| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.230710545C>A | CA345207067 | AGT | c.279G>T (p.Arg93Ser) n.790G>T c.306G>T (p.Arg102Ser) | |
| 1 | g.230710545C= | CA1226669779 | AGT | c.279G= (p.Arg93=) n.790G= c.306G= (p.Arg102=) | |
| 1 | g.230710545C>G | CA345207070 | AGT | c.279G>C (p.Arg93Ser) n.790G>C c.306G>C (p.Arg102Ser) | |
| 1 | g.230710545C>T | CA1448336 | AGT | c.279G>A (p.Arg93=) n.790G>A c.306G>A (p.Arg102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710546C>A | CA345207075 | AGT | c.278G>T (p.Arg93Met) n.789G>T c.305G>T (p.Arg102Met) | |
| 1 | g.230710546C= | CA1143404008 | AGT | c.278G= (p.Arg93=) n.789G= c.305G= (p.Arg102=) | |
| 1 | g.230710546C>G | CA345207078 | AGT | c.278G>C (p.Arg93Thr) n.789G>C c.305G>C (p.Arg102Thr) | |
| 1 | g.230710546C>T | CA1448337 | AGT | c.278G>A (p.Arg93Lys) n.789G>A c.305G>A (p.Arg102Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710547T>A | CA345207079 | AGT | c.277A>T (p.Arg93Trp) n.788A>T c.304A>T (p.Arg102Trp) | |
| 1 | g.230710547T>C | CA345207081 | AGT | c.277A>G (p.Arg93Gly) n.788A>G c.304A>G (p.Arg102Gly) | |
| 1 | g.230710547T>G | CA424036574 | AGT | c.277A>C (p.Arg93=) n.788A>C c.304A>C (p.Arg102=) | |
| 1 | g.230710548C>A | CA345207085 | AGT | c.276G>T (p.Leu92Phe) n.787G>T c.303G>T (p.Leu101Phe) | |
| 1 | g.230710548C>G | CA345207087 | AGT | c.276G>C (p.Leu92Phe) n.787G>C c.303G>C (p.Leu101Phe) | |
| 1 | g.230710548C>T | CA424036575 | AGT | c.276G>A (p.Leu92=) n.787G>A c.303G>A (p.Leu101=) | |
| 1 | g.230710549A>C | CA345207093 | AGT | c.275T>G (p.Leu92Trp) n.786T>G c.302T>G (p.Leu101Trp) | gnomAD v4 |
| 1 | g.230710549A>G | CA345207091 | AGT | c.275T>C (p.Leu92Ser) n.786T>C c.302T>C (p.Leu101Ser) | |
| 1 | g.230710549A>T | CA345207089 | AGT | c.275T>A (p.Leu92Ter) n.786T>A c.302T>A (p.Leu101Ter) | |
| 1 | g.230710550A= | CA1148284293 | AGT | c.274T= (p.Leu92=) n.785T= c.301T= (p.Leu101=) | |
| 1 | g.230710550A>C | CA345207097 | AGT | c.274T>G (p.Leu92Val) n.785T>G c.301T>G (p.Leu101Val) | |
| 1 | g.230710550A>G | CA1448338 | AGT | c.274T>C (p.Leu92=) n.785T>C c.301T>C (p.Leu101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710550A>T | CA345207100 | AGT | c.274T>A (p.Leu92Met) n.785T>A c.301T>A (p.Leu101Met) | |
| 1 | g.230710551C>A | CA345207101 | AGT | c.273G>T (p.Lys91Asn) n.784G>T c.300G>T (p.Lys100Asn) | |
| 1 | g.230710551C= | CA1226669780 | AGT | c.273G= (p.Lys91=) n.784G= c.300G= (p.Lys100=) | |
| 1 | g.230710551C>G | CA345207102 | AGT | c.273G>C (p.Lys91Asn) n.784G>C c.300G>C (p.Lys100Asn) | |
| 1 | g.230710551C>T | CA424036579 | AGT | c.273G>A (p.Lys91=) n.784G>A c.300G>A (p.Lys100=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710552T>A | CA345207103 | AGT | c.272A>T (p.Lys91Met) n.783A>T c.299A>T (p.Lys100Met) | |
| 1 | g.230710552T>C | CA345207105 | AGT | c.272A>G (p.Lys91Arg) n.783A>G c.299A>G (p.Lys100Arg) | |
| 1 | g.230710552T>G | CA345207106 | AGT | c.272A>C (p.Lys91Thr) n.783A>C c.299A>C (p.Lys100Thr) | |
| 1 | g.230710553T>A | CA345207108 | AGT | c.271A>T (p.Lys91Ter) n.782A>T c.298A>T (p.Lys100Ter) | |
| 1 | g.230710553T>C | CA38872041 | AGT | c.271A>G (p.Lys91Glu) n.782A>G c.298A>G (p.Lys100Glu) | dbSNP |
| 1 | g.230710553T>G | CA345207111 | AGT | c.271A>C (p.Lys91Gln) n.782A>C c.298A>C (p.Lys100Gln) | |
| 1 | g.230710553T= | CA1140265668 | AGT | c.271A= (p.Lys91=) n.782A= c.298A= (p.Lys100=) | |
| 1 | g.230710554G>A | CA424036584 | AGT | c.270C>T (p.Asp90=) n.781C>T c.297C>T (p.Asp99=) | |
| 1 | g.230710554G>C | CA345207133 | AGT | c.270C>G (p.Asp90Glu) n.781C>G c.297C>G (p.Asp99Glu) | |
| 1 | g.230710554G= | CA1226669781 | AGT | c.270C= (p.Asp90=) n.781C= c.297C= (p.Asp99=) | |
| 1 | g.230710554G>T | CA345207136 | AGT | c.270C>A (p.Asp90Glu) n.781C>A c.297C>A (p.Asp99Glu) | |
| 1 | g.230710555T>A | CA345207143 | AGT | c.269A>T (p.Asp90Val) n.780A>T c.296A>T (p.Asp99Val) | |
| 1 | g.230710555T>C | CA345207139 | AGT | c.269A>G (p.Asp90Gly) n.780A>G c.296A>G (p.Asp99Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710555T>G | CA345207140 | AGT | c.269A>C (p.Asp90Ala) n.780A>C c.296A>C (p.Asp99Ala) | |
| 1 | g.230710555T= | CA1226669782 | AGT | c.269A= (p.Asp90=) n.780A= c.296A= (p.Asp99=) | |
| 1 | g.230710557_230710559dup | CA732704142 | AGT | c.267_269dup (p.Glu89_Asp90insGlu) n.778_780dup c.294_296dup (p.Glu98_Asp99insGlu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710556C>A | CA345207145 | AGT | c.268G>T (p.Asp90Tyr) n.779G>T c.295G>T (p.Asp99Tyr) | |
| 1 | g.230710556C>G | CA345207147 | AGT | c.268G>C (p.Asp90His) n.779G>C c.295G>C (p.Asp99His) | |
| 1 | g.230710556C>T | CA345207149 | AGT | c.268G>A (p.Asp90Asn) n.779G>A c.295G>A (p.Asp99Asn) | gnomAD v4 |
| 1 | g.230710557T>A | CA345207152 | AGT | c.267A>T (p.Glu89Asp) n.778A>T c.294A>T (p.Glu98Asp) | |
| 1 | g.230710557T>C | CA38872047 | AGT | c.267A>G (p.Glu89=) n.778A>G c.294A>G (p.Glu98=) | dbSNP |
| 1 | g.230710557T>G | CA345207155 | AGT | c.267A>C (p.Glu89Asp) n.778A>C c.294A>C (p.Glu98Asp) | gnomAD v4 |
| 1 | g.230710557T= | CA1148297487 | AGT | c.267A= (p.Glu89=) n.778A= c.294A= (p.Glu98=) | |
| 1 | g.230710558T>A | CA345207159 | AGT | c.266A>T (p.Glu89Val) n.777A>T c.293A>T (p.Glu98Val) | |
| 1 | g.230710558T>C | CA345207160 | AGT | c.266A>G (p.Glu89Gly) n.777A>G c.293A>G (p.Glu98Gly) | |
| 1 | g.230710558T>G | CA345207162 | AGT | c.266A>C (p.Glu89Ala) n.777A>C c.293A>C (p.Glu98Ala) | |
| 1 | g.230710559C>A | CA345207164 | AGT | c.265G>T (p.Glu89Ter) n.776G>T c.292G>T (p.Glu98Ter) | |
| 1 | g.230710559C= | CA1140265669 | AGT | c.265G= (p.Glu89=) n.776G= c.292G= (p.Glu98=) | |
| 1 | g.230710559C>G | CA345207166 | AGT | c.265G>C (p.Glu89Gln) n.776G>C c.292G>C (p.Glu98Gln) | |
| 1 | g.230710559C>T | CA1448339 | AGT | c.265G>A (p.Glu89Lys) n.776G>A c.292G>A (p.Glu98Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710560G>A | CA1448340 | AGT | c.264C>T (p.Thr88=) n.775C>T c.291C>T (p.Thr97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710560G>C | CA424036589 | AGT | c.264C>G (p.Thr88=) n.775C>G c.291C>G (p.Thr97=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710560G= | CA1140265670 | AGT | c.264C= (p.Thr88=) n.775C= c.291C= (p.Thr97=) | |
| 1 | g.230710560G>T | CA38872059 | AGT | c.264C>A (p.Thr88=) n.775C>A c.291C>A (p.Thr97=) | dbSNP |
| 1 | g.230710561G>A | CA345207170 | AGT | c.263C>T (p.Thr88Ile) n.774C>T c.290C>T (p.Thr97Ile) | gnomAD v4 |
| 1 | g.230710561G>C | CA345207175 | AGT | c.263C>G (p.Thr88Ser) n.774C>G c.290C>G (p.Thr97Ser) | |
| 1 | g.230710561G= | CA1226658493 | AGT | c.263C= (p.Thr88=) n.774C= c.290C= (p.Thr97=) | |
| 1 | g.230710561G>T | CA345207172 | AGT | c.263C>A (p.Thr88Asn) n.774C>A c.290C>A (p.Thr97Asn) | dbSNP gnomAD v4 |
| 1 | g.230710562T>A | CA345207178 | AGT | c.262A>T (p.Thr88Ser) n.773A>T c.289A>T (p.Thr97Ser) | |
| 1 | g.230710562T>C | CA1448341 | AGT | c.262A>G (p.Thr88Ala) n.773A>G c.289A>G (p.Thr97Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710562T>G | CA345207179 | AGT | c.262A>C (p.Thr88Pro) n.773A>C c.289A>C (p.Thr97Pro) | dbSNP gnomAD v4 |
| 1 | g.230710562T= | CA1148469112 | AGT | c.262A= (p.Thr88=) n.773A= c.289A= (p.Thr97=) | |
| 1 | g.230710563G>A | CA424036593 | AGT | c.261C>T (p.Asp87=) n.772C>T c.288C>T (p.Asp96=) | dbSNP |
| 1 | g.230710563G>C | CA345207184 | AGT | c.261C>G (p.Asp87Glu) n.772C>G c.288C>G (p.Asp96Glu) | |
| 1 | g.230710563G= | CA1226658505 | AGT | c.261C= (p.Asp87=) n.772C= c.288C= (p.Asp96=) | |
| 1 | g.230710563G>T | CA345207187 | AGT | c.261C>A (p.Asp87Glu) n.772C>A c.288C>A (p.Asp96Glu) | |
| 1 | g.230710564T>A | CA345207190 | AGT | c.260A>T (p.Asp87Val) n.771A>T c.287A>T (p.Asp96Val) | |
| 1 | g.230710564T>C | CA345207192 | AGT | c.260A>G (p.Asp87Gly) n.771A>G c.287A>G (p.Asp96Gly) | gnomAD v4 |
| 1 | g.230710564T>G | CA345207194 | AGT | c.260A>C (p.Asp87Ala) n.771A>C c.287A>C (p.Asp96Ala) | |
| 1 | g.230710565C>A | CA345207196 | AGT | c.259G>T (p.Asp87Tyr) n.770G>T c.286G>T (p.Asp96Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710565C= | CA1226658526 | AGT | c.259G= (p.Asp87=) n.770G= c.286G= (p.Asp96=) | |
| 1 | g.230710565C>G | CA345207198 | AGT | c.259G>C (p.Asp87His) n.770G>C c.286G>C (p.Asp96His) | |
| 1 | g.230710565C>T | CA345207200 | AGT | c.259G>A (p.Asp87Asn) n.770G>A c.286G>A (p.Asp96Asn) | |
| 1 | g.230710566A>C | CA424036597 | AGT | c.258T>G (p.Leu86=) n.769T>G c.285T>G (p.Leu95=) | |
| 1 | g.230710566A>G | CA424036596 | AGT | c.258T>C (p.Leu86=) n.769T>C c.285T>C (p.Leu95=) | |
| 1 | g.230710566A>T | CA424036595 | AGT | c.258T>A (p.Leu86=) n.769T>A c.285T>A (p.Leu95=) | |
| 1 | g.230710567A>C | CA345207202 | AGT | c.257T>G (p.Leu86Arg) n.768T>G c.284T>G (p.Leu95Arg) | |
| 1 | g.230710567A>G | CA345207204 | AGT | c.257T>C (p.Leu86Pro) n.768T>C c.284T>C (p.Leu95Pro) | gnomAD v4 COSMIC |
| 1 | g.230710567A>T | CA345207205 | AGT | c.257T>A (p.Leu86His) n.768T>A c.284T>A (p.Leu95His) | |
| 1 | g.230710568G>A | CA345207209 | AGT | c.256C>T (p.Leu86Phe) n.767C>T c.283C>T (p.Leu95Phe) | |
| 1 | g.230710568G>C | CA345207207 | AGT | c.256C>G (p.Leu86Val) n.767C>G c.283C>G (p.Leu95Val) | |
| 1 | g.230710568G>T | CA345207208 | AGT | c.256C>A (p.Leu86Ile) n.767C>A c.283C>A (p.Leu95Ile) | |
| 1 | g.230710569T>A | CA345207211 | AGT | c.255A>T (p.Lys85Asn) n.766A>T c.282A>T (p.Lys94Asn) | |
| 1 | g.230710569T>C | CA424036599 | AGT | c.255A>G (p.Lys85=) n.766A>G c.282A>G (p.Lys94=) | ClinVar |
| 1 | g.230710569T>G | CA345207212 | AGT | c.255A>C (p.Lys85Asn) n.766A>C c.282A>C (p.Lys94Asn) | dbSNP gnomAD v4 |
| 1 | g.230710569T= | CA1226658529 | AGT | c.255A= (p.Lys85=) n.766A= c.282A= (p.Lys94=) | |
| 1 | g.230710570T>A | CA345207214 | AGT | c.254A>T (p.Lys85Ile) n.765A>T c.281A>T (p.Lys94Ile) | |
| 1 | g.230710570T>C | CA345207216 | AGT | c.254A>G (p.Lys85Arg) n.765A>G c.281A>G (p.Lys94Arg) | |
| 1 | g.230710570T>G | CA345207219 | AGT | c.254A>C (p.Lys85Thr) n.765A>C c.281A>C (p.Lys94Thr) | gnomAD v4 |
| 1 | g.230710571T>A | CA345207221 | AGT | c.253A>T (p.Lys85Ter) n.764A>T c.280A>T (p.Lys94Ter) | |
| 1 | g.230710571T>C | CA345207222 | AGT | c.253A>G (p.Lys85Glu) n.764A>G c.280A>G (p.Lys94Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710571T>G | CA345207224 | AGT | c.253A>C (p.Lys85Gln) n.764A>C c.280A>C (p.Lys94Gln) | |
| 1 | g.230710571T= | CA1226658534 | AGT | c.253A= (p.Lys85=) n.764A= c.280A= (p.Lys94=) | |
| 1 | g.230710572T>A | CA424036602 | AGT | c.252A>T (p.Ala84=) n.763A>T c.279A>T (p.Ala93=) | |
| 1 | g.230710572T>C | CA424036603 | AGT | c.252A>G (p.Ala84=) n.763A>G c.279A>G (p.Ala93=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710572T>G | CA424036604 | AGT | c.252A>C (p.Ala84=) n.763A>C c.279A>C (p.Ala93=) | |
| 1 | g.230710572T= | CA1226658537 | AGT | c.252A= (p.Ala84=) n.763A= c.279A= (p.Ala93=) | |
| 1 | g.230710573G>A | CA345207226 | AGT | c.251C>T (p.Ala84Val) n.762C>T c.278C>T (p.Ala93Val) | gnomAD v4 |
| 1 | g.230710573G>C | CA345207228 | AGT | c.251C>G (p.Ala84Gly) n.762C>G c.278C>G (p.Ala93Gly) | |
| 1 | g.230710573G>T | CA345207229 | AGT | c.251C>A (p.Ala84Glu) n.762C>A c.278C>A (p.Ala93Glu) | gnomAD v4 |
| 1 | g.230710573_230710586delinsGCAGCGACTAGCAC | CA1226658540 | AGT | c.238_251delinsGTGCTAGTCGCTGC (p.Val80=) n.749_762delinsGTGCTAGTCGCTGC c.265_278delinsGTGCTAGTCGCTGC (p.Val89=) | |
| 1 | g.230710574C>A | CA345207232 | AGT | c.250G>T (p.Ala84Ser) n.761G>T c.277G>T (p.Ala93Ser) | |
| 1 | g.230710574C>G | CA345207234 | AGT | c.250G>C (p.Ala84Pro) n.761G>C c.277G>C (p.Ala93Pro) | |
| 1 | g.230710574C>T | CA345207231 | AGT | c.250G>A (p.Ala84Thr) n.761G>A c.277G>A (p.Ala93Thr) | gnomAD v4 |
| 1 | g.230710578_230710590del | CA529916069 | AGT | c.238_250del (p.Val80GlnfsTer9) n.749_761del c.265_277del (p.Val89GlnfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710575A>C | CA424036606 | AGT | c.249T>G (p.Ala83=) n.760T>G c.276T>G (p.Ala92=) | |
| 1 | g.230710575A>G | CA424036607 | AGT | c.249T>C (p.Ala83=) n.760T>C c.276T>C (p.Ala92=) | |
| 1 | g.230710575A>T | CA424036608 | AGT | c.249T>A (p.Ala83=) n.760T>A c.276T>A (p.Ala92=) | |
| 1 | g.230710576G>A | CA345207236 | AGT | c.248C>T (p.Ala83Val) n.759C>T c.275C>T (p.Ala92Val) | |
| 1 | g.230710576G>C | CA345207238 | AGT | c.248C>G (p.Ala83Gly) n.759C>G c.275C>G (p.Ala92Gly) | |
| 1 | g.230710576G>T | CA345207240 | AGT | c.248C>A (p.Ala83Asp) n.759C>A c.275C>A (p.Ala92Asp) | |
| 1 | g.230710577C>A | CA345207241 | AGT | c.247G>T (p.Ala83Ser) n.758G>T c.274G>T (p.Ala92Ser) | |
| 1 | g.230710577C= | CA1226658553 | AGT | c.247G= (p.Ala83=) n.758G= c.274G= (p.Ala92=) | |
| 1 | g.230710577C>G | CA345207243 | AGT | c.247G>C (p.Ala83Pro) n.758G>C c.274G>C (p.Ala92Pro) | |
| 1 | g.230710577C>T | CA10610303 | AGT | c.247G>A (p.Ala83Thr) n.758G>A c.274G>A (p.Ala92Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710578G>A | CA1448342 | AGT | c.246C>T (p.Val82=) n.757C>T c.273C>T (p.Val91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710578G>C | CA1448343 | AGT | c.246C>G (p.Val82=) n.757C>G c.273C>G (p.Val91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710578G= | CA1140265671 | AGT | c.246C= (p.Val82=) n.757C= c.273C= (p.Val91=) | |
| 1 | g.230710578G>T | CA424036612 | AGT | c.246C>A (p.Val82=) n.757C>A c.273C>A (p.Val91=) | |
| 1 | g.230710579A= | CA1226658559 | AGT | c.245T= (p.Val82=) n.756T= c.272T= (p.Val91=) | |
| 1 | g.230710579A>C | CA345207247 | AGT | c.245T>G (p.Val82Gly) n.756T>G c.272T>G (p.Val91Gly) | |
| 1 | g.230710579A>G | CA345207249 | AGT | c.245T>C (p.Val82Ala) n.756T>C c.272T>C (p.Val91Ala) | |
| 1 | g.230710579A>T | CA345207250 | AGT | c.245T>A (p.Val82Asp) n.756T>A c.272T>A (p.Val91Asp) | dbSNP |
| 1 | g.230710580C>A | CA345207252 | AGT | c.244G>T (p.Val82Phe) n.755G>T c.271G>T (p.Val91Phe) | |
| 1 | g.230710580C>G | CA345207254 | AGT | c.244G>C (p.Val82Leu) n.755G>C c.271G>C (p.Val91Leu) | |
| 1 | g.230710580C>T | CA345207256 | AGT | c.244G>A (p.Val82Ile) n.755G>A c.271G>A (p.Val91Ile) | gnomAD v4 |
| 1 | g.230710581T>A | CA424036617 | AGT | c.243A>T (p.Leu81=) n.754A>T c.270A>T (p.Leu90=) | |
| 1 | g.230710581T>C | CA424036618 | AGT | c.243A>G (p.Leu81=) n.754A>G c.270A>G (p.Leu90=) | dbSNP |
| 1 | g.230710581T>G | CA424036619 | AGT | c.243A>C (p.Leu81=) n.754A>C c.270A>C (p.Leu90=) | gnomAD v4 |
| 1 | g.230710581T= | CA1226658560 | AGT | c.243A= (p.Leu81=) n.754A= c.270A= (p.Leu90=) | |
| 1 | g.230710582A= | CA1226658563 | AGT | c.242T= (p.Leu81=) n.753T= c.269T= (p.Leu90=) | |
| 1 | g.230710582A>C | CA345207258 | AGT | c.242T>G (p.Leu81Arg) n.753T>G c.269T>G (p.Leu90Arg) | |
| 1 | g.230710582A>G | CA345207262 | AGT | c.242T>C (p.Leu81Pro) n.753T>C c.269T>C (p.Leu90Pro) | gnomAD v4 |
| 1 | g.230710582A>T | CA345207260 | AGT | c.242T>A (p.Leu81Gln) n.753T>A c.269T>A (p.Leu90Gln) | dbSNP |
| 1 | g.230710583G>A | CA424036621 | AGT | c.241C>T (p.Leu81=) n.752C>T c.268C>T (p.Leu90=) | gnomAD v4 |
| 1 | g.230710583G>C | CA345207263 | AGT | c.241C>G (p.Leu81Val) n.752C>G c.268C>G (p.Leu90Val) | |
| 1 | g.230710583G>T | CA345207264 | AGT | c.241C>A (p.Leu81Ile) n.752C>A c.268C>A (p.Leu90Ile) | |
| 1 | g.230710584C>A | CA424036625 | AGT | c.240G>T (p.Val80=) n.751G>T c.267G>T (p.Val89=) | |
| 1 | g.230710584C>G | CA424036627 | AGT | c.240G>C (p.Val80=) n.751G>C c.267G>C (p.Val89=) | |
| 1 | g.230710584C>T | CA424036626 | AGT | c.240G>A (p.Val80=) n.751G>A c.267G>A (p.Val89=) | gnomAD v4 |
| 1 | g.230710585A>C | CA345207266 | AGT | c.239T>G (p.Val80Gly) n.750T>G c.266T>G (p.Val89Gly) | |
| 1 | g.230710585A>G | CA345207268 | AGT | c.239T>C (p.Val80Ala) n.750T>C c.266T>C (p.Val89Ala) | |
| 1 | g.230710585A>T | CA345207269 | AGT | c.239T>A (p.Val80Glu) n.750T>A c.266T>A (p.Val89Glu) | |
| 1 | g.230710586C>A | CA1448344 | AGT | c.238G>T (p.Val80Leu) n.749G>T c.265G>T (p.Val89Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710586C= | CA1149044286 | AGT | c.238G= (p.Val80=) n.749G= c.265G= (p.Val89=) | |
| 1 | g.230710586C>G | CA345207271 | AGT | c.238G>C (p.Val80Leu) n.749G>C c.265G>C (p.Val89Leu) | |
| 1 | g.230710586C>T | CA345207273 | AGT | c.238G>A (p.Val80Met) n.749G>A c.265G>A (p.Val89Met) | gnomAD v4 |
| 1 | g.230710587C>A | CA424036630 | AGT | c.237G>T (p.Leu79=) n.748G>T c.264G>T (p.Leu88=) | gnomAD v4 |
| 1 | g.230710587C>G | CA424036631 | AGT | c.237G>C (p.Leu79=) n.748G>C c.264G>C (p.Leu88=) | |
| 1 | g.230710587C>T | CA424036632 | AGT | c.237G>A (p.Leu79=) n.748G>A c.264G>A (p.Leu88=) | |
| 1 | g.230710588A= | CA1226658572 | AGT | c.236T= (p.Leu79=) n.747T= c.263T= (p.Leu88=) | |
| 1 | g.230710588A>C | CA345207275 | AGT | c.236T>G (p.Leu79Arg) n.747T>G c.263T>G (p.Leu88Arg) | |
| 1 | g.230710588A>G | CA10610217 | AGT | c.236T>C (p.Leu79Pro) n.747T>C c.263T>C (p.Leu88Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.230710588A>T | CA345207277 | AGT | c.236T>A (p.Leu79Gln) n.747T>A c.263T>A (p.Leu88Gln) | |
| 1 | g.230710589G>A | CA424036633 | AGT | c.235C>T (p.Leu79=) n.746C>T c.262C>T (p.Leu88=) | |
| 1 | g.230710589G>C | CA345207278 | AGT | c.235C>G (p.Leu79Val) n.746C>G c.262C>G (p.Leu88Val) | |
| 1 | g.230710589G>T | CA345207280 | AGT | c.235C>A (p.Leu79Met) n.746C>A c.262C>A (p.Leu88Met) | |
| 1 | g.230710590C>A | CA1448345 | AGT | c.234G>T (p.Gln78His) n.745G>T c.261G>T (p.Gln87His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710590C= | CA1226658576 | AGT | c.234G= (p.Gln78=) n.745G= c.261G= (p.Gln87=) | |
| 1 | g.230710590C>G | CA345207282 | AGT | c.234G>C (p.Gln78His) n.745G>C c.261G>C (p.Gln87His) | |
| 1 | g.230710590C>T | CA424036635 | AGT | c.234G>A (p.Gln78=) n.745G>A c.261G>A (p.Gln87=) | |
| 1 | g.230710591T>A | CA345207283 | AGT | c.233A>T (p.Gln78Leu) n.744A>T c.260A>T (p.Gln87Leu) | COSMIC |
| 1 | g.230710591T>C | CA345207284 | AGT | c.233A>G (p.Gln78Arg) n.744A>G c.260A>G (p.Gln87Arg) | |
| 1 | g.230710591T>G | CA345207285 | AGT | c.233A>C (p.Gln78Pro) n.744A>C c.260A>C (p.Gln87Pro) | |
| 1 | g.230710592G>A | CA345207287 | AGT | c.232C>T (p.Gln78Ter) n.743C>T c.259C>T (p.Gln87Ter) | gnomAD v4 |
| 1 | g.230710592G>C | CA345207288 | AGT | c.232C>G (p.Gln78Glu) n.743C>G c.259C>G (p.Gln87Glu) | |
| 1 | g.230710592G>T | CA345207290 | AGT | c.232C>A (p.Gln78Lys) n.743C>A c.259C>A (p.Gln87Lys) | |
| 1 | g.230710593G>A | CA424036637 | AGT | c.231C>T (p.Asp77=) n.742C>T c.258C>T (p.Asp86=) | |
| 1 | g.230710593G>C | CA345207293 | AGT | c.231C>G (p.Asp77Glu) n.742C>G c.258C>G (p.Asp86Glu) | |
| 1 | g.230710593G>T | CA345207294 | AGT | c.231C>A (p.Asp77Glu) n.742C>A c.258C>A (p.Asp86Glu) | |
| 1 | g.230710594T>A | CA345207297 | AGT | c.230A>T (p.Asp77Val) n.741A>T c.257A>T (p.Asp86Val) | gnomAD v4 COSMIC |
| 1 | g.230710594T>C | CA345207301 | AGT | c.230A>G (p.Asp77Gly) n.741A>G c.257A>G (p.Asp86Gly) | |
| 1 | g.230710594T>G | CA345207298 | AGT | c.230A>C (p.Asp77Ala) n.741A>C c.257A>C (p.Asp86Ala) | |
| 1 | g.230710595C>A | CA345207303 | AGT | c.229G>T (p.Asp77Tyr) n.740G>T c.256G>T (p.Asp86Tyr) | |
| 1 | g.230710595C>G | CA345207304 | AGT | c.229G>C (p.Asp77His) n.740G>C c.256G>C (p.Asp86His) | |
| 1 | g.230710595C>T | CA345207305 | AGT | c.229G>A (p.Asp77Asn) n.740G>A c.256G>A (p.Asp86Asn) | |
| 1 | g.230710596C>A | CA345207307 | AGT | c.228G>T (p.Gln76His) n.739G>T c.255G>T (p.Gln85His) | |
| 1 | g.230710596C>G | CA345207309 | AGT | c.228G>C (p.Gln76His) n.739G>C c.255G>C (p.Gln85His) | |
| 1 | g.230710596C>T | CA424036639 | AGT | c.228G>A (p.Gln76=) n.739G>A c.255G>A (p.Gln85=) | |
| 1 | g.230710597T>A | CA345207312 | AGT | c.227A>T (p.Gln76Leu) n.738A>T c.254A>T (p.Gln85Leu) | |
| 1 | g.230710597T>C | CA38872087 | AGT | c.227A>G (p.Gln76Arg) n.738A>G c.254A>G (p.Gln85Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710597T>G | CA345207316 | AGT | c.227A>C (p.Gln76Pro) n.738A>C c.254A>C (p.Gln85Pro) | |
| 1 | g.230710597T= | CA1148884255 | AGT | c.227A= (p.Gln76=) n.738A= c.254A= (p.Gln85=) | |
| 1 | g.230710598G>A | CA1448346 | AGT | c.226C>T (p.Gln76Ter) n.737C>T c.253C>T (p.Gln85Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710598G>C | CA345207319 | AGT | c.226C>G (p.Gln76Glu) n.737C>G c.253C>G (p.Gln85Glu) | |
| 1 | g.230710598G= | CA1226658579 | AGT | c.226C= (p.Gln76=) n.737C= c.253C= (p.Gln85=) | |
| 1 | g.230710598G>T | CA345207320 | AGT | c.226C>A (p.Gln76Lys) n.737C>A c.253C>A (p.Gln85Lys) | |
| 1 | g.230710599T>A | CA424036643 | AGT | c.225A>T (p.Leu75=) n.736A>T c.252A>T (p.Leu84=) | |
| 1 | g.230710599T>C | CA424036645 | AGT | c.225A>G (p.Leu75=) n.736A>G c.252A>G (p.Leu84=) | |
| 1 | g.230710599T>G | CA424036646 | AGT | c.225A>C (p.Leu75=) n.736A>C c.252A>C (p.Leu84=) | gnomAD v4 |
| 1 | g.230710600A= | CA1140727500 | AGT | c.224T= (p.Leu75=) n.735T= c.251T= (p.Leu84=) | |
| 1 | g.230710600A>C | CA345207323 | AGT | c.224T>G (p.Leu75Arg) n.735T>G c.251T>G (p.Leu84Arg) | |
| 1 | g.230710600A>G | CA1448347 | AGT | c.224T>C (p.Leu75Pro) n.735T>C c.251T>C (p.Leu84Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710600A>T | CA345207325 | AGT | c.224T>A (p.Leu75Gln) n.735T>A c.251T>A (p.Leu84Gln) | |
| 1 | g.230710601G>A | CA424036650 | AGT | c.223C>T (p.Leu75=) n.734C>T c.250C>T (p.Leu84=) | |
| 1 | g.230710601G>C | CA345207328 | AGT | c.223C>G (p.Leu75Val) n.734C>G c.250C>G (p.Leu84Val) | |
| 1 | g.230710601G>T | CA345207329 | AGT | c.223C>A (p.Leu75Ile) n.734C>A c.250C>A (p.Leu84Ile) | |
| 1 | g.230710602G>A | CA38872092 | AGT | c.222C>T (p.Ala74=) n.733C>T c.249C>T (p.Ala83=) | dbSNP gnomAD v4 |
| 1 | g.230710602G>C | CA424036652 | AGT | c.222C>G (p.Ala74=) n.733C>G c.249C>G (p.Ala83=) | |
| 1 | g.230710602G= | CA1226658582 | AGT | c.222C= (p.Ala74=) n.733C= c.249C= (p.Ala83=) | |
| 1 | g.230710602G>T | CA424036654 | AGT | c.222C>A (p.Ala74=) n.733C>A c.249C>A (p.Ala83=) | |
| 1 | g.230710603G>A | CA1448348 | AGT | c.221C>T (p.Ala74Val) n.732C>T c.248C>T (p.Ala83Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710603G>C | CA345207335 | AGT | c.221C>G (p.Ala74Gly) n.732C>G c.248C>G (p.Ala83Gly) | gnomAD v4 |
| 1 | g.230710603G= | CA1141771925 | AGT | c.221C= (p.Ala74=) n.732C= c.248C= (p.Ala83=) | |
| 1 | g.230710603G>T | CA345207336 | AGT | c.221C>A (p.Ala74Asp) n.732C>A c.248C>A (p.Ala83Asp) | dbSNP |
| 1 | g.230710604C>A | CA345207338 | AGT | c.220G>T (p.Ala74Ser) n.731G>T c.247G>T (p.Ala83Ser) | gnomAD v4 |
| 1 | g.230710604C= | CA1226658585 | AGT | c.220G= (p.Ala74=) n.731G= c.247G= (p.Ala83=) | |
| 1 | g.230710604C>G | CA1448349 | AGT | c.220G>C (p.Ala74Pro) n.731G>C c.247G>C (p.Ala83Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710604C>T | CA345207339 | AGT | c.220G>A (p.Ala74Thr) n.731G>A c.247G>A (p.Ala83Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710605C>A | CA345207343 | AGT | c.219G>T (p.Lys73Asn) n.730G>T c.246G>T (p.Lys82Asn) | |
| 1 | g.230710605C= | CA1226658586 | AGT | c.219G= (p.Lys73=) n.730G= c.246G= (p.Lys82=) | |
| 1 | g.230710605C>G | CA345207344 | AGT | c.219G>C (p.Lys73Asn) n.730G>C c.246G>C (p.Lys82Asn) | |
| 1 | g.230710605C>T | CA424036658 | AGT | c.219G>A (p.Lys73=) n.730G>A c.246G>A (p.Lys82=) | dbSNP |
| 1 | g.230710606T>A | CA345207346 | AGT | c.218A>T (p.Lys73Met) n.729A>T c.245A>T (p.Lys82Met) | |
| 1 | g.230710606T>C | CA345207348 | AGT | c.218A>G (p.Lys73Arg) n.729A>G c.245A>G (p.Lys82Arg) | |
| 1 | g.230710606T>G | CA345207350 | AGT | c.218A>C (p.Lys73Thr) n.729A>C c.245A>C (p.Lys82Thr) | |
| 1 | g.230710607T>A | CA345207352 | AGT | c.217A>T (p.Lys73Ter) n.728A>T c.244A>T (p.Lys82Ter) | |
| 1 | g.230710607T>C | CA345207354 | AGT | c.217A>G (p.Lys73Glu) n.728A>G c.244A>G (p.Lys82Glu) | |
| 1 | g.230710607T>G | CA345207355 | AGT | c.217A>C (p.Lys73Gln) n.728A>C c.244A>C (p.Lys82Gln) | |
| 1 | g.230710608T>A | CA345207356 | AGT | c.216A>T (p.Glu72Asp) n.727A>T c.243A>T (p.Glu81Asp) | |
| 1 | g.230710608T>C | CA424036661 | AGT | c.216A>G (p.Glu72=) n.727A>G c.243A>G (p.Glu81=) | gnomAD v4 |
| 1 | g.230710608T>G | CA345207357 | AGT | c.216A>C (p.Glu72Asp) n.727A>C c.243A>C (p.Glu81Asp) | |
| 1 | g.230710609T>A | CA345207358 | AGT | c.215A>T (p.Glu72Val) n.726A>T c.242A>T (p.Glu81Val) | |
| 1 | g.230710609T>C | CA345207359 | AGT | c.215A>G (p.Glu72Gly) n.726A>G c.242A>G (p.Glu81Gly) | |
| 1 | g.230710609T>G | CA345207361 | AGT | c.215A>C (p.Glu72Ala) n.726A>C c.242A>C (p.Glu81Ala) | |
| 1 | g.230710610C>A | CA345207366 | AGT | c.214G>T (p.Glu72Ter) n.725G>T c.241G>T (p.Glu81Ter) | gnomAD v4 |
| 1 | g.230710610C>G | CA345207364 | AGT | c.214G>C (p.Glu72Gln) n.725G>C c.241G>C (p.Glu81Gln) | gnomAD v4 |
| 1 | g.230710610C>T | CA345207365 | AGT | c.214G>A (p.Glu72Lys) n.725G>A c.241G>A (p.Glu81Lys) | |
| 1 | g.230710611A= | CA1226658588 | AGT | c.213T= (p.Asp71=) n.724T= c.240T= (p.Asp80=) | |
| 1 | g.230710611A>C | CA345207369 | AGT | c.213T>G (p.Asp71Glu) n.724T>G c.240T>G (p.Asp80Glu) | gnomAD v4 |
| 1 | g.230710611A>G | CA424036665 | AGT | c.213T>C (p.Asp71=) n.724T>C c.240T>C (p.Asp80=) | |
| 1 | g.230710611A>T | CA1448350 | AGT | c.213T>A (p.Asp71Glu) n.724T>A c.240T>A (p.Asp80Glu) | dbSNP ExAC gnomAD v2 |
| 1 | g.230710612T>A | CA345207371 | AGT | c.212A>T (p.Asp71Val) n.723A>T c.239A>T (p.Asp80Val) | gnomAD v4 |
| 1 | g.230710612T>C | CA345207372 | AGT | c.212A>G (p.Asp71Gly) n.723A>G c.239A>G (p.Asp80Gly) | |
| 1 | g.230710612T>G | CA345207373 | AGT | c.212A>C (p.Asp71Ala) n.723A>C c.239A>C (p.Asp80Ala) | |
| 1 | g.230710613C>A | CA345207375 | AGT | c.211G>T (p.Asp71Tyr) n.722G>T c.238G>T (p.Asp80Tyr) | |
| 1 | g.230710613C>G | CA345207377 | AGT | c.211G>C (p.Asp71His) n.722G>C c.238G>C (p.Asp80His) | |
| 1 | g.230710613C>T | CA345207379 | AGT | c.211G>A (p.Asp71Asn) n.722G>A c.238G>A (p.Asp80Asn) | |
| 1 | g.230710614C>A | CA424036667 | AGT | c.210G>T (p.Val70=) n.721G>T c.237G>T (p.Val79=) | |
| 1 | g.230710614C>G | CA424036668 | AGT | c.210G>C (p.Val70=) n.721G>C c.237G>C (p.Val79=) | |
| 1 | g.230710614C>T | CA424036669 | AGT | c.210G>A (p.Val70=) n.721G>A c.237G>A (p.Val79=) | COSMIC |
| 1 | g.230710615A>C | CA345207380 | AGT | c.209T>G (p.Val70Gly) n.720T>G c.236T>G (p.Val79Gly) | |
| 1 | g.230710615A>G | CA345207382 | AGT | c.209T>C (p.Val70Ala) n.720T>C c.236T>C (p.Val79Ala) | |
| 1 | g.230710615A>T | CA345207384 | AGT | c.209T>A (p.Val70Glu) n.720T>A c.236T>A (p.Val79Glu) | |
| 1 | g.230710616C>A | CA345207388 | AGT | c.208G>T (p.Val70Leu) n.719G>T c.235G>T (p.Val79Leu) | |
| 1 | g.230710616C>G | CA345207386 | AGT | c.208G>C (p.Val70Leu) n.719G>C c.235G>C (p.Val79Leu) | |
| 1 | g.230710616C>T | CA345207387 | AGT | c.208G>A (p.Val70Met) n.719G>A c.235G>A (p.Val79Met) | |
| 1 | g.230710617A>C | CA424036676 | AGT | c.207T>G (p.Pro69=) n.718T>G c.234T>G (p.Pro78=) | |
| 1 | g.230710617A>G | CA424036677 | AGT | c.207T>C (p.Pro69=) n.718T>C c.234T>C (p.Pro78=) | |
| 1 | g.230710617A>T | CA424036678 | AGT | c.207T>A (p.Pro69=) n.718T>A c.234T>A (p.Pro78=) | |
| 1 | g.230710618G>A | CA345207391 | AGT | c.206C>T (p.Pro69Leu) n.717C>T c.233C>T (p.Pro78Leu) | gnomAD v4 |
| 1 | g.230710618G>C | CA345207394 | AGT | c.206C>G (p.Pro69Arg) n.717C>G c.233C>G (p.Pro78Arg) | |
| 1 | g.230710618G= | CA1226658591 | AGT | c.206C= (p.Pro69=) n.717C= c.233C= (p.Pro78=) | |
| 1 | g.230710618G>T | CA345207393 | AGT | c.206C>A (p.Pro69His) n.717C>A c.233C>A (p.Pro78His) | dbSNP |
| 1 | g.230710619G>A | CA1448351 | AGT | c.205C>T (p.Pro69Ser) n.716C>T c.232C>T (p.Pro78Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710619G>C | CA345207397 | AGT | c.205C>G (p.Pro69Ala) n.716C>G c.232C>G (p.Pro78Ala) | |
| 1 | g.230710619G= | CA1226658598 | AGT | c.205C= (p.Pro69=) n.716C= c.232C= (p.Pro78=) | |
| 1 | g.230710619G>T | CA345207399 | AGT | c.205C>A (p.Pro69Thr) n.716C>A c.232C>A (p.Pro78Thr) | |
| 1 | g.230710620G>A | CA38872113 | AGT | c.204C>T (p.Ser68=) n.715C>T c.231C>T (p.Ser77=) | dbSNP COSMIC |
| 1 | g.230710620G>C | CA424036685 | AGT | c.204C>G (p.Ser68=) n.715C>G c.231C>G (p.Ser77=) | |
| 1 | g.230710620G= | CA1226658603 | AGT | c.204C= (p.Ser68=) n.715C= c.231C= (p.Ser77=) | |
| 1 | g.230710620G>T | CA424036686 | AGT | c.204C>A (p.Ser68=) n.715C>A c.231C>A (p.Ser77=) | gnomAD v4 |
| 1 | g.230710621G>A | CA1448352 | AGT | c.203C>T (p.Ser68Phe) n.714C>T c.230C>T (p.Ser77Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710621G>C | CA345207403 | AGT | c.203C>G (p.Ser68Cys) n.714C>G c.230C>G (p.Ser77Cys) | ClinVar |
| 1 | g.230710621G= | CA1226658607 | AGT | c.203C= (p.Ser68=) n.714C= c.230C= (p.Ser77=) | |
| 1 | g.230710621G>T | CA345207404 | AGT | c.203C>A (p.Ser68Tyr) n.714C>A c.230C>A (p.Ser77Tyr) | gnomAD v4 |
| 1 | g.230710622A= | CA1226658610 | AGT | c.202T= (p.Ser68=) n.713T= c.229T= (p.Ser77=) | |
| 1 | g.230710622A>C | CA345207405 | AGT | c.202T>G (p.Ser68Ala) n.713T>G c.229T>G (p.Ser77Ala) | |
| 1 | g.230710622A>G | CA345207406 | AGT | c.202T>C (p.Ser68Pro) n.713T>C c.229T>C (p.Ser77Pro) | |
| 1 | g.230710622A>T | CA38872131 | AGT | c.202T>A (p.Ser68Thr) n.713T>A c.229T>A (p.Ser77Thr) | dbSNP gnomAD v4 |
| 1 | g.230710623T>A | CA424036687 | AGT | c.201A>T (p.Thr67=) n.712A>T c.228A>T (p.Thr76=) | |
| 1 | g.230710623T>C | CA424036688 | AGT | c.201A>G (p.Thr67=) n.712A>G c.228A>G (p.Thr76=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710623T>G | CA424036689 | AGT | c.201A>C (p.Thr67=) n.712A>C c.228A>C (p.Thr76=) | |
| 1 | g.230710623T= | CA1226658612 | AGT | c.201A= (p.Thr67=) n.712A= c.228A= (p.Thr76=) | |
| 1 | g.230710624G>A | CA345207407 | AGT | c.200C>T (p.Thr67Ile) n.711C>T c.227C>T (p.Thr76Ile) | dbSNP |
| 1 | g.230710624G>C | CA345207408 | AGT | c.200C>G (p.Thr67Arg) n.711C>G c.227C>G (p.Thr76Arg) | |
| 1 | g.230710624G= | CA1226658618 | AGT | c.200C= (p.Thr67=) n.711C= c.227C= (p.Thr76=) | |
| 1 | g.230710624G>T | CA345207409 | AGT | c.200C>A (p.Thr67Lys) n.711C>A c.227C>A (p.Thr76Lys) | |
| 1 | g.230710625T>A | CA345207410 | AGT | c.199A>T (p.Thr67Ser) n.710A>T c.226A>T (p.Thr76Ser) | |
| 1 | g.230710625T>C | CA1448353 | AGT | c.199A>G (p.Thr67Ala) n.710A>G c.226A>G (p.Thr76Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.230710625T>G | CA345207411 | AGT | c.199A>C (p.Thr67Pro) n.710A>C c.226A>C (p.Thr76Pro) | |
| 1 | g.230710625T= | CA1226658623 | AGT | c.199A= (p.Thr67=) n.710A= c.226A= (p.Thr76=) | |
| 1 | g.230710626C>A | CA345207412 | AGT | c.198G>T (p.Lys66Asn) n.709G>T c.225G>T (p.Lys75Asn) | |
| 1 | g.230710626C>G | CA345207413 | AGT | c.198G>C (p.Lys66Asn) n.709G>C c.225G>C (p.Lys75Asn) | |
| 1 | g.230710626C>T | CA424036696 | AGT | c.198G>A (p.Lys66=) n.709G>A c.225G>A (p.Lys75=) | |
| 1 | g.230710627T>A | CA345207414 | AGT | c.197A>T (p.Lys66Met) n.708A>T c.224A>T (p.Lys75Met) | |
| 1 | g.230710627T>C | CA345207415 | AGT | c.197A>G (p.Lys66Arg) n.708A>G c.224A>G (p.Lys75Arg) | |
| 1 | g.230710627T>G | CA345207416 | AGT | c.197A>C (p.Lys66Thr) n.708A>C c.224A>C (p.Lys75Thr) | |
| 1 | g.230710628T>A | CA345207417 | AGT | c.196A>T (p.Lys66Ter) n.707A>T c.223A>T (p.Lys75Ter) | |
| 1 | g.230710628T>C | CA345207418 | AGT | c.196A>G (p.Lys66Glu) n.707A>G c.223A>G (p.Lys75Glu) | |
| 1 | g.230710628T>G | CA345207419 | AGT | c.196A>C (p.Lys66Gln) n.707A>C c.223A>C (p.Lys75Gln) | |
| 1 | g.230710629G>A | CA424036703 | AGT | c.195C>T (p.Ala65=) n.706C>T c.222C>T (p.Ala74=) | |
| 1 | g.230710629G>C | CA424036705 | AGT | c.195C>G (p.Ala65=) n.706C>G c.222C>G (p.Ala74=) | |
| 1 | g.230710629G>T | CA424036706 | AGT | c.195C>A (p.Ala65=) n.706C>A c.222C>A (p.Ala74=) | |
| 1 | g.230710630G>A | CA38872146 | AGT | c.194C>T (p.Ala65Val) n.705C>T c.221C>T (p.Ala74Val) | dbSNP COSMIC |
| 1 | g.230710630G>C | CA345207420 | AGT | c.194C>G (p.Ala65Gly) n.705C>G c.221C>G (p.Ala74Gly) | |
| 1 | g.230710630G= | CA1143491785 | AGT | c.194C= (p.Ala65=) n.705C= c.221C= (p.Ala74=) | |
| 1 | g.230710630G>T | CA345207421 | AGT | c.194C>A (p.Ala65Asp) n.705C>A c.221C>A (p.Ala74Asp) | |
| 1 | g.230710631C>A | CA345207423 | AGT | c.193G>T (p.Ala65Ser) n.704G>T c.220G>T (p.Ala74Ser) | gnomAD v4 |
| 1 | g.230710631C= | CA1141823366 | AGT | c.193G= (p.Ala65=) n.704G= c.220G= (p.Ala74=) | |
| 1 | g.230710631C>G | CA1448354 | AGT | c.193G>C (p.Ala65Pro) n.704G>C c.220G>C (p.Ala74Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710631C>T | CA345207422 | AGT | c.193G>A (p.Ala65Thr) n.704G>A c.220G>A (p.Ala74Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710632C>A | CA345207425 | AGT | c.192G>T (p.Gln64His) n.703G>T c.219G>T (p.Gln73His) | |
| 1 | g.230710632C>G | CA345207424 | AGT | c.192G>C (p.Gln64His) n.703G>C c.219G>C (p.Gln73His) | |
| 1 | g.230710632C>T | CA424036709 | AGT | c.192G>A (p.Gln64=) n.703G>A c.219G>A (p.Gln73=) | |
| 1 | g.230710633T>A | CA345207426 | AGT | c.191A>T (p.Gln64Leu) n.702A>T c.218A>T (p.Gln73Leu) | |
| 1 | g.230710633T>C | CA345207427 | AGT | c.191A>G (p.Gln64Arg) n.702A>G c.218A>G (p.Gln73Arg) | |
| 1 | g.230710633T>G | CA345207428 | AGT | c.191A>C (p.Gln64Pro) n.702A>C c.218A>C (p.Gln73Pro) | |
| 1 | g.230710634G>A | CA1448355 | AGT | c.190C>T (p.Gln64Ter) n.701C>T c.217C>T (p.Gln73Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710634G>C | CA345207429 | AGT | c.190C>G (p.Gln64Glu) n.701C>G c.217C>G (p.Gln73Glu) | |
| 1 | g.230710634G= | CA1226658636 | AGT | c.190C= (p.Gln64=) n.701C= c.217C= (p.Gln73=) | |
| 1 | g.230710634G>T | CA345207430 | AGT | c.190C>A (p.Gln64Lys) n.701C>A c.217C>A (p.Gln73Lys) | |
| 1 | g.230710635A>C | CA345207431 | AGT | c.189T>G (p.Ile63Met) n.700T>G c.216T>G (p.Ile72Met) | |
| 1 | g.230710635A>G | CA424036713 | AGT | c.189T>C (p.Ile63=) n.700T>C c.216T>C (p.Ile72=) | |
| 1 | g.230710635A>T | CA424036715 | AGT | c.189T>A (p.Ile63=) n.700T>A c.216T>A (p.Ile72=) | |
| 1 | g.230710636A>C | CA345207432 | AGT | c.188T>G (p.Ile63Ser) n.699T>G c.215T>G (p.Ile72Ser) | |
| 1 | g.230710636A>G | CA345207433 | AGT | c.188T>C (p.Ile63Thr) n.699T>C c.215T>C (p.Ile72Thr) | gnomAD v4 |
| 1 | g.230710636A>T | CA345207434 | AGT | c.188T>A (p.Ile63Asn) n.699T>A c.215T>A (p.Ile72Asn) | |
| 1 | g.230710637T>A | CA345207435 | AGT | c.187A>T (p.Ile63Phe) n.698A>T c.214A>T (p.Ile72Phe) | |
| 1 | g.230710637T>C | CA345207436 | AGT | c.187A>G (p.Ile63Val) n.698A>G c.214A>G (p.Ile72Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710637T>G | CA345207437 | AGT | c.187A>C (p.Ile63Leu) n.698A>C c.214A>C (p.Ile72Leu) | |
| 1 | g.230710637T= | CA1226658637 | AGT | c.187A= (p.Ile63=) n.698A= c.214A= (p.Ile72=) | |
| 1 | g.230710638T>A | CA424036718 | AGT | c.186A>T (p.Pro62=) n.697A>T c.213A>T (p.Pro71=) | |
| 1 | g.230710638T>C | CA424036720 | AGT | c.186A>G (p.Pro62=) n.697A>G c.213A>G (p.Pro71=) | dbSNP |
| 1 | g.230710638T>G | CA424036722 | AGT | c.186A>C (p.Pro62=) n.697A>C c.213A>C (p.Pro71=) | |
| 1 | g.230710639G>A | CA1448356 | AGT | c.185C>T (p.Pro62Leu) n.696C>T c.212C>T (p.Pro71Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710639G>C | CA345207439 | AGT | c.185C>G (p.Pro62Arg) n.696C>G c.212C>G (p.Pro71Arg) | |
| 1 | g.230710639G= | CA1141289042 | AGT | c.185C= (p.Pro62=) n.696C= c.212C= (p.Pro71=) | |
| 1 | g.230710639G>T | CA345207438 | AGT | c.185C>A (p.Pro62Gln) n.696C>A c.212C>A (p.Pro71Gln) | |
| 1 | g.230710640G>A | CA345207440 | AGT | c.184C>T (p.Pro62Ser) n.695C>T c.211C>T (p.Pro71Ser) | |
| 1 | g.230710640G>C | CA345207441 | AGT | c.184C>G (p.Pro62Ala) n.695C>G c.211C>G (p.Pro71Ala) | |
| 1 | g.230710640G>T | CA345207442 | AGT | c.184C>A (p.Pro62Thr) n.695C>A c.211C>A (p.Pro71Thr) | COSMIC |
| 1 | g.230710641A>C | CA424036725 | AGT | c.183T>G (p.Ala61=) n.694T>G c.210T>G (p.Ala70=) | |
| 1 | g.230710641A>G | CA424036726 | AGT | c.183T>C (p.Ala61=) n.694T>C c.210T>C (p.Ala70=) | |
| 1 | g.230710641A>T | CA424036727 | AGT | c.183T>A (p.Ala61=) n.694T>A c.210T>A (p.Ala70=) | gnomAD v4 |
| 1 | g.230710642G>A | CA345207443 | AGT | c.182C>T (p.Ala61Val) n.693C>T c.209C>T (p.Ala70Val) | gnomAD v4 |
| 1 | g.230710642G>C | CA345207444 | AGT | c.182C>G (p.Ala61Gly) n.693C>G c.209C>G (p.Ala70Gly) | |
| 1 | g.230710642G>T | CA345207445 | AGT | c.182C>A (p.Ala61Asp) n.693C>A c.209C>A (p.Ala70Asp) | COSMIC |
| 1 | g.230710643C>A | CA345207446 | AGT | c.181G>T (p.Ala61Ser) n.692G>T c.208G>T (p.Ala70Ser) | |
| 1 | g.230710643C= | CA1146203446 | AGT | c.181G= (p.Ala61=) n.692G= c.208G= (p.Ala70=) | |
| 1 | g.230710643C>G | CA345207447 | AGT | c.181G>C (p.Ala61Pro) n.692G>C c.208G>C (p.Ala70Pro) | |
| 1 | g.230710643C>T | CA38872188 | AGT | c.181G>A (p.Ala61Thr) n.692G>A c.208G>A (p.Ala70Thr) | dbSNP gnomAD v4 |
| 1 | g.230710644A= | CA1226658641 | AGT | c.180T= (p.Pro60=) n.691T= c.207T= (p.Pro69=) | |
| 1 | g.230710644A>C | CA424036731 | AGT | c.180T>G (p.Pro60=) n.691T>G c.207T>G (p.Pro69=) | gnomAD v4 |
| 1 | g.230710644A>G | CA424036730 | AGT | c.180T>C (p.Pro60=) n.691T>C c.207T>C (p.Pro69=) | dbSNP |
| 1 | g.230710644A>T | CA424036729 | AGT | c.180T>A (p.Pro60=) n.691T>A c.207T>A (p.Pro69=) | |
| 1 | g.230710645G>A | CA1448357 | AGT | c.179C>T (p.Pro60Leu) n.690C>T c.206C>T (p.Pro69Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710645G>C | CA345207448 | AGT | c.179C>G (p.Pro60Arg) n.690C>G c.206C>G (p.Pro69Arg) | |
| 1 | g.230710645G= | CA1147552511 | AGT | c.179C= (p.Pro60=) n.690C= c.206C= (p.Pro69=) | |
| 1 | g.230710645G>T | CA345207449 | AGT | c.179C>A (p.Pro60His) n.690C>A c.206C>A (p.Pro69His) |