FAM111B | c.1814A>G (p.Asp605Gly) c.1724A>G (p.Asp575Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125911A>T | CA380762376 | FAM111B | c.1814A>T (p.Asp605Val) c.1724A>T (p.Asp575Val) | |
| 11 | g.59125912T>A | CA380762378 | FAM111B | c.1815T>A (p.Asp605Glu) c.1725T>A (p.Asp575Glu) | |
| 11 | g.59125912T>C | CA474819135 | FAM111B | c.1815T>C (p.Asp605=) c.1725T>C (p.Asp575=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125912T>G | CA380762381 | FAM111B | c.1815T>G (p.Asp605Glu) c.1725T>G (p.Asp575Glu) | |
| 11 | g.59125912T= | CA1976249585 | FAM111B | c.1815T= (p.Asp605=) c.1725T= (p.Asp575=) | |
| 11 | g.59125913del | CA2613666549 | FAM111B | c.1816del (p.Cys606ValfsTer6) c.1726del (p.Cys576ValfsTer6) | gnomAD v4 |
| 11 | g.59125913T>A | CA380762387 | FAM111B | c.1816T>A (p.Cys606Ser) c.1726T>A (p.Cys576Ser) | |
| 11 | g.59125913T>C | CA380762383 | FAM111B | c.1816T>C (p.Cys606Arg) c.1726T>C (p.Cys576Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125913T>G | CA380762384 | FAM111B | c.1816T>G (p.Cys606Gly) c.1726T>G (p.Cys576Gly) | dbSNP gnomAD v2 |
| 11 | g.59125913T= | CA1976249587 | FAM111B | c.1816T= (p.Cys606=) c.1726T= (p.Cys576=) | |
| 11 | g.59125914G>A | CA380762390 | FAM111B | c.1817G>A (p.Cys606Tyr) c.1727G>A (p.Cys576Tyr) | |
| 11 | g.59125914G>C | CA380762392 | FAM111B | c.1817G>C (p.Cys606Ser) c.1727G>C (p.Cys576Ser) | |
| 11 | g.59125914G>T | CA380762398 | FAM111B | c.1817G>T (p.Cys606Phe) c.1727G>T (p.Cys576Phe) | |
| 11 | g.59125915T>A | CA380762400 | FAM111B | c.1818T>A (p.Cys606Ter) c.1728T>A (p.Cys576Ter) | |
| 11 | g.59125915T>C | CA474819136 | FAM111B | c.1818T>C (p.Cys606=) c.1728T>C (p.Cys576=) | |
| 11 | g.59125915T>G | CA380762402 | FAM111B | c.1818T>G (p.Cys606Trp) c.1728T>G (p.Cys576Trp) | |
| 11 | g.59125916C>A | CA380762406 | FAM111B | c.1819C>A (p.Gln607Lys) c.1729C>A (p.Gln577Lys) | |
| 11 | g.59125916C>G | CA380762409 | FAM111B | c.1819C>G (p.Gln607Glu) c.1729C>G (p.Gln577Glu) | |
| 11 | g.59125916C>T | CA380762408 | FAM111B | c.1819C>T (p.Gln607Ter) c.1729C>T (p.Gln577Ter) | |
| 11 | g.59125917A= | CA1976249589 | FAM111B | c.1820A= (p.Gln607=) c.1730A= (p.Gln577=) | |
| 11 | g.59125917A>C | CA380762410 | FAM111B | c.1820A>C (p.Gln607Pro) c.1730A>C (p.Gln577Pro) | |
| 11 | g.59125917A>G | CA6016383 | FAM111B | c.1820A>G (p.Gln607Arg) c.1730A>G (p.Gln577Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125917A>T | CA380762411 | FAM111B | c.1820A>T (p.Gln607Leu) c.1730A>T (p.Gln577Leu) | |
| 11 | g.59125917_59125919delinsAAG | CA1976249590 | FAM111B | c.1820_1822delinsAAG (p.Gln607=) c.1730_1732delinsAAG (p.Gln577=) | |
| 11 | g.59125918A= | CA1976249593 | FAM111B | c.1821A= (p.Gln607=) c.1731A= (p.Gln577=) | |
| 11 | g.59125918A>C | CA380762415 | FAM111B | c.1821A>C (p.Gln607His) c.1731A>C (p.Gln577His) | |
| 11 | g.59125918A>G | CA6016384 | FAM111B | c.1821A>G (p.Gln607=) c.1731A>G (p.Gln577=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125918A>T | CA380762418 | FAM111B | c.1821A>T (p.Gln607His) c.1731A>T (p.Gln577His) | |
| 11 | g.59125919_59125920del | CA1976249592 | FAM111B | c.1822_1823del (p.Asp608TrpfsTer7) c.1732_1733del (p.Asp578TrpfsTer7) | dbSNP |
| 11 | g.59125919G>A | CA380762422 | FAM111B | c.1822G>A (p.Asp608Asn) c.1732G>A (p.Asp578Asn) | |
| 11 | g.59125919G>C | CA380762424 | FAM111B | c.1822G>C (p.Asp608His) c.1732G>C (p.Asp578His) | dbSNP |
| 11 | g.59125919G= | CA1976249595 | FAM111B | c.1822G= (p.Asp608=) c.1732G= (p.Asp578=) | |
| 11 | g.59125919G>T | CA380762426 | FAM111B | c.1822G>T (p.Asp608Tyr) c.1732G>T (p.Asp578Tyr) | |
| 11 | g.59125920A= | CA1976249597 | FAM111B | c.1823A= (p.Asp608=) c.1733A= (p.Asp578=) | |
| 11 | g.59125920A>C | CA380762429 | FAM111B | c.1823A>C (p.Asp608Ala) c.1733A>C (p.Asp578Ala) | |
| 11 | g.59125920A>G | CA380762431 | FAM111B | c.1823A>G (p.Asp608Gly) c.1733A>G (p.Asp578Gly) | dbSNP gnomAD v4 |
| 11 | g.59125920A>T | CA380762434 | FAM111B | c.1823A>T (p.Asp608Val) c.1733A>T (p.Asp578Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59125921T>A | CA380762437 | FAM111B | c.1824T>A (p.Asp608Glu) c.1734T>A (p.Asp578Glu) | |
| 11 | g.59125921T>C | CA474819137 | FAM111B | c.1824T>C (p.Asp608=) c.1734T>C (p.Asp578=) | gnomAD v4 |
| 11 | g.59125921T>G | CA380762439 | FAM111B | c.1824T>G (p.Asp608Glu) c.1734T>G (p.Asp578Glu) | |
| 11 | g.59125922G>A | CA380762442 | FAM111B | c.1825G>A (p.Gly609Arg) c.1735G>A (p.Gly579Arg) | |
| 11 | g.59125922G>C | CA380762444 | FAM111B | c.1825G>C (p.Gly609Arg) c.1735G>C (p.Gly579Arg) | |
| 11 | g.59125922G>T | CA380762446 | FAM111B | c.1825G>T (p.Gly609Trp) c.1735G>T (p.Gly579Trp) | |
| 11 | g.59125924del | CA2613666550 | FAM111B | c.1827del (p.Leu610TrpfsTer2) c.1737del (p.Leu580TrpfsTer2) | gnomAD v4 |
| 11 | g.59125923G>A | CA380762449 | FAM111B | c.1826G>A (p.Gly609Glu) c.1736G>A (p.Gly579Glu) | gnomAD v4 |
| 11 | g.59125923G>C | CA380762451 | FAM111B | c.1826G>C (p.Gly609Ala) c.1736G>C (p.Gly579Ala) | |
| 11 | g.59125923G>T | CA380762453 | FAM111B | c.1826G>T (p.Gly609Val) c.1736G>T (p.Gly579Val) | |
| 11 | g.59125924G>A | CA474819138 | FAM111B | c.1827G>A (p.Gly609=) c.1737G>A (p.Gly579=) | |
| 11 | g.59125924G>C | CA474819139 | FAM111B | c.1827G>C (p.Gly609=) c.1737G>C (p.Gly579=) | |
| 11 | g.59125924G>T | CA474819140 | FAM111B | c.1827G>T (p.Gly609=) c.1737G>T (p.Gly579=) | |
| 11 | g.59125925T>A | CA380762456 | FAM111B | c.1828T>A (p.Leu610Met) c.1738T>A (p.Leu580Met) | |
| 11 | g.59125925T>C | CA474819141 | FAM111B | c.1828T>C (p.Leu610=) c.1738T>C (p.Leu580=) | |
| 11 | g.59125925T>G | CA380762457 | FAM111B | c.1828T>G (p.Leu610Val) c.1738T>G (p.Leu580Val) | |
| 11 | g.59125926T>A | CA380762460 | FAM111B | c.1829T>A (p.Leu610Ter) c.1739T>A (p.Leu580Ter) | dbSNP gnomAD v4 |
| 11 | g.59125926T>C | CA380762462 | FAM111B | c.1829T>C (p.Leu610Ser) c.1739T>C (p.Leu580Ser) | |
| 11 | g.59125926T>G | CA380762464 | FAM111B | c.1829T>G (p.Leu610Trp) c.1739T>G (p.Leu580Trp) | |
| 11 | g.59125926T= | CA1976249599 | FAM111B | c.1829T= (p.Leu610=) c.1739T= (p.Leu580=) | |
| 11 | g.59125927G>A | CA474819142 | FAM111B | c.1830G>A (p.Leu610=) c.1740G>A (p.Leu580=) | gnomAD v4 |
| 11 | g.59125927G>C | CA380762468 | FAM111B | c.1830G>C (p.Leu610Phe) c.1740G>C (p.Leu580Phe) | |
| 11 | g.59125927G>T | CA380762469 | FAM111B | c.1830G>T (p.Leu610Phe) c.1740G>T (p.Leu580Phe) | |
| 11 | g.59125928G>A | CA380762478 | FAM111B | c.1831G>A (p.Val611Ile) c.1741G>A (p.Val581Ile) | dbSNP gnomAD v4 |
| 11 | g.59125928G>C | CA380762475 | FAM111B | c.1831G>C (p.Val611Leu) c.1741G>C (p.Val581Leu) | |
| 11 | g.59125928G= | CA1976249601 | FAM111B | c.1831G= (p.Val611=) c.1741G= (p.Val581=) | |
| 11 | g.59125928G>T | CA380762473 | FAM111B | c.1831G>T (p.Val611Leu) c.1741G>T (p.Val581Leu) | |
| 11 | g.59125929T>A | CA380762481 | FAM111B | c.1832T>A (p.Val611Glu) c.1742T>A (p.Val581Glu) | |
| 11 | g.59125929T>C | CA6016385 | FAM111B | c.1832T>C (p.Val611Ala) c.1742T>C (p.Val581Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125929T>G | CA380762483 | FAM111B | c.1832T>G (p.Val611Gly) c.1742T>G (p.Val581Gly) | |
| 11 | g.59125929T= | CA1976249603 | FAM111B | c.1832T= (p.Val611=) c.1742T= (p.Val581=) | |
| 11 | g.59125930A>C | CA474819143 | FAM111B | c.1833A>C (p.Val611=) c.1743A>C (p.Val581=) | |
| 11 | g.59125930A>G | CA474819145 | FAM111B | c.1833A>G (p.Val611=) c.1743A>G (p.Val581=) | COSMIC |
| 11 | g.59125930A>T | CA474819144 | FAM111B | c.1833A>T (p.Val611=) c.1743A>T (p.Val581=) | |
| 11 | g.59125931G>A | CA380762487 | FAM111B | c.1834G>A (p.Asp612Asn) c.1744G>A (p.Asp582Asn) | |
| 11 | g.59125931G>C | CA380762489 | FAM111B | c.1834G>C (p.Asp612His) c.1744G>C (p.Asp582His) | |
| 11 | g.59125931G>T | CA380762492 | FAM111B | c.1834G>T (p.Asp612Tyr) c.1744G>T (p.Asp582Tyr) | |
| 11 | g.59125932A= | CA1976249605 | FAM111B | c.1835A= (p.Asp612=) c.1745A= (p.Asp582=) | |
| 11 | g.59125932A>C | CA380762495 | FAM111B | c.1835A>C (p.Asp612Ala) c.1745A>C (p.Asp582Ala) | |
| 11 | g.59125932A>G | CA380762497 | FAM111B | c.1835A>G (p.Asp612Gly) c.1745A>G (p.Asp582Gly) | |
| 11 | g.59125932A>T | CA380762499 | FAM111B | c.1835A>T (p.Asp612Val) c.1745A>T (p.Asp582Val) | dbSNP |
| 11 | g.59125933T>A | CA6016387 | FAM111B | c.1836T>A (p.Asp612Glu) c.1746T>A (p.Asp582Glu) | dbSNP ExAC gnomAD v2 |
| 11 | g.59125933T>C | CA223156527 | FAM111B | c.1836T>C (p.Asp612=) c.1746T>C (p.Asp582=) | dbSNP |
| 11 | g.59125933T>G | CA6016386 | FAM111B | c.1836T>G (p.Asp612Glu) c.1746T>G (p.Asp582Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125933T= | CA1976249608 | FAM111B | c.1836T= (p.Asp612=) c.1746T= (p.Asp582=) | |
| 11 | g.59125934C>A | CA380762506 | FAM111B | c.1837C>A (p.Leu613Ile) c.1747C>A (p.Leu583Ile) | |
| 11 | g.59125934C>G | CA380762508 | FAM111B | c.1837C>G (p.Leu613Val) c.1747C>G (p.Leu583Val) | |
| 11 | g.59125934C>T | CA380762510 | FAM111B | c.1837C>T (p.Leu613Phe) c.1747C>T (p.Leu583Phe) | gnomAD v4 |
| 11 | g.59125935T>A | CA380762515 | FAM111B | c.1838T>A (p.Leu613His) c.1748T>A (p.Leu583His) | |
| 11 | g.59125935T>C | CA380762517 | FAM111B | c.1838T>C (p.Leu613Pro) c.1748T>C (p.Leu583Pro) | |
| 11 | g.59125935T>G | CA380762513 | FAM111B | c.1838T>G (p.Leu613Arg) c.1748T>G (p.Leu583Arg) | |
| 11 | g.59125936C>A | CA474819146 | FAM111B | c.1839C>A (p.Leu613=) c.1749C>A (p.Leu583=) | |
| 11 | g.59125936C>G | CA474819147 | FAM111B | c.1839C>G (p.Leu613=) c.1749C>G (p.Leu583=) | |
| 11 | g.59125936C>T | CA474819148 | FAM111B | c.1839C>T (p.Leu613=) c.1749C>T (p.Leu583=) | |
| 11 | g.59125937T>A | CA380762520 | FAM111B | c.1840T>A (p.Tyr614Asn) c.1750T>A (p.Tyr584Asn) | |
| 11 | g.59125937T>C | CA380762521 | FAM111B | c.1840T>C (p.Tyr614His) c.1750T>C (p.Tyr584His) | |
| 11 | g.59125937T>G | CA380762523 | FAM111B | c.1840T>G (p.Tyr614Asp) c.1750T>G (p.Tyr584Asp) | |
| 11 | g.59125937dup | CA2613666551 | FAM111B | c.1840dup (p.Tyr614LeufsTer2) c.1750dup (p.Tyr584LeufsTer2) | gnomAD v4 |
| 11 | g.59125938_59125939del | CA2792268548 | FAM111B | c.1841_1842del (p.Tyr614Ter) c.1751_1752del (p.Tyr584Ter) | |
| 11 | g.59125938A= | CA1976249611 | FAM111B | c.1841A= (p.Tyr614=) c.1751A= (p.Tyr584=) | |
| 11 | g.59125938A>C | CA380762526 | FAM111B | c.1841A>C (p.Tyr614Ser) c.1751A>C (p.Tyr584Ser) | |
| 11 | g.59125938A>G | CA6016388 | FAM111B | c.1841A>G (p.Tyr614Cys) c.1751A>G (p.Tyr584Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125938A>T | CA380762531 | FAM111B | c.1841A>T (p.Tyr614Phe) c.1751A>T (p.Tyr584Phe) | |
| 11 | g.59125940_59125942del | CA2613666552 | FAM111B | c.1843_1845del (p.Asp615del) c.1753_1755del (p.Asp585del) | gnomAD v4 |
| 11 | g.59125939T>A | CA380762533 | FAM111B | c.1842T>A (p.Tyr614Ter) c.1752T>A (p.Tyr584Ter) | |
| 11 | g.59125939T>C | CA474819149 | FAM111B | c.1842T>C (p.Tyr614=) c.1752T>C (p.Tyr584=) | |
| 11 | g.59125939T>G | CA380762535 | FAM111B | c.1842T>G (p.Tyr614Ter) c.1752T>G (p.Tyr584Ter) | |
| 11 | g.59125940G>A | CA380762539 | FAM111B | c.1843G>A (p.Asp615Asn) c.1753G>A (p.Asp585Asn) | |
| 11 | g.59125940G>C | CA380762541 | FAM111B | c.1843G>C (p.Asp615His) c.1753G>C (p.Asp585His) | |
| 11 | g.59125940G>T | CA380762543 | FAM111B | c.1843G>T (p.Asp615Tyr) c.1753G>T (p.Asp585Tyr) | |
| 11 | g.59125941A= | CA1976249613 | FAM111B | c.1844A= (p.Asp615=) c.1754A= (p.Asp585=) | |
| 11 | g.59125941A>C | CA380762549 | FAM111B | c.1844A>C (p.Asp615Ala) c.1754A>C (p.Asp585Ala) | |
| 11 | g.59125941A>G | CA380762548 | FAM111B | c.1844A>G (p.Asp615Gly) c.1754A>G (p.Asp585Gly) | dbSNP |
| 11 | g.59125941A>T | CA380762546 | FAM111B | c.1844A>T (p.Asp615Val) c.1754A>T (p.Asp585Val) | |
| 11 | g.59125942T>A | CA380762552 | FAM111B | c.1845T>A (p.Asp615Glu) c.1755T>A (p.Asp585Glu) | |
| 11 | g.59125942T>C | CA474819150 | FAM111B | c.1845T>C (p.Asp615=) c.1755T>C (p.Asp585=) | |
| 11 | g.59125942T>G | CA380762554 | FAM111B | c.1845T>G (p.Asp615Glu) c.1755T>G (p.Asp585Glu) | |
| 11 | g.59125943A= | CA1976249618 | FAM111B | c.1846A= (p.Thr616=) c.1756A= (p.Thr586=) | |
| 11 | g.59125943A>C | CA380762557 | FAM111B | c.1846A>C (p.Thr616Pro) c.1756A>C (p.Thr586Pro) | |
| 11 | g.59125943A>G | CA6016389 | FAM111B | c.1846A>G (p.Thr616Ala) c.1756A>G (p.Thr586Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125943A>T | CA380762561 | FAM111B | c.1846A>T (p.Thr616Ser) c.1756A>T (p.Thr586Ser) | |
| 11 | g.59125943_59125944delinsAC | CA1976249615 | FAM111B | c.1846_1847delinsAC (p.Thr616=) c.1756_1757delinsAC (p.Thr586=) | |
| 11 | g.59125944C>A | CA380762565 | FAM111B | c.1847C>A (p.Thr616Asn) c.1757C>A (p.Thr586Asn) | |
| 11 | g.59125944C>G | CA380762567 | FAM111B | c.1847C>G (p.Thr616Ser) c.1757C>G (p.Thr586Ser) | |
| 11 | g.59125944C>T | CA380762570 | FAM111B | c.1847C>T (p.Thr616Ile) c.1757C>T (p.Thr586Ile) | gnomAD v4 COSMIC |
| 11 | g.59125945del | CA6016390 | FAM111B | c.1848del (p.Thr617ProfsTer?) c.1758del (p.Thr587ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125945C>A | CA474819152 | FAM111B | c.1848C>A (p.Thr616=) c.1758C>A (p.Thr586=) | |
| 11 | g.59125945C= | CA1976249623 | FAM111B | c.1848C= (p.Thr616=) c.1758C= (p.Thr586=) | |
| 11 | g.59125945C>G | CA474819151 | FAM111B | c.1848C>G (p.Thr616=) c.1758C>G (p.Thr586=) | |
| 11 | g.59125945C>T | CA223156542 | FAM111B | c.1848C>T (p.Thr616=) c.1758C>T (p.Thr586=) | dbSNP gnomAD v4 |
| 11 | g.59125946A= | CA1976249626 | FAM111B | c.1849A= (p.Thr617=) c.1759A= (p.Thr587=) | |
| 11 | g.59125946A>C | CA380762575 | FAM111B | c.1849A>C (p.Thr617Pro) c.1759A>C (p.Thr587Pro) | |
| 11 | g.59125946A>G | CA380762577 | FAM111B | c.1849A>G (p.Thr617Ala) c.1759A>G (p.Thr587Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125946A>T | CA380762580 | FAM111B | c.1849A>T (p.Thr617Ser) c.1759A>T (p.Thr587Ser) | |
| 11 | g.59125947C>A | CA380762587 | FAM111B | c.1850C>A (p.Thr617Asn) c.1760C>A (p.Thr587Asn) | |
| 11 | g.59125947C= | CA1976249628 | FAM111B | c.1850C= (p.Thr617=) c.1760C= (p.Thr587=) | |
| 11 | g.59125947C>G | CA380762584 | FAM111B | c.1850C>G (p.Thr617Ser) c.1760C>G (p.Thr587Ser) | |
| 11 | g.59125947C>T | CA6016391 | FAM111B | c.1850C>T (p.Thr617Ile) c.1760C>T (p.Thr587Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59125948C>A | CA474819153 | FAM111B | c.1851C>A (p.Thr617=) c.1761C>A (p.Thr587=) | |
| 11 | g.59125948C>G | CA474819154 | FAM111B | c.1851C>G (p.Thr617=) c.1761C>G (p.Thr587=) | |
| 11 | g.59125948C>T | CA474819155 | FAM111B | c.1851C>T (p.Thr617=) c.1761C>T (p.Thr587=) | |
| 11 | g.59125949A= | CA1976249630 | FAM111B | c.1852A= (p.Ser618=) c.1762A= (p.Ser588=) | |
| 11 | g.59125949A>C | CA380762591 | FAM111B | c.1852A>C (p.Ser618Arg) c.1762A>C (p.Ser588Arg) | |
| 11 | g.59125949A>G | CA6016392 | FAM111B | c.1852A>G (p.Ser618Gly) c.1762A>G (p.Ser588Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125949A>T | CA380762593 | FAM111B | c.1852A>T (p.Ser618Cys) c.1762A>T (p.Ser588Cys) | gnomAD v4 |
| 11 | g.59125950G>A | CA380762597 | FAM111B | c.1853G>A (p.Ser618Asn) c.1763G>A (p.Ser588Asn) | |
| 11 | g.59125950G>C | CA380762599 | FAM111B | c.1853G>C (p.Ser618Thr) c.1763G>C (p.Ser588Thr) | |
| 11 | g.59125950G>T | CA380762601 | FAM111B | c.1853G>T (p.Ser618Ile) c.1763G>T (p.Ser588Ile) | |
| 11 | g.59125951T>A | CA380762605 | FAM111B | c.1854T>A (p.Ser618Arg) c.1764T>A (p.Ser588Arg) | |
| 11 | g.59125951T>C | CA474819156 | FAM111B | c.1854T>C (p.Ser618=) c.1764T>C (p.Ser588=) | |
| 11 | g.59125951T>G | CA380762607 | FAM111B | c.1854T>G (p.Ser618Arg) c.1764T>G (p.Ser588Arg) | |
| 11 | g.59125952A>C | CA380762613 | FAM111B | c.1855A>C (p.Asn619His) c.1765A>C (p.Asn589His) | |
| 11 | g.59125952A>G | CA380762611 | FAM111B | c.1855A>G (p.Asn619Asp) c.1765A>G (p.Asn589Asp) | |
| 11 | g.59125952A>T | CA380762609 | FAM111B | c.1855A>T (p.Asn619Tyr) c.1765A>T (p.Asn589Tyr) | |
| 11 | g.59125953A>C | CA380762617 | FAM111B | c.1856A>C (p.Asn619Thr) c.1766A>C (p.Asn589Thr) | |
| 11 | g.59125953A>G | CA380762618 | FAM111B | c.1856A>G (p.Asn619Ser) c.1766A>G (p.Asn589Ser) | |
| 11 | g.59125953A>T | CA380762621 | FAM111B | c.1856A>T (p.Asn619Ile) c.1766A>T (p.Asn589Ile) | |
| 11 | g.59125954T>A | CA380762623 | FAM111B | c.1857T>A (p.Asn619Lys) c.1767T>A (p.Asn589Lys) | |
| 11 | g.59125954T>C | CA6016393 | FAM111B | c.1857T>C (p.Asn619=) c.1767T>C (p.Asn589=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59125954T>G | CA380762626 | FAM111B | c.1857T>G (p.Asn619Lys) c.1767T>G (p.Asn589Lys) | |
| 11 | g.59125954T= | CA1976249632 | FAM111B | c.1857T= (p.Asn619=) c.1767T= (p.Asn589=) | |
| 11 | g.59125955G>A | CA380762628 | FAM111B | c.1858G>A (p.Val620Ile) c.1768G>A (p.Val590Ile) | dbSNP gnomAD v4 |
| 11 | g.59125955G>C | CA380762631 | FAM111B | c.1858G>C (p.Val620Leu) c.1768G>C (p.Val590Leu) | |
| 11 | g.59125955G= | CA1976249634 | FAM111B | c.1858G= (p.Val620=) c.1768G= (p.Val590=) | |
| 11 | g.59125955G>T | CA380762630 | FAM111B | c.1858G>T (p.Val620Leu) c.1768G>T (p.Val590Leu) | |
| 11 | g.59125956T>A | CA380762635 | FAM111B | c.1859T>A (p.Val620Glu) c.1769T>A (p.Val590Glu) | |
| 11 | g.59125956T>C | CA380762637 | FAM111B | c.1859T>C (p.Val620Ala) c.1769T>C (p.Val590Ala) | |
| 11 | g.59125956T>G | CA380762639 | FAM111B | c.1859T>G (p.Val620Gly) c.1769T>G (p.Val590Gly) | |
| 11 | g.59125956T= | CA1976249637 | FAM111B | c.1859T= (p.Val620=) c.1769T= (p.Val590=) | |
| 11 | g.59125957A>C | CA474819157 | FAM111B | c.1860A>C (p.Val620=) c.1770A>C (p.Val590=) | |
| 11 | g.59125957A>G | CA474819158 | FAM111B | c.1860A>G (p.Val620=) c.1770A>G (p.Val590=) | gnomAD v4 |
| 11 | g.59125957A>T | CA474819159 | FAM111B | c.1860A>T (p.Val620=) c.1770A>T (p.Val590=) | |
| 11 | g.59125957_59125958insAA | CA599807262 | FAM111B | c.1860_1861insAA (p.Tyr621AsnfsTer?) c.1770_1771insAA (p.Tyr591AsnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59125958T>A | CA380762641 | FAM111B | c.1861T>A (p.Tyr621Asn) c.1771T>A (p.Tyr591Asn) | |
| 11 | g.59125958T>C | CA380762644 | FAM111B | c.1861T>C (p.Tyr621His) c.1771T>C (p.Tyr591His) | |
| 11 | g.59125958T>G | CA150785 | FAM111B | c.1861T>G (p.Tyr621Asp) c.1771T>G (p.Tyr591Asp) | ClinVar dbSNP |
| 11 | g.59125958T= | CA1976249644 | FAM111B | c.1861T= (p.Tyr621=) c.1771T= (p.Tyr591=) |