Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41869091_41869108del | CA2695228814 | RPS19 | c.246_263del (p.Asp82_Ser87del) c.233_250del (p.Ile78_Gln83del) c.11_28del (p.Ile4_Gln9del) c.1071_1088del (n.1071_1088del) | |
19 | g.41869106A>C | CA406030261 | RPS19 | c.261A>C (p.Ser87=) c.248A>C (p.Gln83Pro) c.26A>C (p.Gln9Pro) c.1086A>C (n.1086A>C) | |
19 | g.41869106A>G | CA406030263 | RPS19 | c.261A>G (p.Ser87=) c.248A>G (p.Gln83Arg) c.26A>G (p.Gln9Arg) c.1086A>G (n.1086A>G) | gnomAD v4 |
19 | g.41869106A>T | CA406030264 | RPS19 | c.261A>T (p.Ser87=) c.248A>T (p.Gln83Leu) c.26A>T (p.Gln9Leu) c.1086A>T (n.1086A>T) | |
19 | g.41869106dup | CA2695228819 | RPS19 | c.261dup (p.Glu88ArgfsTer?) c.248dup (p.Arg84GlufsTer?) c.26dup (p.Arg10GlufsTer?) c.1086dup (n.1086dup) c.261dup (p.Glu88ArgfsTer28) | |
19 | g.41869109_41869110del | CA2695228818 | RPS19 | c.264_265del (p.Lys89ThrfsTer?) c.251_252del (p.Arg84LysfsTer?) c.29_30del (p.Arg10LysfsTer?) c.1089_1090del (n.1089_1090del) c.264_265del (p.Lys89ThrfsTer26) | |
19 | g.41869107G>A | CA406030265 | RPS19 | c.262G>A (p.Glu88Lys) c.249G>A (p.Gln83=) c.27G>A (p.Gln9=) c.1087G>A (n.1087G>A) | dbSNP |
19 | g.41869107G>C | CA406030266 | RPS19 | c.262G>C (p.Glu88Gln) c.249G>C (p.Gln83His) c.27G>C (p.Gln9His) c.1087G>C (n.1087G>C) | |
19 | g.41869107G= | CA2336668877 | RPS19 | c.262G= (p.Glu88=) c.249G= (p.Gln83=) c.27G= (p.Gln9=) c.1087G= (n.1087G=) | |
19 | g.41869107G>T | CA406030268 | RPS19 | c.262G>T (p.Glu88Ter) c.249G>T (p.Gln83His) c.27G>T (p.Gln9His) c.1087G>T (n.1087G>T) | |
19 | g.41869108A= | CA2336668878 | RPS19 | c.263A= (p.Glu88=) c.250A= (p.Arg84=) c.28A= (p.Arg10=) c.1088A= (n.1088A=) | |
19 | g.41869108A>C | CA406030270 | RPS19 | c.263A>C (p.Glu88Ala) c.250A>C (p.Arg84=) c.28A>C (p.Arg10=) c.1088A>C (n.1088A>C) | |
19 | g.41869108A>G | CA406030272 | RPS19 | c.263A>G (p.Glu88Gly) c.250A>G (p.Arg84Gly) c.28A>G (p.Arg10Gly) c.1088A>G (n.1088A>G) | gnomAD v4 |
19 | g.41869108A>T | CA130766 | RPS19 | c.263A>T (p.Glu88Val) c.250A>T (p.Arg84Ter) c.28A>T (p.Arg10Ter) c.1088A>T (n.1088A>T) | ClinVar dbSNP |
19 | g.41869108dup | CA2695228820 | RPS19 | c.263dup (p.Lys89GlufsTer?) c.250dup (p.Arg84LysfsTer?) c.28dup (p.Arg10LysfsTer?) c.1088dup (n.1088dup) c.263dup (p.Lys89GlufsTer27) | |
19 | g.41869109del | CA2695228821 | RPS19 | c.264del (p.Lys89AsnfsTer?) c.251del (p.Arg84LysfsTer27) c.29del (p.Arg10LysfsTer27) c.1089del (n.1089del) | |
19 | g.41869109G>A | CA406030274 | RPS19 | c.264G>A (p.Glu88=) c.251G>A (p.Arg84Lys) c.29G>A (p.Arg10Lys) c.1089G>A (n.1089G>A) | |
19 | g.41869109G>C | CA406030275 | RPS19 | c.264G>C (p.Glu88Asp) c.251G>C (p.Arg84Thr) c.29G>C (p.Arg10Thr) c.1089G>C (n.1089G>C) | |
19 | g.41869109G>T | CA406030278 | RPS19 | c.264G>T (p.Glu88Asp) c.251G>T (p.Arg84Ile) c.29G>T (p.Arg10Ile) c.1089G>T (n.1089G>T) | |
19 | g.41869110A= | CA2336668879 | RPS19 | c.265A= (p.Lys89=) c.252A= (p.Arg84=) c.30A= (p.Arg10=) c.1090A= (n.1090A=) | |
19 | g.41869110A>C | CA406030280 | RPS19 | c.265A>C (p.Lys89Gln) c.252A>C (p.Arg84Ser) c.30A>C (p.Arg10Ser) c.1090A>C (n.1090A>C) | |
19 | g.41869110A>G | CA406030284 | RPS19 | c.265A>G (p.Lys89Glu) c.252A>G (p.Arg84=) c.30A>G (p.Arg10=) c.1090A>G (n.1090A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869110A>T | CA406030282 | RPS19 | c.265A>T (p.Lys89Ter) c.252A>T (p.Arg84Ser) c.30A>T (p.Arg10Ser) c.1090A>T (n.1090A>T) | |
19 | g.41869111A>C | CA406030286 | RPS19 | c.266A>C (p.Lys89Thr) c.253A>C (p.Asn85His) c.31A>C (p.Asn11His) c.1091A>C (n.1091A>C) | |
19 | g.41869111A>G | CA406030288 | RPS19 | c.266A>G (p.Lys89Arg) c.253A>G (p.Asn85Asp) c.31A>G (p.Asn11Asp) c.1091A>G (n.1091A>G) | |
19 | g.41869111A>T | CA406030290 | RPS19 | c.266A>T (p.Lys89Ile) c.253A>T (p.Asn85Tyr) c.31A>T (p.Asn11Tyr) c.1091A>T (n.1091A>T) | |
19 | g.41869112A= | CA2336668880 | RPS19 | c.267A= (p.Lys89=) c.254A= (p.Asn85=) c.32A= (p.Asn11=) c.1092A= (n.1092A=) | |
19 | g.41869112A>C | CA406030293 | RPS19 | c.267A>C (p.Lys89Asn) c.254A>C (p.Asn85Thr) c.32A>C (p.Asn11Thr) c.1092A>C (n.1092A>C) | dbSNP |
19 | g.41869112A>G | CA406030296 | RPS19 | c.267A>G (p.Lys89=) c.254A>G (p.Asn85Ser) c.32A>G (p.Asn11Ser) c.1092A>G (n.1092A>G) | |
19 | g.41869112A>T | CA406030297 | RPS19 | c.267A>T (p.Lys89Asn) c.254A>T (p.Asn85Ile) c.32A>T (p.Asn11Ile) c.1092A>T (n.1092A>T) | |
19 | g.41869113C>A | CA406030300 | RPS19 | c.268C>A (p.Arg90=) c.255C>A (p.Asn85Lys) c.33C>A (p.Asn11Lys) c.1093C>A (n.1093C>A) | |
19 | g.41869113C= | CA2336668881 | RPS19 | c.268C= (p.Arg90=) c.255C= (p.Asn85=) c.33C= (p.Asn11=) c.1093C= (n.1093C=) | |
19 | g.41869113C>G | CA406030302 | RPS19 | c.268C>G (p.Arg90Gly) c.255C>G (p.Asn85Lys) c.33C>G (p.Asn11Lys) c.1093C>G (n.1093C>G) | |
19 | g.41869113C>T | CA9465356 | RPS19 | c.268C>T (p.Arg90Trp) c.255C>T (p.Asn85=) c.33C>T (p.Asn11=) c.1093C>T (n.1093C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869114G>A | CA406030305 | RPS19 | c.269G>A (p.Arg90Gln) c.256G>A (p.Gly86Ser) c.34G>A (p.Gly12Ser) c.1094G>A (n.1094G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869114G>C | CA406030307 | RPS19 | c.269G>C (p.Arg90Pro) c.256G>C (p.Gly86Arg) c.34G>C (p.Gly12Arg) c.1094G>C (n.1094G>C) | |
19 | g.41869114G= | CA2336668882 | RPS19 | c.269G= (p.Arg90=) c.256G= (p.Gly86=) c.34G= (p.Gly12=) c.1094G= (n.1094G=) | |
19 | g.41869114G>T | CA406030309 | RPS19 | c.269G>T (p.Arg90Leu) c.256G>T (p.Gly86Cys) c.34G>T (p.Gly12Cys) c.1094G>T (n.1094G>T) | |
19 | g.41869115dup | CA1139666469 | RPS19 | c.270dup (p.Arg91AlafsTer?) c.257dup (p.Val87ArgfsTer?) c.35dup (p.Val13ArgfsTer?) c.1095dup (n.1095dup) c.270dup (p.Arg91AlafsTer25) | ClinVar dbSNP |
19 | g.41869115G>A | CA406030316 | RPS19 | c.270G>A (p.Arg90=) c.257G>A (p.Gly86Asp) c.35G>A (p.Gly12Asp) c.1095G>A (n.1095G>A) | |
19 | g.41869115G>C | CA406030312 | RPS19 | c.270G>C (p.Arg90=) c.257G>C (p.Gly86Ala) c.35G>C (p.Gly12Ala) c.1095G>C (n.1095G>C) | |
19 | g.41869115G>T | CA406030314 | RPS19 | c.270G>T (p.Arg90=) c.257G>T (p.Gly86Val) c.35G>T (p.Gly12Val) c.1095G>T (n.1095G>T) | |
19 | g.41869115_41869116insA | CA2695228822 | RPS19 | c.270_271insA (p.Arg91ThrfsTer?) c.257_258insA (p.Val87ArgfsTer?) c.35_36insA (p.Val13ArgfsTer?) c.1095_1096insA (n.1095_1096insA) c.270_271insA (p.Arg91ThrfsTer25) | |
19 | g.41869116C>A | CA406030318 | RPS19 | c.271C>A (p.Arg91Ser) c.258C>A (p.Gly86=) c.36C>A (p.Gly12=) c.1096C>A (n.1096C>A) | |
19 | g.41869116C= | CA2336668883 | RPS19 | c.271C= (p.Arg91=) c.258C= (p.Gly86=) c.36C= (p.Gly12=) c.1096C= (n.1096C=) | |
19 | g.41869116C>G | CA406030320 | RPS19 | c.271C>G (p.Arg91Gly) c.258C>G (p.Gly86=) c.36C>G (p.Gly12=) c.1096C>G (n.1096C>G) | |
19 | g.41869116C>T | CA9465357 | RPS19 | c.271C>T (p.Arg91Cys) c.258C>T (p.Gly86=) c.36C>T (p.Gly12=) c.1096C>T (n.1096C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869117G>A | CA9465358 | RPS19 | c.272G>A (p.Arg91His) c.259G>A (p.Val87Ile) c.37G>A (p.Val13Ile) c.1097G>A (n.1097G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869117G>C | CA406030328 | RPS19 | c.272G>C (p.Arg91Pro) c.259G>C (p.Val87Leu) c.37G>C (p.Val13Leu) c.1097G>C (n.1097G>C) | |
19 | g.41869117G= | CA2336668884 | RPS19 | c.272G= (p.Arg91=) c.259G= (p.Val87=) c.37G= (p.Val13=) c.1097G= (n.1097G=) | |
19 | g.41869117G>T | CA406030331 | RPS19 | c.272G>T (p.Arg91Leu) c.259G>T (p.Val87Phe) c.37G>T (p.Val13Phe) c.1097G>T (n.1097G>T) | |
19 | g.41869118T>A | CA406030334 | RPS19 | c.273T>A (p.Arg91=) c.260T>A (p.Val87Asp) c.38T>A (p.Val13Asp) c.1098T>A (n.1098T>A) | |
19 | g.41869118T>C | CA406030335 | RPS19 | c.273T>C (p.Arg91=) c.260T>C (p.Val87Ala) c.38T>C (p.Val13Ala) c.1098T>C (n.1098T>C) | |
19 | g.41869118T>G | CA406030337 | RPS19 | c.273T>G (p.Arg91=) c.260T>G (p.Val87Gly) c.38T>G (p.Val13Gly) c.1098T>G (n.1098T>G) | |
19 | g.41869119C>A | CA406030340 | RPS19 | c.274C>A (p.His92Asn) c.261C>A (p.Val87=) c.39C>A (p.Val13=) c.1099C>A (n.1099C>A) | |
19 | g.41869119C>G | CA406030341 | RPS19 | c.274C>G (p.His92Asp) c.261C>G (p.Val87=) c.39C>G (p.Val13=) c.1099C>G (n.1099C>G) | |
19 | g.41869119C>T | CA406030344 | RPS19 | c.274C>T (p.His92Tyr) c.261C>T (p.Val87=) c.39C>T (p.Val13=) c.1099C>T (n.1099C>T) | |
19 | g.41869120A>C | CA406030348 | RPS19 | c.275A>C (p.His92Pro) c.262A>C (p.Met88Leu) c.40A>C (p.Met14Leu) c.1100A>C (n.1100A>C) | |
19 | g.41869120A>G | CA406030350 | RPS19 | c.275A>G (p.His92Arg) c.262A>G (p.Met88Val) c.40A>G (p.Met14Val) c.1100A>G (n.1100A>G) | |
19 | g.41869120A>T | CA406030346 | RPS19 | c.275A>T (p.His92Leu) c.262A>T (p.Met88Leu) c.40A>T (p.Met14Leu) c.1100A>T (n.1100A>T) | |
19 | g.41869121T>A | CA406030352 | RPS19 | c.276T>A (p.His92Gln) c.263T>A (p.Met88Lys) c.41T>A (p.Met14Lys) c.1101T>A (n.1101T>A) | |
19 | g.41869121T>C | CA406030351 | RPS19 | c.276T>C (p.His92=) c.263T>C (p.Met88Thr) c.41T>C (p.Met14Thr) c.1101T>C (n.1101T>C) | |
19 | g.41869121T>G | CA406030355 | RPS19 | c.276T>G (p.His92Gln) c.263T>G (p.Met88Arg) c.41T>G (p.Met14Arg) c.1101T>G (n.1101T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869121T= | CA2336668885 | RPS19 | c.276T= (p.His92=) c.263T= (p.Met88=) c.41T= (p.Met14=) c.1101T= (n.1101T=) | |
19 | g.41869122G>A | CA406030358 | RPS19 | c.277G>A (p.Ala93Thr) c.264G>A (p.Met88Ile) c.42G>A (p.Met14Ile) c.1102G>A (n.1102G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869122G>C | CA9465359 | RPS19 | c.277G>C (p.Ala93Pro) c.264G>C (p.Met88Ile) c.42G>C (p.Met14Ile) c.1102G>C (n.1102G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869122G= | CA2336668886 | RPS19 | c.277G= (p.Ala93=) c.264G= (p.Met88=) c.42G= (p.Met14=) c.1102G= (n.1102G=) | |
19 | g.41869122G>T | CA406030360 | RPS19 | c.277G>T (p.Ala93Ser) c.264G>T (p.Met88Ile) c.42G>T (p.Met14Ile) c.1102G>T (n.1102G>T) | |
19 | g.41869125_41869129del | CA1139770402 | RPS19 | c.280_284del (p.Gln94ThrfsTer?) c.267_271del (p.Ser90LeufsTer?) c.45_49del (p.Ser16LeufsTer?) c.1105_1109del (n.1105_1109del) c.280_284del (p.Gln94ThrfsTer20) | |
19 | g.41869123C>A | CA406030363 | RPS19 | c.278C>A (p.Ala93Asp) c.265C>A (p.Pro89Thr) c.43C>A (p.Pro15Thr) c.1103C>A (n.1103C>A) | |
19 | g.41869123C>G | CA406030367 | RPS19 | c.278C>G (p.Ala93Gly) c.265C>G (p.Pro89Ala) c.43C>G (p.Pro15Ala) c.1103C>G (n.1103C>G) | gnomAD v4 |
19 | g.41869123C>T | CA406030365 | RPS19 | c.278C>T (p.Ala93Val) c.265C>T (p.Pro89Ser) c.43C>T (p.Pro15Ser) c.1103C>T (n.1103C>T) | |
19 | g.41869124C>A | CA406030370 | RPS19 | c.279C>A (p.Ala93=) c.266C>A (p.Pro89His) c.44C>A (p.Pro15His) c.1104C>A (n.1104C>A) | |
19 | g.41869124C>G | CA406030372 | RPS19 | c.279C>G (p.Ala93=) c.266C>G (p.Pro89Arg) c.44C>G (p.Pro15Arg) c.1104C>G (n.1104C>G) | ClinVar |
19 | g.41869124C>T | CA406030374 | RPS19 | c.279C>T (p.Ala93=) c.266C>T (p.Pro89Leu) c.44C>T (p.Pro15Leu) c.1104C>T (n.1104C>T) | |
19 | g.41869125C>A | CA406030377 | RPS19 | c.280C>A (p.Gln94Lys) c.267C>A (p.Pro89=) c.45C>A (p.Pro15=) c.1105C>A (n.1105C>A) | |
19 | g.41869125C>G | CA406030379 | RPS19 | c.280C>G (p.Gln94Glu) c.267C>G (p.Pro89=) c.45C>G (p.Pro15=) c.1105C>G (n.1105C>G) | |
19 | g.41869125C>T | CA406030381 | RPS19 | c.280C>T (p.Gln94Ter) c.267C>T (p.Pro89=) c.45C>T (p.Pro15=) c.1105C>T (n.1105C>T) | |
19 | g.41869126A>C | CA406030384 | RPS19 | c.281A>C (p.Gln94Pro) c.268A>C (p.Ser90Arg) c.46A>C (p.Ser16Arg) c.1106A>C (n.1106A>C) | |
19 | g.41869126A>G | CA406030385 | RPS19 | c.281A>G (p.Gln94Arg) c.268A>G (p.Ser90Gly) c.46A>G (p.Ser16Gly) c.1106A>G (n.1106A>G) | |
19 | g.41869126A>T | CA406030387 | RPS19 | c.281A>T (p.Gln94Leu) c.268A>T (p.Ser90Cys) c.46A>T (p.Ser16Cys) c.1106A>T (n.1106A>T) | |
19 | g.41869127G>A | CA406030390 | RPS19 | c.282G>A (p.Gln94=) c.269G>A (p.Ser90Asn) c.47G>A (p.Ser16Asn) c.1107G>A (n.1107G>A) | |
19 | g.41869127G>C | CA406030393 | RPS19 | c.282G>C (p.Gln94His) c.269G>C (p.Ser90Thr) c.47G>C (p.Ser16Thr) c.1107G>C (n.1107G>C) | |
19 | g.41869127G>T | CA406030394 | RPS19 | c.282G>T (p.Gln94His) c.269G>T (p.Ser90Ile) c.47G>T (p.Ser16Ile) c.1107G>T (n.1107G>T) | |
19 | g.41869128C>A | CA406030398 | RPS19 | c.283C>A (p.Pro95Thr) c.270C>A (p.Ser90Arg) c.48C>A (p.Ser16Arg) c.1108C>A (n.1108C>A) | |
19 | g.41869128C>G | CA406030402 | RPS19 | c.283C>G (p.Pro95Ala) c.270C>G (p.Ser90Arg) c.48C>G (p.Ser16Arg) c.1108C>G (n.1108C>G) | |
19 | g.41869128C>T | CA406030399 | RPS19 | c.283C>T (p.Pro95Ser) c.270C>T (p.Ser90=) c.48C>T (p.Ser16=) c.1108C>T (n.1108C>T) | |
19 | g.41869129C>A | CA406030404 | RPS19 | c.284C>A (p.Pro95Gln) c.271C>A (p.His91Asn) c.49C>A (p.His17Asn) c.1109C>A (n.1109C>A) | |
19 | g.41869129C= | CA2336668887 | RPS19 | c.284C= (p.Pro95=) c.271C= (p.His91=) c.49C= (p.His17=) c.1109C= (n.1109C=) | |
19 | g.41869129C>G | CA406030407 | RPS19 | c.284C>G (p.Pro95Arg) c.271C>G (p.His91Asp) c.49C>G (p.His17Asp) c.1109C>G (n.1109C>G) | |
19 | g.41869129C>T | CA406030409 | RPS19 | c.284C>T (p.Pro95Leu) c.271C>T (p.His91Tyr) c.49C>T (p.His17Tyr) c.1109C>T (n.1109C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869130A>C | CA406030411 | RPS19 | c.285A>C (p.Pro95=) c.272A>C (p.His91Pro) c.50A>C (p.His17Pro) c.1110A>C (n.1110A>C) | |
19 | g.41869130A>G | CA406030414 | RPS19 | c.285A>G (p.Pro95=) c.272A>G (p.His91Arg) c.50A>G (p.His17Arg) c.1110A>G (n.1110A>G) | gnomAD v4 |
19 | g.41869130A>T | CA406030415 | RPS19 | c.285A>T (p.Pro95=) c.272A>T (p.His91Leu) c.50A>T (p.His17Leu) c.1110A>T (n.1110A>T) | |
19 | g.41869131C>A | CA406030418 | RPS19 | c.286C>A (p.Leu96Ile) c.273C>A (p.His91Gln) c.51C>A (p.His17Gln) c.1111C>A (n.1111C>A) | |
19 | g.41869131C= | CA2336668888 | RPS19 | c.286C= (p.Leu96=) c.273C= (p.His91=) c.51C= (p.His17=) c.1111C= (n.1111C=) | |
19 | g.41869131C>G | CA406030420 | RPS19 | c.286C>G (p.Leu96Val) c.273C>G (p.His91Gln) c.51C>G (p.His17Gln) c.1111C>G (n.1111C>G) | |
19 | g.41869131C>T | CA308568184 | RPS19 | c.286C>T (p.Leu96Phe) c.273C>T (p.His91=) c.51C>T (p.His17=) c.1111C>T (n.1111C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869132_41869162del | CA2695228823 | RPS19 | c.274_304del (p.Phe92GlyfsTer9) c.52_82del (p.Phe18GlyfsTer9) c.1112_1142del (n.1112_1142del) c.287_317del (p.Leu96ArgfsTer?) | |
19 | g.41869132T>A | CA406030428 | RPS19 | c.287T>A (p.Leu96His) c.274T>A (p.Phe92Ile) c.52T>A (p.Phe18Ile) c.1112T>A (n.1112T>A) | |
19 | g.41869132T>C | CA406030426 | RPS19 | c.287T>C (p.Leu96Pro) c.274T>C (p.Phe92Leu) c.52T>C (p.Phe18Leu) c.1112T>C (n.1112T>C) | |
19 | g.41869132T>G | CA406030424 | RPS19 | c.287T>G (p.Leu96Arg) c.274T>G (p.Phe92Val) c.52T>G (p.Phe18Val) c.1112T>G (n.1112T>G) | |
19 | g.41869133del | CA2695228824 | RPS19 | c.288del (p.Gln97SerfsTer?) c.275del (p.Phe92SerfsTer19) c.53del (p.Phe18SerfsTer19) c.1113del (n.1113del) | |
19 | g.41869133T>A | CA406030430 | RPS19 | c.288T>A (p.Leu96=) c.275T>A (p.Phe92Tyr) c.53T>A (p.Phe18Tyr) c.1113T>A (n.1113T>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869133T>C | CA406030432 | RPS19 | c.288T>C (p.Leu96=) c.275T>C (p.Phe92Ser) c.53T>C (p.Phe18Ser) c.1113T>C (n.1113T>C) | |
19 | g.41869133T>G | CA406030434 | RPS19 | c.288T>G (p.Leu96=) c.275T>G (p.Phe92Cys) c.53T>G (p.Phe18Cys) c.1113T>G (n.1113T>G) | |
19 | g.41869133T= | CA2336668889 | RPS19 | c.288T= (p.Leu96=) c.275T= (p.Phe92=) c.53T= (p.Phe18=) c.1113T= (n.1113T=) | |
19 | g.41869134C>A | CA406030437 | RPS19 | c.289C>A (p.Gln97Lys) c.276C>A (p.Phe92Leu) c.54C>A (p.Phe18Leu) c.1114C>A (n.1114C>A) | |
19 | g.41869134C= | CA2336668890 | RPS19 | c.289C= (p.Gln97=) c.276C= (p.Phe92=) c.54C= (p.Phe18=) c.1114C= (n.1114C=) | |
19 | g.41869134C>G | CA406030439 | RPS19 | c.289C>G (p.Gln97Glu) c.276C>G (p.Phe92Leu) c.54C>G (p.Phe18Leu) c.1114C>G (n.1114C>G) | gnomAD v4 |
19 | g.41869134C>T | CA9465360 | RPS19 | c.289C>T (p.Gln97Ter) c.276C>T (p.Phe92=) c.54C>T (p.Phe18=) c.1114C>T (n.1114C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869135A>C | CA406030442 | RPS19 | c.290A>C (p.Gln97Pro) c.277A>C (p.Ser93Arg) c.55A>C (p.Ser19Arg) c.1115A>C (n.1115A>C) | |
19 | g.41869135A>G | CA406030445 | RPS19 | c.290A>G (p.Gln97Arg) c.277A>G (p.Ser93Gly) c.55A>G (p.Ser19Gly) c.1115A>G (n.1115A>G) | |
19 | g.41869135A>T | CA406030446 | RPS19 | c.290A>T (p.Gln97Leu) c.277A>T (p.Ser93Cys) c.55A>T (p.Ser19Cys) c.1115A>T (n.1115A>T) | |
19 | g.41869136G>A | CA406030447 | RPS19 | c.291G>A (p.Gln97=) c.278G>A (p.Ser93Asn) c.56G>A (p.Ser19Asn) c.1116G>A (n.1116G>A) | |
19 | g.41869136G>C | CA406030448 | RPS19 | c.291G>C (p.Gln97His) c.278G>C (p.Ser93Thr) c.56G>C (p.Ser19Thr) c.1116G>C (n.1116G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869136G= | CA2336668891 | RPS19 | c.291G= (p.Gln97=) c.278G= (p.Ser93=) c.56G= (p.Ser19=) c.1116G= (n.1116G=) | |
19 | g.41869136G>T | CA406030449 | RPS19 | c.291G>T (p.Gln97His) c.278G>T (p.Ser93Ile) c.56G>T (p.Ser19Ile) c.1116G>T (n.1116G>T) | |
19 | g.41869137C>A | CA406030451 | RPS19 | c.292C>A (p.Pro98Thr) c.279C>A (p.Ser93Arg) c.57C>A (p.Ser19Arg) c.1117C>A (n.1117C>A) | |
19 | g.41869137C= | CA2336668892 | RPS19 | c.292C= (p.Pro98=) c.279C= (p.Ser93=) c.57C= (p.Ser19=) c.1117C= (n.1117C=) | |
19 | g.41869137C>G | CA406030450 | RPS19 | c.292C>G (p.Pro98Ala) c.279C>G (p.Ser93Arg) c.57C>G (p.Ser19Arg) c.1117C>G (n.1117C>G) | |
19 | g.41869137C>T | CA9465361 | RPS19 | c.292C>T (p.Pro98Ser) c.279C>T (p.Ser93=) c.57C>T (p.Ser19=) c.1117C>T (n.1117C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869138C>A | CA406030452 | RPS19 | c.293C>A (p.Pro98Gln) c.280C>A (p.Arg94=) c.58C>A (p.Arg20=) c.1118C>A (n.1118C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869138C= | CA2336668893 | RPS19 | c.293C= (p.Pro98=) c.280C= (p.Arg94=) c.58C= (p.Arg20=) c.1118C= (n.1118C=) | |
19 | g.41869138C>G | CA406030453 | RPS19 | c.293C>G (p.Pro98Arg) c.280C>G (p.Arg94Gly) c.58C>G (p.Arg20Gly) c.1118C>G (n.1118C>G) | gnomAD v4 |
19 | g.41869138C>T | CA130761 | RPS19 | c.293C>T (p.Pro98Leu) c.280C>T (p.Arg94Ter) c.58C>T (p.Arg20Ter) c.1118C>T (n.1118C>T) | ClinVar dbSNP gnomAD v2 |
19 | g.41869139G>A | CA9465362 | RPS19 | c.294G>A (p.Pro98=) c.281G>A (p.Arg94Gln) c.59G>A (p.Arg20Gln) c.1119G>A (n.1119G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869139G>C | CA406030454 | RPS19 | c.294G>C (p.Pro98=) c.281G>C (p.Arg94Pro) c.59G>C (p.Arg20Pro) c.1119G>C (n.1119G>C) | |
19 | g.41869139G= | CA2336668894 | RPS19 | c.294G= (p.Pro98=) c.281G= (p.Arg94=) c.59G= (p.Arg20=) c.1119G= (n.1119G=) | |
19 | g.41869139G>T | CA406030455 | RPS19 | c.294G>T (p.Pro98=) c.281G>T (p.Arg94Leu) c.59G>T (p.Arg20Leu) c.1119G>T (n.1119G>T) | |
19 | g.41869140A>C | CA507576362 | RPS19 | c.295A>C (p.Arg99=) c.282A>C (p.Arg94=) c.60A>C (p.Arg20=) c.1120A>C (n.1120A>C) | |
19 | g.41869140A>G | CA406030456 | RPS19 | c.295A>G (p.Arg99Gly) c.282A>G (p.Arg94=) c.60A>G (p.Arg20=) c.1120A>G (n.1120A>G) | |
19 | g.41869140A>T | CA406030457 | RPS19 | c.295A>T (p.Arg99Trp) c.282A>T (p.Arg94=) c.60A>T (p.Arg20=) c.1120A>T (n.1120A>T) | |
19 | g.41869141G>A | CA406030458 | RPS19 | c.296G>A (p.Arg99Lys) c.283G>A (p.Gly95Ser) c.61G>A (p.Gly21Ser) c.1121G>A (n.1121G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869141G>C | CA406030459 | RPS19 | c.296G>C (p.Arg99Thr) c.283G>C (p.Gly95Arg) c.61G>C (p.Gly21Arg) c.1121G>C (n.1121G>C) | |
19 | g.41869141G= | CA2336668895 | RPS19 | c.296G= (p.Arg99=) c.283G= (p.Gly95=) c.61G= (p.Gly21=) c.1121G= (n.1121G=) | |
19 | g.41869141G>T | CA406030460 | RPS19 | c.296G>T (p.Arg99Met) c.283G>T (p.Gly95Cys) c.61G>T (p.Gly21Cys) c.1121G>T (n.1121G>T) | |
19 | g.41869142del | CA2695228825 | RPS19 | c.297del (p.Arg99SerfsTer?) c.284del (p.Gly95AlafsTer16) c.62del (p.Gly21AlafsTer16) c.1122del (n.1122del) | |
19 | g.41869142G>A | CA406030462 | RPS19 | c.297G>A (p.Arg99=) c.284G>A (p.Gly95Asp) c.62G>A (p.Gly21Asp) c.1122G>A (n.1122G>A) | |
19 | g.41869142G>C | CA406030463 | RPS19 | c.297G>C (p.Arg99Ser) c.284G>C (p.Gly95Ala) c.62G>C (p.Gly21Ala) c.1122G>C (n.1122G>C) | dbSNP |
19 | g.41869142G= | CA2336668896 | RPS19 | c.297G= (p.Arg99=) c.284G= (p.Gly95=) c.62G= (p.Gly21=) c.1122G= (n.1122G=) | |
19 | g.41869142G>T | CA406030461 | RPS19 | c.297G>T (p.Arg99Ser) c.284G>T (p.Gly95Val) c.62G>T (p.Gly21Val) c.1122G>T (n.1122G>T) | |
19 | g.41869143C>A | CA406030466 | RPS19 | c.298C>A (p.Leu100Ile) c.285C>A (p.Gly95=) c.63C>A (p.Gly21=) c.1123C>A (n.1123C>A) | |
19 | g.41869143C>G | CA406030464 | RPS19 | c.298C>G (p.Leu100Val) c.285C>G (p.Gly95=) c.63C>G (p.Gly21=) c.1123C>G (n.1123C>G) | |
19 | g.41869143C>T | CA406030465 | RPS19 | c.298C>T (p.Leu100Phe) c.285C>T (p.Gly95=) c.63C>T (p.Gly21=) c.1123C>T (n.1123C>T) | ClinVar dbSNP |
19 | g.41869144T>A | CA406030467 | RPS19 | c.299T>A (p.Leu100His) c.286T>A (p.Ser96Thr) c.64T>A (p.Ser22Thr) c.1124T>A (n.1124T>A) | |
19 | g.41869144T>C | CA406030468 | RPS19 | c.299T>C (p.Leu100Pro) c.286T>C (p.Ser96Pro) c.64T>C (p.Ser22Pro) c.1124T>C (n.1124T>C) | |
19 | g.41869144T>G | CA406030469 | RPS19 | c.299T>G (p.Leu100Arg) c.286T>G (p.Ser96Ala) c.64T>G (p.Ser22Ala) c.1124T>G (n.1124T>G) | |
19 | g.41869145C>A | CA406030470 | RPS19 | c.300C>A (p.Leu100=) c.287C>A (p.Ser96Tyr) c.65C>A (p.Ser22Tyr) c.1125C>A (n.1125C>A) | |
19 | g.41869145C>G | CA406030471 | RPS19 | c.300C>G (p.Leu100=) c.287C>G (p.Ser96Cys) c.65C>G (p.Ser22Cys) c.1125C>G (n.1125C>G) | |
19 | g.41869145C>T | CA406030472 | RPS19 | c.300C>T (p.Leu100=) c.287C>T (p.Ser96Phe) c.65C>T (p.Ser22Phe) c.1125C>T (n.1125C>T) | gnomAD v4 |
19 | g.41869146dup | CA2580097298 | RPS19 | c.288dup (p.Lys97GlnfsTer?) c.66dup (p.Lys23GlnfsTer?) c.1126dup (n.1126dup) c.301dup (p.Gln101ProfsTer15) | ClinVar |
19 | g.41869146C>A | CA507576363 | RPS19 | c.301C>A c.288C>A (p.Ser96=) c.66C>A (p.Ser22=) c.1126C>A (n.1126C>A) c.301C>A (p.Gln101Lys) | |
19 | g.41869146C= | CA2336668897 | RPS19 | c.301C= c.288C= (p.Ser96=) c.66C= (p.Ser22=) c.1126C= (n.1126C=) c.301C= (p.Gln101=) | |
19 | g.41869146C>G | CA9465363 | RPS19 | c.301C>G c.288C>G (p.Ser96=) c.66C>G (p.Ser22=) c.1126C>G (n.1126C>G) c.301C>G (p.Gln101Glu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.41869146C>T | CA507576364 | RPS19 | c.301C>T c.288C>T (p.Ser96=) c.66C>T (p.Ser22=) c.1126C>T (n.1126C>T) c.301C>T (p.Gln101Ter) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869147A>C | CA406030473 | RPS19 | c.289A>C (p.Lys97Gln) c.67A>C (p.Lys23Gln) c.1127A>C (n.1127A>C) c.302A>C (p.Gln101Pro) | |
19 | g.41869147A>G | CA406030474 | RPS19 | c.289A>G (p.Lys97Glu) c.67A>G (p.Lys23Glu) c.1127A>G (n.1127A>G) c.302A>G (p.Gln101Arg) | |
19 | g.41869147A>T | CA406030475 | RPS19 | c.289A>T (p.Lys97Ter) c.67A>T (p.Lys23Ter) c.1127A>T (n.1127A>T) c.302A>T (p.Gln101Leu) | |
19 | g.41869148A>C | CA406030477 | RPS19 | c.290A>C (p.Lys97Thr) c.68A>C (p.Lys23Thr) c.1128A>C (n.1128A>C) c.303A>C (p.Gln101His) | |
19 | g.41869148A>G | CA406030478 | RPS19 | c.290A>G (p.Lys97Arg) c.68A>G (p.Lys23Arg) c.1128A>G (n.1128A>G) c.303A>G (p.Gln101=) | |
19 | g.41869148A>T | CA406030476 | RPS19 | c.290A>T (p.Lys97Met) c.68A>T (p.Lys23Met) c.1128A>T (n.1128A>T) c.303A>T (p.Gln101His) | |
19 | g.41869149_41869150insGCAG | CA2695228826 | RPS19 | c.291_292insGCAG (p.Ser98AlafsTer?) c.69_70insGCAG (p.Ser24AlafsTer?) c.1129_1130insGCAG (n.1129_1130insGCAG) c.304_305insGCAG (p.Glu102GlyfsTer15) | |
19 | g.41869149G>A | CA507576365 | RPS19 | c.291G>A (p.Lys97=) c.69G>A (p.Lys23=) c.1129G>A (n.1129G>A) c.304G>A (p.Glu102Lys) | |
19 | g.41869149G>C | CA406030479 | RPS19 | c.291G>C (p.Lys97Asn) c.69G>C (p.Lys23Asn) c.1129G>C (n.1129G>C) c.304G>C (p.Glu102Gln) | |
19 | g.41869149G>T | CA406030480 | RPS19 | c.291G>T (p.Lys97Asn) c.69G>T (p.Lys23Asn) c.1129G>T (n.1129G>T) c.304G>T (p.Glu102Ter) | |
19 | g.41869150A= | CA2336668898 | RPS19 | c.292A= (p.Ser98=) c.70A= (p.Ser24=) c.1130A= (n.1130A=) c.305A= (p.Glu102=) | |
19 | g.41869150A>C | CA406030481 | RPS19 | c.292A>C (p.Ser98Arg) c.70A>C (p.Ser24Arg) c.1130A>C (n.1130A>C) c.305A>C (p.Glu102Ala) | |
19 | g.41869150A>G | CA406030482 | RPS19 | c.292A>G (p.Ser98Gly) c.70A>G (p.Ser24Gly) c.1130A>G (n.1130A>G) c.305A>G (p.Glu102Gly) | |
19 | g.41869150A>T | CA406030483 | RPS19 | c.292A>T (p.Ser98Cys) c.70A>T (p.Ser24Cys) c.1130A>T (n.1130A>T) c.305A>T (p.Glu102Val) | |
19 | g.41869151G>A | CA406030486 | RPS19 | c.293G>A (p.Ser98Asn) c.71G>A (p.Ser24Asn) c.1131G>A (n.1131G>A) c.306G>A (p.Glu102=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869151G>C | CA406030484 | RPS19 | c.293G>C (p.Ser98Thr) c.71G>C (p.Ser24Thr) c.1131G>C (n.1131G>C) c.306G>C (p.Glu102Asp) | |
19 | g.41869151G= | CA2336668899 | RPS19 | c.293G= (p.Ser98=) c.71G= (p.Ser24=) c.1131G= (n.1131G=) c.306G= (p.Glu102=) | |
19 | g.41869151G>T | CA406030485 | RPS19 | c.293G>T (p.Ser98Ile) c.71G>T (p.Ser24Ile) c.1131G>T (n.1131G>T) c.306G>T (p.Glu102Asp) | |
19 | g.41869154_41869155dup | CA658656788 | RPS19 | c.296_297dup (p.Ala100TrpfsTer12) c.74_75dup (p.Ala26TrpfsTer12) c.1134_1135dup (n.1134_1135dup) c.309_310dup (p.Gly104ValfsTer?) | ClinVar dbSNP |
19 | g.41869154_41869155del | CA2580614906 | RPS19 | c.296_297del (p.Val99GlyfsTer?) c.74_75del (p.Val25GlyfsTer?) c.1134_1135del (n.1134_1135del) c.309_310del (p.Cys103TrpfsTer12) | ClinVar dbSNP |
19 | g.41869152T>A | CA308568218 | RPS19 | c.294T>A (p.Ser98Arg) c.72T>A (p.Ser24Arg) c.1132T>A (n.1132T>A) c.307T>A (p.Cys103Ser) | dbSNP |
19 | g.41869152T>C | CA507576366 | RPS19 | c.294T>C (p.Ser98=) c.72T>C (p.Ser24=) c.1132T>C (n.1132T>C) c.307T>C (p.Cys103Arg) | dbSNP |
19 | g.41869152T>G | CA406030487 | RPS19 | c.294T>G (p.Ser98Arg) c.72T>G (p.Ser24Arg) c.1132T>G (n.1132T>G) c.307T>G (p.Cys103Gly) | |
19 | g.41869152T= | CA2336668900 | RPS19 | c.294T= (p.Ser98=) c.72T= (p.Ser24=) c.1132T= (n.1132T=) c.307T= (p.Cys103=) | |
19 | g.41869152_41869154delinsTGT | CA2336668901 | RPS19 | c.294_296delinsTGT (p.Ser98=) c.72_74delinsTGT (p.Ser24=) c.1132_1134delinsTGT (n.1132_1134delinsTGT) c.307_309delinsTGT (p.Cys103=) | |
19 | g.41869153G>A | CA406030488 | RPS19 | c.295G>A (p.Val99Met) c.73G>A (p.Val25Met) c.1133G>A (n.1133G>A) c.308G>A (p.Cys103Tyr) | |
19 | g.41869153G>C | CA406030489 | RPS19 | c.295G>C (p.Val99Leu) c.73G>C (p.Val25Leu) c.1133G>C (n.1133G>C) c.308G>C (p.Cys103Ser) | |
19 | g.41869153G>T | CA406030490 | RPS19 | c.295G>T (p.Val99Leu) c.73G>T (p.Val25Leu) c.1133G>T (n.1133G>T) c.308G>T (p.Cys103Phe) | |
19 | g.41869153_41869154delinsCAGCCGA | CA1139666470 | RPS19 | c.295_296delinsCAGCCGA (p.Val99GlnfsTer14) c.73_74delinsCAGCCGA (p.Val25GlnfsTer14) c.1133_1134delinsCAGCCGA (n.1133_1134delinsCAGCCGA) c.308_309delinsCAGCCGA (p.Cys103SerfsTer?) | ClinVar dbSNP |
19 | g.41869154T>A | CA406030493 | RPS19 | c.296T>A (p.Val99Glu) c.74T>A (p.Val25Glu) c.1134T>A (n.1134T>A) c.309T>A (p.Cys103Ter) | |
19 | g.41869154T>C | CA406030492 | RPS19 | c.296T>C (p.Val99Ala) c.74T>C (p.Val25Ala) c.1134T>C (n.1134T>C) c.309T>C (p.Cys103=) | |
19 | g.41869154T>G | CA406030491 | RPS19 | c.296T>G (p.Val99Gly) c.74T>G (p.Val25Gly) c.1134T>G (n.1134T>G) c.309T>G (p.Cys103Trp) | |
19 | g.41869155G>A | CA507576369 | RPS19 | c.297G>A (p.Val99=) c.75G>A (p.Val25=) c.1135G>A (n.1135G>A) c.310G>A (p.Gly104Ser) | |
19 | g.41869155G>C | CA507576368 | RPS19 | c.297G>C (p.Val99=) c.75G>C (p.Val25=) c.1135G>C (n.1135G>C) c.310G>C (p.Gly104Arg) | |
19 | g.41869155G>T | CA507576367 | RPS19 | c.297G>T (p.Val99=) c.75G>T (p.Val25=) c.1135G>T (n.1135G>T) c.310G>T (p.Gly104Cys) | |
19 | g.41869156G>A | CA406030494 | RPS19 | c.298G>A (p.Ala100Thr) c.76G>A (p.Ala26Thr) c.1136G>A (n.1136G>A) c.311G>A (p.Gly104Asp) | |
19 | g.41869156G>C | CA406030495 | RPS19 | c.298G>C (p.Ala100Pro) c.76G>C (p.Ala26Pro) c.1136G>C (n.1136G>C) c.311G>C (p.Gly104Ala) | |
19 | g.41869156G>T | CA406030496 | RPS19 | c.298G>T (p.Ala100Ser) c.76G>T (p.Ala26Ser) c.1136G>T (n.1136G>T) c.311G>T (p.Gly104Val) | |
19 | g.41869160_41869177del | CA2695228827 | RPS19 | c.302_319del (p.Arg101_Ala106del) c.80_97del (p.Arg27_Ala32del) c.1140_1157del (n.1140_1157del) c.315_332del (p.Pro106_Pro111del) | |
19 | g.41869157C>A | CA406030497 | RPS19 | c.299C>A (p.Ala100Asp) c.77C>A (p.Ala26Asp) c.1137C>A (n.1137C>A) c.312C>A (p.Gly104=) | |
19 | g.41869157C>G | CA406030498 | RPS19 | c.299C>G (p.Ala100Gly) c.77C>G (p.Ala26Gly) c.1137C>G (n.1137C>G) c.312C>G (p.Gly104=) | |
19 | g.41869157C>T | CA406030499 | RPS19 | c.299C>T (p.Ala100Val) c.77C>T (p.Ala26Val) c.1137C>T (n.1137C>T) c.312C>T (p.Gly104=) | |
19 | g.41869158C>A | CA507576370 | RPS19 | c.300C>A (p.Ala100=) c.78C>A (p.Ala26=) c.1138C>A (n.1138C>A) c.313C>A (p.Pro105Thr) | |
19 | g.41869158C>G | CA507576371 | RPS19 | c.300C>G (p.Ala100=) c.78C>G (p.Ala26=) c.1138C>G (n.1138C>G) c.313C>G (p.Pro105Ala) | |
19 | g.41869158C>T | CA507576372 | RPS19 | c.300C>T (p.Ala100=) c.78C>T (p.Ala26=) c.1138C>T (n.1138C>T) c.313C>T (p.Pro105Ser) | gnomAD v4 |
19 | g.41869159C>A | CA406030500 | RPS19 | c.301C>A (p.Arg101Ser) c.79C>A (p.Arg27Ser) c.1139C>A (n.1139C>A) c.314C>A (p.Pro105Gln) | |
19 | g.41869159C= | CA2336668902 | RPS19 | c.301C= (p.Arg101=) c.79C= (p.Arg27=) c.1139C= (n.1139C=) c.314C= (p.Pro105=) | |
19 | g.41869159C>G | CA406030501 | RPS19 | c.301C>G (p.Arg101Gly) c.79C>G (p.Arg27Gly) c.1139C>G (n.1139C>G) c.314C>G (p.Pro105Arg) | |
19 | g.41869159C>T | CA9465364 | RPS19 | c.301C>T (p.Arg101Cys) c.79C>T (p.Arg27Cys) c.1139C>T (n.1139C>T) c.314C>T (p.Pro105Leu) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41869160G>A | CA406030502 | RPS19 | c.302G>A (p.Arg101His) c.80G>A (p.Arg27His) c.1140G>A (n.1140G>A) c.315G>A (p.Pro105=) | ClinVar dbSNP |
19 | g.41869160G>C | CA406030503 | RPS19 | c.302G>C (p.Arg101Pro) c.80G>C (p.Arg27Pro) c.1140G>C (n.1140G>C) c.315G>C (p.Pro105=) | ClinVar dbSNP |
19 | g.41869160G>T | CA406030504 | RPS19 | c.302G>T (p.Arg101Leu) c.80G>T (p.Arg27Leu) c.1140G>T (n.1140G>T) c.315G>T (p.Pro105=) | |
19 | g.41869161C>A | CA507576373 | RPS19 | c.303C>A (p.Arg101=) c.81C>A (p.Arg27=) c.1141C>A (n.1141C>A) c.316C>A (p.Pro106Thr) | |
19 | g.41869161C= | CA2336668903 | RPS19 | c.303C= (p.Arg101=) c.81C= (p.Arg27=) c.1141C= (n.1141C=) c.316C= (p.Pro106=) | |
19 | g.41869161C>G | CA507576374 | RPS19 | c.303C>G (p.Arg101=) c.81C>G (p.Arg27=) c.1141C>G (n.1141C>G) c.316C>G (p.Pro106Ala) | |
19 | g.41869161C>T | CA9465365 | RPS19 | c.303C>T (p.Arg101=) c.81C>T (p.Arg27=) c.1141C>T (n.1141C>T) c.316C>T (p.Pro106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869162del | CA2695228828 | RPS19 | c.304del (p.Arg102GlyfsTer9) c.82del (p.Arg28GlyfsTer9) c.1142del (n.1142del) c.317del (p.Pro106ArgfsTer?) | |
19 | g.41869162C>A | CA507576375 | RPS19 | c.304C>A (p.Arg102=) c.82C>A (p.Arg28=) c.1142C>A (n.1142C>A) c.317C>A (p.Pro106Gln) | |
19 | g.41869162C>G | CA406030506 | RPS19 | c.304C>G (p.Arg102Gly) c.82C>G (p.Arg28Gly) c.1142C>G (n.1142C>G) c.317C>G (p.Pro106Arg) | |
19 | g.41869162C>T | CA406030505 | RPS19 | c.304C>T (p.Arg102Trp) c.82C>T (p.Arg28Trp) c.1142C>T (n.1142C>T) c.317C>T (p.Pro106Leu) | gnomAD v4 |
19 | g.41869162_41869163delinsCG | CA2336668904 | RPS19 | c.304_305delinsCG (p.Arg102=) c.82_83delinsCG (p.Arg28=) c.1142_1143delinsCG (n.1142_1143delinsCG) c.317_318delinsCG (p.Pro106=) | |
19 | g.41869163G>A | CA9465366 | RPS19 | c.305G>A (p.Arg102Gln) c.83G>A (p.Arg28Gln) c.1143G>A (n.1143G>A) c.318G>A (p.Pro106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869163G>C | CA406030507 | RPS19 | c.305G>C (p.Arg102Pro) c.83G>C (p.Arg28Pro) c.1143G>C (n.1143G>C) c.318G>C (p.Pro106=) | |
19 | g.41869163G= | CA2336668905 | RPS19 | c.305G= (p.Arg102=) c.83G= (p.Arg28=) c.1143G= (n.1143G=) c.318G= (p.Pro106=) | |
19 | g.41869163G>T | CA406030508 | RPS19 | c.305G>T (p.Arg102Leu) c.83G>T (p.Arg28Leu) c.1143G>T (n.1143G>T) c.318G>T (p.Pro106=) | |
19 | g.41869165del | CA130768 | RPS19 | c.307del (p.Val103SerfsTer8) c.85del (p.Val29SerfsTer8) c.1145del (n.1145del) c.320del (p.Gly107ValfsTer?) | ClinVar dbSNP |
19 | g.41869164G>A | CA507576376 | RPS19 | c.306G>A (p.Arg102=) c.84G>A (p.Arg28=) c.1144G>A (n.1144G>A) c.319G>A (p.Gly107Ser) | |
19 | g.41869164G>C | CA507576377 | RPS19 | c.306G>C (p.Arg102=) c.84G>C (p.Arg28=) c.1144G>C (n.1144G>C) c.319G>C (p.Gly107Arg) | |
19 | g.41869164G>T | CA507576378 | RPS19 | c.306G>T (p.Arg102=) c.84G>T (p.Arg28=) c.1144G>T (n.1144G>T) c.319G>T (p.Gly107Cys) | |
19 | g.41869165G>A | CA406030510 | RPS19 | c.307G>A (p.Val103Ile) c.85G>A (p.Val29Ile) c.1145G>A (n.1145G>A) c.320G>A (p.Gly107Asp) | COSMIC |
19 | g.41869165G>C | CA406030511 | RPS19 | c.307G>C (p.Val103Leu) c.85G>C (p.Val29Leu) c.1145G>C (n.1145G>C) c.320G>C (p.Gly107Ala) | |
19 | g.41869165G>T | CA406030512 | RPS19 | c.307G>T (p.Val103Phe) c.85G>T (p.Val29Phe) c.1145G>T (n.1145G>T) c.320G>T (p.Gly107Val) | |
19 | g.41869166T>A | CA406030513 | RPS19 | c.308T>A (p.Val103Asp) c.86T>A (p.Val29Asp) c.1146T>A (n.1146T>A) c.321T>A (p.Gly107=) | ClinVar dbSNP |
19 | g.41869166T>C | CA406030514 | RPS19 | c.308T>C (p.Val103Ala) c.86T>C (p.Val29Ala) c.1146T>C (n.1146T>C) c.321T>C (p.Gly107=) | |
19 | g.41869166T>G | CA406030515 | RPS19 | c.308T>G (p.Val103Gly) c.86T>G (p.Val29Gly) c.1146T>G (n.1146T>G) c.321T>G (p.Gly107=) | dbSNP |
19 | g.41869166T= | CA2336668906 | RPS19 | c.308T= (p.Val103=) c.86T= (p.Val29=) c.1146T= (n.1146T=) c.321T= (p.Gly107=) | |
19 | g.41869167C>A | CA507576379 | RPS19 | c.309C>A (p.Val103=) c.87C>A (p.Val29=) c.1147C>A (n.1147C>A) c.322C>A (p.Pro108Thr) | |
19 | g.41869167C= | CA2336668907 | RPS19 | c.309C= (p.Val103=) c.87C= (p.Val29=) c.1147C= (n.1147C=) c.322C= (p.Pro108=) | |
19 | g.41869167C>G | CA507576380 | RPS19 | c.309C>G (p.Val103=) c.87C>G (p.Val29=) c.1147C>G (n.1147C>G) c.322C>G (p.Pro108Ala) | |
19 | g.41869167C>T | CA507576381 | RPS19 | c.309C>T (p.Val103=) c.87C>T (p.Val29=) c.1147C>T (n.1147C>T) c.322C>T (p.Pro108Ser) | dbSNP gnomAD v4 COSMIC |
19 | g.41869168C>A | CA406030516 | RPS19 | c.310C>A (p.Leu104Ile) c.88C>A (p.Leu30Ile) c.1148C>A (n.1148C>A) c.323C>A (p.Pro108His) | COSMIC |
19 | g.41869168C>G | CA406030517 | RPS19 | c.310C>G (p.Leu104Val) c.88C>G (p.Leu30Val) c.1148C>G (n.1148C>G) c.323C>G (p.Pro108Arg) | gnomAD v4 |
19 | g.41869168C>T | CA406030518 | RPS19 | c.310C>T (p.Leu104Phe) c.88C>T (p.Leu30Phe) c.1148C>T (n.1148C>T) c.323C>T (p.Pro108Leu) | |
19 | g.41869169T>A | CA406030521 | RPS19 | c.311T>A (p.Leu104His) c.89T>A (p.Leu30His) c.1149T>A (n.1149T>A) c.324T>A (p.Pro108=) | |
19 | g.41869169T>C | CA406030520 | RPS19 | c.311T>C (p.Leu104Pro) c.89T>C (p.Leu30Pro) c.1149T>C (n.1149T>C) c.324T>C (p.Pro108=) | |
19 | g.41869169T>G | CA406030519 | RPS19 | c.311T>G (p.Leu104Arg) c.89T>G (p.Leu30Arg) c.1149T>G (n.1149T>G) c.324T>G (p.Pro108=) | |
19 | g.41869170C>A | CA507576384 | RPS19 | c.312C>A (p.Leu104=) c.90C>A (p.Leu30=) c.1150C>A (n.1150C>A) c.325C>A (p.Pro109Thr) | |
19 | g.41869170C= | CA2336668908 | RPS19 | c.312C= (p.Leu104=) c.90C= (p.Leu30=) c.1150C= (n.1150C=) c.325C= (p.Pro109=) | |
19 | g.41869170C>G | CA507576382 | RPS19 | c.312C>G (p.Leu104=) c.90C>G (p.Leu30=) c.1150C>G (n.1150C>G) c.325C>G (p.Pro109Ala) | |
19 | g.41869170C>T | CA507576383 | RPS19 | c.312C>T (p.Leu104=) c.90C>T (p.Leu30=) c.1150C>T (n.1150C>T) c.325C>T (p.Pro109Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869171C>A | CA406030522 | RPS19 | c.313C>A (p.Gln105Lys) c.91C>A (p.Gln31Lys) c.1151C>A (n.1151C>A) c.326C>A (p.Pro109Gln) | gnomAD v4 |
19 | g.41869171C>G | CA406030524 | RPS19 | c.313C>G (p.Gln105Glu) c.91C>G (p.Gln31Glu) c.1151C>G (n.1151C>G) c.326C>G (p.Pro109Arg) | |
19 | g.41869171C>T | CA406030523 | RPS19 | c.313C>T (p.Gln105Ter) c.91C>T (p.Gln31Ter) c.1151C>T (n.1151C>T) c.326C>T (p.Pro109Leu) | |
19 | g.41869172A= | CA2336668909 | RPS19 | c.314A= (p.Gln105=) c.92A= (p.Gln31=) c.1152A= (n.1152A=) c.327A= (p.Pro109=) | |
19 | g.41869172A>C | CA406030525 | RPS19 | c.314A>C (p.Gln105Pro) c.92A>C (p.Gln31Pro) c.1152A>C (n.1152A>C) c.327A>C (p.Pro109=) | |
19 | g.41869172A>G | CA9465367 | RPS19 | c.314A>G (p.Gln105Arg) c.92A>G (p.Gln31Arg) c.1152A>G (n.1152A>G) c.327A>G (p.Pro109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869172A>T | CA406030526 | RPS19 | c.314A>T (p.Gln105Leu) c.92A>T (p.Gln31Leu) c.1152A>T (n.1152A>T) c.327A>T (p.Pro109=) | |
19 | g.41869173A>C | CA406030527 | RPS19 | c.315A>C (p.Gln105His) c.93A>C (p.Gln31His) c.1153A>C (n.1153A>C) c.328A>C (p.Ser110Arg) | |
19 | g.41869173A>G | CA507576385 | RPS19 | c.315A>G (p.Gln105=) c.93A>G (p.Gln31=) c.1153A>G (n.1153A>G) c.328A>G (p.Ser110Gly) | |
19 | g.41869173A>T | CA406030528 | RPS19 | c.315A>T (p.Gln105His) c.93A>T (p.Gln31His) c.1153A>T (n.1153A>T) c.328A>T (p.Ser110Cys) | |
19 | g.41869174del | CA2573332762 | RPS19 | c.316del (p.Ala106ProfsTer5) c.94del (p.Ala32ProfsTer5) c.1154del (n.1154del) c.329del (p.Ser110ThrfsTer?) | ClinVar |
19 | g.41869174G>A | CA9465368 | RPS19 | c.316G>A (p.Ala106Thr) c.94G>A (p.Ala32Thr) c.1154G>A (n.1154G>A) c.329G>A (p.Ser110Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869174G>C | CA406030529 | RPS19 | c.316G>C (p.Ala106Pro) c.94G>C (p.Ala32Pro) c.1154G>C (n.1154G>C) c.329G>C (p.Ser110Thr) | |
19 | g.41869174G= | CA2336668910 | RPS19 | c.316G= (p.Ala106=) c.94G= (p.Ala32=) c.1154G= (n.1154G=) c.329G= (p.Ser110=) | |
19 | g.41869174G>T | CA406030530 | RPS19 | c.316G>T (p.Ala106Ser) c.94G>T (p.Ala32Ser) c.1154G>T (n.1154G>T) c.329G>T (p.Ser110Ile) | |
19 | g.41869175C>A | CA406030531 | RPS19 | c.317C>A (p.Ala106Asp) c.95C>A (p.Ala32Asp) c.1155C>A (n.1155C>A) c.330C>A (p.Ser110Arg) | |
19 | g.41869175C= | CA2336668911 | RPS19 | c.317C= (p.Ala106=) c.95C= (p.Ala32=) c.1155C= (n.1155C=) c.330C= (p.Ser110=) | |
19 | g.41869175C>G | CA406030532 | RPS19 | c.317C>G (p.Ala106Gly) c.95C>G (p.Ala32Gly) c.1155C>G (n.1155C>G) c.330C>G (p.Ser110Arg) | |
19 | g.41869175C>T | CA406030533 | RPS19 | c.317C>T (p.Ala106Val) c.95C>T (p.Ala32Val) c.1155C>T (n.1155C>T) c.330C>T (p.Ser110=) | ClinVar dbSNP gnomAD v4 |
19 | g.41869176C>A | CA507576386 | RPS19 | c.318C>A (p.Ala106=) c.96C>A (p.Ala32=) c.1156C>A (n.1156C>A) c.331C>A (p.Pro111Thr) | |
19 | g.41869176C>G | CA507576388 | RPS19 | c.318C>G (p.Ala106=) c.96C>G (p.Ala32=) c.1156C>G (n.1156C>G) c.331C>G (p.Pro111Ala) | |
19 | g.41869176C>T | CA507576387 | RPS19 | c.318C>T (p.Ala106=) c.96C>T (p.Ala32=) c.1156C>T (n.1156C>T) c.331C>T (p.Pro111Ser) | gnomAD v4 |
19 | g.41869177C>A | CA406030534 | RPS19 | c.319C>A (p.Leu107Met) c.97C>A (p.Leu33Met) c.1157C>A (n.1157C>A) c.332C>A (p.Pro111His) | |
19 | g.41869177C= | CA2336668912 | RPS19 | c.319C= (p.Leu107=) c.97C= (p.Leu33=) c.1157C= (n.1157C=) c.332C= (p.Pro111=) | |
19 | g.41869177C>G | CA406030535 | RPS19 | c.319C>G (p.Leu107Val) c.97C>G (p.Leu33Val) c.1157C>G (n.1157C>G) c.332C>G (p.Pro111Arg) | |
19 | g.41869177C>T | CA507576389 | RPS19 | c.319C>T (p.Leu107=) c.97C>T (p.Leu33=) c.1157C>T (n.1157C>T) c.332C>T (p.Pro111Leu) | dbSNP |
19 | g.41869178T>A | CA406030538 | RPS19 | c.320T>A (p.Leu107Gln) c.98T>A (p.Leu33Gln) c.1158T>A (n.1158T>A) c.333T>A (p.Pro111=) | |
19 | g.41869178T>C | CA406030536 | RPS19 | c.320T>C (p.Leu107Pro) c.98T>C (p.Leu33Pro) c.1158T>C (n.1158T>C) c.333T>C (p.Pro111=) | ClinVar |
19 | g.41869178T>G | CA406030537 | RPS19 | c.320T>G (p.Leu107Arg) c.98T>G (p.Leu33Arg) c.1158T>G (n.1158T>G) c.333T>G (p.Pro111=) | |
19 | g.41869179G>A | CA507576390 | RPS19 | c.321G>A (p.Leu107=) c.99G>A (p.Leu33=) c.1159G>A (n.1159G>A) c.334G>A (p.Gly112Arg) | |
19 | g.41869179G>C | CA507576391 | RPS19 | c.321G>C (p.Leu107=) c.99G>C (p.Leu33=) c.1159G>C (n.1159G>C) c.334G>C (p.Gly112Arg) | |
19 | g.41869179G>T | CA507576392 | RPS19 | c.321G>T (p.Leu107=) c.99G>T (p.Leu33=) c.1159G>T (n.1159G>T) c.334G>T (p.Gly112Ter) | |
19 | g.41869180G>A | CA406030539 | RPS19 | c.322G>A (p.Glu108Lys) c.100G>A (p.Glu34Lys) c.1160G>A (n.1160G>A) c.335G>A (p.Gly112Glu) | |
19 | g.41869180G>C | CA406030540 | RPS19 | c.322G>C (p.Glu108Gln) c.100G>C (p.Glu34Gln) c.1160G>C (n.1160G>C) c.335G>C (p.Gly112Ala) | |
19 | g.41869180G>T | CA406030541 | RPS19 | c.322G>T (p.Glu108Ter) c.100G>T (p.Glu34Ter) c.1160G>T (n.1160G>T) c.335G>T (p.Gly112Val) | |
19 | g.41869181A>C | CA406030542 | RPS19 | c.323A>C (p.Glu108Ala) c.101A>C (p.Glu34Ala) c.1161A>C (n.1161A>C) c.336A>C (p.Gly112=) | |
19 | g.41869181A>G | CA406030543 | RPS19 | c.323A>G (p.Glu108Gly) c.101A>G (p.Glu34Gly) c.1161A>G (n.1161A>G) c.336A>G (p.Gly112=) | |
19 | g.41869181A>T | CA406030544 | RPS19 | c.323A>T (p.Glu108Val) c.101A>T (p.Glu34Val) c.1161A>T (n.1161A>T) c.336A>T (p.Gly112=) | |
19 | g.41869182G>A | CA9465369 | RPS19 | c.324G>A (p.Glu108=) c.102G>A (p.Glu34=) c.1162G>A (n.1162G>A) c.337G>A (p.Gly113Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869182G>C | CA406030545 | RPS19 | c.324G>C (p.Glu108Asp) c.102G>C (p.Glu34Asp) c.1162G>C (n.1162G>C) c.337G>C (p.Gly113Arg) | |
19 | g.41869182G= | CA2336668913 | RPS19 | c.324G= (p.Glu108=) c.102G= (p.Glu34=) c.1162G= (n.1162G=) c.337G= (p.Gly113=) | |
19 | g.41869182G>T | CA406030546 | RPS19 | c.324G>T (p.Glu108Asp) c.102G>T (p.Glu34Asp) c.1162G>T (n.1162G>T) c.337G>T (p.Gly113Trp) | |
19 | g.41869183G>A | CA406030547 | RPS19 | c.325G>A (p.Gly109Arg) c.103G>A (p.Gly35Arg) c.1163G>A (n.1163G>A) c.338G>A (p.Gly113Glu) | |
19 | g.41869183G>C | CA406030548 | RPS19 | c.325G>C (p.Gly109Arg) c.103G>C (p.Gly35Arg) c.1163G>C (n.1163G>C) c.338G>C (p.Gly113Ala) | |
19 | g.41869183G>T | CA406030549 | RPS19 | c.325G>T (p.Gly109Trp) c.103G>T (p.Gly35Trp) c.1163G>T (n.1163G>T) c.338G>T (p.Gly113Val) | |
19 | g.41869184G>A | CA406030550 | RPS19 | c.326G>A (p.Gly109Glu) c.104G>A (p.Gly35Glu) c.1164G>A (n.1164G>A) c.339G>A (p.Gly113=) | |
19 | g.41869184G>C | CA406030552 | RPS19 | c.326G>C (p.Gly109Ala) c.104G>C (p.Gly35Ala) c.1164G>C (n.1164G>C) c.339G>C (p.Gly113=) | |
19 | g.41869184G>T | CA406030551 | RPS19 | c.326G>T (p.Gly109Val) c.104G>T (p.Gly35Val) c.1164G>T (n.1164G>T) c.339G>T (p.Gly113=) | |
19 | g.41869185G>A | CA507576393 | RPS19 | c.327G>A (p.Gly109=) c.105G>A (p.Gly35=) c.1165G>A (n.1165G>A) c.340G>A (p.Ala114Thr) | |
19 | g.41869185G>C | CA507576394 | RPS19 | c.327G>C (p.Gly109=) c.105G>C (p.Gly35=) c.1165G>C (n.1165G>C) c.340G>C (p.Ala114Pro) | |
19 | g.41869185G= | CA2336668914 | RPS19 | c.327G= (p.Gly109=) c.105G= (p.Gly35=) c.1165G= (n.1165G=) c.340G= (p.Ala114=) | |
19 | g.41869185G>T | CA507576395 | RPS19 | c.327G>T (p.Gly109=) c.105G>T (p.Gly35=) c.1165G>T (n.1165G>T) c.340G>T (p.Ala114Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869186del | CA2695228829 | RPS19 | c.328del (p.Leu110Ter) c.106del (p.Leu36Ter) c.1166del (n.1166del) c.341del (p.Ala114ValfsTer?) | |
19 | g.41869186C>A | CA406030553 | RPS19 | c.328C>A (p.Leu110Met) c.106C>A (p.Leu36Met) c.1166C>A (n.1166C>A) c.341C>A (p.Ala114Asp) | |
19 | g.41869186C= | CA2336668915 | RPS19 | c.328C= (p.Leu110=) c.106C= (p.Leu36=) c.1166C= (n.1166C=) c.341C= (p.Ala114=) | |
19 | g.41869186C>G | CA406030554 | RPS19 | c.328C>G (p.Leu110Val) c.106C>G (p.Leu36Val) c.1166C>G (n.1166C>G) c.341C>G (p.Ala114Gly) | ClinVar |
19 | g.41869186C>T | CA507576396 | RPS19 | c.328C>T (p.Leu110=) c.106C>T (p.Leu36=) c.1166C>T (n.1166C>T) c.341C>T (p.Ala114Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869187T>A | CA406030555 | RPS19 | c.329T>A (p.Leu110Gln) c.107T>A (p.Leu36Gln) c.1167T>A (n.1167T>A) c.342T>A (p.Ala114=) | |
19 | g.41869187T>C | CA406030556 | RPS19 | c.329T>C (p.Leu110Pro) c.107T>C (p.Leu36Pro) c.1167T>C (n.1167T>C) c.342T>C (p.Ala114=) | |
19 | g.41869187T>G | CA406030557 | RPS19 | c.329T>G (p.Leu110Arg) c.107T>G (p.Leu36Arg) c.1167T>G (n.1167T>G) c.342T>G (p.Ala114=) | |
19 | g.41869188G>A | CA507576397 | RPS19 | c.330G>A (p.Leu110=) c.108G>A (p.Leu36=) c.1168G>A (n.1168G>A) c.343G>A (p.Glu115Lys) | ClinVar dbSNP |
19 | g.41869188G>C | CA507576398 | RPS19 | c.330G>C (p.Leu110=) c.108G>C (p.Leu36=) c.1168G>C (n.1168G>C) c.343G>C (p.Glu115Gln) | |
19 | g.41869188G>T | CA507576399 | RPS19 | c.330G>T (p.Leu110=) c.108G>T (p.Leu36=) c.1168G>T (n.1168G>T) c.343G>T (p.Glu115Ter) | |
19 | g.41869189A>C | CA406030558 | RPS19 | c.331A>C (p.Lys111Gln) c.109A>C (p.Lys37Gln) c.1169A>C (n.1169A>C) c.344A>C (p.Glu115Ala) | gnomAD v4 |
19 | g.41869189A>G | CA406030559 | RPS19 | c.331A>G (p.Lys111Glu) c.109A>G (p.Lys37Glu) c.1169A>G (n.1169A>G) c.344A>G (p.Glu115Gly) | |
19 | g.41869189A>T | CA406030560 | RPS19 | c.331A>T (p.Lys111Ter) c.109A>T (p.Lys37Ter) c.1169A>T (n.1169A>T) c.344A>T (p.Glu115Val) | |
19 | g.41869192dup | CA2695228830 | RPS19 | c.334dup (p.Met112AsnfsTer?) c.112dup (p.Met38AsnfsTer?) c.347dup (p.Asn116LysfsTer13) | |
19 | g.41869190A>C | CA406030561 | RPS19 | c.332A>C (p.Lys111Thr) c.110A>C (p.Lys37Thr) c.1170A>C (n.1170A>C) c.345A>C (p.Glu115Asp) | gnomAD v4 |
19 | g.41869190A>G | CA406030562 | RPS19 | c.332A>G (p.Lys111Arg) c.110A>G (p.Lys37Arg) c.1170A>G (n.1170A>G) c.345A>G (p.Glu115=) | |
19 | g.41869190A>T | CA406030563 | RPS19 | c.332A>T (p.Lys111Ile) c.110A>T (p.Lys37Ile) c.1170A>T (n.1170A>T) c.345A>T (p.Glu115Asp) | |
19 | g.41869191A= | CA2336668916 | RPS19 | c.333A= (p.Lys111=) c.111A= (p.Lys37=) c.1171A= (n.1171A=) c.346A= (p.Asn116=) | |
19 | g.41869191A>C | CA406030565 | RPS19 | c.333A>C (p.Lys111Asn) c.111A>C (p.Lys37Asn) c.1171A>C (n.1171A>C) c.346A>C (p.Asn116His) | |
19 | g.41869191A>G | CA9465370 | RPS19 | c.333A>G (p.Lys111=) c.111A>G (p.Lys37=) c.1171A>G (n.1171A>G) c.346A>G (p.Asn116Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869191A>T | CA406030564 | RPS19 | c.333A>T (p.Lys111Asn) c.111A>T (p.Lys37Asn) c.1171A>T (n.1171A>T) c.346A>T (p.Asn116Tyr) | |
19 | g.41869192A>C | CA406030566 | RPS19 | c.334A>C (p.Met112Leu) c.112A>C (p.Met38Leu) c.1172A>C (n.1172A>C) c.347A>C (p.Asn116Thr) | |
19 | g.41869192A>G | CA406030567 | RPS19 | c.334A>G (p.Met112Val) c.112A>G (p.Met38Val) c.1172A>G (n.1172A>G) c.347A>G (p.Asn116Ser) | |
19 | g.41869192A>T | CA406030569 | RPS19 | c.334A>T (p.Met112Leu) c.112A>T (p.Met38Leu) c.1172A>T (n.1172A>T) c.347A>T (p.Asn116Ile) | |
19 | g.41869192_41869195delinsATGG | CA2336668917 | RPS19 | c.334_337delinsATGG (p.Met112=) c.112_115delinsATGG (p.Met38=) c.347_350delinsATGG (p.Asn116=) | |
19 | g.41869193T>A | CA406030570 | RPS19 | c.335T>A (p.Met112Lys) c.113T>A (p.Met38Lys) c.348T>A (p.Asn116Lys) | |
19 | g.41869193T>C | CA406030571 | RPS19 | c.335T>C (p.Met112Thr) c.113T>C (p.Met38Thr) c.348T>C (p.Asn116=) | |
19 | g.41869193T>G | CA406030572 | RPS19 | c.335T>G (p.Met112Arg) c.113T>G (p.Met38Arg) c.348T>G (p.Asn116Lys) | |
19 | g.41869196_41869198del | CA16620855 | RPS19 | c.338_340del (p.Val113del) c.116_118del (p.Val39del) c.351_353del (p.Gly118del) | ClinVar dbSNP |
19 | g.41869194G>A | CA406030573 | RPS19 | c.336G>A (p.Met112Ile) c.114G>A (p.Met38Ile) c.349G>A (p.Gly117Ser) | gnomAD v4 |
19 | g.41869194G>C | CA406030574 | RPS19 | c.336G>C (p.Met112Ile) c.114G>C (p.Met38Ile) c.349G>C (p.Gly117Arg) | |
19 | g.41869194G>T | CA406030575 | RPS19 | c.336G>T (p.Met112Ile) c.114G>T (p.Met38Ile) c.349G>T (p.Gly117Cys) | gnomAD v4 |
19 | g.41869195del | CA2814447565 | RPS19 | c.337del (p.Val113TrpfsTer11) c.115del (p.Val39TrpfsTer11) c.350del (p.Gly117ValfsTer?) | |
19 | g.41869195G>A | CA406030576 | RPS19 | c.337G>A (p.Val113Met) c.115G>A (p.Val39Met) c.350G>A (p.Gly117Asp) | dbSNP |
19 | g.41869195G>C | CA406030577 | RPS19 | c.337G>C (p.Val113Leu) c.115G>C (p.Val39Leu) c.350G>C (p.Gly117Ala) | |
19 | g.41869195G= | CA2336668918 | RPS19 | c.337G= (p.Val113=) c.115G= (p.Val39=) c.350G= (p.Gly117=) | |
19 | g.41869195G>T | CA406030578 | RPS19 | c.337G>T (p.Val113Leu) c.115G>T (p.Val39Leu) c.350G>T (p.Gly117Val) | |
19 | g.41869196T>A | CA406030580 | RPS19 | c.338T>A (p.Val113Glu) c.116T>A (p.Val39Glu) c.351T>A (p.Gly117=) | |
19 | g.41869196T>C | CA406030582 | RPS19 | c.338T>C (p.Val113Ala) c.116T>C (p.Val39Ala) c.351T>C (p.Gly117=) | |
19 | g.41869196T>G | CA406030579 | RPS19 | c.338T>G (p.Val113Gly) c.116T>G (p.Val39Gly) c.351T>G (p.Gly117=) | dbSNP |
19 | g.41869196T= | CA2336668919 | RPS19 | c.338T= (p.Val113=) c.116T= (p.Val39=) c.351T= (p.Gly117=) | |
19 | g.41869197G>A | CA507576400 | RPS19 | c.339G>A (p.Val113=) c.117G>A (p.Val39=) c.352G>A (p.Gly118Arg) | gnomAD v4 |
19 | g.41869197G>C | CA507576401 | RPS19 | c.339G>C (p.Val113=) c.117G>C (p.Val39=) c.352G>C (p.Gly118Arg) | |
19 | g.41869197G>T | CA507576402 | RPS19 | c.339G>T (p.Val113=) c.117G>T (p.Val39=) c.352G>T (p.Gly118Ter) | |
19 | g.41869198G>A | CA406030585 | RPS19 | c.340G>A (p.Glu114Lys) c.118G>A (p.Glu40Lys) c.353G>A (p.Gly118Glu) | |
19 | g.41869198G>C | CA406030583 | RPS19 | c.340G>C (p.Glu114Gln) c.118G>C (p.Glu40Gln) c.353G>C (p.Gly118Ala) | |
19 | g.41869198G>T | CA406030584 | RPS19 | c.340G>T (p.Glu114Ter) c.118G>T (p.Glu40Ter) c.353G>T (p.Gly118Val) | |
19 | g.41869198_41869199delinsGA | CA2336668920 | RPS19 | c.340_341delinsGA (p.Glu114=) c.118_119delinsGA (p.Glu40=) c.353_354delinsGA (p.Gly118=) | |
19 | g.41869199A>C | CA406030586 | RPS19 | c.341A>C (p.Glu114Ala) c.119A>C (p.Glu40Ala) c.354A>C (p.Gly118=) | |
19 | g.41869199A>G | CA406030587 | RPS19 | c.341A>G (p.Glu114Gly) c.119A>G (p.Glu40Gly) c.354A>G (p.Gly118=) | |
19 | g.41869199A>T | CA406030588 | RPS19 | c.341A>T (p.Glu114Val) c.119A>T (p.Glu40Val) c.354A>T (p.Gly118=) | |
19 | g.41869201_41869202dup | CA2695228831 | RPS19 | c.343_344dup (p.Asp116ArgfsTer9) c.121_122dup (p.Asp42ArgfsTer9) c.356_357dup (p.Gly120LysfsTer?) | |
19 | g.41869202del | CA633185009 | RPS19 | c.344del (p.Lys115ArgfsTer9) c.122del (p.Lys41ArgfsTer9) c.357del (p.Gly120AspfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869200A>C | CA406030589 | RPS19 | c.342A>C (p.Glu114Asp) c.120A>C (p.Glu40Asp) c.355A>C (p.Lys119Gln) | gnomAD v4 |
19 | g.41869200A>G | CA507576403 | RPS19 | c.342A>G (p.Glu114=) c.120A>G (p.Glu40=) c.355A>G (p.Lys119Glu) | ClinVar |
19 | g.41869200A>T | CA406030590 | RPS19 | c.342A>T (p.Glu114Asp) c.120A>T (p.Glu40Asp) c.355A>T (p.Lys119Ter) | |
19 | g.41869201A>C | CA406030591 | RPS19 | c.343A>C (p.Lys115Gln) c.121A>C (p.Lys41Gln) c.356A>C (p.Lys119Thr) | |
19 | g.41869201A>G | CA406030592 | RPS19 | c.343A>G (p.Lys115Glu) c.121A>G (p.Lys41Glu) c.356A>G (p.Lys119Arg) | |
19 | g.41869201A>T | CA406030593 | RPS19 | c.343A>T (p.Lys115Ter) c.121A>T (p.Lys41Ter) c.356A>T (p.Lys119Ile) | |
19 | g.41869202A>C | CA406030594 | RPS19 | c.344A>C (p.Lys115Thr) c.122A>C (p.Lys41Thr) c.357A>C (p.Lys119Asn) | |
19 | g.41869202A>G | CA406030595 | RPS19 | c.344A>G (p.Lys115Arg) c.122A>G (p.Lys41Arg) c.357A>G (p.Lys119=) | gnomAD v4 |
19 | g.41869202A>T | CA406030596 | RPS19 | c.344A>T (p.Lys115Met) c.122A>T (p.Lys41Met) c.357A>T (p.Lys119Asn) | |
19 | g.41869203G>A | CA507576404 | RPS19 | c.345G>A (p.Lys115=) c.123G>A (p.Lys41=) c.358G>A (p.Gly120Arg) | dbSNP gnomAD v4 |
19 | g.41869203G>C | CA406030598 | RPS19 | c.345G>C (p.Lys115Asn) c.123G>C (p.Lys41Asn) c.358G>C (p.Gly120Arg) | |
19 | g.41869203G= | CA2336668921 | RPS19 | c.345G= (p.Lys115=) c.123G= (p.Lys41=) c.358G= (p.Gly120=) | |
19 | g.41869203G>T | CA406030597 | RPS19 | c.345G>T (p.Lys115Asn) c.123G>T (p.Lys41Asn) c.358G>T (p.Gly120Ter) | gnomAD v4 |
19 | g.41869204G>A | CA406030599 | RPS19 | c.346G>A (p.Asp116Asn) c.124G>A (p.Asp42Asn) c.359G>A (p.Gly120Glu) | |
19 | g.41869204G>C | CA406030600 | RPS19 | c.346G>C (p.Asp116His) c.124G>C (p.Asp42His) c.359G>C (p.Gly120Ala) | |
19 | g.41869204G>T | CA406030601 | RPS19 | c.346G>T (p.Asp116Tyr) c.124G>T (p.Asp42Tyr) c.359G>T (p.Gly120Val) | |
19 | g.41869205del | CA2580097300 | RPS19 | c.347del (p.Asp116AlafsTer8) c.125del (p.Asp42AlafsTer8) c.360del (p.Pro121GlnfsTer?) | ClinVar |
19 | g.41869205A= | CA2336668922 | RPS19 | c.347A= (p.Asp116=) c.125A= (p.Asp42=) c.360A= (p.Gly120=) | |
19 | g.41869205A>C | CA406030602 | RPS19 | c.347A>C (p.Asp116Ala) c.125A>C (p.Asp42Ala) c.360A>C (p.Gly120=) | |
19 | g.41869205A>G | CA406030603 | RPS19 | c.347A>G (p.Asp116Gly) c.125A>G (p.Asp42Gly) c.360A>G (p.Gly120=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869205A>T | CA406030604 | RPS19 | c.347A>T (p.Asp116Val) c.125A>T (p.Asp42Val) c.360A>T (p.Gly120=) | |
19 | g.41869206C>A | CA406030605 | RPS19 | c.348C>A (p.Asp116Glu) c.126C>A (p.Asp42Glu) c.361C>A (p.Pro121Thr) | |
19 | g.41869206C>G | CA406030606 | RPS19 | c.348C>G (p.Asp116Glu) c.126C>G (p.Asp42Glu) c.361C>G (p.Pro121Ala) | |
19 | g.41869206C>T | CA507576405 | RPS19 | c.348C>T (p.Asp116=) c.126C>T (p.Asp42=) c.361C>T (p.Pro121Ser) | gnomAD v4 |