Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21561120_21561127del | CA658795411 | ALPL | c.205_212del (p.Ala69HisfsTer?) n.265_272del c.66+375_66+382del (n.66+375_66+382del) c.40_47del (p.Ala14HisfsTer?) c.67-18_67-11del (n.67-18_67-11del) | ClinVar dbSNP |
1 | g.21561126del | CA2643930017 | ALPL | c.211del (p.Arg71AlafsTer?) n.271del c.66+381del (n.66+381del) c.46del (p.Arg16AlafsTer?) c.67-12del (n.67-12del) | gnomAD v4 |
1 | g.21561126C>A | CA666434 | ALPL | c.211C>A (p.Arg71Ser) n.271C>A c.66+381C>A (n.66+381C>A) c.46C>A (p.Arg16Ser) c.67-12C>A (n.67-12C>A) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.21561126C= | CA1141580631 | ALPL | c.211C= (p.Arg71=) n.271C= c.66+381C= (n.66+381C=) c.46C= (p.Arg16=) c.67-12C= (n.67-12C=) | |
1 | g.21561126C>G | CA338877926 | ALPL | c.211C>G (p.Arg71Gly) n.271C>G c.66+381C>G (n.66+381C>G) c.46C>G (p.Arg16Gly) c.67-12C>G (n.67-12C>G) | ClinVar gnomAD v4 |
1 | g.21561126C>T | CA256920 | ALPL | c.211C>T (p.Arg71Cys) n.271C>T c.66+381C>T (n.66+381C>T) c.46C>T (p.Arg16Cys) c.67-12C>T (n.67-12C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.21561127G>A | CA19088467 | ALPL | c.212G>A (p.Arg71His) n.272G>A c.66+382G>A (n.66+382G>A) c.47G>A (p.Arg16His) c.67-11G>A (n.67-11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21561127G>C | CA256922 | ALPL | c.212G>C (p.Arg71Pro) n.272G>C c.66+382G>C (n.66+382G>C) c.47G>C (p.Arg16Pro) c.67-11G>C (n.67-11G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21561127G= | CA1141580632 | ALPL | c.212G= (p.Arg71=) n.272G= c.66+382G= (n.66+382G=) c.47G= (p.Arg16=) c.67-11G= (n.67-11G=) | |
1 | g.21561127G>T | CA338877929 | ALPL | c.212G>T (p.Arg71Leu) n.272G>T c.66+382G>T (n.66+382G>T) c.47G>T (p.Arg16Leu) c.67-11G>T (n.67-11G>T) | |
1 | g.21561128C>A | CA416534102 | ALPL | c.213C>A (p.Arg71=) n.273C>A c.66+383C>A (n.66+383C>A) c.48C>A (p.Arg16=) c.67-10C>A (n.67-10C>A) | |
1 | g.21561128C>G | CA416534101 | ALPL | c.213C>G (p.Arg71=) n.273C>G c.66+383C>G (n.66+383C>G) c.48C>G (p.Arg16=) c.67-10C>G (n.67-10C>G) | |
1 | g.21561128C>T | CA416534100 | ALPL | c.213C>T (p.Arg71=) n.273C>T c.66+383C>T (n.66+383C>T) c.48C>T (p.Arg16=) c.67-10C>T (n.67-10C>T) | gnomAD v4 |
1 | g.21561129A>C | CA338877931 | ALPL | c.214A>C (p.Ile72Leu) n.274A>C c.66+384A>C (n.66+384A>C) c.49A>C (p.Ile17Leu) c.67-9A>C (n.67-9A>C) | |
1 | g.21561129A>G | CA338877933 | ALPL | c.214A>G (p.Ile72Val) n.274A>G c.66+384A>G (n.66+384A>G) c.49A>G (p.Ile17Val) c.67-9A>G (n.67-9A>G) | ClinVar dbSNP |
1 | g.21561129A>T | CA338877934 | ALPL | c.214A>T (p.Ile72Phe) n.274A>T c.66+384A>T (n.66+384A>T) c.49A>T (p.Ile17Phe) c.67-9A>T (n.67-9A>T) | |
1 | g.21561130T>A | CA338877935 | ALPL | c.215T>A (p.Ile72Asn) n.275T>A c.66+385T>A (n.66+385T>A) c.50T>A (p.Ile17Asn) c.67-8T>A (n.67-8T>A) | |
1 | g.21561130T>C | CA274142 | ALPL | c.215T>C (p.Ile72Thr) n.275T>C c.66+385T>C (n.66+385T>C) c.50T>C (p.Ile17Thr) c.67-8T>C (n.67-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561130T>G | CA338877938 | ALPL | c.215T>G (p.Ile72Ser) n.275T>G c.66+385T>G (n.66+385T>G) c.50T>G (p.Ile17Ser) c.67-8T>G (n.67-8T>G) | |
1 | g.21561130T= | CA1158013231 | ALPL | c.215T= (p.Ile72=) n.275T= c.66+385T= (n.66+385T=) c.50T= (p.Ile17=) c.67-8T= (n.67-8T=) | |
1 | g.21561132_21561134del | CA2499214447 | ALPL | c.217_219del (p.Leu73del) n.277_279del c.66+387_66+389del (n.66+387_66+389del) c.52_54del (p.Leu18del) c.67-6_67-4del (n.67-6_67-4del) | ClinVar dbSNP gnomAD v4 |
1 | g.21561131C>A | CA416534103 | ALPL | c.216C>A (p.Ile72=) n.276C>A c.66+386C>A (n.66+386C>A) c.51C>A (p.Ile17=) c.67-7C>A (n.67-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21561131C= | CA1158013232 | ALPL | c.216C= (p.Ile72=) n.276C= c.66+386C= (n.66+386C=) c.51C= (p.Ile17=) c.67-7C= (n.67-7C=) | |
1 | g.21561131C>G | CA338877940 | ALPL | c.216C>G (p.Ile72Met) n.276C>G c.66+386C>G (n.66+386C>G) c.51C>G (p.Ile17Met) c.67-7C>G (n.67-7C>G) | |
1 | g.21561131C>T | CA416534104 | ALPL | c.216C>T (p.Ile72=) n.276C>T c.66+386C>T (n.66+386C>T) c.51C>T (p.Ile17=) c.67-7C>T (n.67-7C>T) | |
1 | g.21561132dup | CA2842310371 | ALPL | c.217dup (p.Leu73ProfsTer?) n.277dup c.66+387dup (n.66+387dup) c.52dup (p.Leu18ProfsTer?) c.67-6dup (n.67-6dup) | |
1 | g.21561132C>A | CA338877944 | ALPL | c.217C>A (p.Leu73Ile) n.277C>A c.66+387C>A (n.66+387C>A) c.52C>A (p.Leu18Ile) c.67-6C>A (n.67-6C>A) | |
1 | g.21561132C>G | CA338877946 | ALPL | c.217C>G (p.Leu73Val) n.277C>G c.66+387C>G (n.66+387C>G) c.52C>G (p.Leu18Val) c.67-6C>G (n.67-6C>G) | |
1 | g.21561132C>T | CA338877942 | ALPL | c.217C>T (p.Leu73Phe) n.277C>T c.66+387C>T (n.66+387C>T) c.52C>T (p.Leu18Phe) c.67-6C>T (n.67-6C>T) | |
1 | g.21561133T>A | CA338877948 | ALPL | c.218T>A (p.Leu73His) n.278T>A c.66+388T>A (n.66+388T>A) c.53T>A (p.Leu18His) c.67-5T>A (n.67-5T>A) | |
1 | g.21561133T>C | CA338877950 | ALPL | c.218T>C (p.Leu73Pro) n.278T>C c.66+388T>C (n.66+388T>C) c.53T>C (p.Leu18Pro) c.67-5T>C (n.67-5T>C) | |
1 | g.21561133T>G | CA338877951 | ALPL | c.218T>G (p.Leu73Arg) n.278T>G c.66+388T>G (n.66+388T>G) c.53T>G (p.Leu18Arg) c.67-5T>G (n.67-5T>G) | |
1 | g.21561134C>A | CA416534105 | ALPL | c.219C>A (p.Leu73=) n.279C>A c.66+389C>A (n.66+389C>A) c.54C>A (p.Leu18=) c.67-4C>A (n.67-4C>A) | |
1 | g.21561134C= | CA1158013233 | ALPL | c.219C= (p.Leu73=) n.279C= c.66+389C= (n.66+389C=) c.54C= (p.Leu18=) c.67-4C= (n.67-4C=) | |
1 | g.21561134C>G | CA416534106 | ALPL | c.219C>G (p.Leu73=) n.279C>G c.66+389C>G (n.66+389C>G) c.54C>G (p.Leu18=) c.67-4C>G (n.67-4C>G) | |
1 | g.21561134C>T | CA416534107 | ALPL | c.219C>T (p.Leu73=) n.279C>T c.66+389C>T (n.66+389C>T) c.54C>T (p.Leu18=) c.67-4C>T (n.67-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561134_21561141del | CA645512747 | ALPL | c.219_226del (p.Lys74AlafsTer?) n.279_286del c.66+389_66+396del (n.66+389_66+396del) c.54_61del (p.Lys19AlafsTer?) c.67-4_70del | COSMIC |
1 | g.21561135A>C | CA338877953 | ALPL | c.220A>C (p.Lys74Gln) n.280A>C c.66+390A>C (n.66+390A>C) c.55A>C (p.Lys19Gln) c.67-3A>C (n.67-3A>C) | |
1 | g.21561135A>G | CA338877955 | ALPL | c.220A>G (p.Lys74Glu) n.280A>G c.66+390A>G (n.66+390A>G) c.55A>G (p.Lys19Glu) c.67-3A>G (n.67-3A>G) | |
1 | g.21561135A>T | CA338877957 | ALPL | c.220A>T (p.Lys74Ter) n.280A>T c.66+390A>T (n.66+390A>T) c.55A>T (p.Lys19Ter) c.67-3A>T (n.67-3A>T) | |
1 | g.21561136A= | CA1141956787 | ALPL | c.221A= (p.Lys74=) n.281A= c.66+391A= (n.66+391A=) c.56A= (p.Lys19=) c.67-2A= (n.67-2A=) | |
1 | g.21561136A>C | CA338877958 | ALPL | c.221A>C (p.Lys74Thr) n.281A>C c.66+391A>C (n.66+391A>C) c.56A>C (p.Lys19Thr) c.67-2A>C (n.67-2A>C) | |
1 | g.21561136A>G | CA666435 | ALPL | c.221A>G (p.Lys74Arg) n.281A>G c.66+391A>G (n.66+391A>G) c.56A>G (p.Lys19Arg) c.67-2A>G (n.67-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561136A>T | CA338877961 | ALPL | c.221A>T (p.Lys74Met) n.281A>T c.66+391A>T (n.66+391A>T) c.56A>T (p.Lys19Met) c.67-2A>T (n.67-2A>T) | |
1 | g.21561137G>A | CA416534108 | ALPL | c.222G>A (p.Lys74=) n.282G>A c.66+392G>A (n.66+392G>A) c.57G>A (p.Lys19=) c.67-1G>A (n.67-1G>A) | |
1 | g.21561137G>C | CA338877962 | ALPL | c.222G>C (p.Lys74Asn) n.282G>C c.66+392G>C (n.66+392G>C) c.57G>C (p.Lys19Asn) c.67-1G>C (n.67-1G>C) | |
1 | g.21561137G>T | CA338877963 | ALPL | c.222G>T (p.Lys74Asn) n.282G>T c.66+392G>T (n.66+392G>T) c.57G>T (p.Lys19Asn) c.67-1G>T (n.67-1G>T) | |
1 | g.21561139dup | CA913072868 | ALPL | c.224dup (p.Gln76SerfsTer?) n.284dup c.66+394dup (n.66+394dup) c.59dup (p.Gln21SerfsTer?) c.68dup | |
1 | g.21561138G>A | CA338877969 | ALPL | c.223G>A (p.Gly75Ser) n.283G>A c.66+393G>A (n.66+393G>A) c.58G>A (p.Gly20Ser) c.67G>A (p.Gly23Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561138G>C | CA338877968 | ALPL | c.223G>C (p.Gly75Arg) n.283G>C c.66+393G>C (n.66+393G>C) c.58G>C (p.Gly20Arg) c.67G>C (p.Gly23Arg) | |
1 | g.21561138G= | CA1158013234 | ALPL | c.223G= (p.Gly75=) n.283G= c.66+393G= (n.66+393G=) c.58G= (p.Gly20=) c.67G= (p.Gly23=) | |
1 | g.21561138G>T | CA338877966 | ALPL | c.223G>T (p.Gly75Cys) n.283G>T c.66+393G>T (n.66+393G>T) c.58G>T (p.Gly20Cys) c.67G>T (p.Gly23Cys) | |
1 | g.21561139G>A | CA338877972 | ALPL | c.224G>A (p.Gly75Asp) n.284G>A c.66+394G>A (n.66+394G>A) c.59G>A (p.Gly20Asp) c.68G>A (p.Gly23Asp) | |
1 | g.21561139G>C | CA338877974 | ALPL | c.224G>C (p.Gly75Ala) n.284G>C c.66+394G>C (n.66+394G>C) c.59G>C (p.Gly20Ala) c.68G>C (p.Gly23Ala) | |
1 | g.21561139G>T | CA338877975 | ALPL | c.224G>T (p.Gly75Val) n.284G>T c.66+394G>T (n.66+394G>T) c.59G>T (p.Gly20Val) c.68G>T (p.Gly23Val) | |
1 | g.21561140_21561143dup | CA658820984 | ALPL | c.225_228dup (p.Leu77SerfsTer?) n.285_288dup c.66+395_66+398dup (n.66+395_66+398dup) c.60_63dup (p.Leu22SerfsTer?) c.69_72dup (p.Leu25SerfsTer?) | ClinVar dbSNP |
1 | g.21561140T>A | CA416534110 | ALPL | c.225T>A (p.Gly75=) n.285T>A c.66+395T>A (n.66+395T>A) c.60T>A (p.Gly20=) c.69T>A (p.Gly23=) | |
1 | g.21561140T>C | CA416534111 | ALPL | c.225T>C (p.Gly75=) n.285T>C c.66+395T>C (n.66+395T>C) c.60T>C (p.Gly20=) c.69T>C (p.Gly23=) | gnomAD v4 |
1 | g.21561140T>G | CA416534109 | ALPL | c.225T>G (p.Gly75=) n.285T>G c.66+395T>G (n.66+395T>G) c.60T>G (p.Gly20=) c.69T>G (p.Gly23=) | ClinVar dbSNP |
1 | g.21561140T= | CA1158013235 | ALPL | c.225T= (p.Gly75=) n.285T= c.66+395T= (n.66+395T=) c.60T= (p.Gly20=) c.69T= (p.Gly23=) | |
1 | g.21561141C>A | CA338877977 | ALPL | c.226C>A (p.Gln76Lys) n.286C>A c.66+396C>A (n.66+396C>A) c.61C>A (p.Gln21Lys) c.70C>A (p.Gln24Lys) | |
1 | g.21561141C= | CA1158013236 | ALPL | c.226C= (p.Gln76=) n.286C= c.66+396C= (n.66+396C=) c.61C= (p.Gln21=) c.70C= (p.Gln24=) | |
1 | g.21561141C>G | CA338877979 | ALPL | c.226C>G (p.Gln76Glu) n.286C>G c.66+396C>G (n.66+396C>G) c.61C>G (p.Gln21Glu) c.70C>G (p.Gln24Glu) | |
1 | g.21561141C>T | CA338877981 | ALPL | c.226C>T (p.Gln76Ter) n.286C>T c.66+396C>T (n.66+396C>T) c.61C>T (p.Gln21Ter) c.70C>T (p.Gln24Ter) | ClinVar dbSNP gnomAD v2 |
1 | g.21561142A= | CA1158013237 | ALPL | c.227A= (p.Gln76=) n.287A= c.66+397A= (n.66+397A=) c.62A= (p.Gln21=) c.71A= (p.Gln24=) | |
1 | g.21561142A>C | CA338877983 | ALPL | c.227A>C (p.Gln76Pro) n.287A>C c.66+397A>C (n.66+397A>C) c.62A>C (p.Gln21Pro) c.71A>C (p.Gln24Pro) | |
1 | g.21561142A>G | CA16603529 | ALPL | c.227A>G (p.Gln76Arg) n.287A>G c.66+397A>G (n.66+397A>G) c.62A>G (p.Gln21Arg) c.71A>G (p.Gln24Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561142A>T | CA338877986 | ALPL | c.227A>T (p.Gln76Leu) n.287A>T c.66+397A>T (n.66+397A>T) c.62A>T (p.Gln21Leu) c.71A>T (p.Gln24Leu) | |
1 | g.21561143del | CA2586966218 | ALPL | c.228del (p.Gln76HisfsTer?) n.288del c.66+398del (n.66+398del) c.63del (p.Gln21HisfsTer?) c.72del (p.Gln24HisfsTer?) | |
1 | g.21561143G>A | CA416534112 | ALPL | c.228G>A (p.Gln76=) n.288G>A c.66+398G>A (n.66+398G>A) c.63G>A (p.Gln21=) c.72G>A (p.Gln24=) | |
1 | g.21561143G>C | CA338877988 | ALPL | c.228G>C (p.Gln76His) n.288G>C c.66+398G>C (n.66+398G>C) c.63G>C (p.Gln21His) c.72G>C (p.Gln24His) | |
1 | g.21561143G>T | CA338877990 | ALPL | c.228G>T (p.Gln76His) n.288G>T c.66+398G>T (n.66+398G>T) c.63G>T (p.Gln21His) c.72G>T (p.Gln24His) | |
1 | g.21561144C>A | CA338877995 | ALPL | c.229C>A (p.Leu77Ile) n.289C>A c.66+399C>A (n.66+399C>A) c.64C>A (p.Leu22Ile) c.73C>A (p.Leu25Ile) | |
1 | g.21561144C>G | CA338877993 | ALPL | c.229C>G (p.Leu77Val) n.289C>G c.66+399C>G (n.66+399C>G) c.64C>G (p.Leu22Val) c.73C>G (p.Leu25Val) | |
1 | g.21561144C>T | CA338877992 | ALPL | c.229C>T (p.Leu77Phe) n.289C>T c.66+399C>T (n.66+399C>T) c.64C>T (p.Leu22Phe) c.73C>T (p.Leu25Phe) | |
1 | g.21561145T>A | CA338877997 | ALPL | c.230T>A (p.Leu77His) n.290T>A c.66+400T>A (n.66+400T>A) c.65T>A (p.Leu22His) c.74T>A (p.Leu25His) | |
1 | g.21561145T>C | CA338878001 | ALPL | c.230T>C (p.Leu77Pro) n.290T>C c.66+400T>C (n.66+400T>C) c.65T>C (p.Leu22Pro) c.74T>C (p.Leu25Pro) | |
1 | g.21561145T>G | CA338877999 | ALPL | c.230T>G (p.Leu77Arg) n.290T>G c.66+400T>G (n.66+400T>G) c.65T>G (p.Leu22Arg) c.74T>G (p.Leu25Arg) | |
1 | g.21561146C>A | CA416534115 | ALPL | c.231C>A (p.Leu77=) n.291C>A c.66+401C>A (n.66+401C>A) c.66C>A (p.Leu22=) c.75C>A (p.Leu25=) | |
1 | g.21561146C>G | CA416534113 | ALPL | c.231C>G (p.Leu77=) n.291C>G c.66+401C>G (n.66+401C>G) c.66C>G (p.Leu22=) c.75C>G (p.Leu25=) | |
1 | g.21561146C>T | CA416534114 | ALPL | c.231C>T (p.Leu77=) n.291C>T c.66+401C>T (n.66+401C>T) c.66C>T (p.Leu22=) c.75C>T (p.Leu25=) | |
1 | g.21561147C>A | CA338878003 | ALPL | c.232C>A (p.His78Asn) n.292C>A c.66+402C>A (n.66+402C>A) c.67C>A (p.His23Asn) c.76C>A (p.His26Asn) | |
1 | g.21561147C= | CA1158013238 | ALPL | c.232C= (p.His78=) n.292C= c.66+402C= (n.66+402C=) c.67C= (p.His23=) c.76C= (p.His26=) | |
1 | g.21561147C>G | CA338878004 | ALPL | c.232C>G (p.His78Asp) n.292C>G c.66+402C>G (n.66+402C>G) c.67C>G (p.His23Asp) c.76C>G (p.His26Asp) | |
1 | g.21561147C>T | CA338878005 | ALPL | c.232C>T (p.His78Tyr) n.292C>T c.66+402C>T (n.66+402C>T) c.67C>T (p.His23Tyr) c.76C>T (p.His26Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561148A>C | CA338878008 | ALPL | c.233A>C (p.His78Pro) n.293A>C c.66+403A>C (n.66+403A>C) c.68A>C (p.His23Pro) c.77A>C (p.His26Pro) | |
1 | g.21561148A>G | CA338878010 | ALPL | c.233A>G (p.His78Arg) n.293A>G c.66+403A>G (n.66+403A>G) c.68A>G (p.His23Arg) c.77A>G (p.His26Arg) | |
1 | g.21561148A>T | CA338878012 | ALPL | c.233A>T (p.His78Leu) n.293A>T c.66+403A>T (n.66+403A>T) c.68A>T (p.His23Leu) c.77A>T (p.His26Leu) | |
1 | g.21561149C>A | CA338878014 | ALPL | c.234C>A (p.His78Gln) n.294C>A c.66+404C>A (n.66+404C>A) c.69C>A (p.His23Gln) c.78C>A (p.His26Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561149C= | CA1158013239 | ALPL | c.234C= (p.His78=) n.294C= c.66+404C= (n.66+404C=) c.69C= (p.His23=) c.78C= (p.His26=) | |
1 | g.21561149C>G | CA338878016 | ALPL | c.234C>G (p.His78Gln) n.294C>G c.66+404C>G (n.66+404C>G) c.69C>G (p.His23Gln) c.78C>G (p.His26Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561149C>T | CA416534116 | ALPL | c.234C>T (p.His78=) n.294C>T c.66+404C>T (n.66+404C>T) c.69C>T (p.His23=) c.78C>T (p.His26=) | dbSNP gnomAD v4 |
1 | g.21561150C>A | CA338878019 | ALPL | c.235C>A (p.His79Asn) n.295C>A c.66+405C>A (n.66+405C>A) c.70C>A (p.His24Asn) c.79C>A (p.His27Asn) | |
1 | g.21561150C>G | CA338878020 | ALPL | c.235C>G (p.His79Asp) n.295C>G c.66+405C>G (n.66+405C>G) c.70C>G (p.His24Asp) c.79C>G (p.His27Asp) | |
1 | g.21561150C>T | CA338878022 | ALPL | c.235C>T (p.His79Tyr) n.295C>T c.66+405C>T (n.66+405C>T) c.70C>T (p.His24Tyr) c.79C>T (p.His27Tyr) | |
1 | g.21561152_21561153del | CA2695197985 | ALPL | c.237_238del (p.His79GlnfsTer30) n.297_298del c.66+407_66+408del (n.66+407_66+408del) c.72_73del (p.His24GlnfsTer30) c.81_82del (p.His27GlnfsTer30) | ClinVar |
1 | g.21561151A>C | CA338878027 | ALPL | c.236A>C (p.His79Pro) n.296A>C c.66+406A>C (n.66+406A>C) c.71A>C (p.His24Pro) c.80A>C (p.His27Pro) | |
1 | g.21561151A>G | CA338878024 | ALPL | c.236A>G (p.His79Arg) n.296A>G c.66+406A>G (n.66+406A>G) c.71A>G (p.His24Arg) c.80A>G (p.His27Arg) | gnomAD v4 |
1 | g.21561151A>T | CA338878026 | ALPL | c.236A>T (p.His79Leu) n.296A>T c.66+406A>T (n.66+406A>T) c.71A>T (p.His24Leu) c.80A>T (p.His27Leu) | |
1 | g.21561152C>A | CA338878028 | ALPL | c.237C>A (p.His79Gln) n.297C>A c.66+407C>A (n.66+407C>A) c.72C>A (p.His24Gln) c.81C>A (p.His27Gln) | |
1 | g.21561152C= | CA1158013240 | ALPL | c.237C= (p.His79=) n.297C= c.66+407C= (n.66+407C=) c.72C= (p.His24=) c.81C= (p.His27=) | |
1 | g.21561152C>G | CA338878029 | ALPL | c.237C>G (p.His79Gln) n.297C>G c.66+407C>G (n.66+407C>G) c.72C>G (p.His24Gln) c.81C>G (p.His27Gln) | |
1 | g.21561152C>T | CA416534117 | ALPL | c.237C>T (p.His79=) n.297C>T c.66+407C>T (n.66+407C>T) c.72C>T (p.His24=) c.81C>T (p.His27=) | ClinVar dbSNP gnomAD v4 |
1 | g.21561153A>C | CA338878031 | ALPL | c.238A>C (p.Asn80His) n.298A>C c.66+408A>C (n.66+408A>C) c.73A>C (p.Asn25His) c.82A>C (p.Asn28His) | |
1 | g.21561153A>G | CA338878032 | ALPL | c.238A>G (p.Asn80Asp) n.298A>G c.66+408A>G (n.66+408A>G) c.73A>G (p.Asn25Asp) c.82A>G (p.Asn28Asp) | |
1 | g.21561153A>T | CA338878034 | ALPL | c.238A>T (p.Asn80Tyr) n.298A>T c.66+408A>T (n.66+408A>T) c.73A>T (p.Asn25Tyr) c.82A>T (p.Asn28Tyr) | |
1 | g.21561154A= | CA1158013241 | ALPL | c.239A= (p.Asn80=) n.299A= c.66+409A= (n.66+409A=) c.74A= (p.Asn25=) c.83A= (p.Asn28=) | |
1 | g.21561154A>C | CA338878036 | ALPL | c.239A>C (p.Asn80Thr) n.299A>C c.66+409A>C (n.66+409A>C) c.74A>C (p.Asn25Thr) c.83A>C (p.Asn28Thr) | |
1 | g.21561154A>G | CA19088493 | ALPL | c.239A>G (p.Asn80Ser) n.299A>G c.66+409A>G (n.66+409A>G) c.74A>G (p.Asn25Ser) c.83A>G (p.Asn28Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561154A>T | CA338878038 | ALPL | c.239A>T (p.Asn80Ile) n.299A>T c.66+409A>T (n.66+409A>T) c.74A>T (p.Asn25Ile) c.83A>T (p.Asn28Ile) | |
1 | g.21561155C>A | CA666436 | ALPL | c.240C>A (p.Asn80Lys) n.300C>A c.66+410C>A (n.66+410C>A) c.75C>A (p.Asn25Lys) c.84C>A (p.Asn28Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21561155C= | CA1158013242 | ALPL | c.240C= (p.Asn80=) n.300C= c.66+410C= (n.66+410C=) c.75C= (p.Asn25=) c.84C= (p.Asn28=) | |
1 | g.21561155C>G | CA338878041 | ALPL | c.240C>G (p.Asn80Lys) n.300C>G c.66+410C>G (n.66+410C>G) c.75C>G (p.Asn25Lys) c.84C>G (p.Asn28Lys) | |
1 | g.21561155C>T | CA416534118 | ALPL | c.240C>T (p.Asn80=) n.300C>T c.66+410C>T (n.66+410C>T) c.75C>T (p.Asn25=) c.84C>T (p.Asn28=) | dbSNP |
1 | g.21561156C>A | CA338878043 | ALPL | c.241C>A (p.Pro81Thr) n.301C>A c.66+411C>A (n.66+411C>A) c.76C>A (p.Pro26Thr) c.85C>A (p.Pro29Thr) | |
1 | g.21561156C= | CA1158013243 | ALPL | c.241C= (p.Pro81=) n.301C= c.66+411C= (n.66+411C=) c.76C= (p.Pro26=) c.85C= (p.Pro29=) | |
1 | g.21561156C>G | CA338878045 | ALPL | c.241C>G (p.Pro81Ala) n.301C>G c.66+411C>G (n.66+411C>G) c.76C>G (p.Pro26Ala) c.85C>G (p.Pro29Ala) | |
1 | g.21561156C>T | CA19088495 | ALPL | c.241C>T (p.Pro81Ser) n.301C>T c.66+411C>T (n.66+411C>T) c.76C>T (p.Pro26Ser) c.85C>T (p.Pro29Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21561157C>A | CA338878047 | ALPL | c.242C>A (p.Pro81His) n.302C>A c.66+412C>A (n.66+412C>A) c.77C>A (p.Pro26His) c.86C>A (p.Pro29His) | |
1 | g.21561157C>G | CA338878049 | ALPL | c.242C>G (p.Pro81Arg) n.302C>G c.66+412C>G (n.66+412C>G) c.77C>G (p.Pro26Arg) c.86C>G (p.Pro29Arg) | |
1 | g.21561157C>T | CA338878053 | ALPL | c.242C>T (p.Pro81Leu) n.302C>T c.66+412C>T (n.66+412C>T) c.77C>T (p.Pro26Leu) c.86C>T (p.Pro29Leu) | |
1 | g.21561158T>A | CA416534120 | ALPL | c.243T>A (p.Pro81=) n.303T>A c.66+413T>A (n.66+413T>A) c.78T>A (p.Pro26=) c.87T>A (p.Pro29=) | dbSNP |
1 | g.21561158T>C | CA416534119 | ALPL | c.243T>C (p.Pro81=) n.303T>C c.66+413T>C (n.66+413T>C) c.78T>C (p.Pro26=) c.87T>C (p.Pro29=) | gnomAD v4 |
1 | g.21561158T>G | CA416534121 | ALPL | c.243T>G (p.Pro81=) n.303T>G c.66+413T>G (n.66+413T>G) c.78T>G (p.Pro26=) c.87T>G (p.Pro29=) | |
1 | g.21561158T= | CA1158013244 | ALPL | c.243T= (p.Pro81=) n.303T= c.66+413T= (n.66+413T=) c.78T= (p.Pro26=) c.87T= (p.Pro29=) | |
1 | g.21561159G>A | CA338878055 | ALPL | c.244G>A (p.Gly82Arg) n.304G>A c.66+414G>A (n.66+414G>A) c.79G>A (p.Gly27Arg) c.88G>A (p.Gly30Arg) | ClinVar |
1 | g.21561159G>C | CA338878058 | ALPL | c.244G>C (p.Gly82Arg) n.304G>C c.66+414G>C (n.66+414G>C) c.79G>C (p.Gly27Arg) c.88G>C (p.Gly30Arg) | ClinVar |
1 | g.21561159G>T | CA338878060 | ALPL | c.244G>T (p.Gly82Trp) n.304G>T c.66+414G>T (n.66+414G>T) c.79G>T (p.Gly27Trp) c.88G>T (p.Gly30Trp) | |
1 | g.21561162dup | CA2842310372 | ALPL | c.247dup (p.Glu83GlyfsTer27) n.307dup c.66+417dup (n.66+417dup) c.82dup (p.Glu28GlyfsTer27) c.91dup (p.Glu31GlyfsTer27) | |
1 | g.21561160G>A | CA338878061 | ALPL | c.245G>A (p.Gly82Glu) n.305G>A c.66+415G>A (n.66+415G>A) c.80G>A (p.Gly27Glu) c.89G>A (p.Gly30Glu) | ClinVar dbSNP |
1 | g.21561160G>C | CA338878064 | ALPL | c.245G>C (p.Gly82Ala) n.305G>C c.66+415G>C (n.66+415G>C) c.80G>C (p.Gly27Ala) c.89G>C (p.Gly30Ala) | |
1 | g.21561160G>T | CA338878066 | ALPL | c.245G>T (p.Gly82Val) n.305G>T c.66+415G>T (n.66+415G>T) c.80G>T (p.Gly27Val) c.89G>T (p.Gly30Val) | |
1 | g.21561161G>A | CA416534122 | ALPL | c.246G>A (p.Gly82=) n.306G>A c.66+416G>A (n.66+416G>A) c.81G>A (p.Gly27=) c.90G>A (p.Gly30=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21561161G>C | CA416534124 | ALPL | c.246G>C (p.Gly82=) n.306G>C c.66+416G>C (n.66+416G>C) c.81G>C (p.Gly27=) c.90G>C (p.Gly30=) | |
1 | g.21561161G= | CA1158013245 | ALPL | c.246G= (p.Gly82=) n.306G= c.66+416G= (n.66+416G=) c.81G= (p.Gly27=) c.90G= (p.Gly30=) | |
1 | g.21561161G>T | CA416534123 | ALPL | c.246G>T (p.Gly82=) n.306G>T c.66+416G>T (n.66+416G>T) c.81G>T (p.Gly27=) c.90G>T (p.Gly30=) | |
1 | g.21561162G>A | CA338878068 | ALPL | c.247G>A (p.Glu83Lys) n.307G>A c.66+417G>A (n.66+417G>A) c.82G>A (p.Glu28Lys) c.91G>A (p.Glu31Lys) | COSMIC |
1 | g.21561162G>C | CA338878070 | ALPL | c.247G>C (p.Glu83Gln) n.307G>C c.66+417G>C (n.66+417G>C) c.82G>C (p.Glu28Gln) c.91G>C (p.Glu31Gln) | |
1 | g.21561162G>T | CA338878072 | ALPL | c.247G>T (p.Glu83Ter) n.307G>T c.66+417G>T (n.66+417G>T) c.82G>T (p.Glu28Ter) c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.21561163A>C | CA338878076 | ALPL | c.248A>C (p.Glu83Ala) n.308A>C c.66+418A>C (n.66+418A>C) c.83A>C (p.Glu28Ala) c.92A>C (p.Glu31Ala) | |
1 | g.21561163A>G | CA338878077 | ALPL | c.248A>G (p.Glu83Gly) n.308A>G c.66+418A>G (n.66+418A>G) c.83A>G (p.Glu28Gly) c.92A>G (p.Glu31Gly) | |
1 | g.21561163A>T | CA338878074 | ALPL | c.248A>T (p.Glu83Val) n.308A>T c.66+418A>T (n.66+418A>T) c.83A>T (p.Glu28Val) c.92A>T (p.Glu31Val) | |
1 | g.21561164G>A | CA416534125 | ALPL | c.249G>A (p.Glu83=) n.309G>A c.66+419G>A (n.66+419G>A) c.84G>A (p.Glu28=) c.93G>A (p.Glu31=) | dbSNP gnomAD v2 |
1 | g.21561164G>C | CA338878080 | ALPL | c.249G>C (p.Glu83Asp) n.309G>C c.66+419G>C (n.66+419G>C) c.84G>C (p.Glu28Asp) c.93G>C (p.Glu31Asp) | |
1 | g.21561164G= | CA1158013246 | ALPL | c.249G= (p.Glu83=) n.309G= c.66+419G= (n.66+419G=) c.84G= (p.Glu28=) c.93G= (p.Glu31=) | |
1 | g.21561164G>T | CA338878081 | ALPL | c.249G>T (p.Glu83Asp) n.309G>T c.66+419G>T (n.66+419G>T) c.84G>T (p.Glu28Asp) c.93G>T (p.Glu31Asp) | |
1 | g.21561165G>A | CA338878083 | ALPL | c.250G>A (p.Glu84Lys) n.310G>A c.66+420G>A (n.66+420G>A) c.85G>A (p.Glu29Lys) c.94G>A (p.Glu32Lys) | |
1 | g.21561165G>C | CA338878085 | ALPL | c.250G>C (p.Glu84Gln) n.310G>C c.66+420G>C (n.66+420G>C) c.85G>C (p.Glu29Gln) c.94G>C (p.Glu32Gln) | |
1 | g.21561165G>T | CA338878087 | ALPL | c.250G>T (p.Glu84Ter) n.310G>T c.66+420G>T (n.66+420G>T) c.85G>T (p.Glu29Ter) c.94G>T (p.Glu32Ter) | |
1 | g.21561166A>C | CA338878092 | ALPL | c.251A>C (p.Glu84Ala) n.311A>C c.66+421A>C (n.66+421A>C) c.86A>C (p.Glu29Ala) c.95A>C (p.Glu32Ala) | |
1 | g.21561166A>G | CA338878089 | ALPL | c.251A>G (p.Glu84Gly) n.311A>G c.66+421A>G (n.66+421A>G) c.86A>G (p.Glu29Gly) c.95A>G (p.Glu32Gly) | |
1 | g.21561166A>T | CA338878091 | ALPL | c.251A>T (p.Glu84Val) n.311A>T c.66+421A>T (n.66+421A>T) c.86A>T (p.Glu29Val) c.95A>T (p.Glu32Val) | |
1 | g.21561167G>A | CA416534126 | ALPL | c.252G>A (p.Glu84=) n.312G>A c.66+422G>A (n.66+422G>A) c.87G>A (p.Glu29=) c.96G>A (p.Glu32=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561167G>C | CA338878093 | ALPL | c.252G>C (p.Glu84Asp) n.312G>C c.66+422G>C (n.66+422G>C) c.87G>C (p.Glu29Asp) c.96G>C (p.Glu32Asp) | gnomAD v4 |
1 | g.21561167G= | CA1158013247 | ALPL | c.252G= (p.Glu84=) n.312G= c.66+422G= (n.66+422G=) c.87G= (p.Glu29=) c.96G= (p.Glu32=) | |
1 | g.21561167G>T | CA338878095 | ALPL | c.252G>T (p.Glu84Asp) n.312G>T c.66+422G>T (n.66+422G>T) c.87G>T (p.Glu29Asp) c.96G>T (p.Glu32Asp) | |
1 | g.21561168A>C | CA338878097 | ALPL | c.253A>C (p.Thr85Pro) n.313A>C c.66+423A>C (n.66+423A>C) c.88A>C (p.Thr30Pro) c.97A>C (p.Thr33Pro) | |
1 | g.21561168A>G | CA338878098 | ALPL | c.253A>G (p.Thr85Ala) n.313A>G c.66+423A>G (n.66+423A>G) c.88A>G (p.Thr30Ala) c.97A>G (p.Thr33Ala) | |
1 | g.21561168A>T | CA338878100 | ALPL | c.253A>T (p.Thr85Ser) n.313A>T c.66+423A>T (n.66+423A>T) c.88A>T (p.Thr30Ser) c.97A>T (p.Thr33Ser) | |
1 | g.21561169C>A | CA338878107 | ALPL | c.254C>A (p.Thr85Asn) n.314C>A c.66+424C>A (n.66+424C>A) c.89C>A (p.Thr30Asn) c.98C>A (p.Thr33Asn) | gnomAD v4 |
1 | g.21561169C>G | CA338878105 | ALPL | c.254C>G (p.Thr85Ser) n.314C>G c.66+424C>G (n.66+424C>G) c.89C>G (p.Thr30Ser) c.98C>G (p.Thr33Ser) | |
1 | g.21561169C>T | CA338878103 | ALPL | c.254C>T (p.Thr85Ile) n.314C>T c.66+424C>T (n.66+424C>T) c.89C>T (p.Thr30Ile) c.98C>T (p.Thr33Ile) | gnomAD v4 |
1 | g.21561170C>A | CA416534128 | ALPL | c.255C>A (p.Thr85=) n.315C>A c.66+425C>A (n.66+425C>A) c.90C>A (p.Thr30=) c.99C>A (p.Thr33=) | |
1 | g.21561170C>G | CA416534127 | ALPL | c.255C>G (p.Thr85=) n.315C>G c.66+425C>G (n.66+425C>G) c.90C>G (p.Thr30=) c.99C>G (p.Thr33=) | |
1 | g.21561170C>T | CA416534129 | ALPL | c.255C>T (p.Thr85=) n.315C>T c.66+425C>T (n.66+425C>T) c.90C>T (p.Thr30=) c.99C>T (p.Thr33=) | |
1 | g.21561171A>C | CA416534130 | ALPL | c.256A>C (p.Arg86=) n.316A>C c.66+426A>C (n.66+426A>C) c.91A>C (p.Arg31=) c.100A>C (p.Arg34=) | |
1 | g.21561171A>G | CA338878109 | ALPL | c.256A>G (p.Arg86Gly) n.316A>G c.66+426A>G (n.66+426A>G) c.91A>G (p.Arg31Gly) c.100A>G (p.Arg34Gly) | |
1 | g.21561171A>T | CA338878110 | ALPL | c.256A>T (p.Arg86Trp) n.316A>T c.66+426A>T (n.66+426A>T) c.91A>T (p.Arg31Trp) c.100A>T (p.Arg34Trp) | |
1 | g.21561172G>A | CA338878111 | ALPL | c.257G>A (p.Arg86Lys) n.317G>A c.66+427G>A (n.66+427G>A) c.92G>A (p.Arg31Lys) c.101G>A (p.Arg34Lys) | |
1 | g.21561172G>C | CA338878113 | ALPL | c.257G>C (p.Arg86Thr) n.317G>C c.66+427G>C (n.66+427G>C) c.92G>C (p.Arg31Thr) c.101G>C (p.Arg34Thr) | |
1 | g.21561172G>T | CA338878115 | ALPL | c.257G>T (p.Arg86Met) n.317G>T c.66+427G>T (n.66+427G>T) c.92G>T (p.Arg31Met) c.101G>T (p.Arg34Met) | |
1 | g.21561173G>A | CA19088500 | ALPL | c.258G>A (p.Arg86=) n.318G>A c.66+428G>A (n.66+428G>A) c.93G>A (p.Arg31=) c.102G>A (p.Arg34=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561173G>C | CA338878117 | ALPL | c.258G>C (p.Arg86Ser) n.318G>C c.66+428G>C (n.66+428G>C) c.93G>C (p.Arg31Ser) c.102G>C (p.Arg34Ser) | |
1 | g.21561173G= | CA1158013248 | ALPL | c.258G= (p.Arg86=) n.318G= c.66+428G= (n.66+428G=) c.93G= (p.Arg31=) c.102G= (p.Arg34=) | |
1 | g.21561173G>T | CA338878118 | ALPL | c.258G>T (p.Arg86Ser) n.318G>T c.66+428G>T (n.66+428G>T) c.93G>T (p.Arg31Ser) c.102G>T (p.Arg34Ser) | |
1 | g.21561174C>A | CA338878122 | ALPL | c.259C>A (p.Leu87Met) n.319C>A c.66+429C>A (n.66+429C>A) c.94C>A (p.Leu32Met) c.103C>A (p.Leu35Met) | |
1 | g.21561174C= | CA1158013249 | ALPL | c.259C= (p.Leu87=) n.319C= c.66+429C= (n.66+429C=) c.94C= (p.Leu32=) c.103C= (p.Leu35=) | |
1 | g.21561174C>G | CA338878121 | ALPL | c.259C>G (p.Leu87Val) n.319C>G c.66+429C>G (n.66+429C>G) c.94C>G (p.Leu32Val) c.103C>G (p.Leu35Val) | |
1 | g.21561174C>T | CA666437 | ALPL | c.259C>T (p.Leu87=) n.319C>T c.66+429C>T (n.66+429C>T) c.94C>T (p.Leu32=) c.103C>T (p.Leu35=) | dbSNP ExAC gnomAD v2 |
1 | g.21561175T>A | CA338878123 | ALPL | c.260T>A (p.Leu87Gln) n.320T>A c.66+430T>A (n.66+430T>A) c.95T>A (p.Leu32Gln) c.104T>A (p.Leu35Gln) | |
1 | g.21561175T>C | CA338878124 | ALPL | c.260T>C (p.Leu87Pro) n.320T>C c.66+430T>C (n.66+430T>C) c.95T>C (p.Leu32Pro) c.104T>C (p.Leu35Pro) | |
1 | g.21561175T>G | CA338878125 | ALPL | c.260T>G (p.Leu87Arg) n.320T>G c.66+430T>G (n.66+430T>G) c.95T>G (p.Leu32Arg) c.104T>G (p.Leu35Arg) | |
1 | g.21561176G>A | CA416534131 | ALPL | c.261G>A (p.Leu87=) n.321G>A c.66+431G>A (n.66+431G>A) c.96G>A (p.Leu32=) c.105G>A (p.Leu35=) | |
1 | g.21561176G>C | CA416534132 | ALPL | c.261G>C (p.Leu87=) n.321G>C c.66+431G>C (n.66+431G>C) c.96G>C (p.Leu32=) c.105G>C (p.Leu35=) | |
1 | g.21561176G>T | CA416534133 | ALPL | c.261G>T (p.Leu87=) n.321G>T c.66+431G>T (n.66+431G>T) c.96G>T (p.Leu32=) c.105G>T (p.Leu35=) | |
1 | g.21561177G>A | CA19088503 | ALPL | c.262G>A (p.Glu88Lys) n.322G>A c.66+432G>A (n.66+432G>A) c.97G>A (p.Glu33Lys) c.106G>A (p.Glu36Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.21561177G>C | CA338878127 | ALPL | c.262G>C (p.Glu88Gln) n.322G>C c.66+432G>C (n.66+432G>C) c.97G>C (p.Glu33Gln) c.106G>C (p.Glu36Gln) | |
1 | g.21561177G= | CA1158013250 | ALPL | c.262G= (p.Glu88=) n.322G= c.66+432G= (n.66+432G=) c.97G= (p.Glu33=) c.106G= (p.Glu36=) | |
1 | g.21561177G>T | CA338878128 | ALPL | c.262G>T (p.Glu88Ter) n.322G>T c.66+432G>T (n.66+432G>T) c.97G>T (p.Glu33Ter) c.106G>T (p.Glu36Ter) | |
1 | g.21561178A>C | CA338878130 | ALPL | c.263A>C (p.Glu88Ala) n.323A>C c.66+433A>C (n.66+433A>C) c.98A>C (p.Glu33Ala) c.107A>C (p.Glu36Ala) | |
1 | g.21561178A>G | CA338878133 | ALPL | c.263A>G (p.Glu88Gly) n.323A>G c.66+433A>G (n.66+433A>G) c.98A>G (p.Glu33Gly) c.107A>G (p.Glu36Gly) | |
1 | g.21561178A>T | CA338878131 | ALPL | c.263A>T (p.Glu88Val) n.323A>T c.66+433A>T (n.66+433A>T) c.98A>T (p.Glu33Val) c.107A>T (p.Glu36Val) | gnomAD v4 |
1 | g.21561179G>A | CA666438 | ALPL | c.264G>A (p.Glu88=) n.324G>A c.66+434G>A (n.66+434G>A) c.99G>A (p.Glu33=) c.108G>A (p.Glu36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21561179G>C | CA338878135 | ALPL | c.264G>C (p.Glu88Asp) n.324G>C c.66+434G>C (n.66+434G>C) c.99G>C (p.Glu33Asp) c.108G>C (p.Glu36Asp) | |
1 | g.21561179G= | CA1149131329 | ALPL | c.264G= (p.Glu88=) n.324G= c.66+434G= (n.66+434G=) c.99G= (p.Glu33=) c.108G= (p.Glu36=) | |
1 | g.21561179G>T | CA338878136 | ALPL | c.264G>T (p.Glu88Asp) n.324G>T c.66+434G>T (n.66+434G>T) c.99G>T (p.Glu33Asp) c.108G>T (p.Glu36Asp) | |
1 | g.21561180A>C | CA338878138 | ALPL | c.265A>C (p.Met89Leu) n.325A>C c.66+435A>C (n.66+435A>C) c.100A>C (p.Met34Leu) c.109A>C (p.Met37Leu) | |
1 | g.21561180A>G | CA338878140 | ALPL | c.265A>G (p.Met89Val) n.325A>G c.66+435A>G (n.66+435A>G) c.100A>G (p.Met34Val) c.109A>G (p.Met37Val) | |
1 | g.21561180A>T | CA338878142 | ALPL | c.265A>T (p.Met89Leu) n.325A>T c.66+435A>T (n.66+435A>T) c.100A>T (p.Met34Leu) c.109A>T (p.Met37Leu) | |
1 | g.21561181T>A | CA338878145 | ALPL | c.266T>A (p.Met89Lys) n.326T>A c.66+436T>A (n.66+436T>A) c.101T>A (p.Met34Lys) c.110T>A (p.Met37Lys) | |
1 | g.21561181T>C | CA338878153 | ALPL | c.266T>C (p.Met89Thr) n.326T>C c.66+436T>C (n.66+436T>C) c.101T>C (p.Met34Thr) c.110T>C (p.Met37Thr) | |
1 | g.21561181T>G | CA338878154 | ALPL | c.266T>G (p.Met89Arg) n.326T>G c.66+436T>G (n.66+436T>G) c.101T>G (p.Met34Arg) c.110T>G (p.Met37Arg) | |
1 | g.21561182G>A | CA666439 | ALPL | c.267G>A (p.Met89Ile) n.327G>A c.66+437G>A (n.66+437G>A) c.102G>A (p.Met34Ile) c.111G>A (p.Met37Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561182G>C | CA338878155 | ALPL | c.267G>C (p.Met89Ile) n.327G>C c.66+437G>C (n.66+437G>C) c.102G>C (p.Met34Ile) c.111G>C (p.Met37Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561182G= | CA1158013251 | ALPL | c.267G= (p.Met89=) n.327G= c.66+437G= (n.66+437G=) c.102G= (p.Met34=) c.111G= (p.Met37=) | |
1 | g.21561182G>T | CA338878157 | ALPL | c.267G>T (p.Met89Ile) n.327G>T c.66+437G>T (n.66+437G>T) c.102G>T (p.Met34Ile) c.111G>T (p.Met37Ile) | dbSNP |
1 | g.21561183G>A | CA338878159 | ALPL | c.268G>A (p.Asp90Asn) n.328G>A c.66+438G>A (n.66+438G>A) c.103G>A (p.Asp35Asn) c.112G>A (p.Asp38Asn) | |
1 | g.21561183G>C | CA338878164 | ALPL | c.268G>C (p.Asp90His) n.328G>C c.66+438G>C (n.66+438G>C) c.103G>C (p.Asp35His) c.112G>C (p.Asp38His) | |
1 | g.21561183G>T | CA338878161 | ALPL | c.268G>T (p.Asp90Tyr) n.328G>T c.66+438G>T (n.66+438G>T) c.103G>T (p.Asp35Tyr) c.112G>T (p.Asp38Tyr) | |
1 | g.21561184A= | CA1158013252 | ALPL | c.269A= (p.Asp90=) n.329A= c.66+439A= (n.66+439A=) c.104A= (p.Asp35=) c.113A= (p.Asp38=) | |
1 | g.21561184A>C | CA338878165 | ALPL | c.269A>C (p.Asp90Ala) n.329A>C c.66+439A>C (n.66+439A>C) c.104A>C (p.Asp35Ala) c.113A>C (p.Asp38Ala) | |
1 | g.21561184A>G | CA338878166 | ALPL | c.269A>G (p.Asp90Gly) n.329A>G c.66+439A>G (n.66+439A>G) c.104A>G (p.Asp35Gly) c.113A>G (p.Asp38Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561184A>T | CA338878167 | ALPL | c.269A>T (p.Asp90Val) n.329A>T c.66+439A>T (n.66+439A>T) c.104A>T (p.Asp35Val) c.113A>T (p.Asp38Val) | |
1 | g.21561185C>A | CA338878169 | ALPL | c.270C>A (p.Asp90Glu) n.330C>A c.66+440C>A (n.66+440C>A) c.105C>A (p.Asp35Glu) c.114C>A (p.Asp38Glu) | |
1 | g.21561185C= | CA1158013253 | ALPL | c.270C= (p.Asp90=) n.330C= c.66+440C= (n.66+440C=) c.105C= (p.Asp35=) c.114C= (p.Asp38=) | |
1 | g.21561185C>G | CA666440 | ALPL | c.270C>G (p.Asp90Glu) n.330C>G c.66+440C>G (n.66+440C>G) c.105C>G (p.Asp35Glu) c.114C>G (p.Asp38Glu) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.21561185C>T | CA416534134 | ALPL | c.270C>T (p.Asp90=) n.330C>T c.66+440C>T (n.66+440C>T) c.105C>T (p.Asp35=) c.114C>T (p.Asp38=) | |
1 | g.21561186A>C | CA338878170 | ALPL | c.271A>C (p.Lys91Gln) n.331A>C c.66+441A>C (n.66+441A>C) c.106A>C (p.Lys36Gln) c.115A>C (p.Lys39Gln) | |
1 | g.21561186A>G | CA338878171 | ALPL | c.271A>G (p.Lys91Glu) n.331A>G c.66+441A>G (n.66+441A>G) c.106A>G (p.Lys36Glu) c.115A>G (p.Lys39Glu) | |
1 | g.21561186A>T | CA338878173 | ALPL | c.271A>T (p.Lys91Ter) n.331A>T c.66+441A>T (n.66+441A>T) c.106A>T (p.Lys36Ter) c.115A>T (p.Lys39Ter) | |
1 | g.21561187A>C | CA338878175 | ALPL | c.272A>C (p.Lys91Thr) n.332A>C c.66+442A>C (n.66+442A>C) c.107A>C (p.Lys36Thr) c.116A>C (p.Lys39Thr) | gnomAD v3 gnomAD v4 |
1 | g.21561187A>G | CA338878177 | ALPL | c.272A>G (p.Lys91Arg) n.332A>G c.66+442A>G (n.66+442A>G) c.107A>G (p.Lys36Arg) c.116A>G (p.Lys39Arg) | |
1 | g.21561187A>T | CA338878179 | ALPL | c.272A>T (p.Lys91Met) n.332A>T c.66+442A>T (n.66+442A>T) c.107A>T (p.Lys36Met) c.116A>T (p.Lys39Met) | |
1 | g.21561188G>A | CA416534135 | ALPL | c.273G>A (p.Lys91=) n.333G>A c.66+443G>A (n.66+443G>A) c.108G>A (p.Lys36=) c.117G>A (p.Lys39=) | |
1 | g.21561188G>C | CA338878180 | ALPL | c.273G>C (p.Lys91Asn) n.333G>C c.66+443G>C (n.66+443G>C) c.108G>C (p.Lys36Asn) c.117G>C (p.Lys39Asn) | |
1 | g.21561188G= | CA1158013254 | ALPL | c.273G= (p.Lys91=) n.333G= c.66+443G= (n.66+443G=) c.108G= (p.Lys36=) c.117G= (p.Lys39=) | |
1 | g.21561188G>T | CA338878182 | ALPL | c.273G>T (p.Lys91Asn) n.333G>T c.66+443G>T (n.66+443G>T) c.108G>T (p.Lys36Asn) c.117G>T (p.Lys39Asn) | dbSNP gnomAD v4 |
1 | g.21561189T>A | CA338878187 | ALPL | c.274T>A (p.Phe92Ile) n.334T>A c.66+444T>A (n.66+444T>A) c.109T>A (p.Phe37Ile) c.118T>A (p.Phe40Ile) | |
1 | g.21561189T>C | CA338878184 | ALPL | c.274T>C (p.Phe92Leu) n.334T>C c.66+444T>C (n.66+444T>C) c.109T>C (p.Phe37Leu) c.118T>C (p.Phe40Leu) | |
1 | g.21561189T>G | CA338878185 | ALPL | c.274T>G (p.Phe92Val) n.334T>G c.66+444T>G (n.66+444T>G) c.109T>G (p.Phe37Val) c.118T>G (p.Phe40Val) | |
1 | g.21561190T>A | CA338878190 | ALPL | c.275T>A (p.Phe92Tyr) n.335T>A c.66+445T>A (n.66+445T>A) c.110T>A (p.Phe37Tyr) c.119T>A (p.Phe40Tyr) | |
1 | g.21561190T>C | CA338878191 | ALPL | c.275T>C (p.Phe92Ser) n.335T>C c.66+445T>C (n.66+445T>C) c.110T>C (p.Phe37Ser) c.119T>C (p.Phe40Ser) | ClinVar |
1 | g.21561190T>G | CA338878194 | ALPL | c.275T>G (p.Phe92Cys) n.335T>G c.66+445T>G (n.66+445T>G) c.110T>G (p.Phe37Cys) c.119T>G (p.Phe40Cys) | |
1 | g.21561191C>A | CA338878197 | ALPL | c.276C>A (p.Phe92Leu) n.336C>A c.66+446C>A (n.66+446C>A) c.111C>A (p.Phe37Leu) c.120C>A (p.Phe40Leu) | |
1 | g.21561191C>G | CA338878198 | ALPL | c.276C>G (p.Phe92Leu) n.336C>G c.66+446C>G (n.66+446C>G) c.111C>G (p.Phe37Leu) c.120C>G (p.Phe40Leu) | |
1 | g.21561191C>T | CA416534136 | ALPL | c.276C>T (p.Phe92=) n.336C>T c.66+446C>T (n.66+446C>T) c.111C>T (p.Phe37=) c.120C>T (p.Phe40=) | gnomAD v4 COSMIC |
1 | g.21561194del | CA2643930018 | ALPL | c.279del (p.Phe94SerfsTer28) n.339del c.66+449del (n.66+449del) c.114del (p.Phe39SerfsTer28) c.123del (p.Phe42SerfsTer28) | gnomAD v4 |
1 | g.21561192C>A | CA338878199 | ALPL | c.277C>A (p.Pro93Thr) n.337C>A c.66+447C>A (n.66+447C>A) c.112C>A (p.Pro38Thr) c.121C>A (p.Pro41Thr) | |
1 | g.21561192C>G | CA338878200 | ALPL | c.277C>G (p.Pro93Ala) n.337C>G c.66+447C>G (n.66+447C>G) c.112C>G (p.Pro38Ala) c.121C>G (p.Pro41Ala) | |
1 | g.21561192C>T | CA338878201 | ALPL | c.277C>T (p.Pro93Ser) n.337C>T c.66+447C>T (n.66+447C>T) c.112C>T (p.Pro38Ser) c.121C>T (p.Pro41Ser) | COSMIC |
1 | g.21561193C>A | CA338878203 | ALPL | c.278C>A (p.Pro93His) n.338C>A c.66+448C>A (n.66+448C>A) c.113C>A (p.Pro38His) c.122C>A (p.Pro41His) | dbSNP |
1 | g.21561193C= | CA1158013255 | ALPL | c.278C= (p.Pro93=) n.338C= c.66+448C= (n.66+448C=) c.113C= (p.Pro38=) c.122C= (p.Pro41=) | |
1 | g.21561193C>G | CA338878205 | ALPL | c.278C>G (p.Pro93Arg) n.338C>G c.66+448C>G (n.66+448C>G) c.113C>G (p.Pro38Arg) c.122C>G (p.Pro41Arg) | |
1 | g.21561193C>T | CA338878206 | ALPL | c.278C>T (p.Pro93Leu) n.338C>T c.66+448C>T (n.66+448C>T) c.113C>T (p.Pro38Leu) c.122C>T (p.Pro41Leu) | ClinVar COSMIC |
1 | g.21561194C>A | CA416534138 | ALPL | c.279C>A (p.Pro93=) n.339C>A c.66+449C>A (n.66+449C>A) c.114C>A (p.Pro38=) c.123C>A (p.Pro41=) | |
1 | g.21561194C= | CA1158013256 | ALPL | c.279C= (p.Pro93=) n.339C= c.66+449C= (n.66+449C=) c.114C= (p.Pro38=) c.123C= (p.Pro41=) | |
1 | g.21561194C>G | CA416534137 | ALPL | c.279C>G (p.Pro93=) n.339C>G c.66+449C>G (n.66+449C>G) c.114C>G (p.Pro38=) c.123C>G (p.Pro41=) | |
1 | g.21561194C>T | CA416534139 | ALPL | c.279C>T (p.Pro93=) n.339C>T c.66+449C>T (n.66+449C>T) c.114C>T (p.Pro38=) c.123C>T (p.Pro41=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561195T>A | CA338878207 | ALPL | c.280T>A (p.Phe94Ile) n.340T>A c.66+450T>A (n.66+450T>A) c.115T>A (p.Phe39Ile) c.124T>A (p.Phe42Ile) | |
1 | g.21561195T>C | CA338878209 | ALPL | c.280T>C (p.Phe94Leu) n.340T>C c.66+450T>C (n.66+450T>C) c.115T>C (p.Phe39Leu) c.124T>C (p.Phe42Leu) | |
1 | g.21561195T>G | CA338878208 | ALPL | c.280T>G (p.Phe94Val) n.340T>G c.66+450T>G (n.66+450T>G) c.115T>G (p.Phe39Val) c.124T>G (p.Phe42Val) | dbSNP gnomAD v2 |
1 | g.21561195T= | CA1158013257 | ALPL | c.280T= (p.Phe94=) n.340T= c.66+450T= (n.66+450T=) c.115T= (p.Phe39=) c.124T= (p.Phe42=) | |
1 | g.21561196T>A | CA338878211 | ALPL | c.281T>A (p.Phe94Tyr) n.341T>A c.66+451T>A (n.66+451T>A) c.116T>A (p.Phe39Tyr) c.125T>A (p.Phe42Tyr) | |
1 | g.21561196T>C | CA338878215 | ALPL | c.281T>C (p.Phe94Ser) n.341T>C c.66+451T>C (n.66+451T>C) c.116T>C (p.Phe39Ser) c.125T>C (p.Phe42Ser) | |
1 | g.21561196T>G | CA338878213 | ALPL | c.281T>G (p.Phe94Cys) n.341T>G c.66+451T>G (n.66+451T>G) c.116T>G (p.Phe39Cys) c.125T>G (p.Phe42Cys) | |
1 | g.21561197C>A | CA338878217 | ALPL | c.282C>A (p.Phe94Leu) n.342C>A c.66+452C>A (n.66+452C>A) c.117C>A (p.Phe39Leu) c.126C>A (p.Phe42Leu) | |
1 | g.21561197C= | CA1148399057 | ALPL | c.282C= (p.Phe94=) n.342C= c.66+452C= (n.66+452C=) c.117C= (p.Phe39=) c.126C= (p.Phe42=) | |
1 | g.21561197C>G | CA338878219 | ALPL | c.282C>G (p.Phe94Leu) n.342C>G c.66+452C>G (n.66+452C>G) c.117C>G (p.Phe39Leu) c.126C>G (p.Phe42Leu) | |
1 | g.21561197C>T | CA666441 | ALPL | c.282C>T (p.Phe94=) n.342C>T c.66+452C>T (n.66+452C>T) c.117C>T (p.Phe39=) c.126C>T (p.Phe42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561198G>A | CA666442 | ALPL | c.283G>A (p.Val95Met) n.343G>A c.66+453G>A (n.66+453G>A) c.118G>A (p.Val40Met) c.127G>A (p.Val43Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561198G>C | CA338878222 | ALPL | c.283G>C (p.Val95Leu) n.343G>C c.66+453G>C (n.66+453G>C) c.118G>C (p.Val40Leu) c.127G>C (p.Val43Leu) | |
1 | g.21561198G= | CA1141703750 | ALPL | c.283G= (p.Val95=) n.343G= c.66+453G= (n.66+453G=) c.118G= (p.Val40=) c.127G= (p.Val43=) | |
1 | g.21561198G>T | CA338878224 | ALPL | c.283G>T (p.Val95Leu) n.343G>T c.66+453G>T (n.66+453G>T) c.118G>T (p.Val40Leu) c.127G>T (p.Val43Leu) | |
1 | g.21561199T>A | CA338878225 | ALPL | c.284T>A (p.Val95Glu) n.344T>A c.66+454T>A (n.66+454T>A) c.119T>A (p.Val40Glu) c.128T>A (p.Val43Glu) | ClinVar dbSNP |
1 | g.21561199T>C | CA338878226 | ALPL | c.284T>C (p.Val95Ala) n.344T>C c.66+454T>C (n.66+454T>C) c.119T>C (p.Val40Ala) c.128T>C (p.Val43Ala) | |
1 | g.21561199T>G | CA338878227 | ALPL | c.284T>G (p.Val95Gly) n.344T>G c.66+454T>G (n.66+454T>G) c.119T>G (p.Val40Gly) c.128T>G (p.Val43Gly) | gnomAD v4 |
1 | g.21561200G>A | CA416534141 | ALPL | c.285G>A (p.Val95=) n.345G>A c.66+455G>A (n.66+455G>A) c.120G>A (p.Val40=) c.129G>A (p.Val43=) | |
1 | g.21561200G>C | CA416534143 | ALPL | c.285G>C (p.Val95=) n.345G>C c.66+455G>C (n.66+455G>C) c.120G>C (p.Val40=) c.129G>C (p.Val43=) | |
1 | g.21561200G>T | CA416534142 | ALPL | c.285G>T (p.Val95=) n.345G>T c.66+455G>T (n.66+455G>T) c.120G>T (p.Val40=) c.129G>T (p.Val43=) | |
1 | g.21561201G>A | CA338878230 | ALPL | c.286G>A (p.Ala96Thr) n.346G>A c.66+456G>A (n.66+456G>A) c.121G>A (p.Ala41Thr) c.130G>A (p.Ala44Thr) | gnomAD v4 |
1 | g.21561201G>C | CA338878231 | ALPL | c.286G>C (p.Ala96Pro) n.346G>C c.66+456G>C (n.66+456G>C) c.121G>C (p.Ala41Pro) c.130G>C (p.Ala44Pro) | ClinVar |
1 | g.21561201G>T | CA338878233 | ALPL | c.286G>T (p.Ala96Ser) n.346G>T c.66+456G>T (n.66+456G>T) c.121G>T (p.Ala41Ser) c.130G>T (p.Ala44Ser) | |
1 | g.21561202C>A | CA338878235 | ALPL | c.287C>A (p.Ala96Asp) n.347C>A c.66+457C>A (n.66+457C>A) c.122C>A (p.Ala41Asp) c.131C>A (p.Ala44Asp) | gnomAD v4 |
1 | g.21561202C>G | CA338878237 | ALPL | c.287C>G (p.Ala96Gly) n.347C>G c.66+457C>G (n.66+457C>G) c.122C>G (p.Ala41Gly) c.131C>G (p.Ala44Gly) | |
1 | g.21561202C>T | CA338878236 | ALPL | c.287C>T (p.Ala96Val) n.347C>T c.66+457C>T (n.66+457C>T) c.122C>T (p.Ala41Val) c.131C>T (p.Ala44Val) | gnomAD v4 COSMIC |
1 | g.21561203C>A | CA416534144 | ALPL | c.288C>A (p.Ala96=) n.348C>A c.66+458C>A (n.66+458C>A) c.123C>A (p.Ala41=) c.132C>A (p.Ala44=) | gnomAD v4 |
1 | g.21561203C= | CA1158013258 | ALPL | c.288C= (p.Ala96=) n.348C= c.66+458C= (n.66+458C=) c.123C= (p.Ala41=) c.132C= (p.Ala44=) | |
1 | g.21561203C>G | CA416534146 | ALPL | c.288C>G (p.Ala96=) n.348C>G c.66+458C>G (n.66+458C>G) c.123C>G (p.Ala41=) c.132C>G (p.Ala44=) | |
1 | g.21561203C>T | CA416534145 | ALPL | c.288C>T (p.Ala96=) n.348C>T c.66+458C>T (n.66+458C>T) c.123C>T (p.Ala41=) c.132C>T (p.Ala44=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561204C>A | CA338878241 | ALPL | c.289C>A (p.Leu97Ile) n.349C>A c.66+459C>A (n.66+459C>A) c.124C>A (p.Leu42Ile) c.133C>A (p.Leu45Ile) | ClinVar |
1 | g.21561204C>G | CA338878243 | ALPL | c.289C>G (p.Leu97Val) n.349C>G c.66+459C>G (n.66+459C>G) c.124C>G (p.Leu42Val) c.133C>G (p.Leu45Val) | |
1 | g.21561204C>T | CA338878244 | ALPL | c.289C>T (p.Leu97Phe) n.349C>T c.66+459C>T (n.66+459C>T) c.124C>T (p.Leu42Phe) c.133C>T (p.Leu45Phe) | |
1 | g.21561205T>A | CA338878245 | ALPL | c.290T>A (p.Leu97His) n.350T>A c.66+460T>A (n.66+460T>A) c.125T>A (p.Leu42His) c.134T>A (p.Leu45His) | |
1 | g.21561205T>C | CA338878246 | ALPL | c.290T>C (p.Leu97Pro) n.350T>C c.66+460T>C (n.66+460T>C) c.125T>C (p.Leu42Pro) c.134T>C (p.Leu45Pro) | |
1 | g.21561205T>G | CA338878248 | ALPL | c.290T>G (p.Leu97Arg) n.350T>G c.66+460T>G (n.66+460T>G) c.125T>G (p.Leu42Arg) c.134T>G (p.Leu45Arg) | |
1 | g.21561206C>A | CA416534147 | ALPL | c.291C>A (p.Leu97=) n.351C>A c.66+461C>A (n.66+461C>A) c.126C>A (p.Leu42=) c.135C>A (p.Leu45=) | |
1 | g.21561206C= | CA1158013259 | ALPL | c.291C= (p.Leu97=) n.351C= c.66+461C= (n.66+461C=) c.126C= (p.Leu42=) c.135C= (p.Leu45=) | |
1 | g.21561206C>G | CA416534148 | ALPL | c.291C>G (p.Leu97=) n.351C>G c.66+461C>G (n.66+461C>G) c.126C>G (p.Leu42=) c.135C>G (p.Leu45=) | |
1 | g.21561206C>T | CA416534149 | ALPL | c.291C>T (p.Leu97=) n.351C>T c.66+461C>T (n.66+461C>T) c.126C>T (p.Leu42=) c.135C>T (p.Leu45=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.21561207T>A | CA338878250 | ALPL | c.292T>A (p.Ser98Thr) n.352T>A c.66+462T>A (n.66+462T>A) c.127T>A (p.Ser43Thr) c.136T>A (p.Ser46Thr) | |
1 | g.21561207T>C | CA338878252 | ALPL | c.292T>C (p.Ser98Pro) n.352T>C c.66+462T>C (n.66+462T>C) c.127T>C (p.Ser43Pro) c.136T>C (p.Ser46Pro) | |
1 | g.21561207T>G | CA338878254 | ALPL | c.292T>G (p.Ser98Ala) n.352T>G c.66+462T>G (n.66+462T>G) c.127T>G (p.Ser43Ala) c.136T>G (p.Ser46Ala) | |
1 | g.21561208C>A | CA338878257 | ALPL | c.293C>A (p.Ser98Tyr) n.353C>A c.66+463C>A (n.66+463C>A) c.128C>A (p.Ser43Tyr) c.137C>A (p.Ser46Tyr) | |
1 | g.21561208C>G | CA338878262 | ALPL | c.293C>G (p.Ser98Cys) n.353C>G c.66+463C>G (n.66+463C>G) c.128C>G (p.Ser43Cys) c.137C>G (p.Ser46Cys) | |
1 | g.21561208C>T | CA338878256 | ALPL | c.293C>T (p.Ser98Phe) n.353C>T c.66+463C>T (n.66+463C>T) c.128C>T (p.Ser43Phe) c.137C>T (p.Ser46Phe) | ClinVar |
1 | g.21561209C>A | CA416534151 | ALPL | c.294C>A (p.Ser98=) n.354C>A c.66+464C>A (n.66+464C>A) c.129C>A (p.Ser43=) c.138C>A (p.Ser46=) | |
1 | g.21561209C>G | CA416534152 | ALPL | c.294C>G (p.Ser98=) n.354C>G c.66+464C>G (n.66+464C>G) c.129C>G (p.Ser43=) c.138C>G (p.Ser46=) | |
1 | g.21561209C>T | CA416534150 | ALPL | c.294C>T (p.Ser98=) n.354C>T c.66+464C>T (n.66+464C>T) c.129C>T (p.Ser43=) c.138C>T (p.Ser46=) | COSMIC |
1 | g.21561210A>C | CA338878270 | ALPL | c.295A>C (p.Lys99Gln) n.355A>C c.66+465A>C (n.66+465A>C) c.130A>C (p.Lys44Gln) c.139A>C (p.Lys47Gln) | dbSNP |
1 | g.21561210A>G | CA338878271 | ALPL | c.295A>G (p.Lys99Glu) n.355A>G c.66+465A>G (n.66+465A>G) c.130A>G (p.Lys44Glu) c.139A>G (p.Lys47Glu) | ClinVar gnomAD v4 |
1 | g.21561210A>T | CA338878273 | ALPL | c.295A>T (p.Lys99Ter) n.355A>T c.66+465A>T (n.66+465A>T) c.130A>T (p.Lys44Ter) c.139A>T (p.Lys47Ter) | |
1 | g.21561211A= | CA1158013260 | ALPL | c.296A= (p.Lys99=) n.356A= c.66+466A= (n.66+466A=) c.131A= (p.Lys44=) c.140A= (p.Lys47=) | |
1 | g.21561211A>C | CA338878276 | ALPL | c.296A>C (p.Lys99Thr) n.356A>C c.66+466A>C (n.66+466A>C) c.131A>C (p.Lys44Thr) c.140A>C (p.Lys47Thr) | dbSNP |
1 | g.21561211A>G | CA338878278 | ALPL | c.296A>G (p.Lys99Arg) n.356A>G c.66+466A>G (n.66+466A>G) c.131A>G (p.Lys44Arg) c.140A>G (p.Lys47Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561211A>T | CA338878280 | ALPL | c.296A>T (p.Lys99Met) n.356A>T c.66+466A>T (n.66+466A>T) c.131A>T (p.Lys44Met) c.140A>T (p.Lys47Met) | |
1 | g.21561212G>A | CA416534153 | ALPL | c.297G>A (p.Lys99=) n.357G>A c.66+467G>A (n.66+467G>A) c.132G>A (p.Lys44=) c.141G>A (p.Lys47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561212G>C | CA338878283 | ALPL | c.297G>C (p.Lys99Asn) n.357G>C c.66+467G>C (n.66+467G>C) c.132G>C (p.Lys44Asn) c.141G>C (p.Lys47Asn) | |
1 | g.21561212G= | CA1158013261 | ALPL | c.297G= (p.Lys99=) n.357G= c.66+467G= (n.66+467G=) c.132G= (p.Lys44=) c.141G= (p.Lys47=) | |
1 | g.21561212G>T | CA338878287 | ALPL | c.297G>T (p.Lys99Asn) n.357G>T c.66+467G>T (n.66+467G>T) c.132G>T (p.Lys44Asn) c.141G>T (p.Lys47Asn) | |
1 | g.21561213G>A | CA338878290 | ALPL | c.297+1G>A (n.297+1G>A) n.357+1G>A c.66+468G>A (n.66+468G>A) c.132+1G>A (n.132+1G>A) c.141+1G>A (n.141+1G>A) | dbSNP gnomAD v2 |
1 | g.21561213G>C | CA338878292 | ALPL | c.297+1G>C (n.297+1G>C) n.357+1G>C c.66+468G>C (n.66+468G>C) c.132+1G>C (n.132+1G>C) c.141+1G>C (n.141+1G>C) | |
1 | g.21561213G= | CA1158013262 | ALPL | c.297+1G= (n.297+1G=) n.357+1G= c.66+468G= (n.66+468G=) c.132+1G= (n.132+1G=) c.141+1G= (n.141+1G=) | |
1 | g.21561213G>T | CA338878294 | ALPL | c.297+1G>T (n.297+1G>T) n.357+1G>T c.66+468G>T (n.66+468G>T) c.132+1G>T (n.132+1G>T) c.141+1G>T (n.141+1G>T) | gnomAD v4 |
1 | g.21561214T>A | CA16040715 | ALPL | c.297+2T>A (n.297+2T>A) n.357+2T>A c.66+469T>A (n.66+469T>A) c.132+2T>A (n.132+2T>A) c.141+2T>A (n.141+2T>A) | ClinVar dbSNP |
1 | g.21561214T>C | CA338878297 | ALPL | c.297+2T>C (n.297+2T>C) n.357+2T>C c.66+469T>C (n.66+469T>C) c.132+2T>C (n.132+2T>C) c.141+2T>C (n.141+2T>C) | |
1 | g.21561214T>G | CA338878300 | ALPL | c.297+2T>G (n.297+2T>G) n.357+2T>G c.66+469T>G (n.66+469T>G) c.132+2T>G (n.132+2T>G) c.141+2T>G (n.141+2T>G) | |
1 | g.21561214T= | CA1158013264 | ALPL | c.297+2T= (n.297+2T=) n.357+2T= c.66+469T= (n.66+469T=) c.132+2T= (n.132+2T=) c.141+2T= (n.141+2T=) | |
1 | g.21561214dup | CA1158013263 | ALPL | c.297+2dup (n.297+2dup) n.357+2dup c.66+469dup (n.66+469dup) c.132+2dup (n.132+2dup) c.141+2dup (n.141+2dup) | dbSNP |
1 | g.21561215G>A | CA19088544 | ALPL | c.297+3G>A (n.297+3G>A) n.357+3G>A c.66+470G>A (n.66+470G>A) c.132+3G>A (n.132+3G>A) c.141+3G>A (n.141+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561215G= | CA1158013265 | ALPL | c.297+3G= (n.297+3G=) n.357+3G= c.66+470G= (n.66+470G=) c.132+3G= (n.132+3G=) c.141+3G= (n.141+3G=) | |
1 | g.21561215G>T | CA2586966219 | ALPL | c.297+3G>T (n.297+3G>T) n.357+3G>T c.66+470G>T (n.66+470G>T) c.132+3G>T (n.132+3G>T) c.141+3G>T (n.141+3G>T) | |
1 | g.21561217G>A | CA666443 | ALPL | c.297+5G>A (n.297+5G>A) n.357+5G>A c.66+472G>A (n.66+472G>A) c.132+5G>A (n.132+5G>A) c.141+5G>A (n.141+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21561217G>C | CA2643930019 | ALPL | c.297+5G>C (n.297+5G>C) n.357+5G>C c.66+472G>C (n.66+472G>C) c.132+5G>C (n.132+5G>C) c.141+5G>C (n.141+5G>C) | gnomAD v4 |
1 | g.21561217G= | CA1158013266 | ALPL | c.297+5G= (n.297+5G=) n.357+5G= c.66+472G= (n.66+472G=) c.132+5G= (n.132+5G=) c.141+5G= (n.141+5G=) | |
1 | g.21561217G>T | CA521577178 | ALPL | c.297+5G>T (n.297+5G>T) n.357+5G>T c.66+472G>T (n.66+472G>T) c.132+5G>T (n.132+5G>T) c.141+5G>T (n.141+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21561218C>A | CA2643930020 | ALPL | c.297+6C>A (n.297+6C>A) n.357+6C>A c.66+473C>A (n.66+473C>A) c.132+6C>A (n.132+6C>A) c.141+6C>A (n.141+6C>A) | gnomAD v4 |
1 | g.21561218C= | CA1158013267 | ALPL | c.297+6C= (n.297+6C=) n.357+6C= c.66+473C= (n.66+473C=) c.132+6C= (n.132+6C=) c.141+6C= (n.141+6C=) | |
1 | g.21561218C>T | CA666444 | ALPL | c.297+6C>T (n.297+6C>T) n.357+6C>T c.66+473C>T (n.66+473C>T) c.132+6C>T (n.132+6C>T) c.141+6C>T (n.141+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561219C>A | CA2643930022 | ALPL | c.297+7C>A (n.297+7C>A) n.357+7C>A c.66+474C>A (n.66+474C>A) c.132+7C>A (n.132+7C>A) c.141+7C>A (n.141+7C>A) | gnomAD v4 |
1 | g.21561219C= | CA1144108856 | ALPL | c.297+7C= (n.297+7C=) n.357+7C= c.66+474C= (n.66+474C=) c.132+7C= (n.132+7C=) c.141+7C= (n.141+7C=) | |
1 | g.21561219C>G | CA2643930021 | ALPL | c.297+7C>G (n.297+7C>G) n.357+7C>G c.66+474C>G (n.66+474C>G) c.132+7C>G (n.132+7C>G) c.141+7C>G (n.141+7C>G) | ClinVar gnomAD v4 |
1 | g.21561219C>T | CA666445 | ALPL | c.297+7C>T (n.297+7C>T) n.357+7C>T c.66+474C>T (n.66+474C>T) c.132+7C>T (n.132+7C>T) c.141+7C>T (n.141+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21561220C>A | CA2643930023 | ALPL | c.297+8C>A (n.297+8C>A) n.357+8C>A c.66+475C>A (n.66+475C>A) c.132+8C>A (n.132+8C>A) c.141+8C>A (n.141+8C>A) | gnomAD v4 |
1 | g.21561221C>A | CA666447 | ALPL | c.297+9C>A (n.297+9C>A) n.357+9C>A c.66+476C>A (n.66+476C>A) c.132+9C>A (n.132+9C>A) c.141+9C>A (n.141+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21561221C= | CA1158013268 | ALPL | c.297+9C= (n.297+9C=) n.357+9C= c.66+476C= (n.66+476C=) c.132+9C= (n.132+9C=) c.141+9C= (n.141+9C=) | |
1 | g.21561221C>T | CA666446 | ALPL | c.297+9C>T (n.297+9C>T) n.357+9C>T c.66+476C>T (n.66+476C>T) c.132+9C>T (n.132+9C>T) c.141+9C>T (n.141+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21561222A>G | CA2742768271 | ALPL | c.297+10A>G (n.297+10A>G) n.357+10A>G c.66+477A>G (n.66+477A>G) c.132+10A>G (n.132+10A>G) c.141+10A>G (n.141+10A>G) | |
1 | g.21561224C>A | CA2643930024 | ALPL | c.297+12C>A (n.297+12C>A) n.357+12C>A c.66+479C>A (n.66+479C>A) c.132+12C>A (n.132+12C>A) c.141+12C>A (n.141+12C>A) | gnomAD v4 |
1 | g.21561225C>A | CA2643930025 | ALPL | c.297+13C>A (n.297+13C>A) n.357+13C>A c.66+480C>A (n.66+480C>A) c.132+13C>A (n.132+13C>A) c.141+13C>A (n.141+13C>A) | gnomAD v4 |
1 | g.21561225C= | CA1158013269 | ALPL | c.297+13C= (n.297+13C=) n.357+13C= c.66+480C= (n.66+480C=) c.132+13C= (n.132+13C=) c.141+13C= (n.141+13C=) | |
1 | g.21561225C>T | CA666448 | ALPL | c.297+13C>T (n.297+13C>T) n.357+13C>T c.66+480C>T (n.66+480C>T) c.132+13C>T (n.132+13C>T) c.141+13C>T (n.141+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |