Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.207611763A>C | CA344545103 | CR1 | c.6382A>C (p.Ser2128Arg) c.5032A>C (p.Ser1678Arg) c.1180-4812A>C c.6397A>C (p.Ser2133Arg) c.5047A>C (p.Ser1683Arg) | |
1 | g.207611763A>G | CA344545104 | CR1 | c.6382A>G (p.Ser2128Gly) c.5032A>G (p.Ser1678Gly) c.1180-4812A>G c.6397A>G (p.Ser2133Gly) c.5047A>G (p.Ser1683Gly) | |
1 | g.207611763A>T | CA344545105 | CR1 | c.6382A>T (p.Ser2128Cys) c.5032A>T (p.Ser1678Cys) c.1180-4812A>T c.6397A>T (p.Ser2133Cys) c.5047A>T (p.Ser1683Cys) | |
1 | g.207611764G>A | CA344545108 | CR1 | c.6383G>A (p.Ser2128Asn) c.5033G>A (p.Ser1678Asn) c.1180-4811G>A c.6398G>A (p.Ser2133Asn) c.5048G>A (p.Ser1683Asn) | |
1 | g.207611764G>C | CA344545107 | CR1 | c.6383G>C (p.Ser2128Thr) c.5033G>C (p.Ser1678Thr) c.1180-4811G>C c.6398G>C (p.Ser2133Thr) c.5048G>C (p.Ser1683Thr) | |
1 | g.207611764G>T | CA344545106 | CR1 | c.6383G>T (p.Ser2128Ile) c.5033G>T (p.Ser1678Ile) c.1180-4811G>T c.6398G>T (p.Ser2133Ile) c.5048G>T (p.Ser1683Ile) | |
1 | g.207611765C>A | CA344545109 | CR1 | c.6384C>A (p.Ser2128Arg) c.5034C>A (p.Ser1678Arg) c.1180-4810C>A c.6399C>A (p.Ser2133Arg) c.5049C>A (p.Ser1683Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611765C= | CA2483456546 | CR1 | c.6384C= (p.Ser2128=) c.5034C= (p.Ser1678=) c.1180-4810C= c.6399C= (p.Ser2133=) c.5049C= (p.Ser1683=) | |
1 | g.207611765C>G | CA344545110 | CR1 | c.6384C>G (p.Ser2128Arg) c.5034C>G (p.Ser1678Arg) c.1180-4810C>G c.6399C>G (p.Ser2133Arg) c.5049C>G (p.Ser1683Arg) | |
1 | g.207611765C>T | CA422972931 | CR1 | c.6384C>T (p.Ser2128=) c.5034C>T (p.Ser1678=) c.1180-4810C>T c.6399C>T (p.Ser2133=) c.5049C>T (p.Ser1683=) | |
1 | g.207611766T>A | CA344545111 | CR1 | c.6385T>A (p.Cys2129Ser) c.5035T>A (p.Cys1679Ser) c.1180-4809T>A c.6400T>A (p.Cys2134Ser) c.5050T>A (p.Cys1684Ser) | |
1 | g.207611766T>C | CA344545112 | CR1 | c.6385T>C (p.Cys2129Arg) c.5035T>C (p.Cys1679Arg) c.1180-4809T>C c.6400T>C (p.Cys2134Arg) c.5050T>C (p.Cys1684Arg) | |
1 | g.207611766T>G | CA344545113 | CR1 | c.6385T>G (p.Cys2129Gly) c.5035T>G (p.Cys1679Gly) c.1180-4809T>G c.6400T>G (p.Cys2134Gly) c.5050T>G (p.Cys1684Gly) | |
1 | g.207611767G>A | CA344545114 | CR1 | c.6386G>A (p.Cys2129Tyr) c.5036G>A (p.Cys1679Tyr) c.1180-4808G>A c.6401G>A (p.Cys2134Tyr) c.5051G>A (p.Cys1684Tyr) | |
1 | g.207611767G>C | CA1370430 | CR1 | c.6386G>C (p.Cys2129Ser) c.5036G>C (p.Cys1679Ser) c.1180-4808G>C c.6401G>C (p.Cys2134Ser) c.5051G>C (p.Cys1684Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611767G= | CA2483456547 | CR1 | c.6386G= (p.Cys2129=) c.5036G= (p.Cys1679=) c.1180-4808G= c.6401G= (p.Cys2134=) c.5051G= (p.Cys1684=) | |
1 | g.207611767G>T | CA344545115 | CR1 | c.6386G>T (p.Cys2129Phe) c.5036G>T (p.Cys1679Phe) c.1180-4808G>T c.6401G>T (p.Cys2134Phe) c.5051G>T (p.Cys1684Phe) | |
1 | g.207611768T>A | CA344545116 | CR1 | c.6387T>A (p.Cys2129Ter) c.5037T>A (p.Cys1679Ter) c.1180-4807T>A c.6402T>A (p.Cys2134Ter) c.5052T>A (p.Cys1684Ter) | |
1 | g.207611768T>C | CA422972940 | CR1 | c.6387T>C (p.Cys2129=) c.5037T>C (p.Cys1679=) c.1180-4807T>C c.6402T>C (p.Cys2134=) c.5052T>C (p.Cys1684=) | |
1 | g.207611768T>G | CA344545117 | CR1 | c.6387T>G (p.Cys2129Trp) c.5037T>G (p.Cys1679Trp) c.1180-4807T>G c.6402T>G (p.Cys2134Trp) c.5052T>G (p.Cys1684Trp) | |
1 | g.207611769G>A | CA344545118 | CR1 | c.6388G>A (p.Glu2130Lys) c.5038G>A (p.Glu1680Lys) c.1180-4806G>A c.6403G>A (p.Glu2135Lys) c.5053G>A (p.Glu1685Lys) | dbSNP gnomAD v4 |
1 | g.207611769G>C | CA344545119 | CR1 | c.6388G>C (p.Glu2130Gln) c.5038G>C (p.Glu1680Gln) c.1180-4806G>C c.6403G>C (p.Glu2135Gln) c.5053G>C (p.Glu1685Gln) | |
1 | g.207611769G= | CA2483456548 | CR1 | c.6388G= (p.Glu2130=) c.5038G= (p.Glu1680=) c.1180-4806G= c.6403G= (p.Glu2135=) c.5053G= (p.Glu1685=) | |
1 | g.207611769G>T | CA344545120 | CR1 | c.6388G>T (p.Glu2130Ter) c.5038G>T (p.Glu1680Ter) c.1180-4806G>T c.6403G>T (p.Glu2135Ter) c.5053G>T (p.Glu1685Ter) | |
1 | g.207611770A>C | CA344545122 | CR1 | c.6389A>C (p.Glu2130Ala) c.5039A>C (p.Glu1680Ala) c.1180-4805A>C c.6404A>C (p.Glu2135Ala) c.5054A>C (p.Glu1685Ala) | |
1 | g.207611770A>G | CA344545123 | CR1 | c.6389A>G (p.Glu2130Gly) c.5039A>G (p.Glu1680Gly) c.1180-4805A>G c.6404A>G (p.Glu2135Gly) c.5054A>G (p.Glu1685Gly) | |
1 | g.207611770A>T | CA344545121 | CR1 | c.6389A>T (p.Glu2130Val) c.5039A>T (p.Glu1680Val) c.1180-4805A>T c.6404A>T (p.Glu2135Val) c.5054A>T (p.Glu1685Val) | |
1 | g.207611771G>A | CA422972949 | CR1 | c.6390G>A (p.Glu2130=) c.5040G>A (p.Glu1680=) c.1180-4804G>A c.6405G>A (p.Glu2135=) c.5055G>A (p.Glu1685=) | |
1 | g.207611771G>C | CA344545124 | CR1 | c.6390G>C (p.Glu2130Asp) c.5040G>C (p.Glu1680Asp) c.1180-4804G>C c.6405G>C (p.Glu2135Asp) c.5055G>C (p.Glu1685Asp) | |
1 | g.207611771G>T | CA344545125 | CR1 | c.6390G>T (p.Glu2130Asp) c.5040G>T (p.Glu1680Asp) c.1180-4804G>T c.6405G>T (p.Glu2135Asp) c.5055G>T (p.Glu1685Asp) | |
1 | g.207611772C>A | CA344545126 | CR1 | c.6391C>A (p.Pro2131Thr) c.5041C>A (p.Pro1681Thr) c.1180-4803C>A c.6406C>A (p.Pro2136Thr) c.5056C>A (p.Pro1686Thr) | |
1 | g.207611772C>G | CA344545127 | CR1 | c.6391C>G (p.Pro2131Ala) c.5041C>G (p.Pro1681Ala) c.1180-4803C>G c.6406C>G (p.Pro2136Ala) c.5056C>G (p.Pro1686Ala) | |
1 | g.207611772C>T | CA344545128 | CR1 | c.6391C>T (p.Pro2131Ser) c.5041C>T (p.Pro1681Ser) c.1180-4803C>T c.6406C>T (p.Pro2136Ser) c.5056C>T (p.Pro1686Ser) | |
1 | g.207611773C>A | CA344545129 | CR1 | c.6392C>A (p.Pro2131His) c.5042C>A (p.Pro1681His) c.1180-4802C>A c.6407C>A (p.Pro2136His) c.5057C>A (p.Pro1686His) | |
1 | g.207611773C>G | CA344545130 | CR1 | c.6392C>G (p.Pro2131Arg) c.5042C>G (p.Pro1681Arg) c.1180-4802C>G c.6407C>G (p.Pro2136Arg) c.5057C>G (p.Pro1686Arg) | |
1 | g.207611773C>T | CA344545131 | CR1 | c.6392C>T (p.Pro2131Leu) c.5042C>T (p.Pro1681Leu) c.1180-4802C>T c.6407C>T (p.Pro2136Leu) c.5057C>T (p.Pro1686Leu) | |
1 | g.207611774C>A | CA422972950 | CR1 | c.6393C>A (p.Pro2131=) c.5043C>A (p.Pro1681=) c.1180-4801C>A c.6408C>A (p.Pro2136=) c.5058C>A (p.Pro1686=) | COSMIC COSMIC |
1 | g.207611774C= | CA2483456549 | CR1 | c.6393C= (p.Pro2131=) c.5043C= (p.Pro1681=) c.1180-4801C= c.6408C= (p.Pro2136=) c.5058C= (p.Pro1686=) | |
1 | g.207611774C>G | CA422972951 | CR1 | c.6393C>G (p.Pro2131=) c.5043C>G (p.Pro1681=) c.1180-4801C>G c.6408C>G (p.Pro2136=) c.5058C>G (p.Pro1686=) | |
1 | g.207611774C>T | CA422972952 | CR1 | c.6393C>T (p.Pro2131=) c.5043C>T (p.Pro1681=) c.1180-4801C>T c.6408C>T (p.Pro2136=) c.5058C>T (p.Pro1686=) | dbSNP gnomAD v2 |
1 | g.207611775A= | CA2483456550 | CR1 | c.6394A= (p.Ser2132=) c.5044A= (p.Ser1682=) c.1180-4800A= c.6409A= (p.Ser2137=) c.5059A= (p.Ser1687=) | |
1 | g.207611775A>C | CA344545132 | CR1 | c.6394A>C (p.Ser2132Arg) c.5044A>C (p.Ser1682Arg) c.1180-4800A>C c.6409A>C (p.Ser2137Arg) c.5059A>C (p.Ser1687Arg) | |
1 | g.207611775A>G | CA344545133 | CR1 | c.6394A>G (p.Ser2132Gly) c.5044A>G (p.Ser1682Gly) c.1180-4800A>G c.6409A>G (p.Ser2137Gly) c.5059A>G (p.Ser1687Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.207611775A>T | CA344545134 | CR1 | c.6394A>T (p.Ser2132Cys) c.5044A>T (p.Ser1682Cys) c.1180-4800A>T c.6409A>T (p.Ser2137Cys) c.5059A>T (p.Ser1687Cys) | COSMIC COSMIC |
1 | g.207611776G>A | CA344545135 | CR1 | c.6395G>A (p.Ser2132Asn) c.5045G>A (p.Ser1682Asn) c.1180-4799G>A c.6410G>A (p.Ser2137Asn) c.5060G>A (p.Ser1687Asn) | |
1 | g.207611776G>C | CA344545136 | CR1 | c.6395G>C (p.Ser2132Thr) c.5045G>C (p.Ser1682Thr) c.1180-4799G>C c.6410G>C (p.Ser2137Thr) c.5060G>C (p.Ser1687Thr) | dbSNP gnomAD v4 |
1 | g.207611776G= | CA2483456551 | CR1 | c.6395G= (p.Ser2132=) c.5045G= (p.Ser1682=) c.1180-4799G= c.6410G= (p.Ser2137=) c.5060G= (p.Ser1687=) | |
1 | g.207611776G>T | CA344545137 | CR1 | c.6395G>T (p.Ser2132Ile) c.5045G>T (p.Ser1682Ile) c.1180-4799G>T c.6410G>T (p.Ser2137Ile) c.5060G>T (p.Ser1687Ile) | |
1 | g.207611777C>A | CA344545139 | CR1 | c.6396C>A (p.Ser2132Arg) c.5046C>A (p.Ser1682Arg) c.1180-4798C>A c.6411C>A (p.Ser2137Arg) c.5061C>A (p.Ser1687Arg) | |
1 | g.207611777C= | CA2483456552 | CR1 | c.6396C= (p.Ser2132=) c.5046C= (p.Ser1682=) c.1180-4798C= c.6411C= (p.Ser2137=) c.5061C= (p.Ser1687=) | |
1 | g.207611777C>G | CA344545138 | CR1 | c.6396C>G (p.Ser2132Arg) c.5046C>G (p.Ser1682Arg) c.1180-4798C>G c.6411C>G (p.Ser2137Arg) c.5061C>G (p.Ser1687Arg) | |
1 | g.207611777C>T | CA1370431 | CR1 | c.6396C>T (p.Ser2132=) c.5046C>T (p.Ser1682=) c.1180-4798C>T c.6411C>T (p.Ser2137=) c.5061C>T (p.Ser1687=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611778T>A | CA344545140 | CR1 | c.6397T>A (p.Tyr2133Asn) c.5047T>A (p.Tyr1683Asn) c.1180-4797T>A c.6412T>A (p.Tyr2138Asn) c.5062T>A (p.Tyr1688Asn) | |
1 | g.207611778T>C | CA344545141 | CR1 | c.6397T>C (p.Tyr2133His) c.5047T>C (p.Tyr1683His) c.1180-4797T>C c.6412T>C (p.Tyr2138His) c.5062T>C (p.Tyr1688His) | |
1 | g.207611778T>G | CA344545142 | CR1 | c.6397T>G (p.Tyr2133Asp) c.5047T>G (p.Tyr1683Asp) c.1180-4797T>G c.6412T>G (p.Tyr2138Asp) c.5062T>G (p.Tyr1688Asp) | |
1 | g.207611779A= | CA2483456553 | CR1 | c.6398A= (p.Tyr2133=) c.5048A= (p.Tyr1683=) c.1180-4796A= c.6413A= (p.Tyr2138=) c.5063A= (p.Tyr1688=) | |
1 | g.207611779A>C | CA344545143 | CR1 | c.6398A>C (p.Tyr2133Ser) c.5048A>C (p.Tyr1683Ser) c.1180-4796A>C c.6413A>C (p.Tyr2138Ser) c.5063A>C (p.Tyr1688Ser) | |
1 | g.207611779A>G | CA344545144 | CR1 | c.6398A>G (p.Tyr2133Cys) c.5048A>G (p.Tyr1683Cys) c.1180-4796A>G c.6413A>G (p.Tyr2138Cys) c.5063A>G (p.Tyr1688Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611779A>T | CA344545145 | CR1 | c.6398A>T (p.Tyr2133Phe) c.5048A>T (p.Tyr1683Phe) c.1180-4796A>T c.6413A>T (p.Tyr2138Phe) c.5063A>T (p.Tyr1688Phe) | |
1 | g.207611780T>A | CA344545146 | CR1 | c.6399T>A (p.Tyr2133Ter) c.5049T>A (p.Tyr1683Ter) c.1180-4795T>A c.6414T>A (p.Tyr2138Ter) c.5064T>A (p.Tyr1688Ter) | |
1 | g.207611780T>C | CA422972963 | CR1 | c.6399T>C (p.Tyr2133=) c.5049T>C (p.Tyr1683=) c.1180-4795T>C c.6414T>C (p.Tyr2138=) c.5064T>C (p.Tyr1688=) | gnomAD v4 |
1 | g.207611780T>G | CA344545147 | CR1 | c.6399T>G (p.Tyr2133Ter) c.5049T>G (p.Tyr1683Ter) c.1180-4795T>G c.6414T>G (p.Tyr2138Ter) c.5064T>G (p.Tyr1688Ter) | |
1 | g.207611781G>A | CA344545148 | CR1 | c.6400G>A (p.Asp2134Asn) c.5050G>A (p.Asp1684Asn) c.1180-4794G>A c.6415G>A (p.Asp2139Asn) c.5065G>A (p.Asp1689Asn) | |
1 | g.207611781G>C | CA344545149 | CR1 | c.6400G>C (p.Asp2134His) c.5050G>C (p.Asp1684His) c.1180-4794G>C c.6415G>C (p.Asp2139His) c.5065G>C (p.Asp1689His) | |
1 | g.207611781G= | CA2483456554 | CR1 | c.6400G= (p.Asp2134=) c.5050G= (p.Asp1684=) c.1180-4794G= c.6415G= (p.Asp2139=) c.5065G= (p.Asp1689=) | |
1 | g.207611781G>T | CA1370432 | CR1 | c.6400G>T (p.Asp2134Tyr) c.5050G>T (p.Asp1684Tyr) c.1180-4794G>T c.6415G>T (p.Asp2139Tyr) c.5065G>T (p.Asp1689Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611782A= | CA1146972848 | CR1 | c.6401A= (p.Asp2134=) c.5051A= (p.Asp1684=) c.1180-4793A= c.6416A= (p.Asp2139=) c.5066A= (p.Asp1689=) | |
1 | g.207611782A>C | CA344545151 | CR1 | c.6401A>C (p.Asp2134Ala) c.5051A>C (p.Asp1684Ala) c.1180-4793A>C c.6416A>C (p.Asp2139Ala) c.5066A>C (p.Asp1689Ala) | |
1 | g.207611782A>G | CA1370433 | CR1 | c.6401A>G (p.Asp2134Gly) c.5051A>G (p.Asp1684Gly) c.1180-4793A>G c.6416A>G (p.Asp2139Gly) c.5066A>G (p.Asp1689Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611782A>T | CA344545150 | CR1 | c.6401A>T (p.Asp2134Val) c.5051A>T (p.Asp1684Val) c.1180-4793A>T c.6416A>T (p.Asp2139Val) c.5066A>T (p.Asp1689Val) | dbSNP |
1 | g.207611783C>A | CA344545152 | CR1 | c.6402C>A (p.Asp2134Glu) c.5052C>A (p.Asp1684Glu) c.1180-4792C>A c.6417C>A (p.Asp2139Glu) c.5067C>A (p.Asp1689Glu) | |
1 | g.207611783C>G | CA344545153 | CR1 | c.6402C>G (p.Asp2134Glu) c.5052C>G (p.Asp1684Glu) c.1180-4792C>G c.6417C>G (p.Asp2139Glu) c.5067C>G (p.Asp1689Glu) | |
1 | g.207611783C>T | CA422972971 | CR1 | c.6402C>T (p.Asp2134=) c.5052C>T (p.Asp1684=) c.1180-4792C>T c.6417C>T (p.Asp2139=) c.5067C>T (p.Asp1689=) | gnomAD v4 |
1 | g.207611784C>A | CA344545154 | CR1 | c.6403C>A (p.Leu2135Ile) c.5053C>A (p.Leu1685Ile) c.1180-4791C>A c.6418C>A (p.Leu2140Ile) c.5068C>A (p.Leu1690Ile) | |
1 | g.207611784C>G | CA344545155 | CR1 | c.6403C>G (p.Leu2135Val) c.5053C>G (p.Leu1685Val) c.1180-4791C>G c.6418C>G (p.Leu2140Val) c.5068C>G (p.Leu1690Val) | |
1 | g.207611784C>T | CA344545156 | CR1 | c.6403C>T (p.Leu2135Phe) c.5053C>T (p.Leu1685Phe) c.1180-4791C>T c.6418C>T (p.Leu2140Phe) c.5068C>T (p.Leu1690Phe) | |
1 | g.207611785T>A | CA344545157 | CR1 | c.6404T>A (p.Leu2135His) c.5054T>A (p.Leu1685His) c.1180-4790T>A c.6419T>A (p.Leu2140His) c.5069T>A (p.Leu1690His) | |
1 | g.207611785T>C | CA344545158 | CR1 | c.6404T>C (p.Leu2135Pro) c.5054T>C (p.Leu1685Pro) c.1180-4790T>C c.6419T>C (p.Leu2140Pro) c.5069T>C (p.Leu1690Pro) | |
1 | g.207611785T>G | CA344545159 | CR1 | c.6404T>G (p.Leu2135Arg) c.5054T>G (p.Leu1685Arg) c.1180-4790T>G c.6419T>G (p.Leu2140Arg) c.5069T>G (p.Leu1690Arg) | |
1 | g.207611786C>A | CA422972979 | CR1 | c.6405C>A (p.Leu2135=) c.5055C>A (p.Leu1685=) c.1180-4789C>A c.6420C>A (p.Leu2140=) c.5070C>A (p.Leu1690=) | COSMIC COSMIC |
1 | g.207611786C= | CA2483456555 | CR1 | c.6405C= (p.Leu2135=) c.5055C= (p.Leu1685=) c.1180-4789C= c.6420C= (p.Leu2140=) c.5070C= (p.Leu1690=) | |
1 | g.207611786C>G | CA422972977 | CR1 | c.6405C>G (p.Leu2135=) c.5055C>G (p.Leu1685=) c.1180-4789C>G c.6420C>G (p.Leu2140=) c.5070C>G (p.Leu1690=) | |
1 | g.207611786C>T | CA1370434 | CR1 | c.6405C>T (p.Leu2135=) c.5055C>T (p.Leu1685=) c.1180-4789C>T c.6420C>T (p.Leu2140=) c.5070C>T (p.Leu1690=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611787A>C | CA422972980 | CR1 | c.6406A>C (p.Arg2136=) c.5056A>C (p.Arg1686=) c.1180-4788A>C c.6421A>C (p.Arg2141=) c.5071A>C (p.Arg1691=) | |
1 | g.207611787A>G | CA344545160 | CR1 | c.6406A>G (p.Arg2136Gly) c.5056A>G (p.Arg1686Gly) c.1180-4788A>G c.6421A>G (p.Arg2141Gly) c.5071A>G (p.Arg1691Gly) | |
1 | g.207611787A>T | CA344545161 | CR1 | c.6406A>T (p.Arg2136Ter) c.5056A>T (p.Arg1686Ter) c.1180-4788A>T c.6421A>T (p.Arg2141Ter) c.5071A>T (p.Arg1691Ter) | |
1 | g.207611788G>A | CA344545162 | CR1 | c.6407G>A (p.Arg2136Lys) c.5057G>A (p.Arg1686Lys) c.1180-4787G>A c.6422G>A (p.Arg2141Lys) c.5072G>A (p.Arg1691Lys) | |
1 | g.207611788G>C | CA344545163 | CR1 | c.6407G>C (p.Arg2136Thr) c.5057G>C (p.Arg1686Thr) c.1180-4787G>C c.6422G>C (p.Arg2141Thr) c.5072G>C (p.Arg1691Thr) | |
1 | g.207611788G>T | CA344545164 | CR1 | c.6407G>T (p.Arg2136Ile) c.5057G>T (p.Arg1686Ile) c.1180-4787G>T c.6422G>T (p.Arg2141Ile) c.5072G>T (p.Arg1691Ile) | |
1 | g.207611789A= | CA2483456556 | CR1 | c.6408A= (p.Arg2136=) c.5058A= (p.Arg1686=) c.1180-4786A= c.6423A= (p.Arg2141=) c.5073A= (p.Arg1691=) | |
1 | g.207611789A>C | CA344545165 | CR1 | c.6408A>C (p.Arg2136Ser) c.5058A>C (p.Arg1686Ser) c.1180-4786A>C c.6423A>C (p.Arg2141Ser) c.5073A>C (p.Arg1691Ser) | |
1 | g.207611789A>G | CA422972983 | CR1 | c.6408A>G (p.Arg2136=) c.5058A>G (p.Arg1686=) c.1180-4786A>G c.6423A>G (p.Arg2141=) c.5073A>G (p.Arg1691=) | |
1 | g.207611789A>T | CA344545166 | CR1 | c.6408A>T (p.Arg2136Ser) c.5058A>T (p.Arg1686Ser) c.1180-4786A>T c.6423A>T (p.Arg2141Ser) c.5073A>T (p.Arg1691Ser) | |
1 | g.207611790G>A | CA344545167 | CR1 | c.6409G>A (p.Gly2137Arg) c.5059G>A (p.Gly1687Arg) c.1180-4785G>A c.6424G>A (p.Gly2142Arg) c.5074G>A (p.Gly1692Arg) | gnomAD v4 |
1 | g.207611790G>C | CA36655222 | CR1 | c.6409G>C (p.Gly2137Arg) c.5059G>C (p.Gly1687Arg) c.1180-4785G>C c.6424G>C (p.Gly2142Arg) c.5074G>C (p.Gly1692Arg) | dbSNP gnomAD v4 |
1 | g.207611790G= | CA2483456557 | CR1 | c.6409G= (p.Gly2137=) c.5059G= (p.Gly1687=) c.1180-4785G= c.6424G= (p.Gly2142=) c.5074G= (p.Gly1692=) | |
1 | g.207611790G>T | CA344545168 | CR1 | c.6409G>T (p.Gly2137Trp) c.5059G>T (p.Gly1687Trp) c.1180-4785G>T c.6424G>T (p.Gly2142Trp) c.5074G>T (p.Gly1692Trp) | |
1 | g.207611790_207611793delinsGGGG | CA1140518296 | CR1 | c.6409_6412delinsGGGG (p.Gly2137=) c.5059_5062delinsGGGG (p.Gly1687=) c.1180-4785_1180-4782delinsGGGG c.6424_6427delinsGGGG (p.Gly2142=) c.5074_5077delinsGGGG (p.Gly1692=) | |
1 | g.207611793dup | CA36655221 | CR1 | c.6412dup (p.Ala2138GlyfsTer15) c.5062dup (p.Ala1688GlyfsTer15) c.1180-4782dup c.6427dup (p.Ala2143GlyfsTer15) c.5077dup (p.Ala1693GlyfsTer15) | dbSNP |
1 | g.207611791G>A | CA1370435 | CR1 | c.6410G>A (p.Gly2137Glu) c.5060G>A (p.Gly1687Glu) c.1180-4784G>A c.6425G>A (p.Gly2142Glu) c.5075G>A (p.Gly1692Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611791G>C | CA344545169 | CR1 | c.6410G>C (p.Gly2137Ala) c.5060G>C (p.Gly1687Ala) c.1180-4784G>C c.6425G>C (p.Gly2142Ala) c.5075G>C (p.Gly1692Ala) | |
1 | g.207611791G= | CA2483456558 | CR1 | c.6410G= (p.Gly2137=) c.5060G= (p.Gly1687=) c.1180-4784G= c.6425G= (p.Gly2142=) c.5075G= (p.Gly1692=) | |
1 | g.207611791G>T | CA344545170 | CR1 | c.6410G>T (p.Gly2137Val) c.5060G>T (p.Gly1687Val) c.1180-4784G>T c.6425G>T (p.Gly2142Val) c.5075G>T (p.Gly1692Val) | |
1 | g.207611792G>A | CA422972991 | CR1 | c.6411G>A (p.Gly2137=) c.5061G>A (p.Gly1687=) c.1180-4783G>A c.6426G>A (p.Gly2142=) c.5076G>A (p.Gly1692=) | |
1 | g.207611792G>C | CA422972993 | CR1 | c.6411G>C (p.Gly2137=) c.5061G>C (p.Gly1687=) c.1180-4783G>C c.6426G>C (p.Gly2142=) c.5076G>C (p.Gly1692=) | |
1 | g.207611792G>T | CA422972994 | CR1 | c.6411G>T (p.Gly2137=) c.5061G>T (p.Gly1687=) c.1180-4783G>T c.6426G>T (p.Gly2142=) c.5076G>T (p.Gly1692=) | |
1 | g.207611793G>A | CA344545171 | CR1 | c.6412G>A (p.Ala2138Thr) c.5062G>A (p.Ala1688Thr) c.1180-4782G>A c.6427G>A (p.Ala2143Thr) c.5077G>A (p.Ala1693Thr) | dbSNP gnomAD v4 |
1 | g.207611793G>C | CA344545172 | CR1 | c.6412G>C (p.Ala2138Pro) c.5062G>C (p.Ala1688Pro) c.1180-4782G>C c.6427G>C (p.Ala2143Pro) c.5077G>C (p.Ala1693Pro) | |
1 | g.207611793G= | CA2483456559 | CR1 | c.6412G= (p.Ala2138=) c.5062G= (p.Ala1688=) c.1180-4782G= c.6427G= (p.Ala2143=) c.5077G= (p.Ala1693=) | |
1 | g.207611793G>T | CA344545173 | CR1 | c.6412G>T (p.Ala2138Ser) c.5062G>T (p.Ala1688Ser) c.1180-4782G>T c.6427G>T (p.Ala2143Ser) c.5077G>T (p.Ala1693Ser) | |
1 | g.207611794C>A | CA344545174 | CR1 | c.6413C>A (p.Ala2138Asp) c.5063C>A (p.Ala1688Asp) c.1180-4781C>A c.6428C>A (p.Ala2143Asp) c.5078C>A (p.Ala1693Asp) | |
1 | g.207611794C>G | CA344545175 | CR1 | c.6413C>G (p.Ala2138Gly) c.5063C>G (p.Ala1688Gly) c.1180-4781C>G c.6428C>G (p.Ala2143Gly) c.5078C>G (p.Ala1693Gly) | |
1 | g.207611794C>T | CA344545176 | CR1 | c.6413C>T (p.Ala2138Val) c.5063C>T (p.Ala1688Val) c.1180-4781C>T c.6428C>T (p.Ala2143Val) c.5078C>T (p.Ala1693Val) | |
1 | g.207611795T>A | CA422973002 | CR1 | c.6414T>A (p.Ala2138=) c.5064T>A (p.Ala1688=) c.1180-4780T>A c.6429T>A (p.Ala2143=) c.5079T>A (p.Ala1693=) | |
1 | g.207611795T>C | CA422973003 | CR1 | c.6414T>C (p.Ala2138=) c.5064T>C (p.Ala1688=) c.1180-4780T>C c.6429T>C (p.Ala2143=) c.5079T>C (p.Ala1693=) | |
1 | g.207611795T>G | CA422973001 | CR1 | c.6414T>G (p.Ala2138=) c.5064T>G (p.Ala1688=) c.1180-4780T>G c.6429T>G (p.Ala2143=) c.5079T>G (p.Ala1693=) | |
1 | g.207611796G>A | CA36655224 | CR1 | c.6415G>A (p.Ala2139Thr) c.5065G>A (p.Ala1689Thr) c.1180-4779G>A c.6430G>A (p.Ala2144Thr) c.5080G>A (p.Ala1694Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611796G>C | CA344545177 | CR1 | c.6415G>C (p.Ala2139Pro) c.5065G>C (p.Ala1689Pro) c.1180-4779G>C c.6430G>C (p.Ala2144Pro) c.5080G>C (p.Ala1694Pro) | |
1 | g.207611796G= | CA2483456560 | CR1 | c.6415G= (p.Ala2139=) c.5065G= (p.Ala1689=) c.1180-4779G= c.6430G= (p.Ala2144=) c.5080G= (p.Ala1694=) | |
1 | g.207611796G>T | CA344545178 | CR1 | c.6415G>T (p.Ala2139Ser) c.5065G>T (p.Ala1689Ser) c.1180-4779G>T c.6430G>T (p.Ala2144Ser) c.5080G>T (p.Ala1694Ser) | |
1 | g.207611797C>A | CA344545179 | CR1 | c.6416C>A (p.Ala2139Glu) c.5066C>A (p.Ala1689Glu) c.1180-4778C>A c.6431C>A (p.Ala2144Glu) c.5081C>A (p.Ala1694Glu) | |
1 | g.207611797C= | CA2483456561 | CR1 | c.6416C= (p.Ala2139=) c.5066C= (p.Ala1689=) c.1180-4778C= c.6431C= (p.Ala2144=) c.5081C= (p.Ala1694=) | |
1 | g.207611797C>G | CA344545180 | CR1 | c.6416C>G (p.Ala2139Gly) c.5066C>G (p.Ala1689Gly) c.1180-4778C>G c.6431C>G (p.Ala2144Gly) c.5081C>G (p.Ala1694Gly) | |
1 | g.207611797C>T | CA1370436 | CR1 | c.6416C>T (p.Ala2139Val) c.5066C>T (p.Ala1689Val) c.1180-4778C>T c.6431C>T (p.Ala2144Val) c.5081C>T (p.Ala1694Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611798G>A | CA422973010 | CR1 | c.6417G>A (p.Ala2139=) c.5067G>A (p.Ala1689=) c.1180-4777G>A c.6432G>A (p.Ala2144=) c.5082G>A (p.Ala1694=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611798G>C | CA422973011 | CR1 | c.6417G>C (p.Ala2139=) c.5067G>C (p.Ala1689=) c.1180-4777G>C c.6432G>C (p.Ala2144=) c.5082G>C (p.Ala1694=) | |
1 | g.207611798G= | CA2483456562 | CR1 | c.6417G= (p.Ala2139=) c.5067G= (p.Ala1689=) c.1180-4777G= c.6432G= (p.Ala2144=) c.5082G= (p.Ala1694=) | |
1 | g.207611798G>T | CA422973013 | CR1 | c.6417G>T (p.Ala2139=) c.5067G>T (p.Ala1689=) c.1180-4777G>T c.6432G>T (p.Ala2144=) c.5082G>T (p.Ala1694=) | |
1 | g.207611799T>A | CA344545181 | CR1 | c.6418T>A (p.Ser2140Thr) c.5068T>A (p.Ser1690Thr) c.1180-4776T>A c.6433T>A (p.Ser2145Thr) c.5083T>A (p.Ser1695Thr) | |
1 | g.207611799T>C | CA344545182 | CR1 | c.6418T>C (p.Ser2140Pro) c.5068T>C (p.Ser1690Pro) c.1180-4776T>C c.6433T>C (p.Ser2145Pro) c.5083T>C (p.Ser1695Pro) | dbSNP gnomAD v4 |
1 | g.207611799T>G | CA344545183 | CR1 | c.6418T>G (p.Ser2140Ala) c.5068T>G (p.Ser1690Ala) c.1180-4776T>G c.6433T>G (p.Ser2145Ala) c.5083T>G (p.Ser1695Ala) | |
1 | g.207611799T= | CA2483456563 | CR1 | c.6418T= (p.Ser2140=) c.5068T= (p.Ser1690=) c.1180-4776T= c.6433T= (p.Ser2145=) c.5083T= (p.Ser1695=) | |
1 | g.207611800C>A | CA344545184 | CR1 | c.6419C>A (p.Ser2140Tyr) c.5069C>A (p.Ser1690Tyr) c.1180-4775C>A c.6434C>A (p.Ser2145Tyr) c.5084C>A (p.Ser1695Tyr) | |
1 | g.207611800C= | CA2483456564 | CR1 | c.6419C= (p.Ser2140=) c.5069C= (p.Ser1690=) c.1180-4775C= c.6434C= (p.Ser2145=) c.5084C= (p.Ser1695=) | |
1 | g.207611800C>G | CA1370437 | CR1 | c.6419C>G (p.Ser2140Cys) c.5069C>G (p.Ser1690Cys) c.1180-4775C>G c.6434C>G (p.Ser2145Cys) c.5084C>G (p.Ser1695Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611800C>T | CA1370438 | CR1 | c.6419C>T (p.Ser2140Phe) c.5069C>T (p.Ser1690Phe) c.1180-4775C>T c.6434C>T (p.Ser2145Phe) c.5084C>T (p.Ser1695Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611801T>A | CA422973022 | CR1 | c.6420T>A (p.Ser2140=) c.5070T>A (p.Ser1690=) c.1180-4774T>A c.6435T>A (p.Ser2145=) c.5085T>A (p.Ser1695=) | |
1 | g.207611801T>C | CA422973023 | CR1 | c.6420T>C (p.Ser2140=) c.5070T>C (p.Ser1690=) c.1180-4774T>C c.6435T>C (p.Ser2145=) c.5085T>C (p.Ser1695=) | |
1 | g.207611801T>G | CA422973025 | CR1 | c.6420T>G (p.Ser2140=) c.5070T>G (p.Ser1690=) c.1180-4774T>G c.6435T>G (p.Ser2145=) c.5085T>G (p.Ser1695=) | |
1 | g.207611802C>A | CA344545185 | CR1 | c.6421C>A (p.Leu2141Met) c.5071C>A (p.Leu1691Met) c.1180-4773C>A c.6436C>A (p.Leu2146Met) c.5086C>A (p.Leu1696Met) | COSMIC COSMIC |
1 | g.207611802C= | CA2483456565 | CR1 | c.6421C= (p.Leu2141=) c.5071C= (p.Leu1691=) c.1180-4773C= c.6436C= (p.Leu2146=) c.5086C= (p.Leu1696=) | |
1 | g.207611802C>G | CA344545186 | CR1 | c.6421C>G (p.Leu2141Val) c.5071C>G (p.Leu1691Val) c.1180-4773C>G c.6436C>G (p.Leu2146Val) c.5086C>G (p.Leu1696Val) | |
1 | g.207611802C>T | CA422973028 | CR1 | c.6421C>T (p.Leu2141=) c.5071C>T (p.Leu1691=) c.1180-4773C>T c.6436C>T (p.Leu2146=) c.5086C>T (p.Leu1696=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611803T>A | CA344545187 | CR1 | c.6422T>A (p.Leu2141Gln) c.5072T>A (p.Leu1691Gln) c.1180-4772T>A c.6437T>A (p.Leu2146Gln) c.5087T>A (p.Leu1696Gln) | |
1 | g.207611803T>C | CA344545188 | CR1 | c.6422T>C (p.Leu2141Pro) c.5072T>C (p.Leu1691Pro) c.1180-4772T>C c.6437T>C (p.Leu2146Pro) c.5087T>C (p.Leu1696Pro) | |
1 | g.207611803T>G | CA344545189 | CR1 | c.6422T>G (p.Leu2141Arg) c.5072T>G (p.Leu1691Arg) c.1180-4772T>G c.6437T>G (p.Leu2146Arg) c.5087T>G (p.Leu1696Arg) | gnomAD v4 |
1 | g.207611804G>A | CA422973032 | CR1 | c.6423G>A (p.Leu2141=) c.5073G>A (p.Leu1691=) c.1180-4771G>A c.6438G>A (p.Leu2146=) c.5088G>A (p.Leu1696=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611804G>C | CA422973034 | CR1 | c.6423G>C (p.Leu2141=) c.5073G>C (p.Leu1691=) c.1180-4771G>C c.6438G>C (p.Leu2146=) c.5088G>C (p.Leu1696=) | |
1 | g.207611804G= | CA2483456566 | CR1 | c.6423G= (p.Leu2141=) c.5073G= (p.Leu1691=) c.1180-4771G= c.6438G= (p.Leu2146=) c.5088G= (p.Leu1696=) | |
1 | g.207611804G>T | CA422973037 | CR1 | c.6423G>T (p.Leu2141=) c.5073G>T (p.Leu1691=) c.1180-4771G>T c.6438G>T (p.Leu2146=) c.5088G>T (p.Leu1696=) | |
1 | g.207611805C>A | CA344545192 | CR1 | c.6424C>A (p.His2142Asn) c.5074C>A (p.His1692Asn) c.1180-4770C>A c.6439C>A (p.His2147Asn) c.5089C>A (p.His1697Asn) | |
1 | g.207611805C>G | CA344545191 | CR1 | c.6424C>G (p.His2142Asp) c.5074C>G (p.His1692Asp) c.1180-4770C>G c.6439C>G (p.His2147Asp) c.5089C>G (p.His1697Asp) | |
1 | g.207611805C>T | CA344545190 | CR1 | c.6424C>T (p.His2142Tyr) c.5074C>T (p.His1692Tyr) c.1180-4770C>T c.6439C>T (p.His2147Tyr) c.5089C>T (p.His1697Tyr) | |
1 | g.207611806A>C | CA344545193 | CR1 | c.6425A>C (p.His2142Pro) c.5075A>C (p.His1692Pro) c.1180-4769A>C c.6440A>C (p.His2147Pro) c.5090A>C (p.His1697Pro) | |
1 | g.207611806A>G | CA344545194 | CR1 | c.6425A>G (p.His2142Arg) c.5075A>G (p.His1692Arg) c.1180-4769A>G c.6440A>G (p.His2147Arg) c.5090A>G (p.His1697Arg) | |
1 | g.207611806A>T | CA344545195 | CR1 | c.6425A>T (p.His2142Leu) c.5075A>T (p.His1692Leu) c.1180-4769A>T c.6440A>T (p.His2147Leu) c.5090A>T (p.His1697Leu) | |
1 | g.207611807C>A | CA344545196 | CR1 | c.6426C>A (p.His2142Gln) c.5076C>A (p.His1692Gln) c.1180-4768C>A c.6441C>A (p.His2147Gln) c.5091C>A (p.His1697Gln) | |
1 | g.207611807C= | CA2483456567 | CR1 | c.6426C= (p.His2142=) c.5076C= (p.His1692=) c.1180-4768C= c.6441C= (p.His2147=) c.5091C= (p.His1697=) | |
1 | g.207611807C>G | CA344545197 | CR1 | c.6426C>G (p.His2142Gln) c.5076C>G (p.His1692Gln) c.1180-4768C>G c.6441C>G (p.His2147Gln) c.5091C>G (p.His1697Gln) | |
1 | g.207611807C>T | CA1370439 | CR1 | c.6426C>T (p.His2142=) c.5076C>T (p.His1692=) c.1180-4768C>T c.6441C>T (p.His2147=) c.5091C>T (p.His1697=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611808T>A | CA344545198 | CR1 | c.6427T>A (p.Cys2143Ser) c.5077T>A (p.Cys1693Ser) c.1180-4767T>A c.6442T>A (p.Cys2148Ser) c.5092T>A (p.Cys1698Ser) | COSMIC COSMIC |
1 | g.207611808T>C | CA1370440 | CR1 | c.6427T>C (p.Cys2143Arg) c.5077T>C (p.Cys1693Arg) c.1180-4767T>C c.6442T>C (p.Cys2148Arg) c.5092T>C (p.Cys1698Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611808T>G | CA344545199 | CR1 | c.6427T>G (p.Cys2143Gly) c.5077T>G (p.Cys1693Gly) c.1180-4767T>G c.6442T>G (p.Cys2148Gly) c.5092T>G (p.Cys1698Gly) | |
1 | g.207611808T= | CA2483456568 | CR1 | c.6427T= (p.Cys2143=) c.5077T= (p.Cys1693=) c.1180-4767T= c.6442T= (p.Cys2148=) c.5092T= (p.Cys1698=) | |
1 | g.207611809G>A | CA344545200 | CR1 | c.6428G>A (p.Cys2143Tyr) c.5078G>A (p.Cys1693Tyr) c.1180-4766G>A c.6443G>A (p.Cys2148Tyr) c.5093G>A (p.Cys1698Tyr) | |
1 | g.207611809G>C | CA344545201 | CR1 | c.6428G>C (p.Cys2143Ser) c.5078G>C (p.Cys1693Ser) c.1180-4766G>C c.6443G>C (p.Cys2148Ser) c.5093G>C (p.Cys1698Ser) | |
1 | g.207611809G>T | CA344545202 | CR1 | c.6428G>T (p.Cys2143Phe) c.5078G>T (p.Cys1693Phe) c.1180-4766G>T c.6443G>T (p.Cys2148Phe) c.5093G>T (p.Cys1698Phe) | |
1 | g.207611810C>A | CA344545203 | CR1 | c.6429C>A (p.Cys2143Ter) c.5079C>A (p.Cys1693Ter) c.1180-4765C>A c.6444C>A (p.Cys2148Ter) c.5094C>A (p.Cys1698Ter) | |
1 | g.207611810C= | CA2483456569 | CR1 | c.6429C= (p.Cys2143=) c.5079C= (p.Cys1693=) c.1180-4765C= c.6444C= (p.Cys2148=) c.5094C= (p.Cys1698=) | |
1 | g.207611810C>G | CA344545204 | CR1 | c.6429C>G (p.Cys2143Trp) c.5079C>G (p.Cys1693Trp) c.1180-4765C>G c.6444C>G (p.Cys2148Trp) c.5094C>G (p.Cys1698Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611810C>T | CA422973053 | CR1 | c.6429C>T (p.Cys2143=) c.5079C>T (p.Cys1693=) c.1180-4765C>T c.6444C>T (p.Cys2148=) c.5094C>T (p.Cys1698=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611811A>C | CA344545206 | CR1 | c.6430A>C (p.Thr2144Pro) c.5080A>C (p.Thr1694Pro) c.1180-4764A>C c.6445A>C (p.Thr2149Pro) c.5095A>C (p.Thr1699Pro) | |
1 | g.207611811A>G | CA344545207 | CR1 | c.6430A>G (p.Thr2144Ala) c.5080A>G (p.Thr1694Ala) c.1180-4764A>G c.6445A>G (p.Thr2149Ala) c.5095A>G (p.Thr1699Ala) | ClinVar |
1 | g.207611811A>T | CA344545205 | CR1 | c.6430A>T (p.Thr2144Ser) c.5080A>T (p.Thr1694Ser) c.1180-4764A>T c.6445A>T (p.Thr2149Ser) c.5095A>T (p.Thr1699Ser) | |
1 | g.207611812C>A | CA344545208 | CR1 | c.6431C>A (p.Thr2144Lys) c.5081C>A (p.Thr1694Lys) c.1180-4763C>A c.6446C>A (p.Thr2149Lys) c.5096C>A (p.Thr1699Lys) | dbSNP gnomAD v4 |
1 | g.207611812C= | CA1143725981 | CR1 | c.6431C= (p.Thr2144=) c.5081C= (p.Thr1694=) c.1180-4763C= c.6446C= (p.Thr2149=) c.5096C= (p.Thr1699=) | |
1 | g.207611812C>G | CA344545209 | CR1 | c.6431C>G (p.Thr2144Arg) c.5081C>G (p.Thr1694Arg) c.1180-4763C>G c.6446C>G (p.Thr2149Arg) c.5096C>G (p.Thr1699Arg) | |
1 | g.207611812C>T | CA1370441 | CR1 | c.6431C>T (p.Thr2144Met) c.5081C>T (p.Thr1694Met) c.1180-4763C>T c.6446C>T (p.Thr2149Met) c.5096C>T (p.Thr1699Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611813G>A | CA1370442 | CR1 | c.6432G>A (p.Thr2144=) c.5082G>A (p.Thr1694=) c.1180-4762G>A c.6447G>A (p.Thr2149=) c.5097G>A (p.Thr1699=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611813G>C | CA422973060 | CR1 | c.6432G>C (p.Thr2144=) c.5082G>C (p.Thr1694=) c.1180-4762G>C c.6447G>C (p.Thr2149=) c.5097G>C (p.Thr1699=) | |
1 | g.207611813G= | CA1143950609 | CR1 | c.6432G= (p.Thr2144=) c.5082G= (p.Thr1694=) c.1180-4762G= c.6447G= (p.Thr2149=) c.5097G= (p.Thr1699=) | |
1 | g.207611813G>T | CA422973059 | CR1 | c.6432G>T (p.Thr2144=) c.5082G>T (p.Thr1694=) c.1180-4762G>T c.6447G>T (p.Thr2149=) c.5097G>T (p.Thr1699=) | |
1 | g.207611814C>A | CA344545210 | CR1 | c.6433C>A (p.Pro2145Thr) c.5083C>A (p.Pro1695Thr) c.1180-4761C>A c.6448C>A (p.Pro2150Thr) c.5098C>A (p.Pro1700Thr) | |
1 | g.207611814C>G | CA344545211 | CR1 | c.6433C>G (p.Pro2145Ala) c.5083C>G (p.Pro1695Ala) c.1180-4761C>G c.6448C>G (p.Pro2150Ala) c.5098C>G (p.Pro1700Ala) | |
1 | g.207611814C>T | CA344545212 | CR1 | c.6433C>T (p.Pro2145Ser) c.5083C>T (p.Pro1695Ser) c.1180-4761C>T c.6448C>T (p.Pro2150Ser) c.5098C>T (p.Pro1700Ser) | |
1 | g.207611815C>A | CA344545213 | CR1 | c.6434C>A (p.Pro2145His) c.5084C>A (p.Pro1695His) c.1180-4760C>A c.6449C>A (p.Pro2150His) c.5099C>A (p.Pro1700His) | COSMIC COSMIC |
1 | g.207611815C= | CA2483456570 | CR1 | c.6434C= (p.Pro2145=) c.5084C= (p.Pro1695=) c.1180-4760C= c.6449C= (p.Pro2150=) c.5099C= (p.Pro1700=) | |
1 | g.207611815C>G | CA344545214 | CR1 | c.6434C>G (p.Pro2145Arg) c.5084C>G (p.Pro1695Arg) c.1180-4760C>G c.6449C>G (p.Pro2150Arg) c.5099C>G (p.Pro1700Arg) | |
1 | g.207611815C>T | CA1370443 | CR1 | c.6434C>T (p.Pro2145Leu) c.5084C>T (p.Pro1695Leu) c.1180-4760C>T c.6449C>T (p.Pro2150Leu) c.5099C>T (p.Pro1700Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611816C>A | CA422973066 | CR1 | c.6435C>A (p.Pro2145=) c.5085C>A (p.Pro1695=) c.1180-4759C>A c.6450C>A (p.Pro2150=) c.5100C>A (p.Pro1700=) | |
1 | g.207611816C= | CA2483456571 | CR1 | c.6435C= (p.Pro2145=) c.5085C= (p.Pro1695=) c.1180-4759C= c.6450C= (p.Pro2150=) c.5100C= (p.Pro1700=) | |
1 | g.207611816C>G | CA422973068 | CR1 | c.6435C>G (p.Pro2145=) c.5085C>G (p.Pro1695=) c.1180-4759C>G c.6450C>G (p.Pro2150=) c.5100C>G (p.Pro1700=) | |
1 | g.207611816C>T | CA422973069 | CR1 | c.6435C>T (p.Pro2145=) c.5085C>T (p.Pro1695=) c.1180-4759C>T c.6450C>T (p.Pro2150=) c.5100C>T (p.Pro1700=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611817C>A | CA344545215 | CR1 | c.6436C>A (p.Gln2146Lys) c.5086C>A (p.Gln1696Lys) c.1180-4758C>A c.6451C>A (p.Gln2151Lys) c.5101C>A (p.Gln1701Lys) | |
1 | g.207611817C= | CA2483456572 | CR1 | c.6436C= (p.Gln2146=) c.5086C= (p.Gln1696=) c.1180-4758C= c.6451C= (p.Gln2151=) c.5101C= (p.Gln1701=) | |
1 | g.207611817C>G | CA344545216 | CR1 | c.6436C>G (p.Gln2146Glu) c.5086C>G (p.Gln1696Glu) c.1180-4758C>G c.6451C>G (p.Gln2151Glu) c.5101C>G (p.Gln1701Glu) | gnomAD v4 |
1 | g.207611817C>T | CA344545217 | CR1 | c.6436C>T (p.Gln2146Ter) c.5086C>T (p.Gln1696Ter) c.1180-4758C>T c.6451C>T (p.Gln2151Ter) c.5101C>T (p.Gln1701Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611818A= | CA2483456573 | CR1 | c.6437A= (p.Gln2146=) c.5087A= (p.Gln1696=) c.1180-4757A= c.6452A= (p.Gln2151=) c.5102A= (p.Gln1701=) | |
1 | g.207611818A>C | CA344545220 | CR1 | c.6437A>C (p.Gln2146Pro) c.5087A>C (p.Gln1696Pro) c.1180-4757A>C c.6452A>C (p.Gln2151Pro) c.5102A>C (p.Gln1701Pro) | |
1 | g.207611818A>G | CA344545218 | CR1 | c.6437A>G (p.Gln2146Arg) c.5087A>G (p.Gln1696Arg) c.1180-4757A>G c.6452A>G (p.Gln2151Arg) c.5102A>G (p.Gln1701Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611818A>T | CA344545219 | CR1 | c.6437A>T (p.Gln2146Leu) c.5087A>T (p.Gln1696Leu) c.1180-4757A>T c.6452A>T (p.Gln2151Leu) c.5102A>T (p.Gln1701Leu) | |
1 | g.207611819G>A | CA1370444 | CR1 | c.6438G>A (p.Gln2146=) c.5088G>A (p.Gln1696=) c.1180-4756G>A c.6453G>A (p.Gln2151=) c.5103G>A (p.Gln1701=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611819G>C | CA344545221 | CR1 | c.6438G>C (p.Gln2146His) c.5088G>C (p.Gln1696His) c.1180-4756G>C c.6453G>C (p.Gln2151His) c.5103G>C (p.Gln1701His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611819G= | CA1146107567 | CR1 | c.6438G= (p.Gln2146=) c.5088G= (p.Gln1696=) c.1180-4756G= c.6453G= (p.Gln2151=) c.5103G= (p.Gln1701=) | |
1 | g.207611819G>T | CA344545222 | CR1 | c.6438G>T (p.Gln2146His) c.5088G>T (p.Gln1696His) c.1180-4756G>T c.6453G>T (p.Gln2151His) c.5103G>T (p.Gln1701His) | |
1 | g.207611820G>A | CA344545223 | CR1 | c.6439G>A (p.Gly2147Arg) c.5089G>A (p.Gly1697Arg) c.1180-4755G>A c.6454G>A (p.Gly2152Arg) c.5104G>A (p.Gly1702Arg) | |
1 | g.207611820G>C | CA344545224 | CR1 | c.6439G>C (p.Gly2147Arg) c.5089G>C (p.Gly1697Arg) c.1180-4755G>C c.6454G>C (p.Gly2152Arg) c.5104G>C (p.Gly1702Arg) | COSMIC COSMIC |
1 | g.207611820G>T | CA344545225 | CR1 | c.6439G>T (p.Gly2147Ter) c.5089G>T (p.Gly1697Ter) c.1180-4755G>T c.6454G>T (p.Gly2152Ter) c.5104G>T (p.Gly1702Ter) | |
1 | g.207611821G>A | CA344545226 | CR1 | c.6440G>A (p.Gly2147Glu) c.5090G>A (p.Gly1697Glu) c.1180-4754G>A c.6455G>A (p.Gly2152Glu) c.5105G>A (p.Gly1702Glu) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.207611821G>C | CA344545227 | CR1 | c.6440G>C (p.Gly2147Ala) c.5090G>C (p.Gly1697Ala) c.1180-4754G>C c.6455G>C (p.Gly2152Ala) c.5105G>C (p.Gly1702Ala) | |
1 | g.207611821G= | CA2483456574 | CR1 | c.6440G= (p.Gly2147=) c.5090G= (p.Gly1697=) c.1180-4754G= c.6455G= (p.Gly2152=) c.5105G= (p.Gly1702=) | |
1 | g.207611821G>T | CA344545228 | CR1 | c.6440G>T (p.Gly2147Val) c.5090G>T (p.Gly1697Val) c.1180-4754G>T c.6455G>T (p.Gly2152Val) c.5105G>T (p.Gly1702Val) | |
1 | g.207611822A>C | CA422973092 | CR1 | c.6441A>C (p.Gly2147=) c.5091A>C (p.Gly1697=) c.1180-4753A>C c.6456A>C (p.Gly2152=) c.5106A>C (p.Gly1702=) | |
1 | g.207611822A>G | CA422973088 | CR1 | c.6441A>G (p.Gly2147=) c.5091A>G (p.Gly1697=) c.1180-4753A>G c.6456A>G (p.Gly2152=) c.5106A>G (p.Gly1702=) | |
1 | g.207611822A>T | CA422973091 | CR1 | c.6441A>T (p.Gly2147=) c.5091A>T (p.Gly1697=) c.1180-4753A>T c.6456A>T (p.Gly2152=) c.5106A>T (p.Gly1702=) | |
1 | g.207611823G>A | CA344545229 | CR1 | c.6442G>A (p.Asp2148Asn) c.5092G>A (p.Asp1698Asn) c.1180-4752G>A c.6457G>A (p.Asp2153Asn) c.5107G>A (p.Asp1703Asn) | |
1 | g.207611823G>C | CA344545230 | CR1 | c.6442G>C (p.Asp2148His) c.5092G>C (p.Asp1698His) c.1180-4752G>C c.6457G>C (p.Asp2153His) c.5107G>C (p.Asp1703His) | |
1 | g.207611823G>T | CA344545231 | CR1 | c.6442G>T (p.Asp2148Tyr) c.5092G>T (p.Asp1698Tyr) c.1180-4752G>T c.6457G>T (p.Asp2153Tyr) c.5107G>T (p.Asp1703Tyr) | |
1 | g.207611824A= | CA2483456575 | CR1 | c.6443A= (p.Asp2148=) c.5093A= (p.Asp1698=) c.1180-4751A= c.6458A= (p.Asp2153=) c.5108A= (p.Asp1703=) | |
1 | g.207611824A>C | CA344545232 | CR1 | c.6443A>C (p.Asp2148Ala) c.5093A>C (p.Asp1698Ala) c.1180-4751A>C c.6458A>C (p.Asp2153Ala) c.5108A>C (p.Asp1703Ala) | |
1 | g.207611824A>G | CA344545234 | CR1 | c.6443A>G (p.Asp2148Gly) c.5093A>G (p.Asp1698Gly) c.1180-4751A>G c.6458A>G (p.Asp2153Gly) c.5108A>G (p.Asp1703Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611824A>T | CA344545233 | CR1 | c.6443A>T (p.Asp2148Val) c.5093A>T (p.Asp1698Val) c.1180-4751A>T c.6458A>T (p.Asp2153Val) c.5108A>T (p.Asp1703Val) | |
1 | g.207611825C>A | CA344545235 | CR1 | c.6444C>A (p.Asp2148Glu) c.5094C>A (p.Asp1698Glu) c.1180-4750C>A c.6459C>A (p.Asp2153Glu) c.5109C>A (p.Asp1703Glu) | |
1 | g.207611825C>G | CA344545236 | CR1 | c.6444C>G (p.Asp2148Glu) c.5094C>G (p.Asp1698Glu) c.1180-4750C>G c.6459C>G (p.Asp2153Glu) c.5109C>G (p.Asp1703Glu) | |
1 | g.207611825C>T | CA422973105 | CR1 | c.6444C>T (p.Asp2148=) c.5094C>T (p.Asp1698=) c.1180-4750C>T c.6459C>T (p.Asp2153=) c.5109C>T (p.Asp1703=) | |
1 | g.207611828_207611835dup | CA2527680478 | CR1 | c.6447_6454dup (p.Glu2152GlyfsTer10) c.5097_5104dup (p.Glu1702GlyfsTer10) c.1180-4747_1180-4740dup c.6462_6469dup (p.Glu2157GlyfsTer10) c.5112_5119dup (p.Glu1707GlyfsTer10) | |
1 | g.207611826T>A | CA344545237 | CR1 | c.6445T>A (p.Trp2149Arg) c.5095T>A (p.Trp1699Arg) c.1180-4749T>A c.6460T>A (p.Trp2154Arg) c.5110T>A (p.Trp1704Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611826T>C | CA344545238 | CR1 | c.6445T>C (p.Trp2149Arg) c.5095T>C (p.Trp1699Arg) c.1180-4749T>C c.6460T>C (p.Trp2154Arg) c.5110T>C (p.Trp1704Arg) | |
1 | g.207611826T>G | CA344545239 | CR1 | c.6445T>G (p.Trp2149Gly) c.5095T>G (p.Trp1699Gly) c.1180-4749T>G c.6460T>G (p.Trp2154Gly) c.5110T>G (p.Trp1704Gly) | |
1 | g.207611826T= | CA2483456576 | CR1 | c.6445T= (p.Trp2149=) c.5095T= (p.Trp1699=) c.1180-4749T= c.6460T= (p.Trp2154=) c.5110T= (p.Trp1704=) | |
1 | g.207611827G>A | CA344545242 | CR1 | c.6446G>A (p.Trp2149Ter) c.5096G>A (p.Trp1699Ter) c.1180-4748G>A c.6461G>A (p.Trp2154Ter) c.5111G>A (p.Trp1704Ter) | |
1 | g.207611827G>C | CA344545241 | CR1 | c.6446G>C (p.Trp2149Ser) c.5096G>C (p.Trp1699Ser) c.1180-4748G>C c.6461G>C (p.Trp2154Ser) c.5111G>C (p.Trp1704Ser) | |
1 | g.207611827G>T | CA344545240 | CR1 | c.6446G>T (p.Trp2149Leu) c.5096G>T (p.Trp1699Leu) c.1180-4748G>T c.6461G>T (p.Trp2154Leu) c.5111G>T (p.Trp1704Leu) | |
1 | g.207611828G>A | CA344545243 | CR1 | c.6447G>A (p.Trp2149Ter) c.5097G>A (p.Trp1699Ter) c.1180-4747G>A c.6462G>A (p.Trp2154Ter) c.5112G>A (p.Trp1704Ter) | gnomAD v4 |
1 | g.207611828G>C | CA344545244 | CR1 | c.6447G>C (p.Trp2149Cys) c.5097G>C (p.Trp1699Cys) c.1180-4747G>C c.6462G>C (p.Trp2154Cys) c.5112G>C (p.Trp1704Cys) | gnomAD v4 |
1 | g.207611828G>T | CA344545245 | CR1 | c.6447G>T (p.Trp2149Cys) c.5097G>T (p.Trp1699Cys) c.1180-4747G>T c.6462G>T (p.Trp2154Cys) c.5112G>T (p.Trp1704Cys) | |
1 | g.207611829A>C | CA344545246 | CR1 | c.6448A>C (p.Ser2150Arg) c.5098A>C (p.Ser1700Arg) c.1180-4746A>C c.6463A>C (p.Ser2155Arg) c.5113A>C (p.Ser1705Arg) | |
1 | g.207611829A>G | CA344545247 | CR1 | c.6448A>G (p.Ser2150Gly) c.5098A>G (p.Ser1700Gly) c.1180-4746A>G c.6463A>G (p.Ser2155Gly) c.5113A>G (p.Ser1705Gly) | |
1 | g.207611829A>T | CA344545248 | CR1 | c.6448A>T (p.Ser2150Cys) c.5098A>T (p.Ser1700Cys) c.1180-4746A>T c.6463A>T (p.Ser2155Cys) c.5113A>T (p.Ser1705Cys) | |
1 | g.207611830G>A | CA1370445 | CR1 | c.6449G>A (p.Ser2150Asn) c.5099G>A (p.Ser1700Asn) c.1180-4745G>A c.6464G>A (p.Ser2155Asn) c.5114G>A (p.Ser1705Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611830G>C | CA344545249 | CR1 | c.6449G>C (p.Ser2150Thr) c.5099G>C (p.Ser1700Thr) c.1180-4745G>C c.6464G>C (p.Ser2155Thr) c.5114G>C (p.Ser1705Thr) | |
1 | g.207611830G= | CA2483456577 | CR1 | c.6449G= (p.Ser2150=) c.5099G= (p.Ser1700=) c.1180-4745G= c.6464G= (p.Ser2155=) c.5114G= (p.Ser1705=) | |
1 | g.207611830G>T | CA344545250 | CR1 | c.6449G>T (p.Ser2150Ile) c.5099G>T (p.Ser1700Ile) c.1180-4745G>T c.6464G>T (p.Ser2155Ile) c.5114G>T (p.Ser1705Ile) | |
1 | g.207611831C>A | CA36655236 | CR1 | c.6450C>A (p.Ser2150Arg) c.5100C>A (p.Ser1700Arg) c.1180-4744C>A c.6465C>A (p.Ser2155Arg) c.5115C>A (p.Ser1705Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611831C= | CA2483456578 | CR1 | c.6450C= (p.Ser2150=) c.5100C= (p.Ser1700=) c.1180-4744C= c.6465C= (p.Ser2155=) c.5115C= (p.Ser1705=) | |
1 | g.207611831C>G | CA344545251 | CR1 | c.6450C>G (p.Ser2150Arg) c.5100C>G (p.Ser1700Arg) c.1180-4744C>G c.6465C>G (p.Ser2155Arg) c.5115C>G (p.Ser1705Arg) | |
1 | g.207611831C>T | CA422973130 | CR1 | c.6450C>T (p.Ser2150=) c.5100C>T (p.Ser1700=) c.1180-4744C>T c.6465C>T (p.Ser2155=) c.5115C>T (p.Ser1705=) | |
1 | g.207611832C>A | CA344545252 | CR1 | c.6451C>A (p.Pro2151Thr) c.5101C>A (p.Pro1701Thr) c.1180-4743C>A c.6466C>A (p.Pro2156Thr) c.5116C>A (p.Pro1706Thr) | gnomAD v4 |
1 | g.207611832C>G | CA344545253 | CR1 | c.6451C>G (p.Pro2151Ala) c.5101C>G (p.Pro1701Ala) c.1180-4743C>G c.6466C>G (p.Pro2156Ala) c.5116C>G (p.Pro1706Ala) | |
1 | g.207611832C>T | CA344545254 | CR1 | c.6451C>T (p.Pro2151Ser) c.5101C>T (p.Pro1701Ser) c.1180-4743C>T c.6466C>T (p.Pro2156Ser) c.5116C>T (p.Pro1706Ser) | |
1 | g.207611833C>A | CA344545255 | CR1 | c.6452C>A (p.Pro2151His) c.5102C>A (p.Pro1701His) c.1180-4742C>A c.6467C>A (p.Pro2156His) c.5117C>A (p.Pro1706His) | |
1 | g.207611833C= | CA2483456579 | CR1 | c.6452C= (p.Pro2151=) c.5102C= (p.Pro1701=) c.1180-4742C= c.6467C= (p.Pro2156=) c.5117C= (p.Pro1706=) | |
1 | g.207611833C>G | CA344545256 | CR1 | c.6452C>G (p.Pro2151Arg) c.5102C>G (p.Pro1701Arg) c.1180-4742C>G c.6467C>G (p.Pro2156Arg) c.5117C>G (p.Pro1706Arg) | |
1 | g.207611833C>T | CA344545257 | CR1 | c.6452C>T (p.Pro2151Leu) c.5102C>T (p.Pro1701Leu) c.1180-4742C>T c.6467C>T (p.Pro2156Leu) c.5117C>T (p.Pro1706Leu) | |
1 | g.207611834T>A | CA422973137 | CR1 | c.6453T>A (p.Pro2151=) c.5103T>A (p.Pro1701=) c.1180-4741T>A c.6468T>A (p.Pro2156=) c.5118T>A (p.Pro1706=) | |
1 | g.207611834T>C | CA36655238 | CR1 | c.6453T>C (p.Pro2151=) c.5103T>C (p.Pro1701=) c.1180-4741T>C c.6468T>C (p.Pro2156=) c.5118T>C (p.Pro1706=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611834T>G | CA422973139 | CR1 | c.6453T>G (p.Pro2151=) c.5103T>G (p.Pro1701=) c.1180-4741T>G c.6468T>G (p.Pro2156=) c.5118T>G (p.Pro1706=) | |
1 | g.207611834T= | CA2483456580 | CR1 | c.6453T= (p.Pro2151=) c.5103T= (p.Pro1701=) c.1180-4741T= c.6468T= (p.Pro2156=) c.5118T= (p.Pro1706=) | |
1 | g.207611834dup | CA1370446 | CR1 | c.6453dup (p.Glu2152Ter) c.5103dup (p.Glu1702Ter) c.1180-4741dup c.6468dup (p.Glu2157Ter) c.5118dup (p.Glu1707Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611835G>A | CA1370447 | CR1 | c.6454G>A (p.Glu2152Lys) c.5104G>A (p.Glu1702Lys) c.1180-4740G>A c.6469G>A (p.Glu2157Lys) c.5119G>A (p.Glu1707Lys) | dbSNP ExAC gnomAD v2 |
1 | g.207611835G>C | CA344545258 | CR1 | c.6454G>C (p.Glu2152Gln) c.5104G>C (p.Glu1702Gln) c.1180-4740G>C c.6469G>C (p.Glu2157Gln) c.5119G>C (p.Glu1707Gln) | |
1 | g.207611835G= | CA2483456581 | CR1 | c.6454G= (p.Glu2152=) c.5104G= (p.Glu1702=) c.1180-4740G= c.6469G= (p.Glu2157=) c.5119G= (p.Glu1707=) | |
1 | g.207611835G>T | CA344545259 | CR1 | c.6454G>T (p.Glu2152Ter) c.5104G>T (p.Glu1702Ter) c.1180-4740G>T c.6469G>T (p.Glu2157Ter) c.5119G>T (p.Glu1707Ter) | COSMIC COSMIC |
1 | g.207611836A>C | CA344545260 | CR1 | c.6455A>C (p.Glu2152Ala) c.5105A>C (p.Glu1702Ala) c.1180-4739A>C c.6470A>C (p.Glu2157Ala) c.5120A>C (p.Glu1707Ala) | |
1 | g.207611836A>G | CA344545262 | CR1 | c.6455A>G (p.Glu2152Gly) c.5105A>G (p.Glu1702Gly) c.1180-4739A>G c.6470A>G (p.Glu2157Gly) c.5120A>G (p.Glu1707Gly) | |
1 | g.207611836A>T | CA344545261 | CR1 | c.6455A>T (p.Glu2152Val) c.5105A>T (p.Glu1702Val) c.1180-4739A>T c.6470A>T (p.Glu2157Val) c.5120A>T (p.Glu1707Val) | |
1 | g.207611837A>C | CA344545263 | CR1 | c.6456A>C (p.Glu2152Asp) c.5106A>C (p.Glu1702Asp) c.1180-4738A>C c.6471A>C (p.Glu2157Asp) c.5121A>C (p.Glu1707Asp) | |
1 | g.207611837A>G | CA422973145 | CR1 | c.6456A>G (p.Glu2152=) c.5106A>G (p.Glu1702=) c.1180-4738A>G c.6471A>G (p.Glu2157=) c.5121A>G (p.Glu1707=) | |
1 | g.207611837A>T | CA344545264 | CR1 | c.6456A>T (p.Glu2152Asp) c.5106A>T (p.Glu1702Asp) c.1180-4738A>T c.6471A>T (p.Glu2157Asp) c.5121A>T (p.Glu1707Asp) | |
1 | g.207611838G>A | CA344545265 | CR1 | c.6457G>A (p.Ala2153Thr) c.5107G>A (p.Ala1703Thr) c.1180-4737G>A c.6472G>A (p.Ala2158Thr) c.5122G>A (p.Ala1708Thr) | |
1 | g.207611838G>C | CA344545266 | CR1 | c.6457G>C (p.Ala2153Pro) c.5107G>C (p.Ala1703Pro) c.1180-4737G>C c.6472G>C (p.Ala2158Pro) c.5122G>C (p.Ala1708Pro) | |
1 | g.207611838G>T | CA344545267 | CR1 | c.6457G>T (p.Ala2153Ser) c.5107G>T (p.Ala1703Ser) c.1180-4737G>T c.6472G>T (p.Ala2158Ser) c.5122G>T (p.Ala1708Ser) | |
1 | g.207611839C>A | CA344545268 | CR1 | c.6458C>A (p.Ala2153Asp) c.5108C>A (p.Ala1703Asp) c.1180-4736C>A c.6473C>A (p.Ala2158Asp) c.5123C>A (p.Ala1708Asp) | |
1 | g.207611839C= | CA2483456582 | CR1 | c.6458C= (p.Ala2153=) c.5108C= (p.Ala1703=) c.1180-4736C= c.6473C= (p.Ala2158=) c.5123C= (p.Ala1708=) | |
1 | g.207611839C>G | CA344545269 | CR1 | c.6458C>G (p.Ala2153Gly) c.5108C>G (p.Ala1703Gly) c.1180-4736C>G c.6473C>G (p.Ala2158Gly) c.5123C>G (p.Ala1708Gly) | |
1 | g.207611839C>T | CA1370448 | CR1 | c.6458C>T (p.Ala2153Val) c.5108C>T (p.Ala1703Val) c.1180-4736C>T c.6473C>T (p.Ala2158Val) c.5123C>T (p.Ala1708Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611839_207611843del | CA2650269922 | CR1 | c.6458_6462del (p.Ala2153GlufsTer8) c.5108_5112del (p.Ala1703GlufsTer8) c.1180-4736_1180-4732del c.6473_6477del (p.Ala2158GlufsTer8) c.5123_5127del (p.Ala1708GlufsTer8) | gnomAD v4 |
1 | g.207611840C>A | CA422973155 | CR1 | c.6459C>A (p.Ala2153=) c.5109C>A (p.Ala1703=) c.1180-4735C>A c.6474C>A (p.Ala2158=) c.5124C>A (p.Ala1708=) | |
1 | g.207611840C>G | CA422973156 | CR1 | c.6459C>G (p.Ala2153=) c.5109C>G (p.Ala1703=) c.1180-4735C>G c.6474C>G (p.Ala2158=) c.5124C>G (p.Ala1708=) | |
1 | g.207611840C>T | CA422973158 | CR1 | c.6459C>T (p.Ala2153=) c.5109C>T (p.Ala1703=) c.1180-4735C>T c.6474C>T (p.Ala2158=) c.5124C>T (p.Ala1708=) | |
1 | g.207611841C>A | CA344545270 | CR1 | c.6460C>A (p.Pro2154Thr) c.5110C>A (p.Pro1704Thr) c.1180-4734C>A c.6475C>A (p.Pro2159Thr) c.5125C>A (p.Pro1709Thr) | |
1 | g.207611841C>G | CA344545271 | CR1 | c.6460C>G (p.Pro2154Ala) c.5110C>G (p.Pro1704Ala) c.1180-4734C>G c.6475C>G (p.Pro2159Ala) c.5125C>G (p.Pro1709Ala) | gnomAD v4 |
1 | g.207611841C>T | CA344545272 | CR1 | c.6460C>T (p.Pro2154Ser) c.5110C>T (p.Pro1704Ser) c.1180-4734C>T c.6475C>T (p.Pro2159Ser) c.5125C>T (p.Pro1709Ser) | |
1 | g.207611842C>A | CA344545275 | CR1 | c.6461C>A (p.Pro2154His) c.5111C>A (p.Pro1704His) c.1180-4733C>A c.6476C>A (p.Pro2159His) c.5126C>A (p.Pro1709His) | |
1 | g.207611842C>G | CA344545274 | CR1 | c.6461C>G (p.Pro2154Arg) c.5111C>G (p.Pro1704Arg) c.1180-4733C>G c.6476C>G (p.Pro2159Arg) c.5126C>G (p.Pro1709Arg) | |
1 | g.207611842C>T | CA344545273 | CR1 | c.6461C>T (p.Pro2154Leu) c.5111C>T (p.Pro1704Leu) c.1180-4733C>T c.6476C>T (p.Pro2159Leu) c.5126C>T (p.Pro1709Leu) | gnomAD v4 |
1 | g.207611843T>A | CA422973168 | CR1 | c.6462T>A (p.Pro2154=) c.5112T>A (p.Pro1704=) c.1180-4732T>A c.6477T>A (p.Pro2159=) c.5127T>A (p.Pro1709=) | |
1 | g.207611843T>C | CA1370449 | CR1 | c.6462T>C (p.Pro2154=) c.5112T>C (p.Pro1704=) c.1180-4732T>C c.6477T>C (p.Pro2159=) c.5127T>C (p.Pro1709=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611843T>G | CA422973170 | CR1 | c.6462T>G (p.Pro2154=) c.5112T>G (p.Pro1704=) c.1180-4732T>G c.6477T>G (p.Pro2159=) c.5127T>G (p.Pro1709=) | |
1 | g.207611843T= | CA1143532624 | CR1 | c.6462T= (p.Pro2154=) c.5112T= (p.Pro1704=) c.1180-4732T= c.6477T= (p.Pro2159=) c.5127T= (p.Pro1709=) | |
1 | g.207611844A>C | CA422973172 | CR1 | c.6463A>C (p.Arg2155=) c.5113A>C (p.Arg1705=) c.1180-4731A>C c.6478A>C (p.Arg2160=) c.5128A>C (p.Arg1710=) | |
1 | g.207611844A>G | CA344545276 | CR1 | c.6463A>G (p.Arg2155Gly) c.5113A>G (p.Arg1705Gly) c.1180-4731A>G c.6478A>G (p.Arg2160Gly) c.5128A>G (p.Arg1710Gly) | gnomAD v4 |
1 | g.207611844A>T | CA344545277 | CR1 | c.6463A>T (p.Arg2155Ter) c.5113A>T (p.Arg1705Ter) c.1180-4731A>T c.6478A>T (p.Arg2160Ter) c.5128A>T (p.Arg1710Ter) | |
1 | g.207611845G>A | CA344545278 | CR1 | c.6464G>A (p.Arg2155Lys) c.5114G>A (p.Arg1705Lys) c.1180-4730G>A c.6479G>A (p.Arg2160Lys) c.5129G>A (p.Arg1710Lys) | |
1 | g.207611845G>C | CA344545279 | CR1 | c.6464G>C (p.Arg2155Thr) c.5114G>C (p.Arg1705Thr) c.1180-4730G>C c.6479G>C (p.Arg2160Thr) c.5129G>C (p.Arg1710Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611845G= | CA2483456583 | CR1 | c.6464G= (p.Arg2155=) c.5114G= (p.Arg1705=) c.1180-4730G= c.6479G= (p.Arg2160=) c.5129G= (p.Arg1710=) | |
1 | g.207611845G>T | CA344545280 | CR1 | c.6464G>T (p.Arg2155Ile) c.5114G>T (p.Arg1705Ile) c.1180-4730G>T c.6479G>T (p.Arg2160Ile) c.5129G>T (p.Arg1710Ile) | |
1 | g.207611846A= | CA2483456584 | CR1 | c.6465A= (p.Arg2155=) c.5115A= (p.Arg1705=) c.1180-4729A= c.6480A= (p.Arg2160=) c.5130A= (p.Arg1710=) | |
1 | g.207611846A>C | CA344545281 | CR1 | c.6465A>C (p.Arg2155Ser) c.5115A>C (p.Arg1705Ser) c.1180-4729A>C c.6480A>C (p.Arg2160Ser) c.5130A>C (p.Arg1710Ser) | |
1 | g.207611846A>G | CA36655244 | CR1 | c.6465A>G (p.Arg2155=) c.5115A>G (p.Arg1705=) c.1180-4729A>G c.6480A>G (p.Arg2160=) c.5130A>G (p.Arg1710=) | dbSNP gnomAD v4 |
1 | g.207611846A>T | CA344545282 | CR1 | c.6465A>T (p.Arg2155Ser) c.5115A>T (p.Arg1705Ser) c.1180-4729A>T c.6480A>T (p.Arg2160Ser) c.5130A>T (p.Arg1710Ser) | dbSNP |
1 | g.207611847T>A | CA344545283 | CR1 | c.6466T>A (p.Cys2156Ser) c.5116T>A (p.Cys1706Ser) c.1180-4728T>A c.6481T>A (p.Cys2161Ser) c.5131T>A (p.Cys1711Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611847T>C | CA344545284 | CR1 | c.6466T>C (p.Cys2156Arg) c.5116T>C (p.Cys1706Arg) c.1180-4728T>C c.6481T>C (p.Cys2161Arg) c.5131T>C (p.Cys1711Arg) | dbSNP |
1 | g.207611847T>G | CA344545285 | CR1 | c.6466T>G (p.Cys2156Gly) c.5116T>G (p.Cys1706Gly) c.1180-4728T>G c.6481T>G (p.Cys2161Gly) c.5131T>G (p.Cys1711Gly) | gnomAD v4 |
1 | g.207611847T= | CA2483456585 | CR1 | c.6466T= (p.Cys2156=) c.5116T= (p.Cys1706=) c.1180-4728T= c.6481T= (p.Cys2161=) c.5131T= (p.Cys1711=) | |
1 | g.207611848G>A | CA344545286 | CR1 | c.6467G>A (p.Cys2156Tyr) c.5117G>A (p.Cys1706Tyr) c.1180-4727G>A c.6482G>A (p.Cys2161Tyr) c.5132G>A (p.Cys1711Tyr) | gnomAD v4 |
1 | g.207611848G>C | CA344545288 | CR1 | c.6467G>C (p.Cys2156Ser) c.5117G>C (p.Cys1706Ser) c.1180-4727G>C c.6482G>C (p.Cys2161Ser) c.5132G>C (p.Cys1711Ser) | |
1 | g.207611848G>T | CA344545287 | CR1 | c.6467G>T (p.Cys2156Phe) c.5117G>T (p.Cys1706Phe) c.1180-4727G>T c.6482G>T (p.Cys2161Phe) c.5132G>T (p.Cys1711Phe) | |
1 | g.207611849T>A | CA344545289 | CR1 | c.6468T>A (p.Cys2156Ter) c.5118T>A (p.Cys1706Ter) c.1180-4726T>A c.6483T>A (p.Cys2161Ter) c.5133T>A (p.Cys1711Ter) | gnomAD v4 |
1 | g.207611849T>C | CA422973193 | CR1 | c.6468T>C (p.Cys2156=) c.5118T>C (p.Cys1706=) c.1180-4726T>C c.6483T>C (p.Cys2161=) c.5133T>C (p.Cys1711=) | dbSNP |
1 | g.207611849T>G | CA344545290 | CR1 | c.6468T>G (p.Cys2156Trp) c.5118T>G (p.Cys1706Trp) c.1180-4726T>G c.6483T>G (p.Cys2161Trp) c.5133T>G (p.Cys1711Trp) | |
1 | g.207611850A>C | CA344545291 | CR1 | c.6469A>C (p.Thr2157Pro) c.5119A>C (p.Thr1707Pro) c.1180-4725A>C c.6484A>C (p.Thr2162Pro) c.5134A>C (p.Thr1712Pro) | gnomAD v4 |
1 | g.207611850A>G | CA344545293 | CR1 | c.6469A>G (p.Thr2157Ala) c.5119A>G (p.Thr1707Ala) c.1180-4725A>G c.6484A>G (p.Thr2162Ala) c.5134A>G (p.Thr1712Ala) | |
1 | g.207611850A>T | CA344545292 | CR1 | c.6469A>T (p.Thr2157Ser) c.5119A>T (p.Thr1707Ser) c.1180-4725A>T c.6484A>T (p.Thr2162Ser) c.5134A>T (p.Thr1712Ser) | |
1 | g.207611851C>A | CA344545294 | CR1 | c.6470C>A (p.Thr2157Lys) c.5120C>A (p.Thr1707Lys) c.1180-4724C>A c.6485C>A (p.Thr2162Lys) c.5135C>A (p.Thr1712Lys) | |
1 | g.207611851C>G | CA344545295 | CR1 | c.6470C>G (p.Thr2157Arg) c.5120C>G (p.Thr1707Arg) c.1180-4724C>G c.6485C>G (p.Thr2162Arg) c.5135C>G (p.Thr1712Arg) | |
1 | g.207611851C>T | CA344545296 | CR1 | c.6470C>T (p.Thr2157Ile) c.5120C>T (p.Thr1707Ile) c.1180-4724C>T c.6485C>T (p.Thr2162Ile) c.5135C>T (p.Thr1712Ile) | |
1 | g.207611852A>C | CA422973204 | CR1 | c.6471A>C (p.Thr2157=) c.5121A>C (p.Thr1707=) c.1180-4723A>C c.6486A>C (p.Thr2162=) c.5136A>C (p.Thr1712=) | |
1 | g.207611852A>G | CA422973206 | CR1 | c.6471A>G (p.Thr2157=) c.5121A>G (p.Thr1707=) c.1180-4723A>G c.6486A>G (p.Thr2162=) c.5136A>G (p.Thr1712=) | |
1 | g.207611852A>T | CA422973208 | CR1 | c.6471A>T (p.Thr2157=) c.5121A>T (p.Thr1707=) c.1180-4723A>T c.6486A>T (p.Thr2162=) c.5136A>T (p.Thr1712=) | |
1 | g.207611852_207611869delinsAGGTGCCTTGACTCTCTG | CA2483456586 | CR1 | c.6471_6472+16delinsAGGTGCCTTGACTCTCTG c.5121_5122+16delinsAGGTGCCTTGACTCTCTG c.1180-4723_1180-4706delinsAGGTGCCTTGACTCTCTG c.6486_6487+16delinsAGGTGCCTTGACTCTCTG c.5136_5137+16delinsAGGTGCCTTGACTCTCTG | |
1 | g.207611853G>A | CA344545297 | CR1 | c.6472G>A (p.Val2158Met) c.5122G>A (p.Val1708Met) c.1180-4722G>A c.6487G>A (p.Val2163Met) c.5137G>A (p.Val1713Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611853G>C | CA344545298 | CR1 | c.6472G>C (p.Val2158Leu) c.5122G>C (p.Val1708Leu) c.1180-4722G>C c.6487G>C (p.Val2163Leu) c.5137G>C (p.Val1713Leu) | |
1 | g.207611853G= | CA2483456587 | CR1 | c.6472G= (p.Val2158=) c.5122G= (p.Val1708=) c.1180-4722G= c.6487G= (p.Val2163=) c.5137G= (p.Val1713=) | |
1 | g.207611853G>T | CA344545299 | CR1 | c.6472G>T (p.Val2158Leu) c.5122G>T (p.Val1708Leu) c.1180-4722G>T c.6487G>T (p.Val2163Leu) c.5137G>T (p.Val1713Leu) | |
1 | g.207611853_207611870delinsGGTGCCTTGACTCTCTGG | CA1145321198 | CR1 | c.6472_6472+17delinsGGTGCCTTGACTCTCTGG c.5122_5122+17delinsGGTGCCTTGACTCTCTGG c.1180-4722_1180-4705delinsGGTGCCTTGACTCTCTGG c.6487_6487+17delinsGGTGCCTTGACTCTCTGG c.5137_5137+17delinsGGTGCCTTGACTCTCTGG | |
1 | g.207611854_207611870dup | CA2483456588 | CR1 | c.6472+1_6472+17dup c.5122+1_5122+17dup c.1180-4721_1180-4705dup c.6487+1_6487+17dup c.5137+1_5137+17dup | dbSNP |
1 | g.207611854_207611870del | CA1370450 | CR1 | c.6472+1_6472+17del c.5122+1_5122+17del c.1180-4721_1180-4705del c.6487+1_6487+17del c.5137+1_5137+17del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611854G>A | CA344545300 | CR1 | c.6472+1G>A (n.6472+1G>A) c.5122+1G>A (n.5122+1G>A) c.1180-4721G>A c.6487+1G>A (n.6487+1G>A) c.5137+1G>A (n.5137+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611854G>C | CA344545301 | CR1 | c.6472+1G>C (n.6472+1G>C) c.5122+1G>C (n.5122+1G>C) c.1180-4721G>C c.6487+1G>C (n.6487+1G>C) c.5137+1G>C (n.5137+1G>C) | |
1 | g.207611854G= | CA2483456589 | CR1 | c.6472+1G= (n.6472+1G=) c.5122+1G= (n.5122+1G=) c.1180-4721G= c.6487+1G= (n.6487+1G=) c.5137+1G= (n.5137+1G=) | |
1 | g.207611854G>T | CA344545302 | CR1 | c.6472+1G>T (n.6472+1G>T) c.5122+1G>T (n.5122+1G>T) c.1180-4721G>T c.6487+1G>T (n.6487+1G>T) c.5137+1G>T (n.5137+1G>T) | |
1 | g.207611855T>A | CA344545303 | CR1 | c.6472+2T>A (n.6472+2T>A) c.5122+2T>A (n.5122+2T>A) c.1180-4720T>A c.6487+2T>A (n.6487+2T>A) c.5137+2T>A (n.5137+2T>A) | |
1 | g.207611855T>C | CA344545304 | CR1 | c.6472+2T>C (n.6472+2T>C) c.5122+2T>C (n.5122+2T>C) c.1180-4720T>C c.6487+2T>C (n.6487+2T>C) c.5137+2T>C (n.5137+2T>C) | |
1 | g.207611855T>G | CA344545305 | CR1 | c.6472+2T>G (n.6472+2T>G) c.5122+2T>G (n.5122+2T>G) c.1180-4720T>G c.6487+2T>G (n.6487+2T>G) c.5137+2T>G (n.5137+2T>G) | |
1 | g.207611856G>A | CA36655247 | CR1 | c.6472+3G>A (n.6472+3G>A) c.5122+3G>A (n.5122+3G>A) c.1180-4719G>A c.6487+3G>A (n.6487+3G>A) c.5137+3G>A (n.5137+3G>A) | dbSNP |
1 | g.207611856G= | CA2483456590 | CR1 | c.6472+3G= (n.6472+3G=) c.5122+3G= (n.5122+3G=) c.1180-4719G= c.6487+3G= (n.6487+3G=) c.5137+3G= (n.5137+3G=) | |
1 | g.207611857C>A | CA2573653828 | CR1 | c.6472+4C>A (n.6472+4C>A) c.5122+4C>A (n.5122+4C>A) c.1180-4718C>A c.6487+4C>A (n.6487+4C>A) c.5137+4C>A (n.5137+4C>A) | |
1 | g.207611857C>T | CA2650269923 | CR1 | c.6472+4C>T (n.6472+4C>T) c.5122+4C>T (n.5122+4C>T) c.1180-4718C>T c.6487+4C>T (n.6487+4C>T) c.5137+4C>T (n.5137+4C>T) | gnomAD v4 |
1 | g.207611858C= | CA2483456591 | CR1 | c.6472+5C= (n.6472+5C=) c.5122+5C= (n.5122+5C=) c.1180-4717C= c.6487+5C= (n.6487+5C=) c.5137+5C= (n.5137+5C=) | |
1 | g.207611858C>T | CA528999501 | CR1 | c.6472+5C>T (n.6472+5C>T) c.5122+5C>T (n.5122+5C>T) c.1180-4717C>T c.6487+5C>T (n.6487+5C>T) c.5137+5C>T (n.5137+5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611859T>C | CA2573653829 | CR1 | c.6472+6T>C (n.6472+6T>C) c.5122+6T>C (n.5122+6T>C) c.1180-4716T>C c.6487+6T>C (n.6487+6T>C) c.5137+6T>C (n.5137+6T>C) | |
1 | g.207611859T>G | CA2650269924 | CR1 | c.6472+6T>G (n.6472+6T>G) c.5122+6T>G (n.5122+6T>G) c.1180-4716T>G c.6487+6T>G (n.6487+6T>G) c.5137+6T>G (n.5137+6T>G) | gnomAD v4 |
1 | g.207611860T>C | CA2650269925 | CR1 | c.6472+7T>C (n.6472+7T>C) c.5122+7T>C (n.5122+7T>C) c.1180-4715T>C c.6487+7T>C (n.6487+7T>C) c.5137+7T>C (n.5137+7T>C) | dbSNP gnomAD v4 |
1 | g.207611860T>G | CA528999502 | CR1 | c.6472+7T>G (n.6472+7T>G) c.5122+7T>G (n.5122+7T>G) c.1180-4715T>G c.6487+7T>G (n.6487+7T>G) c.5137+7T>G (n.5137+7T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611860T= | CA2483456592 | CR1 | c.6472+7T= (n.6472+7T=) c.5122+7T= (n.5122+7T=) c.1180-4715T= c.6487+7T= (n.6487+7T=) c.5137+7T= (n.5137+7T=) |