Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21573518_21573686del | CA2580061452 | ALPL | c.863-147_884del c.73-2215_73-2047del c.632-147_653del c.698-147_719del c.707-147_728del | ClinVar |
1 | g.21573612_21573670del | CA2594140248 | ALPL | c.863-53_868del c.73-2121_73-2063del c.632-53_637del c.698-53_703del c.707-53_712del | gnomAD v3 gnomAD v4 |
1 | g.21573628_21573630delinsCCT | CA1158018299 | ALPL | c.863-37_863-35delinsCCT (n.863-37_863-35delinsCCT) c.73-2105_73-2103delinsCCT c.632-37_632-35delinsCCT (n.632-37_632-35delinsCCT) c.698-37_698-35delinsCCT (n.698-37_698-35delinsCCT) c.707-37_707-35delinsCCT (n.707-37_707-35delinsCCT) | |
1 | g.21573629C= | CA1158018300 | ALPL | c.863-36C= (n.863-36C=) c.73-2104C= c.632-36C= (n.632-36C=) c.698-36C= (n.698-36C=) c.707-36C= (n.707-36C=) | |
1 | g.21573629C>G | CA731322506 | ALPL | c.863-36C>G (n.863-36C>G) c.73-2104C>G c.632-36C>G (n.632-36C>G) c.698-36C>G (n.698-36C>G) c.707-36C>G (n.707-36C>G) | dbSNP |
1 | g.21573629C>T | CA666656 | ALPL | c.863-36C>T (n.863-36C>T) c.73-2104C>T c.632-36C>T (n.632-36C>T) c.698-36C>T (n.698-36C>T) c.707-36C>T (n.707-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573632_21573633del | CA666655 | ALPL | c.863-33_863-32del (n.863-33_863-32del) c.73-2101_73-2100del c.632-33_632-32del (n.632-33_632-32del) c.698-33_698-32del (n.698-33_698-32del) c.707-33_707-32del (n.707-33_707-32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573630T>C | CA2643930953 | ALPL | c.863-35T>C (n.863-35T>C) c.73-2103T>C c.632-35T>C (n.632-35T>C) c.698-35T>C (n.698-35T>C) c.707-35T>C (n.707-35T>C) | gnomAD v4 |
1 | g.21573631C>A | CA19067931 | ALPL | c.863-34C>A (n.863-34C>A) c.73-2102C>A c.632-34C>A (n.632-34C>A) c.698-34C>A (n.698-34C>A) c.707-34C>A (n.707-34C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573631C= | CA1143441236 | ALPL | c.863-34C= (n.863-34C=) c.73-2102C= c.632-34C= (n.632-34C=) c.698-34C= (n.698-34C=) c.707-34C= (n.707-34C=) | |
1 | g.21573631C>G | CA521577860 | ALPL | c.863-34C>G (n.863-34C>G) c.73-2102C>G c.632-34C>G (n.632-34C>G) c.698-34C>G (n.698-34C>G) c.707-34C>G (n.707-34C>G) | dbSNP gnomAD v2 |
1 | g.21573631C>T | CA1158018301 | ALPL | c.863-34C>T (n.863-34C>T) c.73-2102C>T c.632-34C>T (n.632-34C>T) c.698-34C>T (n.698-34C>T) c.707-34C>T (n.707-34C>T) | dbSNP |
1 | g.21573633C>A | CA2501398492 | ALPL | c.863-32C>A (n.863-32C>A) c.73-2100C>A c.632-32C>A (n.632-32C>A) c.698-32C>A (n.698-32C>A) c.707-32C>A (n.707-32C>A) | |
1 | g.21573635G>A | CA731322510 | ALPL | c.863-30G>A (n.863-30G>A) c.73-2098G>A c.632-30G>A (n.632-30G>A) c.698-30G>A (n.698-30G>A) c.707-30G>A (n.707-30G>A) | dbSNP |
1 | g.21573635G>C | CA1158018303 | ALPL | c.863-30G>C (n.863-30G>C) c.73-2098G>C c.632-30G>C (n.632-30G>C) c.698-30G>C (n.698-30G>C) c.707-30G>C (n.707-30G>C) | dbSNP |
1 | g.21573635G= | CA1158018302 | ALPL | c.863-30G= (n.863-30G=) c.73-2098G= c.632-30G= (n.632-30G=) c.698-30G= (n.698-30G=) c.707-30G= (n.707-30G=) | |
1 | g.21573637A>C | CA2643930954 | ALPL | c.863-28A>C (n.863-28A>C) c.73-2096A>C c.632-28A>C (n.632-28A>C) c.698-28A>C (n.698-28A>C) c.707-28A>C (n.707-28A>C) | gnomAD v4 |
1 | g.21573638T>A | CA2643930955 | ALPL | c.863-27T>A (n.863-27T>A) c.73-2095T>A c.632-27T>A (n.632-27T>A) c.698-27T>A (n.698-27T>A) c.707-27T>A (n.707-27T>A) | gnomAD v4 |
1 | g.21573640C>G | CA2643930956 | ALPL | c.863-25C>G (n.863-25C>G) c.73-2093C>G c.632-25C>G (n.632-25C>G) c.698-25C>G (n.698-25C>G) c.707-25C>G (n.707-25C>G) | gnomAD v4 |
1 | g.21573640C>T | CA2643930957 | ALPL | c.863-25C>T (n.863-25C>T) c.73-2093C>T c.632-25C>T (n.632-25C>T) c.698-25C>T (n.698-25C>T) c.707-25C>T (n.707-25C>T) | gnomAD v4 |
1 | g.21573641A>G | CA2841021462 | ALPL | c.863-24A>G (n.863-24A>G) c.73-2092A>G c.632-24A>G (n.632-24A>G) c.698-24A>G (n.698-24A>G) c.707-24A>G (n.707-24A>G) | |
1 | g.21573642C>T | CA2742754132 | ALPL | c.863-23C>T (n.863-23C>T) c.73-2091C>T c.632-23C>T (n.632-23C>T) c.698-23C>T (n.698-23C>T) c.707-23C>T (n.707-23C>T) | |
1 | g.21573643_21573653del | CA2740090515 | ALPL | c.863-22_863-12del (n.863-22_863-12del) c.73-2090_73-2080del c.632-22_632-12del (n.632-22_632-12del) c.698-22_698-12del (n.698-22_698-12del) c.707-22_707-12del (n.707-22_707-12del) | ClinVar |
1 | g.21573643A= | CA1158018304 | ALPL | c.863-22A= (n.863-22A=) c.73-2090A= c.632-22A= (n.632-22A=) c.698-22A= (n.698-22A=) c.707-22A= (n.707-22A=) | |
1 | g.21573643A>G | CA521577929 | ALPL | c.863-22A>G (n.863-22A>G) c.73-2090A>G c.632-22A>G (n.632-22A>G) c.698-22A>G (n.698-22A>G) c.707-22A>G (n.707-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573645C>A | CA2643930958 | ALPL | c.863-20C>A (n.863-20C>A) c.73-2088C>A c.632-20C>A (n.632-20C>A) c.698-20C>A (n.698-20C>A) c.707-20C>A (n.707-20C>A) | gnomAD v4 |
1 | g.21573645C= | CA1143626712 | ALPL | c.863-20C= (n.863-20C=) c.73-2088C= c.632-20C= (n.632-20C=) c.698-20C= (n.698-20C=) c.707-20C= (n.707-20C=) | |
1 | g.21573645C>T | CA666657 | ALPL | c.863-20C>T (n.863-20C>T) c.73-2088C>T c.632-20C>T (n.632-20C>T) c.698-20C>T (n.698-20C>T) c.707-20C>T (n.707-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573646C= | CA1144192802 | ALPL | c.863-19C= (n.863-19C=) c.73-2087C= c.632-19C= (n.632-19C=) c.698-19C= (n.698-19C=) c.707-19C= (n.707-19C=) | |
1 | g.21573646C>T | CA666658 | ALPL | c.863-19C>T (n.863-19C>T) c.73-2087C>T c.632-19C>T (n.632-19C>T) c.698-19C>T (n.698-19C>T) c.707-19C>T (n.707-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573648C>T | CA2739272346 | ALPL | c.863-17C>T (n.863-17C>T) c.73-2085C>T c.632-17C>T (n.632-17C>T) c.698-17C>T (n.698-17C>T) c.707-17C>T (n.707-17C>T) | ClinVar |
1 | g.21573650T>A | CA10586723 | ALPL | c.863-15T>A (n.863-15T>A) c.73-2083T>A c.632-15T>A (n.632-15T>A) c.698-15T>A (n.698-15T>A) c.707-15T>A (n.707-15T>A) | ClinVar dbSNP |
1 | g.21573650T>C | CA19067939 | ALPL | c.863-15T>C (n.863-15T>C) c.73-2083T>C c.632-15T>C (n.632-15T>C) c.698-15T>C (n.698-15T>C) c.707-15T>C (n.707-15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573650T= | CA1143963639 | ALPL | c.863-15T= (n.863-15T=) c.73-2083T= c.632-15T= (n.632-15T=) c.698-15T= (n.698-15T=) c.707-15T= (n.707-15T=) | |
1 | g.21573652dup | CA2841021463 | ALPL | c.863-13dup (n.863-13dup) c.73-2081dup c.632-13dup (n.632-13dup) c.698-13dup (n.698-13dup) c.707-13dup (n.707-13dup) | |
1 | g.21573652G>A | CA2574252888 | ALPL | c.863-13G>A (n.863-13G>A) c.73-2081G>A c.632-13G>A (n.632-13G>A) c.698-13G>A (n.698-13G>A) c.707-13G>A (n.707-13G>A) | |
1 | g.21573652G= | CA1158018305 | ALPL | c.863-13G= (n.863-13G=) c.73-2081G= c.632-13G= (n.632-13G=) c.698-13G= (n.698-13G=) c.707-13G= (n.707-13G=) | |
1 | g.21573652G>T | CA666659 | ALPL | c.863-13G>T (n.863-13G>T) c.73-2081G>T c.632-13G>T (n.632-13G>T) c.698-13G>T (n.698-13G>T) c.707-13G>T (n.707-13G>T) | dbSNP ExAC |
1 | g.21573652_21573653insGGT | CA999409671 | ALPL | c.863-13_863-12insGGT (n.863-13_863-12insGGT) c.73-2081_73-2080insGGT c.632-13_632-12insGGT (n.632-13_632-12insGGT) c.698-13_698-12insGGT (n.698-13_698-12insGGT) c.707-13_707-12insGGT (n.707-13_707-12insGGT) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573652_21573653insGGTCCCC | CA1158018306 | ALPL | c.863-13_863-12insGGTCCCC (n.863-13_863-12insGGTCCCC) c.73-2081_73-2080insGGTCCCC c.632-13_632-12insGGTCCCC (n.632-13_632-12insGGTCCCC) c.698-13_698-12insGGTCCCC (n.698-13_698-12insGGTCCCC) c.707-13_707-12insGGTCCCC (n.707-13_707-12insGGTCCCC) | ClinVar dbSNP |
1 | g.21573653C>A | CA2581649601 | ALPL | c.863-12C>A (n.863-12C>A) c.73-2080C>A c.632-12C>A (n.632-12C>A) c.698-12C>A (n.698-12C>A) c.707-12C>A (n.707-12C>A) | gnomAD v4 |
1 | g.21573653C= | CA1140961937 | ALPL | c.863-12C= (n.863-12C=) c.73-2080C= c.632-12C= (n.632-12C=) c.698-12C= (n.698-12C=) c.707-12C= (n.707-12C=) | |
1 | g.21573653C>G | CA666660 | ALPL | c.863-12C>G (n.863-12C>G) c.73-2080C>G c.632-12C>G (n.632-12C>G) c.698-12C>G (n.698-12C>G) c.707-12C>G (n.707-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573653C>T | CA521577930 | ALPL | c.863-12C>T (n.863-12C>T) c.73-2080C>T c.632-12C>T (n.632-12C>T) c.698-12C>T (n.698-12C>T) c.707-12C>T (n.707-12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573653_21573654insCCCG | CA999409684 | ALPL | c.863-12_863-11insCCCG (n.863-12_863-11insCCCG) c.73-2080_73-2079insCCCG c.632-12_632-11insCCCG (n.632-12_632-11insCCCG) c.698-12_698-11insCCCG (n.698-12_698-11insCCCG) c.707-12_707-11insCCCG (n.707-12_707-11insCCCG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573654G>A | CA666661 | ALPL | c.863-11G>A (n.863-11G>A) c.73-2079G>A c.632-11G>A (n.632-11G>A) c.698-11G>A (n.698-11G>A) c.707-11G>A (n.707-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573654G= | CA1158018307 | ALPL | c.863-11G= (n.863-11G=) c.73-2079G= c.632-11G= (n.632-11G=) c.698-11G= (n.698-11G=) c.707-11G= (n.707-11G=) | |
1 | g.21573654G>T | CA2643930959 | ALPL | c.863-11G>T (n.863-11G>T) c.73-2079G>T c.632-11G>T (n.632-11G>T) c.698-11G>T (n.698-11G>T) c.707-11G>T (n.707-11G>T) | ClinVar gnomAD v4 |
1 | g.21573654_21573657delinsGTCC | CA1158018308 | ALPL | c.863-11_863-8delinsGTCC (n.863-11_863-8delinsGTCC) c.73-2079_73-2076delinsGTCC c.632-11_632-8delinsGTCC (n.632-11_632-8delinsGTCC) c.698-11_698-8delinsGTCC (n.698-11_698-8delinsGTCC) c.707-11_707-8delinsGTCC (n.707-11_707-8delinsGTCC) | |
1 | g.21573655T>C | CA2643930961 | ALPL | c.863-10T>C (n.863-10T>C) c.73-2078T>C c.632-10T>C (n.632-10T>C) c.698-10T>C (n.698-10T>C) c.707-10T>C (n.707-10T>C) | gnomAD v4 |
1 | g.21573655T>G | CA2695501596 | ALPL | c.863-10T>G (n.863-10T>G) c.73-2078T>G c.632-10T>G (n.632-10T>G) c.698-10T>G (n.698-10T>G) c.707-10T>G (n.707-10T>G) | dbSNP |
1 | g.21573660_21573662del | CA999409686 | ALPL | c.863-5_863-3del (n.863-5_863-3del) c.73-2073_73-2071del c.632-5_632-3del (n.632-5_632-3del) c.698-5_698-3del (n.698-5_698-3del) c.707-5_707-3del (n.707-5_707-3del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573656C= | CA1158018309 | ALPL | c.863-9C= (n.863-9C=) c.73-2077C= c.632-9C= (n.632-9C=) c.698-9C= (n.698-9C=) c.707-9C= (n.707-9C=) | |
1 | g.21573656C>T | CA666662 | ALPL | c.863-9C>T (n.863-9C>T) c.73-2077C>T c.632-9C>T (n.632-9C>T) c.698-9C>T (n.698-9C>T) c.707-9C>T (n.707-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573657C= | CA1158018310 | ALPL | c.863-8C= (n.863-8C=) c.73-2076C= c.632-8C= (n.632-8C=) c.698-8C= (n.698-8C=) c.707-8C= (n.707-8C=) | |
1 | g.21573657C>T | CA666663 | ALPL | c.863-8C>T (n.863-8C>T) c.73-2076C>T c.632-8C>T (n.632-8C>T) c.698-8C>T (n.698-8C>T) c.707-8C>T (n.707-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573658T>A | CA2581649602 | ALPL | c.863-7T>A (n.863-7T>A) c.73-2075T>A c.632-7T>A (n.632-7T>A) c.698-7T>A (n.698-7T>A) c.707-7T>A (n.707-7T>A) | |
1 | g.21573658T>C | CA666664 | ALPL | c.863-7T>C (n.863-7T>C) c.73-2075T>C c.632-7T>C (n.632-7T>C) c.698-7T>C (n.698-7T>C) c.707-7T>C (n.707-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573658T>G | CA1158018311 | ALPL | c.863-7T>G (n.863-7T>G) c.73-2075T>G c.632-7T>G (n.632-7T>G) c.698-7T>G (n.698-7T>G) c.707-7T>G (n.707-7T>G) | dbSNP |
1 | g.21573658T= | CA1140862468 | ALPL | c.863-7T= (n.863-7T=) c.73-2075T= c.632-7T= (n.632-7T=) c.698-7T= (n.698-7T=) c.707-7T= (n.707-7T=) | |
1 | g.21573659C= | CA1158018312 | ALPL | c.863-6C= (n.863-6C=) c.73-2074C= c.632-6C= (n.632-6C=) c.698-6C= (n.698-6C=) c.707-6C= (n.707-6C=) | |
1 | g.21573659C>T | CA1158018313 | ALPL | c.863-6C>T (n.863-6C>T) c.73-2074C>T c.632-6C>T (n.632-6C>T) c.698-6C>T (n.698-6C>T) c.707-6C>T (n.707-6C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.21573660C= | CA1158018314 | ALPL | c.863-5C= (n.863-5C=) c.73-2073C= c.632-5C= (n.632-5C=) c.698-5C= (n.698-5C=) c.707-5C= (n.707-5C=) | |
1 | g.21573660C>T | CA521577931 | ALPL | c.863-5C>T (n.863-5C>T) c.73-2073C>T c.632-5C>T (n.632-5C>T) c.698-5C>T (n.698-5C>T) c.707-5C>T (n.707-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573662C= | CA1158018315 | ALPL | c.863-3C= (n.863-3C=) c.73-2071C= c.632-3C= (n.632-3C=) c.698-3C= (n.698-3C=) c.707-3C= (n.707-3C=) | |
1 | g.21573662C>T | CA666665 | ALPL | c.863-3C>T (n.863-3C>T) c.73-2071C>T c.632-3C>T (n.632-3C>T) c.698-3C>T (n.698-3C>T) c.707-3C>T (n.707-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573663A= | CA1158018316 | ALPL | c.863-2A= (n.863-2A=) c.73-2070A= c.632-2A= (n.632-2A=) c.698-2A= (n.698-2A=) c.707-2A= (n.707-2A=) | |
1 | g.21573663A>C | CA338880154 | ALPL | c.863-2A>C (n.863-2A>C) c.73-2070A>C c.632-2A>C (n.632-2A>C) c.698-2A>C (n.698-2A>C) c.707-2A>C (n.707-2A>C) | dbSNP |
1 | g.21573663A>G | CA338880155 | ALPL | c.863-2A>G (n.863-2A>G) c.73-2070A>G c.632-2A>G (n.632-2A>G) c.698-2A>G (n.698-2A>G) c.707-2A>G (n.707-2A>G) | |
1 | g.21573663A>T | CA338880156 | ALPL | c.863-2A>T (n.863-2A>T) c.73-2070A>T c.632-2A>T (n.632-2A>T) c.698-2A>T (n.698-2A>T) c.707-2A>T (n.707-2A>T) | gnomAD v4 |
1 | g.21573664G>A | CA338880159 | ALPL | c.863-1G>A (n.863-1G>A) c.73-2069G>A c.632-1G>A (n.632-1G>A) c.698-1G>A (n.698-1G>A) c.707-1G>A (n.707-1G>A) | dbSNP |
1 | g.21573664G>C | CA338880158 | ALPL | c.863-1G>C (n.863-1G>C) c.73-2069G>C c.632-1G>C (n.632-1G>C) c.698-1G>C (n.698-1G>C) c.707-1G>C (n.707-1G>C) | COSMIC |
1 | g.21573664G= | CA1158018317 | ALPL | c.863-1G= (n.863-1G=) c.73-2069G= c.632-1G= (n.632-1G=) c.698-1G= (n.698-1G=) c.707-1G= (n.707-1G=) | |
1 | g.21573664G>T | CA338880157 | ALPL | c.863-1G>T (n.863-1G>T) c.73-2069G>T c.632-1G>T (n.632-1G>T) c.698-1G>T (n.698-1G>T) c.707-1G>T (n.707-1G>T) | dbSNP COSMIC |
1 | g.21573665del | CA2839739701 | ALPL | c.863del c.73-2068del c.632del c.698del c.707del | |
1 | g.21573665G>A | CA338880160 | ALPL | c.863G>A (p.Gly288Asp) c.73-2068G>A c.632G>A (p.Gly211Asp) c.698G>A (p.Gly233Asp) c.707G>A (p.Gly236Asp) | ClinVar dbSNP |
1 | g.21573665G>C | CA338880161 | ALPL | c.863G>C (p.Gly288Ala) c.73-2068G>C c.632G>C (p.Gly211Ala) c.698G>C (p.Gly233Ala) c.707G>C (p.Gly236Ala) | |
1 | g.21573665G>T | CA338880162 | ALPL | c.863G>T (p.Gly288Val) c.73-2068G>T c.632G>T (p.Gly211Val) c.698G>T (p.Gly233Val) c.707G>T (p.Gly236Val) | |
1 | g.21573666T>A | CA416532278 | ALPL | c.864T>A (p.Gly288=) c.73-2067T>A c.633T>A (p.Gly211=) c.699T>A (p.Gly233=) c.708T>A (p.Gly236=) | |
1 | g.21573666T>C | CA666666 | ALPL | c.864T>C (p.Gly288=) c.73-2067T>C c.633T>C (p.Gly211=) c.699T>C (p.Gly233=) c.708T>C (p.Gly236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573666T>G | CA416532280 | ALPL | c.864T>G (p.Gly288=) c.73-2067T>G c.633T>G (p.Gly211=) c.699T>G (p.Gly233=) c.708T>G (p.Gly236=) | |
1 | g.21573666T= | CA1158018318 | ALPL | c.864T= (p.Gly288=) c.73-2067T= c.633T= (p.Gly211=) c.699T= (p.Gly233=) c.708T= (p.Gly236=) | |
1 | g.21573667C>A | CA338880163 | ALPL | c.865C>A (p.Leu289Ile) c.73-2066C>A c.634C>A (p.Leu212Ile) c.700C>A (p.Leu234Ile) c.709C>A (p.Leu237Ile) | |
1 | g.21573667C>G | CA338880164 | ALPL | c.865C>G (p.Leu289Val) c.73-2066C>G c.634C>G (p.Leu212Val) c.700C>G (p.Leu234Val) c.709C>G (p.Leu237Val) | |
1 | g.21573667C>T | CA338880165 | ALPL | c.865C>T (p.Leu289Phe) c.73-2066C>T c.634C>T (p.Leu212Phe) c.700C>T (p.Leu234Phe) c.709C>T (p.Leu237Phe) | gnomAD v4 |
1 | g.21573668_21573688del | CA2643930962 | ALPL | c.866_886del (p.Leu289_Met295del) c.73-2065_73-2045del c.635_655del (p.Leu212_Met218del) c.701_721del (p.Leu234_Met240del) c.710_730del (p.Leu237_Met243del) | gnomAD v4 |
1 | g.21573668T>A | CA338880166 | ALPL | c.866T>A (p.Leu289His) c.73-2065T>A c.635T>A (p.Leu212His) c.701T>A (p.Leu234His) c.710T>A (p.Leu237His) | |
1 | g.21573668T>C | CA338880167 | ALPL | c.866T>C (p.Leu289Pro) c.73-2065T>C c.635T>C (p.Leu212Pro) c.701T>C (p.Leu234Pro) c.710T>C (p.Leu237Pro) | |
1 | g.21573668T>G | CA338880168 | ALPL | c.866T>G (p.Leu289Arg) c.73-2065T>G c.635T>G (p.Leu212Arg) c.701T>G (p.Leu234Arg) c.710T>G (p.Leu237Arg) | |
1 | g.21573669C>A | CA416532297 | ALPL | c.867C>A (p.Leu289=) c.73-2064C>A c.636C>A (p.Leu212=) c.702C>A (p.Leu234=) c.711C>A (p.Leu237=) | |
1 | g.21573669C>G | CA416532301 | ALPL | c.867C>G (p.Leu289=) c.73-2064C>G c.636C>G (p.Leu212=) c.702C>G (p.Leu234=) c.711C>G (p.Leu237=) | |
1 | g.21573669C>T | CA416532299 | ALPL | c.867C>T (p.Leu289=) c.73-2064C>T c.636C>T (p.Leu212=) c.702C>T (p.Leu234=) c.711C>T (p.Leu237=) | ClinVar gnomAD v4 |
1 | g.21573670T>A | CA338880169 | ALPL | c.868T>A (p.Phe290Ile) c.73-2063T>A c.637T>A (p.Phe213Ile) c.703T>A (p.Phe235Ile) c.712T>A (p.Phe238Ile) | |
1 | g.21573670T>C | CA338880170 | ALPL | c.868T>C (p.Phe290Leu) c.73-2063T>C c.637T>C (p.Phe213Leu) c.703T>C (p.Phe235Leu) c.712T>C (p.Phe238Leu) | |
1 | g.21573670T>G | CA338880171 | ALPL | c.868T>G (p.Phe290Val) c.73-2063T>G c.637T>G (p.Phe213Val) c.703T>G (p.Phe235Val) c.712T>G (p.Phe238Val) | |
1 | g.21573671T>A | CA338880174 | ALPL | c.869T>A (p.Phe290Tyr) c.73-2062T>A c.638T>A (p.Phe213Tyr) c.704T>A (p.Phe235Tyr) c.713T>A (p.Phe238Tyr) | |
1 | g.21573671T>C | CA338880172 | ALPL | c.869T>C (p.Phe290Ser) c.73-2062T>C c.638T>C (p.Phe213Ser) c.704T>C (p.Phe235Ser) c.713T>C (p.Phe238Ser) | |
1 | g.21573671T>G | CA338880173 | ALPL | c.869T>G (p.Phe290Cys) c.73-2062T>G c.638T>G (p.Phe213Cys) c.704T>G (p.Phe235Cys) c.713T>G (p.Phe238Cys) | |
1 | g.21573672C>A | CA338880175 | ALPL | c.870C>A (p.Phe290Leu) c.73-2061C>A c.639C>A (p.Phe213Leu) c.705C>A (p.Phe235Leu) c.714C>A (p.Phe238Leu) | |
1 | g.21573672C= | CA1158018319 | ALPL | c.870C= (p.Phe290=) c.73-2061C= c.639C= (p.Phe213=) c.705C= (p.Phe235=) c.714C= (p.Phe238=) | |
1 | g.21573672C>G | CA338880176 | ALPL | c.870C>G (p.Phe290Leu) c.73-2061C>G c.639C>G (p.Phe213Leu) c.705C>G (p.Phe235Leu) c.714C>G (p.Phe238Leu) | |
1 | g.21573672C>T | CA666667 | ALPL | c.870C>T (p.Phe290=) c.73-2061C>T c.639C>T (p.Phe213=) c.705C>T (p.Phe235=) c.714C>T (p.Phe238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21573673G>A | CA273965 | ALPL | c.871G>A (p.Glu291Lys) c.73-2060G>A c.640G>A (p.Glu214Lys) c.706G>A (p.Glu236Lys) c.715G>A (p.Glu239Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573673G>C | CA338880177 | ALPL | c.871G>C (p.Glu291Gln) c.73-2060G>C c.640G>C (p.Glu214Gln) c.706G>C (p.Glu236Gln) c.715G>C (p.Glu239Gln) | ClinVar |
1 | g.21573673G= | CA1158018320 | ALPL | c.871G= (p.Glu291=) c.73-2060G= c.640G= (p.Glu214=) c.706G= (p.Glu236=) c.715G= (p.Glu239=) | |
1 | g.21573673G>T | CA338880178 | ALPL | c.871G>T (p.Glu291Ter) c.73-2060G>T c.640G>T (p.Glu214Ter) c.706G>T (p.Glu236Ter) c.715G>T (p.Glu239Ter) | ClinVar |
1 | g.21573674A>C | CA338880179 | ALPL | c.872A>C (p.Glu291Ala) c.73-2059A>C c.641A>C (p.Glu214Ala) c.707A>C (p.Glu236Ala) c.716A>C (p.Glu239Ala) | |
1 | g.21573674A>G | CA338880180 | ALPL | c.872A>G (p.Glu291Gly) c.73-2059A>G c.641A>G (p.Glu214Gly) c.707A>G (p.Glu236Gly) c.716A>G (p.Glu239Gly) | |
1 | g.21573674A>T | CA338880181 | ALPL | c.872A>T (p.Glu291Val) c.73-2059A>T c.641A>T (p.Glu214Val) c.707A>T (p.Glu236Val) c.716A>T (p.Glu239Val) | |
1 | g.21573675G>A | CA416532326 | ALPL | c.873G>A (p.Glu291=) c.73-2058G>A c.642G>A (p.Glu214=) c.708G>A (p.Glu236=) c.717G>A (p.Glu239=) | gnomAD v4 |
1 | g.21573675G>C | CA338880182 | ALPL | c.873G>C (p.Glu291Asp) c.73-2058G>C c.642G>C (p.Glu214Asp) c.708G>C (p.Glu236Asp) c.717G>C (p.Glu239Asp) | |
1 | g.21573675G>T | CA338880183 | ALPL | c.873G>T (p.Glu291Asp) c.73-2058G>T c.642G>T (p.Glu214Asp) c.708G>T (p.Glu236Asp) c.717G>T (p.Glu239Asp) | gnomAD v4 |
1 | g.21573676C>A | CA666669 | ALPL | c.874C>A (p.Pro292Thr) c.73-2057C>A c.643C>A (p.Pro215Thr) c.709C>A (p.Pro237Thr) c.718C>A (p.Pro240Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573676C= | CA1158018321 | ALPL | c.874C= (p.Pro292=) c.73-2057C= c.643C= (p.Pro215=) c.709C= (p.Pro237=) c.718C= (p.Pro240=) | |
1 | g.21573676C>G | CA338880184 | ALPL | c.874C>G (p.Pro292Ala) c.73-2057C>G c.643C>G (p.Pro215Ala) c.709C>G (p.Pro237Ala) c.718C>G (p.Pro240Ala) | |
1 | g.21573676C>T | CA666668 | ALPL | c.874C>T (p.Pro292Ser) c.73-2057C>T c.643C>T (p.Pro215Ser) c.709C>T (p.Pro237Ser) c.718C>T (p.Pro240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573677C>A | CA338880185 | ALPL | c.875C>A (p.Pro292Gln) c.73-2056C>A c.644C>A (p.Pro215Gln) c.710C>A (p.Pro237Gln) c.719C>A (p.Pro240Gln) | gnomAD v4 |
1 | g.21573677C= | CA1158018324 | ALPL | c.875C= (p.Pro292=) c.73-2056C= c.644C= (p.Pro215=) c.710C= (p.Pro237=) c.719C= (p.Pro240=) | |
1 | g.21573677C>G | CA338880187 | ALPL | c.875C>G (p.Pro292Arg) c.73-2056C>G c.644C>G (p.Pro215Arg) c.710C>G (p.Pro237Arg) c.719C>G (p.Pro240Arg) | |
1 | g.21573677C>T | CA338880186 | ALPL | c.875C>T (p.Pro292Leu) c.73-2056C>T c.644C>T (p.Pro215Leu) c.710C>T (p.Pro237Leu) c.719C>T (p.Pro240Leu) | dbSNP gnomAD v4 |
1 | g.21573677_21573683delinsT | CA2586964054 | ALPL | c.875_881delinsT (p.Pro292_Asp294delinsLeu) c.73-2056_73-2050delinsT c.644_650delinsT (p.Pro215_Asp217delinsLeu) c.710_716delinsT (p.Pro237_Asp239delinsLeu) c.719_725delinsT (p.Pro240_Asp242delinsLeu) | |
1 | g.21573677_21573683delinsCAGGGGA | CA1158018322 | ALPL | c.875_881delinsCAGGGGA (p.Pro292=) c.73-2056_73-2050delinsCAGGGGA c.644_650delinsCAGGGGA (p.Pro215=) c.710_716delinsCAGGGGA (p.Pro237=) c.719_725delinsCAGGGGA (p.Pro240=) | |
1 | g.21573677_21573684delinsCAGGGGAC | CA1158018323 | ALPL | c.875_882delinsCAGGGGAC (p.Pro292=) c.73-2056_73-2049delinsCAGGGGAC c.644_651delinsCAGGGGAC (p.Pro215=) c.710_717delinsCAGGGGAC (p.Pro237=) c.719_726delinsCAGGGGAC (p.Pro240=) | |
1 | g.21573679_21573685del | CA2586964055 | ALPL | c.877_883del (p.Gly293CysfsTer5) c.73-2054_73-2048del c.646_652del (p.Gly216CysfsTer5) c.712_718del (p.Gly238CysfsTer5) c.721_727del (p.Gly241CysfsTer5) | |
1 | g.21573678A= | CA1139989381 | ALPL | c.876A= (p.Pro292=) c.73-2055A= c.645A= (p.Pro215=) c.711A= (p.Pro237=) c.720A= (p.Pro240=) | |
1 | g.21573678A>C | CA416532353 | ALPL | c.876A>C (p.Pro292=) c.73-2055A>C c.645A>C (p.Pro215=) c.711A>C (p.Pro237=) c.720A>C (p.Pro240=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573678A>G | CA666670 | ALPL | c.876A>G (p.Pro292=) c.73-2055A>G c.645A>G (p.Pro215=) c.711A>G (p.Pro237=) c.720A>G (p.Pro240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573678A>T | CA416532351 | ALPL | c.876A>T (p.Pro292=) c.73-2055A>T c.645A>T (p.Pro215=) c.711A>T (p.Pro237=) c.720A>T (p.Pro240=) | dbSNP |
1 | g.21573678_21573683del | CA416532345 | ALPL | c.876_881del (p.Gly293_Asp294del) c.73-2055_73-2050del c.645_650del (p.Gly216_Asp217del) c.711_716del (p.Gly238_Asp239del) c.720_725del (p.Gly241_Asp242del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573678_21573684delinsT | CA658656891 | ALPL | c.876_882delinsT (p.Gly293_Asp294del) c.73-2055_73-2049delinsT c.645_651delinsT (p.Gly216_Asp217del) c.711_717delinsT (p.Gly238_Asp239del) c.720_726delinsT (p.Gly241_Asp242del) | ClinVar dbSNP |
1 | g.21573679G>A | CA338880191 | ALPL | c.877G>A (p.Gly293Arg) c.73-2054G>A c.646G>A (p.Gly216Arg) c.712G>A (p.Gly238Arg) c.721G>A (p.Gly241Arg) | |
1 | g.21573679G>C | CA338880188 | ALPL | c.877G>C (p.Gly293Arg) c.73-2054G>C c.646G>C (p.Gly216Arg) c.712G>C (p.Gly238Arg) c.721G>C (p.Gly241Arg) | |
1 | g.21573679G>T | CA338880189 | ALPL | c.877G>T (p.Gly293Trp) c.73-2054G>T c.646G>T (p.Gly216Trp) c.712G>T (p.Gly238Trp) c.721G>T (p.Gly241Trp) | |
1 | g.21573682del | CA2574252925 | ALPL | c.880del (p.Asp294ThrfsTer6) c.73-2051del c.649del (p.Asp217ThrfsTer6) c.715del (p.Asp239ThrfsTer6) c.724del (p.Asp242ThrfsTer6) | ClinVar |
1 | g.21573679_21573684del | CA338880190 | ALPL | c.877_882del (p.Gly293_Asp294del) c.73-2054_73-2049del c.646_651del (p.Gly216_Asp217del) c.712_717del (p.Gly238_Asp239del) c.721_726del (p.Gly241_Asp242del) | ClinVar |
1 | g.21573680G>A | CA338880192 | ALPL | c.878G>A (p.Gly293Glu) c.73-2053G>A c.647G>A (p.Gly216Glu) c.713G>A (p.Gly238Glu) c.722G>A (p.Gly241Glu) | |
1 | g.21573680G>C | CA338880193 | ALPL | c.878G>C (p.Gly293Ala) c.73-2053G>C c.647G>C (p.Gly216Ala) c.713G>C (p.Gly238Ala) c.722G>C (p.Gly241Ala) | |
1 | g.21573680G>T | CA338880194 | ALPL | c.878G>T (p.Gly293Val) c.73-2053G>T c.647G>T (p.Gly216Val) c.713G>T (p.Gly238Val) c.722G>T (p.Gly241Val) | |
1 | g.21573681G>A | CA416532370 | ALPL | c.879G>A (p.Gly293=) c.73-2052G>A c.648G>A (p.Gly216=) c.714G>A (p.Gly238=) c.723G>A (p.Gly241=) | ClinVar gnomAD v4 |
1 | g.21573681G>C | CA416532367 | ALPL | c.879G>C (p.Gly293=) c.73-2052G>C c.648G>C (p.Gly216=) c.714G>C (p.Gly238=) c.723G>C (p.Gly241=) | |
1 | g.21573681G>T | CA416532373 | ALPL | c.879G>T (p.Gly293=) c.73-2052G>T c.648G>T (p.Gly216=) c.714G>T (p.Gly238=) c.723G>T (p.Gly241=) | ClinVar |
1 | g.21573682G>A | CA338880195 | ALPL | c.880G>A (p.Asp294Asn) c.73-2051G>A c.649G>A (p.Asp217Asn) c.715G>A (p.Asp239Asn) c.724G>A (p.Asp242Asn) | ClinVar |
1 | g.21573682G>C | CA338880196 | ALPL | c.880G>C (p.Asp294His) c.73-2051G>C c.649G>C (p.Asp217His) c.715G>C (p.Asp239His) c.724G>C (p.Asp242His) | gnomAD v4 |
1 | g.21573682G= | CA1158018325 | ALPL | c.880G= (p.Asp294=) c.73-2051G= c.649G= (p.Asp217=) c.715G= (p.Asp239=) c.724G= (p.Asp242=) | |
1 | g.21573682G>T | CA338880197 | ALPL | c.880G>T (p.Asp294Tyr) c.73-2051G>T c.649G>T (p.Asp217Tyr) c.715G>T (p.Asp239Tyr) c.724G>T (p.Asp242Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.21573683A= | CA1141580643 | ALPL | c.881A= (p.Asp294=) c.73-2050A= c.650A= (p.Asp217=) c.716A= (p.Asp239=) c.725A= (p.Asp242=) | |
1 | g.21573683A>C | CA256921 | ALPL | c.881A>C (p.Asp294Ala) c.73-2050A>C c.650A>C (p.Asp217Ala) c.716A>C (p.Asp239Ala) c.725A>C (p.Asp242Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573683A>G | CA338880198 | ALPL | c.881A>G (p.Asp294Gly) c.73-2050A>G c.650A>G (p.Asp217Gly) c.716A>G (p.Asp239Gly) c.725A>G (p.Asp242Gly) | ClinVar |
1 | g.21573683A>T | CA338880199 | ALPL | c.881A>T (p.Asp294Val) c.73-2050A>T c.650A>T (p.Asp217Val) c.716A>T (p.Asp239Val) c.725A>T (p.Asp242Val) | |
1 | g.21573684C>A | CA338880201 | ALPL | c.882C>A (p.Asp294Glu) c.73-2049C>A c.651C>A (p.Asp217Glu) c.717C>A (p.Asp239Glu) c.726C>A (p.Asp242Glu) | dbSNP gnomAD v4 |
1 | g.21573684C= | CA1158018326 | ALPL | c.882C= (p.Asp294=) c.73-2049C= c.651C= (p.Asp217=) c.717C= (p.Asp239=) c.726C= (p.Asp242=) | |
1 | g.21573684C>G | CA338880200 | ALPL | c.882C>G (p.Asp294Glu) c.73-2049C>G c.651C>G (p.Asp217Glu) c.717C>G (p.Asp239Glu) c.726C>G (p.Asp242Glu) | |
1 | g.21573684C>T | CA416532406 | ALPL | c.882C>T (p.Asp294=) c.73-2049C>T c.651C>T (p.Asp217=) c.717C>T (p.Asp239=) c.726C>T (p.Asp242=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573685A= | CA1158018327 | ALPL | c.883A= (p.Met295=) c.73-2048A= c.652A= (p.Met218=) c.718A= (p.Met240=) c.727A= (p.Met243=) | |
1 | g.21573685A>C | CA338880202 | ALPL | c.883A>C (p.Met295Leu) c.73-2048A>C c.652A>C (p.Met218Leu) c.718A>C (p.Met240Leu) c.727A>C (p.Met243Leu) | |
1 | g.21573685A>G | CA338880203 | ALPL | c.883A>G (p.Met295Val) c.73-2048A>G c.652A>G (p.Met218Val) c.718A>G (p.Met240Val) c.727A>G (p.Met243Val) | ClinVar gnomAD v4 |
1 | g.21573685A>T | CA338880204 | ALPL | c.883A>T (p.Met295Leu) c.73-2048A>T c.652A>T (p.Met218Leu) c.718A>T (p.Met240Leu) c.727A>T (p.Met243Leu) | dbSNP |
1 | g.21573686T>A | CA338880205 | ALPL | c.884T>A (p.Met295Lys) c.73-2047T>A c.653T>A (p.Met218Lys) c.719T>A (p.Met240Lys) c.728T>A (p.Met243Lys) | |
1 | g.21573686T>C | CA338880206 | ALPL | c.884T>C (p.Met295Thr) c.73-2047T>C c.653T>C (p.Met218Thr) c.719T>C (p.Met240Thr) c.728T>C (p.Met243Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573686T>G | CA338880207 | ALPL | c.884T>G (p.Met295Arg) c.73-2047T>G c.653T>G (p.Met218Arg) c.719T>G (p.Met240Arg) c.728T>G (p.Met243Arg) | |
1 | g.21573686T= | CA1158018328 | ALPL | c.884T= (p.Met295=) c.73-2047T= c.653T= (p.Met218=) c.719T= (p.Met240=) c.728T= (p.Met243=) | |
1 | g.21573687G>A | CA338880208 | ALPL | c.885G>A (p.Met295Ile) c.73-2046G>A c.654G>A (p.Met218Ile) c.720G>A (p.Met240Ile) c.729G>A (p.Met243Ile) | |
1 | g.21573687G>C | CA338880209 | ALPL | c.885G>C (p.Met295Ile) c.73-2046G>C c.654G>C (p.Met218Ile) c.720G>C (p.Met240Ile) c.729G>C (p.Met243Ile) | |
1 | g.21573687G>T | CA338880210 | ALPL | c.885G>T (p.Met295Ile) c.73-2046G>T c.654G>T (p.Met218Ile) c.720G>T (p.Met240Ile) c.729G>T (p.Met243Ile) | |
1 | g.21573688C>A | CA338880211 | ALPL | c.886C>A (p.Gln296Lys) c.73-2045C>A c.655C>A (p.Gln219Lys) c.721C>A (p.Gln241Lys) c.730C>A (p.Gln244Lys) | gnomAD v4 |
1 | g.21573688C>G | CA338880212 | ALPL | c.886C>G (p.Gln296Glu) c.73-2045C>G c.655C>G (p.Gln219Glu) c.721C>G (p.Gln241Glu) c.730C>G (p.Gln244Glu) | |
1 | g.21573688C>T | CA338880213 | ALPL | c.886C>T (p.Gln296Ter) c.73-2045C>T c.655C>T (p.Gln219Ter) c.721C>T (p.Gln241Ter) c.730C>T (p.Gln244Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.21573689A= | CA1148476431 | ALPL | c.887A= (p.Gln296=) c.73-2044A= c.656A= (p.Gln219=) c.722A= (p.Gln241=) c.731A= (p.Gln244=) | |
1 | g.21573689A>C | CA338880215 | ALPL | c.887A>C (p.Gln296Pro) c.73-2044A>C c.656A>C (p.Gln219Pro) c.722A>C (p.Gln241Pro) c.731A>C (p.Gln244Pro) | ClinVar |
1 | g.21573689A>G | CA338880214 | ALPL | c.887A>G (p.Gln296Arg) c.73-2044A>G c.656A>G (p.Gln219Arg) c.722A>G (p.Gln241Arg) c.731A>G (p.Gln244Arg) | |
1 | g.21573689A>T | CA666671 | ALPL | c.887A>T (p.Gln296Leu) c.73-2044A>T c.656A>T (p.Gln219Leu) c.722A>T (p.Gln241Leu) c.731A>T (p.Gln244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573690G>A | CA416532450 | ALPL | c.888G>A (p.Gln296=) c.73-2043G>A c.657G>A (p.Gln219=) c.723G>A (p.Gln241=) c.732G>A (p.Gln244=) | |
1 | g.21573690G>C | CA338880216 | ALPL | c.888G>C (p.Gln296His) c.73-2043G>C c.657G>C (p.Gln219His) c.723G>C (p.Gln241His) c.732G>C (p.Gln244His) | |
1 | g.21573690G>T | CA338880217 | ALPL | c.888G>T (p.Gln296His) c.73-2043G>T c.657G>T (p.Gln219His) c.723G>T (p.Gln241His) c.732G>T (p.Gln244His) | dbSNP |
1 | g.21573691T>A | CA338880218 | ALPL | c.889T>A (p.Tyr297Asn) c.73-2042T>A c.658T>A (p.Tyr220Asn) c.724T>A (p.Tyr242Asn) c.733T>A (p.Tyr245Asn) | ClinVar dbSNP |
1 | g.21573691T>C | CA338880219 | ALPL | c.889T>C (p.Tyr297His) c.73-2042T>C c.658T>C (p.Tyr220His) c.724T>C (p.Tyr242His) c.733T>C (p.Tyr245His) | |
1 | g.21573691T>G | CA338880220 | ALPL | c.889T>G (p.Tyr297Asp) c.73-2042T>G c.658T>G (p.Tyr220Asp) c.724T>G (p.Tyr242Asp) c.733T>G (p.Tyr245Asp) | |
1 | g.21573692A= | CA1158018329 | ALPL | c.890A= (p.Tyr297=) c.73-2041A= c.659A= (p.Tyr220=) c.725A= (p.Tyr242=) c.734A= (p.Tyr245=) | |
1 | g.21573692A>C | CA338880221 | ALPL | c.890A>C (p.Tyr297Ser) c.73-2041A>C c.659A>C (p.Tyr220Ser) c.725A>C (p.Tyr242Ser) c.734A>C (p.Tyr245Ser) | |
1 | g.21573692A>G | CA338880222 | ALPL | c.890A>G (p.Tyr297Cys) c.73-2041A>G c.659A>G (p.Tyr220Cys) c.725A>G (p.Tyr242Cys) c.734A>G (p.Tyr245Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573692A>T | CA338880223 | ALPL | c.890A>T (p.Tyr297Phe) c.73-2041A>T c.659A>T (p.Tyr220Phe) c.725A>T (p.Tyr242Phe) c.734A>T (p.Tyr245Phe) | gnomAD v4 |
1 | g.21573693C>A | CA274381 | ALPL | c.891C>A (p.Tyr297Ter) c.73-2040C>A c.660C>A (p.Tyr220Ter) c.726C>A (p.Tyr242Ter) c.735C>A (p.Tyr245Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573693C= | CA1158018330 | ALPL | c.891C= (p.Tyr297=) c.73-2040C= c.660C= (p.Tyr220=) c.726C= (p.Tyr242=) c.735C= (p.Tyr245=) | |
1 | g.21573693C>G | CA338880224 | ALPL | c.891C>G (p.Tyr297Ter) c.73-2040C>G c.660C>G (p.Tyr220Ter) c.726C>G (p.Tyr242Ter) c.735C>G (p.Tyr245Ter) | ClinVar |
1 | g.21573693C>T | CA416532474 | ALPL | c.891C>T (p.Tyr297=) c.73-2040C>T c.660C>T (p.Tyr220=) c.726C>T (p.Tyr242=) c.735C>T (p.Tyr245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573694G>A | CA256926 | ALPL | c.892G>A (p.Glu298Lys) c.73-2039G>A c.661G>A (p.Glu221Lys) c.727G>A (p.Glu243Lys) c.736G>A (p.Glu246Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573694G>C | CA338880225 | ALPL | c.892G>C (p.Glu298Gln) c.73-2039G>C c.661G>C (p.Glu221Gln) c.727G>C (p.Glu243Gln) c.736G>C (p.Glu246Gln) | dbSNP gnomAD v4 |
1 | g.21573694G= | CA1141580644 | ALPL | c.892G= (p.Glu298=) c.73-2039G= c.661G= (p.Glu221=) c.727G= (p.Glu243=) c.736G= (p.Glu246=) | |
1 | g.21573694G>T | CA338880226 | ALPL | c.892G>T (p.Glu298Ter) c.73-2039G>T c.661G>T (p.Glu221Ter) c.727G>T (p.Glu243Ter) c.736G>T (p.Glu246Ter) | |
1 | g.21573695A>C | CA338880227 | ALPL | c.893A>C (p.Glu298Ala) c.73-2038A>C c.662A>C (p.Glu221Ala) c.728A>C (p.Glu243Ala) c.737A>C (p.Glu246Ala) | |
1 | g.21573695A>G | CA338880229 | ALPL | c.893A>G (p.Glu298Gly) c.73-2038A>G c.662A>G (p.Glu221Gly) c.728A>G (p.Glu243Gly) c.737A>G (p.Glu246Gly) | |
1 | g.21573695A>T | CA338880228 | ALPL | c.893A>T (p.Glu298Val) c.73-2038A>T c.662A>T (p.Glu221Val) c.728A>T (p.Glu243Val) c.737A>T (p.Glu246Val) | |
1 | g.21573696G>A | CA416532494 | ALPL | c.894G>A (p.Glu298=) c.73-2037G>A c.663G>A (p.Glu221=) c.729G>A (p.Glu243=) c.738G>A (p.Glu246=) | ClinVar gnomAD v4 |
1 | g.21573696G>C | CA338880230 | ALPL | c.894G>C (p.Glu298Asp) c.73-2037G>C c.663G>C (p.Glu221Asp) c.729G>C (p.Glu243Asp) c.738G>C (p.Glu246Asp) | |
1 | g.21573696G>T | CA338880231 | ALPL | c.894G>T (p.Glu298Asp) c.73-2037G>T c.663G>T (p.Glu221Asp) c.729G>T (p.Glu243Asp) c.738G>T (p.Glu246Asp) | ClinVar gnomAD v4 |
1 | g.21573697C>A | CA338880232 | ALPL | c.895C>A (p.Leu299Met) c.73-2036C>A c.664C>A (p.Leu222Met) c.730C>A (p.Leu244Met) c.739C>A (p.Leu247Met) | |
1 | g.21573697C>G | CA338880233 | ALPL | c.895C>G (p.Leu299Val) c.73-2036C>G c.664C>G (p.Leu222Val) c.730C>G (p.Leu244Val) c.739C>G (p.Leu247Val) | |
1 | g.21573697C>T | CA416532500 | ALPL | c.895C>T (p.Leu299=) c.73-2036C>T c.664C>T (p.Leu222=) c.730C>T (p.Leu244=) c.739C>T (p.Leu247=) | |
1 | g.21573698T>A | CA338880234 | ALPL | c.896T>A (p.Leu299Gln) c.73-2035T>A c.665T>A (p.Leu222Gln) c.731T>A (p.Leu244Gln) c.740T>A (p.Leu247Gln) | |
1 | g.21573698T>C | CA338880235 | ALPL | c.896T>C (p.Leu299Pro) c.73-2035T>C c.665T>C (p.Leu222Pro) c.731T>C (p.Leu244Pro) c.740T>C (p.Leu247Pro) | ClinVar dbSNP |
1 | g.21573698T>G | CA338880236 | ALPL | c.896T>G (p.Leu299Arg) c.73-2035T>G c.665T>G (p.Leu222Arg) c.731T>G (p.Leu244Arg) c.740T>G (p.Leu247Arg) | |
1 | g.21573699G>A | CA416532516 | ALPL | c.897G>A (p.Leu299=) c.73-2034G>A c.666G>A (p.Leu222=) c.732G>A (p.Leu244=) c.741G>A (p.Leu247=) | |
1 | g.21573699G>C | CA416532513 | ALPL | c.897G>C (p.Leu299=) c.73-2034G>C c.666G>C (p.Leu222=) c.732G>C (p.Leu244=) c.741G>C (p.Leu247=) | |
1 | g.21573699G>T | CA416532510 | ALPL | c.897G>T (p.Leu299=) c.73-2034G>T c.666G>T (p.Leu222=) c.732G>T (p.Leu244=) c.741G>T (p.Leu247=) | |
1 | g.21573700A>C | CA338880237 | ALPL | c.898A>C (p.Asn300His) c.73-2033A>C c.667A>C (p.Asn223His) c.733A>C (p.Asn245His) c.742A>C (p.Asn248His) | |
1 | g.21573700A>G | CA338880238 | ALPL | c.898A>G (p.Asn300Asp) c.73-2033A>G c.667A>G (p.Asn223Asp) c.733A>G (p.Asn245Asp) c.742A>G (p.Asn248Asp) | |
1 | g.21573700A>T | CA338880239 | ALPL | c.898A>T (p.Asn300Tyr) c.73-2033A>T c.667A>T (p.Asn223Tyr) c.733A>T (p.Asn245Tyr) c.742A>T (p.Asn248Tyr) | |
1 | g.21573700_21573701insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT | CA416532526 | ALPL | c.898_899insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn300delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) c.73-2033_73-2032insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT c.667_668insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn223delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) c.733_734insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn245delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) c.742_743insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn248delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) | |
1 | g.21573701A>C | CA338880242 | ALPL | c.899A>C (p.Asn300Thr) c.73-2032A>C c.668A>C (p.Asn223Thr) c.734A>C (p.Asn245Thr) c.743A>C (p.Asn248Thr) | |
1 | g.21573701A>G | CA338880241 | ALPL | c.899A>G (p.Asn300Ser) c.73-2032A>G c.668A>G (p.Asn223Ser) c.734A>G (p.Asn245Ser) c.743A>G (p.Asn248Ser) | |
1 | g.21573701A>T | CA338880240 | ALPL | c.899A>T (p.Asn300Ile) c.73-2032A>T c.668A>T (p.Asn223Ile) c.734A>T (p.Asn245Ile) c.743A>T (p.Asn248Ile) | |
1 | g.21573702C>A | CA338880243 | ALPL | c.900C>A (p.Asn300Lys) c.73-2031C>A c.669C>A (p.Asn223Lys) c.735C>A (p.Asn245Lys) c.744C>A (p.Asn248Lys) | gnomAD v4 |
1 | g.21573702C= | CA1158018331 | ALPL | c.900C= (p.Asn300=) c.73-2031C= c.669C= (p.Asn223=) c.735C= (p.Asn245=) c.744C= (p.Asn248=) | |
1 | g.21573702C>G | CA338880244 | ALPL | c.900C>G (p.Asn300Lys) c.73-2031C>G c.669C>G (p.Asn223Lys) c.735C>G (p.Asn245Lys) c.744C>G (p.Asn248Lys) | dbSNP |
1 | g.21573702C>T | CA416532532 | ALPL | c.900C>T (p.Asn300=) c.73-2031C>T c.669C>T (p.Asn223=) c.735C>T (p.Asn245=) c.744C>T (p.Asn248=) | |
1 | g.21573703A>C | CA416532536 | ALPL | c.901A>C (p.Arg301=) c.73-2030A>C c.670A>C (p.Arg224=) c.736A>C (p.Arg246=) c.745A>C (p.Arg249=) | |
1 | g.21573703A>G | CA338880245 | ALPL | c.901A>G (p.Arg301Gly) c.73-2030A>G c.670A>G (p.Arg224Gly) c.736A>G (p.Arg246Gly) c.745A>G (p.Arg249Gly) | |
1 | g.21573703A>T | CA338880246 | ALPL | c.901A>T (p.Arg301Trp) c.73-2030A>T c.670A>T (p.Arg224Trp) c.736A>T (p.Arg246Trp) c.745A>T (p.Arg249Trp) | |
1 | g.21573703_21573704delinsAG | CA1158018332 | ALPL | c.901_902delinsAG (p.Arg301=) c.73-2030_73-2029delinsAG c.670_671delinsAG (p.Arg224=) c.736_737delinsAG (p.Arg246=) c.745_746delinsAG (p.Arg249=) | |
1 | g.21573704G>A | CA338880247 | ALPL | c.902G>A (p.Arg301Lys) c.73-2029G>A c.671G>A (p.Arg224Lys) c.737G>A (p.Arg246Lys) c.746G>A (p.Arg249Lys) | ClinVar dbSNP |
1 | g.21573704G>C | CA338880248 | ALPL | c.902G>C (p.Arg301Thr) c.73-2029G>C c.671G>C (p.Arg224Thr) c.737G>C (p.Arg246Thr) c.746G>C (p.Arg249Thr) | |
1 | g.21573704G= | CA1158018333 | ALPL | c.902G= (p.Arg301=) c.73-2029G= c.671G= (p.Arg224=) c.737G= (p.Arg246=) c.746G= (p.Arg249=) | |
1 | g.21573704G>T | CA338880249 | ALPL | c.902G>T (p.Arg301Met) c.73-2029G>T c.671G>T (p.Arg224Met) c.737G>T (p.Arg246Met) c.746G>T (p.Arg249Met) | |
1 | g.21573705del | CA666672 | ALPL | c.903del (p.Asn302ThrfsTer3) c.73-2028del c.672del (p.Asn225ThrfsTer3) c.738del (p.Asn247ThrfsTer3) c.747del (p.Asn250ThrfsTer3) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.21573705G>A | CA666673 | ALPL | c.903G>A (p.Arg301=) c.73-2028G>A c.672G>A (p.Arg224=) c.738G>A (p.Arg246=) c.747G>A (p.Arg249=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.21573705G>C | CA338880250 | ALPL | c.903G>C (p.Arg301Ser) c.73-2028G>C c.672G>C (p.Arg224Ser) c.738G>C (p.Arg246Ser) c.747G>C (p.Arg249Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573705G= | CA1149066334 | ALPL | c.903G= (p.Arg301=) c.73-2028G= c.672G= (p.Arg224=) c.738G= (p.Arg246=) c.747G= (p.Arg249=) | |
1 | g.21573705G>T | CA338880251 | ALPL | c.903G>T (p.Arg301Ser) c.73-2028G>T c.672G>T (p.Arg224Ser) c.738G>T (p.Arg246Ser) c.747G>T (p.Arg249Ser) | ClinVar gnomAD v4 |
1 | g.21573706A>C | CA338880252 | ALPL | c.904A>C (p.Asn302His) c.73-2027A>C c.673A>C (p.Asn225His) c.739A>C (p.Asn247His) c.748A>C (p.Asn250His) | |
1 | g.21573706A>G | CA338880253 | ALPL | c.904A>G (p.Asn302Asp) c.73-2027A>G c.673A>G (p.Asn225Asp) c.739A>G (p.Asn247Asp) c.748A>G (p.Asn250Asp) | |
1 | g.21573706A>T | CA338880254 | ALPL | c.904A>T (p.Asn302Tyr) c.73-2027A>T c.673A>T (p.Asn225Tyr) c.739A>T (p.Asn247Tyr) c.748A>T (p.Asn250Tyr) | |
1 | g.21573707A>C | CA338880255 | ALPL | c.905A>C (p.Asn302Thr) c.73-2026A>C c.674A>C (p.Asn225Thr) c.740A>C (p.Asn247Thr) c.749A>C (p.Asn250Thr) | |
1 | g.21573707A>G | CA338880257 | ALPL | c.905A>G (p.Asn302Ser) c.73-2026A>G c.674A>G (p.Asn225Ser) c.740A>G (p.Asn247Ser) c.749A>G (p.Asn250Ser) | |
1 | g.21573707A>T | CA338880256 | ALPL | c.905A>T (p.Asn302Ile) c.73-2026A>T c.674A>T (p.Asn225Ile) c.740A>T (p.Asn247Ile) c.749A>T (p.Asn250Ile) | |
1 | g.21573708C>A | CA666674 | ALPL | c.906C>A (p.Asn302Lys) c.73-2025C>A c.675C>A (p.Asn225Lys) c.741C>A (p.Asn247Lys) c.750C>A (p.Asn250Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573708C= | CA1146752558 | ALPL | c.906C= (p.Asn302=) c.73-2025C= c.675C= (p.Asn225=) c.741C= (p.Asn247=) c.750C= (p.Asn250=) | |
1 | g.21573708C>G | CA666675 | ALPL | c.906C>G (p.Asn302Lys) c.73-2025C>G c.675C>G (p.Asn225Lys) c.741C>G (p.Asn247Lys) c.750C>G (p.Asn250Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573708C>T | CA416532568 | ALPL | c.906C>T (p.Asn302=) c.73-2025C>T c.675C>T (p.Asn225=) c.741C>T (p.Asn247=) c.750C>T (p.Asn250=) | |
1 | g.21573709A>C | CA338880258 | ALPL | c.907A>C (p.Asn303His) c.73-2024A>C c.676A>C (p.Asn226His) c.742A>C (p.Asn248His) c.751A>C (p.Asn251His) | |
1 | g.21573709A>G | CA338880259 | ALPL | c.907A>G (p.Asn303Asp) c.73-2024A>G c.676A>G (p.Asn226Asp) c.742A>G (p.Asn248Asp) c.751A>G (p.Asn251Asp) | |
1 | g.21573709A>T | CA338880260 | ALPL | c.907A>T (p.Asn303Tyr) c.73-2024A>T c.676A>T (p.Asn226Tyr) c.742A>T (p.Asn248Tyr) c.751A>T (p.Asn251Tyr) | |
1 | g.21573709_21573710insCACG | CA2580061454 | ALPL | c.907_908insCACG (p.Asn303ThrfsTer?) c.73-2024_73-2023insCACG c.676_677insCACG (p.Asn226ThrfsTer?) c.742_743insCACG (p.Asn248ThrfsTer?) c.751_752insCACG (p.Asn251ThrfsTer?) | ClinVar |
1 | g.21573710A>C | CA338880261 | ALPL | c.908A>C (p.Asn303Thr) c.73-2023A>C c.677A>C (p.Asn226Thr) c.743A>C (p.Asn248Thr) c.752A>C (p.Asn251Thr) | |
1 | g.21573710A>G | CA338880262 | ALPL | c.908A>G (p.Asn303Ser) c.73-2023A>G c.677A>G (p.Asn226Ser) c.743A>G (p.Asn248Ser) c.752A>G (p.Asn251Ser) | |
1 | g.21573710A>T | CA338880263 | ALPL | c.908A>T (p.Asn303Ile) c.73-2023A>T c.677A>T (p.Asn226Ile) c.743A>T (p.Asn248Ile) c.752A>T (p.Asn251Ile) | |
1 | g.21573711C>A | CA338880264 | ALPL | c.909C>A (p.Asn303Lys) c.73-2022C>A c.678C>A (p.Asn226Lys) c.744C>A (p.Asn248Lys) c.753C>A (p.Asn251Lys) | |
1 | g.21573711C= | CA1158018334 | ALPL | c.909C= (p.Asn303=) c.73-2022C= c.678C= (p.Asn226=) c.744C= (p.Asn248=) c.753C= (p.Asn251=) | |
1 | g.21573711C>G | CA338880265 | ALPL | c.909C>G (p.Asn303Lys) c.73-2022C>G c.678C>G (p.Asn226Lys) c.744C>G (p.Asn248Lys) c.753C>G (p.Asn251Lys) | |
1 | g.21573711C>T | CA416532586 | ALPL | c.909C>T (p.Asn303=) c.73-2022C>T c.678C>T (p.Asn226=) c.744C>T (p.Asn248=) c.753C>T (p.Asn251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573712G>A | CA666676 | ALPL | c.910G>A (p.Val304Met) c.73-2021G>A c.679G>A (p.Val227Met) c.745G>A (p.Val249Met) c.754G>A (p.Val252Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.21573712G>C | CA338880267 | ALPL | c.910G>C (p.Val304Leu) c.73-2021G>C c.679G>C (p.Val227Leu) c.745G>C (p.Val249Leu) c.754G>C (p.Val252Leu) | |
1 | g.21573712G= | CA1148255032 | ALPL | c.910G= (p.Val304=) c.73-2021G= c.679G= (p.Val227=) c.745G= (p.Val249=) c.754G= (p.Val252=) | |
1 | g.21573712G>T | CA338880266 | ALPL | c.910G>T (p.Val304Leu) c.73-2021G>T c.679G>T (p.Val227Leu) c.745G>T (p.Val249Leu) c.754G>T (p.Val252Leu) | |
1 | g.21573713T>A | CA338880268 | ALPL | c.911T>A (p.Val304Glu) c.73-2020T>A c.680T>A (p.Val227Glu) c.746T>A (p.Val249Glu) c.755T>A (p.Val252Glu) | |
1 | g.21573713T>C | CA338880269 | ALPL | c.911T>C (p.Val304Ala) c.73-2020T>C c.680T>C (p.Val227Ala) c.746T>C (p.Val249Ala) c.755T>C (p.Val252Ala) | |
1 | g.21573713T>G | CA338880270 | ALPL | c.911T>G (p.Val304Gly) c.73-2020T>G c.680T>G (p.Val227Gly) c.746T>G (p.Val249Gly) c.755T>G (p.Val252Gly) | |
1 | g.21573713dup | CA2574252956 | ALPL | c.911dup (p.Thr305AspfsTer?) c.73-2020dup c.680dup (p.Thr228AspfsTer?) c.746dup (p.Thr250AspfsTer?) c.755dup (p.Thr253AspfsTer?) | |
1 | g.21573714G>A | CA416532605 | ALPL | c.912G>A (p.Val304=) c.73-2019G>A c.681G>A (p.Val227=) c.747G>A (p.Val249=) c.756G>A (p.Val252=) | |
1 | g.21573714G>C | CA416532603 | ALPL | c.912G>C (p.Val304=) c.73-2019G>C c.681G>C (p.Val227=) c.747G>C (p.Val249=) c.756G>C (p.Val252=) | |
1 | g.21573714G>T | CA416532608 | ALPL | c.912G>T (p.Val304=) c.73-2019G>T c.681G>T (p.Val227=) c.747G>T (p.Val249=) c.756G>T (p.Val252=) | |
1 | g.21573715A>C | CA338880271 | ALPL | c.913A>C (p.Thr305Pro) c.73-2018A>C c.682A>C (p.Thr228Pro) c.748A>C (p.Thr250Pro) c.757A>C (p.Thr253Pro) | |
1 | g.21573715A>G | CA338880272 | ALPL | c.913A>G (p.Thr305Ala) c.73-2018A>G c.682A>G (p.Thr228Ala) c.748A>G (p.Thr250Ala) c.757A>G (p.Thr253Ala) | |
1 | g.21573715A>T | CA338880273 | ALPL | c.913A>T (p.Thr305Ser) c.73-2018A>T c.682A>T (p.Thr228Ser) c.748A>T (p.Thr250Ser) c.757A>T (p.Thr253Ser) | |
1 | g.21573716C>A | CA338880274 | ALPL | c.914C>A (p.Thr305Lys) c.73-2017C>A c.683C>A (p.Thr228Lys) c.749C>A (p.Thr250Lys) c.758C>A (p.Thr253Lys) | gnomAD v3 gnomAD v4 |
1 | g.21573716C= | CA1142144445 | ALPL | c.914C= (p.Thr305=) c.73-2017C= c.683C= (p.Thr228=) c.749C= (p.Thr250=) c.758C= (p.Thr253=) | |
1 | g.21573716C>G | CA338880275 | ALPL | c.914C>G (p.Thr305Arg) c.73-2017C>G c.683C>G (p.Thr228Arg) c.749C>G (p.Thr250Arg) c.758C>G (p.Thr253Arg) | |
1 | g.21573716C>T | CA666677 | ALPL | c.914C>T (p.Thr305Met) c.73-2017C>T c.683C>T (p.Thr228Met) c.749C>T (p.Thr250Met) c.758C>T (p.Thr253Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573717G>A | CA666678 | ALPL | c.915G>A (p.Thr305=) c.73-2016G>A c.684G>A (p.Thr228=) c.750G>A (p.Thr250=) c.759G>A (p.Thr253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573717G>C | CA416532626 | ALPL | c.915G>C (p.Thr305=) c.73-2016G>C c.684G>C (p.Thr228=) c.750G>C (p.Thr250=) c.759G>C (p.Thr253=) | COSMIC |
1 | g.21573717G= | CA1144249684 | ALPL | c.915G= (p.Thr305=) c.73-2016G= c.684G= (p.Thr228=) c.750G= (p.Thr250=) c.759G= (p.Thr253=) | |
1 | g.21573717G>T | CA416532624 | ALPL | c.915G>T (p.Thr305=) c.73-2016G>T c.684G>T (p.Thr228=) c.750G>T (p.Thr250=) c.759G>T (p.Thr253=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573718G>A | CA338880276 | ALPL | c.916G>A (p.Asp306Asn) c.73-2015G>A c.685G>A (p.Asp229Asn) c.751G>A (p.Asp251Asn) c.760G>A (p.Asp254Asn) | gnomAD v4 COSMIC |
1 | g.21573718G>C | CA338880277 | ALPL | c.916G>C (p.Asp306His) c.73-2015G>C c.685G>C (p.Asp229His) c.751G>C (p.Asp251His) c.760G>C (p.Asp254His) | |
1 | g.21573718G= | CA1158018335 | ALPL | c.916G= (p.Asp306=) c.73-2015G= c.685G= (p.Asp229=) c.751G= (p.Asp251=) c.760G= (p.Asp254=) | |
1 | g.21573718G>T | CA338880278 | ALPL | c.916G>T (p.Asp306Tyr) c.73-2015G>T c.685G>T (p.Asp229Tyr) c.751G>T (p.Asp251Tyr) c.760G>T (p.Asp254Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573719A= | CA1158018336 | ALPL | c.917A= (p.Asp306=) c.73-2014A= c.686A= (p.Asp229=) c.752A= (p.Asp251=) c.761A= (p.Asp254=) | |
1 | g.21573719A>C | CA338880281 | ALPL | c.917A>C (p.Asp306Ala) c.73-2014A>C c.686A>C (p.Asp229Ala) c.752A>C (p.Asp251Ala) c.761A>C (p.Asp254Ala) | dbSNP |
1 | g.21573719A>G | CA338880279 | ALPL | c.917A>G (p.Asp306Gly) c.73-2014A>G c.686A>G (p.Asp229Gly) c.752A>G (p.Asp251Gly) c.761A>G (p.Asp254Gly) | |
1 | g.21573719A>T | CA338880280 | ALPL | c.917A>T (p.Asp306Val) c.73-2014A>T c.686A>T (p.Asp229Val) c.752A>T (p.Asp251Val) c.761A>T (p.Asp254Val) | |
1 | g.21573720C>A | CA338880282 | ALPL | c.918C>A (p.Asp306Glu) c.73-2013C>A c.687C>A (p.Asp229Glu) c.753C>A (p.Asp251Glu) c.762C>A (p.Asp254Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573720C= | CA1143916242 | ALPL | c.918C= (p.Asp306=) c.73-2013C= c.687C= (p.Asp229=) c.753C= (p.Asp251=) c.762C= (p.Asp254=) | |
1 | g.21573720C>G | CA338880283 | ALPL | c.918C>G (p.Asp306Glu) c.73-2013C>G c.687C>G (p.Asp229Glu) c.753C>G (p.Asp251Glu) c.762C>G (p.Asp254Glu) | |
1 | g.21573720C>T | CA666679 | ALPL | c.918C>T (p.Asp306=) c.73-2013C>T c.687C>T (p.Asp229=) c.753C>T (p.Asp251=) c.762C>T (p.Asp254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573721C>A | CA338880284 | ALPL | c.919C>A (p.Pro307Thr) c.73-2012C>A c.688C>A (p.Pro230Thr) c.754C>A (p.Pro252Thr) c.763C>A (p.Pro255Thr) | |
1 | g.21573721C= | CA1158018337 | ALPL | c.919C= (p.Pro307=) c.73-2012C= c.688C= (p.Pro230=) c.754C= (p.Pro252=) c.763C= (p.Pro255=) | |
1 | g.21573721C>G | CA338880285 | ALPL | c.919C>G (p.Pro307Ala) c.73-2012C>G c.688C>G (p.Pro230Ala) c.754C>G (p.Pro252Ala) c.763C>G (p.Pro255Ala) | |
1 | g.21573721C>T | CA338880286 | ALPL | c.919C>T (p.Pro307Ser) c.73-2012C>T c.688C>T (p.Pro230Ser) c.754C>T (p.Pro252Ser) c.763C>T (p.Pro255Ser) | ClinVar dbSNP |
1 | g.21573722C>A | CA338880287 | ALPL | c.920C>A (p.Pro307Gln) c.73-2011C>A c.689C>A (p.Pro230Gln) c.755C>A (p.Pro252Gln) c.764C>A (p.Pro255Gln) | gnomAD v4 |
1 | g.21573722C= | CA1158018338 | ALPL | c.920C= (p.Pro307=) c.73-2011C= c.689C= (p.Pro230=) c.755C= (p.Pro252=) c.764C= (p.Pro255=) | |
1 | g.21573722C>G | CA338880288 | ALPL | c.920C>G (p.Pro307Arg) c.73-2011C>G c.689C>G (p.Pro230Arg) c.755C>G (p.Pro252Arg) c.764C>G (p.Pro255Arg) | |
1 | g.21573722C>T | CA666680 | ALPL | c.920C>T (p.Pro307Leu) c.73-2011C>T c.689C>T (p.Pro230Leu) c.755C>T (p.Pro252Leu) c.764C>T (p.Pro255Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573723del | CA2586964057 | ALPL | c.921del (p.Ser308HisfsTer?) c.73-2010del c.690del (p.Ser231HisfsTer?) c.756del (p.Ser253HisfsTer?) c.765del (p.Ser256HisfsTer?) | |
1 | g.21573723G>A | CA416532635 | ALPL | c.921G>A (p.Pro307=) c.73-2010G>A c.690G>A (p.Pro230=) c.756G>A (p.Pro252=) c.765G>A (p.Pro255=) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.21573723G>C | CA416532634 | ALPL | c.921G>C (p.Pro307=) c.73-2010G>C c.690G>C (p.Pro230=) c.756G>C (p.Pro252=) c.765G>C (p.Pro255=) | |
1 | g.21573723G= | CA1158018339 | ALPL | c.921G= (p.Pro307=) c.73-2010G= c.690G= (p.Pro230=) c.756G= (p.Pro252=) c.765G= (p.Pro255=) | |
1 | g.21573723G>T | CA416532636 | ALPL | c.921G>T (p.Pro307=) c.73-2010G>T c.690G>T (p.Pro230=) c.756G>T (p.Pro252=) c.765G>T (p.Pro255=) | |
1 | g.21573724T>A | CA338880289 | ALPL | c.922T>A (p.Ser308Thr) c.73-2009T>A c.691T>A (p.Ser231Thr) c.757T>A (p.Ser253Thr) c.766T>A (p.Ser256Thr) | |
1 | g.21573724T>C | CA338880290 | ALPL | c.922T>C (p.Ser308Pro) c.73-2009T>C c.691T>C (p.Ser231Pro) c.757T>C (p.Ser253Pro) c.766T>C (p.Ser256Pro) | dbSNP |
1 | g.21573724T>G | CA338880291 | ALPL | c.922T>G (p.Ser308Ala) c.73-2009T>G c.691T>G (p.Ser231Ala) c.757T>G (p.Ser253Ala) c.766T>G (p.Ser256Ala) | |
1 | g.21573724T= | CA1158018340 | ALPL | c.922T= (p.Ser308=) c.73-2009T= c.691T= (p.Ser231=) c.757T= (p.Ser253=) c.766T= (p.Ser256=) | |
1 | g.21573725C>A | CA666681 | ALPL | c.923C>A (p.Ser308Ter) c.73-2008C>A c.692C>A (p.Ser231Ter) c.758C>A (p.Ser253Ter) c.767C>A (p.Ser256Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573725C= | CA1144111808 | ALPL | c.923C= (p.Ser308=) c.73-2008C= c.692C= (p.Ser231=) c.758C= (p.Ser253=) c.767C= (p.Ser256=) | |
1 | g.21573725C>G | CA338880292 | ALPL | c.923C>G (p.Ser308Ter) c.73-2008C>G c.692C>G (p.Ser231Ter) c.758C>G (p.Ser253Ter) c.767C>G (p.Ser256Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.21573725C>T | CA19068102 | ALPL | c.923C>T (p.Ser308Leu) c.73-2008C>T c.692C>T (p.Ser231Leu) c.758C>T (p.Ser253Leu) c.767C>T (p.Ser256Leu) | dbSNP gnomAD v4 |
1 | g.21573726A>C | CA416532638 | ALPL | c.924A>C (p.Ser308=) c.73-2007A>C c.693A>C (p.Ser231=) c.759A>C (p.Ser253=) c.768A>C (p.Ser256=) | |
1 | g.21573726A>G | CA416532637 | ALPL | c.924A>G (p.Ser308=) c.73-2007A>G c.693A>G (p.Ser231=) c.759A>G (p.Ser253=) c.768A>G (p.Ser256=) | |
1 | g.21573726A>T | CA416532639 | ALPL | c.924A>T (p.Ser308=) c.73-2007A>T c.693A>T (p.Ser231=) c.759A>T (p.Ser253=) c.768A>T (p.Ser256=) | |
1 | g.21573726_21573728delinsACT | CA1158018341 | ALPL | c.924_926delinsACT (p.Ser308=) c.73-2007_73-2005delinsACT c.693_695delinsACT (p.Ser231=) c.759_761delinsACT (p.Ser253=) c.768_770delinsACT (p.Ser256=) | |
1 | g.21573727C>A | CA338880294 | ALPL | c.925C>A (p.Leu309Ile) c.73-2006C>A c.694C>A (p.Leu232Ile) c.760C>A (p.Leu254Ile) c.769C>A (p.Leu257Ile) | |
1 | g.21573727C>G | CA338880293 | ALPL | c.925C>G (p.Leu309Val) c.73-2006C>G c.694C>G (p.Leu232Val) c.760C>G (p.Leu254Val) c.769C>G (p.Leu257Val) | |
1 | g.21573727C>T | CA338880295 | ALPL | c.925C>T (p.Leu309Phe) c.73-2006C>T c.694C>T (p.Leu232Phe) c.760C>T (p.Leu254Phe) c.769C>T (p.Leu257Phe) | |
1 | g.21573730_21573731del | CA16040719 | ALPL | c.928_929del (p.Ser310ArgfsTer27) c.73-2003_73-2002del c.697_698del (p.Ser233ArgfsTer27) c.763_764del (p.Ser255ArgfsTer27) c.928_929del (p.Ser310ArgfsTer?) c.772_773del (p.Ser258ArgfsTer27) | ClinVar dbSNP |
1 | g.21573728T>A | CA338880297 | ALPL | c.926T>A (p.Leu309His) c.73-2005T>A c.695T>A (p.Leu232His) c.761T>A (p.Leu254His) c.770T>A (p.Leu257His) | |
1 | g.21573728T>C | CA338880296 | ALPL | c.926T>C (p.Leu309Pro) c.73-2005T>C c.695T>C (p.Leu232Pro) c.761T>C (p.Leu254Pro) c.770T>C (p.Leu257Pro) | gnomAD v4 |
1 | g.21573728T>G | CA338880298 | ALPL | c.926T>G (p.Leu309Arg) c.73-2005T>G c.695T>G (p.Leu232Arg) c.761T>G (p.Leu254Arg) c.770T>G (p.Leu257Arg) |