Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21570247T>G | CA1158016937 | ALPL | c.793-58T>G (n.793-58T>G) c.562-58T>G (n.562-58T>G) c.628-58T>G (n.628-58T>G) c.637-58T>G (n.637-58T>G) | dbSNP |
1 | g.21570247T= | CA1158016936 | ALPL | c.793-58T= (n.793-58T=) c.562-58T= (n.562-58T=) c.628-58T= (n.628-58T=) c.637-58T= (n.637-58T=) | |
1 | g.21570248C>A | CA2643930553 | ALPL | c.793-57C>A (n.793-57C>A) c.562-57C>A (n.562-57C>A) c.628-57C>A (n.628-57C>A) c.637-57C>A (n.637-57C>A) | gnomAD v4 |
1 | g.21570248C>G | CA2643930554 | ALPL | c.793-57C>G (n.793-57C>G) c.562-57C>G (n.562-57C>G) c.628-57C>G (n.628-57C>G) c.637-57C>G (n.637-57C>G) | gnomAD v4 |
1 | g.21570248C>T | CA2643930555 | ALPL | c.793-57C>T (n.793-57C>T) c.562-57C>T (n.562-57C>T) c.628-57C>T (n.628-57C>T) c.637-57C>T (n.637-57C>T) | gnomAD v4 |
1 | g.21570249A>T | CA2574253160 | ALPL | c.793-56A>T (n.793-56A>T) c.562-56A>T (n.562-56A>T) c.628-56A>T (n.628-56A>T) c.637-56A>T (n.637-56A>T) | |
1 | g.21570251T>A | CA731320157 | ALPL | c.793-54T>A (n.793-54T>A) c.562-54T>A (n.562-54T>A) c.628-54T>A (n.628-54T>A) c.637-54T>A (n.637-54T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570251T= | CA1158016938 | ALPL | c.793-54T= (n.793-54T=) c.562-54T= (n.562-54T=) c.628-54T= (n.628-54T=) c.637-54T= (n.637-54T=) | |
1 | g.21570252C>A | CA2643930556 | ALPL | c.793-53C>A (n.793-53C>A) c.562-53C>A (n.562-53C>A) c.628-53C>A (n.628-53C>A) c.637-53C>A (n.637-53C>A) | gnomAD v4 |
1 | g.21570253C>A | CA2643930558 | ALPL | c.793-52C>A (n.793-52C>A) c.562-52C>A (n.562-52C>A) c.628-52C>A (n.628-52C>A) c.637-52C>A (n.637-52C>A) | gnomAD v4 |
1 | g.21570253_21570254del | CA2643930557 | ALPL | c.793-52_793-51del (n.793-52_793-51del) c.562-52_562-51del (n.562-52_562-51del) c.628-52_628-51del (n.628-52_628-51del) c.637-52_637-51del (n.637-52_637-51del) | gnomAD v4 |
1 | g.21570254T>C | CA521577603 | ALPL | c.793-51T>C (n.793-51T>C) c.562-51T>C (n.562-51T>C) c.628-51T>C (n.628-51T>C) c.637-51T>C (n.637-51T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570254T= | CA1158016939 | ALPL | c.793-51T= (n.793-51T=) c.562-51T= (n.562-51T=) c.628-51T= (n.628-51T=) c.637-51T= (n.637-51T=) | |
1 | g.21570256C>A | CA2643930559 | ALPL | c.793-49C>A (n.793-49C>A) c.562-49C>A (n.562-49C>A) c.628-49C>A (n.628-49C>A) c.637-49C>A (n.637-49C>A) | gnomAD v4 |
1 | g.21570257C>A | CA2574253161 | ALPL | c.793-48C>A (n.793-48C>A) c.562-48C>A (n.562-48C>A) c.628-48C>A (n.628-48C>A) c.637-48C>A (n.637-48C>A) | gnomAD v4 |
1 | g.21570257C= | CA1143728444 | ALPL | c.793-48C= (n.793-48C=) c.562-48C= (n.562-48C=) c.628-48C= (n.628-48C=) c.637-48C= (n.637-48C=) | |
1 | g.21570257C>T | CA666613 | ALPL | c.793-48C>T (n.793-48C>T) c.562-48C>T (n.562-48C>T) c.628-48C>T (n.628-48C>T) c.637-48C>T (n.637-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570258G>A | CA666614 | ALPL | c.793-47G>A (n.793-47G>A) c.562-47G>A (n.562-47G>A) c.628-47G>A (n.628-47G>A) c.637-47G>A (n.637-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570258G= | CA1143956713 | ALPL | c.793-47G= (n.793-47G=) c.562-47G= (n.562-47G=) c.628-47G= (n.628-47G=) c.637-47G= (n.637-47G=) | |
1 | g.21570258G>T | CA666615 | ALPL | c.793-47G>T (n.793-47G>T) c.562-47G>T (n.562-47G>T) c.628-47G>T (n.628-47G>T) c.637-47G>T (n.637-47G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570259A>C | CA999407794 | ALPL | c.793-46A>C (n.793-46A>C) c.562-46A>C (n.562-46A>C) c.628-46A>C (n.628-46A>C) c.637-46A>C (n.637-46A>C) | gnomAD v3 gnomAD v4 |
1 | g.21570260C>A | CA2643930560 | ALPL | c.793-45C>A (n.793-45C>A) c.562-45C>A (n.562-45C>A) c.628-45C>A (n.628-45C>A) c.637-45C>A (n.637-45C>A) | gnomAD v4 |
1 | g.21570260C= | CA1158016940 | ALPL | c.793-45C= (n.793-45C=) c.562-45C= (n.562-45C=) c.628-45C= (n.628-45C=) c.637-45C= (n.637-45C=) | |
1 | g.21570260C>G | CA521577604 | ALPL | c.793-45C>G (n.793-45C>G) c.562-45C>G (n.562-45C>G) c.628-45C>G (n.628-45C>G) c.637-45C>G (n.637-45C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570262C>A | CA2643930561 | ALPL | c.793-43C>A (n.793-43C>A) c.562-43C>A (n.562-43C>A) c.628-43C>A (n.628-43C>A) c.637-43C>A (n.637-43C>A) | gnomAD v4 |
1 | g.21570262C>T | CA2643930562 | ALPL | c.793-43C>T (n.793-43C>T) c.562-43C>T (n.562-43C>T) c.628-43C>T (n.628-43C>T) c.637-43C>T (n.637-43C>T) | gnomAD v4 |
1 | g.21570263T>G | CA666616 | ALPL | c.793-42T>G (n.793-42T>G) c.562-42T>G (n.562-42T>G) c.628-42T>G (n.628-42T>G) c.637-42T>G (n.637-42T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570263T= | CA1143954741 | ALPL | c.793-42T= (n.793-42T=) c.562-42T= (n.562-42T=) c.628-42T= (n.628-42T=) c.637-42T= (n.637-42T=) | |
1 | g.21570264C>A | CA2643930563 | ALPL | c.793-41C>A (n.793-41C>A) c.562-41C>A (n.562-41C>A) c.628-41C>A (n.628-41C>A) c.637-41C>A (n.637-41C>A) | gnomAD v4 |
1 | g.21570264C= | CA1158016941 | ALPL | c.793-41C= (n.793-41C=) c.562-41C= (n.562-41C=) c.628-41C= (n.628-41C=) c.637-41C= (n.637-41C=) | |
1 | g.21570264C>T | CA1158016942 | ALPL | c.793-41C>T (n.793-41C>T) c.562-41C>T (n.562-41C>T) c.628-41C>T (n.628-41C>T) c.637-41C>T (n.637-41C>T) | dbSNP gnomAD v4 |
1 | g.21570265C>A | CA2643930564 | ALPL | c.793-40C>A (n.793-40C>A) c.562-40C>A (n.562-40C>A) c.628-40C>A (n.628-40C>A) c.637-40C>A (n.637-40C>A) | gnomAD v4 |
1 | g.21570266C>A | CA2643930565 | ALPL | c.793-39C>A (n.793-39C>A) c.562-39C>A (n.562-39C>A) c.628-39C>A (n.628-39C>A) c.637-39C>A (n.637-39C>A) | gnomAD v4 |
1 | g.21570266C>G | CA2643930566 | ALPL | c.793-39C>G (n.793-39C>G) c.562-39C>G (n.562-39C>G) c.628-39C>G (n.628-39C>G) c.637-39C>G (n.637-39C>G) | gnomAD v4 |
1 | g.21570268A>G | CA2643930567 | ALPL | c.793-37A>G (n.793-37A>G) c.562-37A>G (n.562-37A>G) c.628-37A>G (n.628-37A>G) c.637-37A>G (n.637-37A>G) | gnomAD v4 |
1 | g.21570269G>A | CA1158016943 | ALPL | c.793-36G>A (n.793-36G>A) c.562-36G>A (n.562-36G>A) c.628-36G>A (n.628-36G>A) c.637-36G>A (n.637-36G>A) | dbSNP |
1 | g.21570269G= | CA1158016944 | ALPL | c.793-36G= (n.793-36G=) c.562-36G= (n.562-36G=) c.628-36G= (n.628-36G=) c.637-36G= (n.637-36G=) | |
1 | g.21570269G>T | CA2643930568 | ALPL | c.793-36G>T (n.793-36G>T) c.562-36G>T (n.562-36G>T) c.628-36G>T (n.628-36G>T) c.637-36G>T (n.637-36G>T) | gnomAD v4 |
1 | g.21570270C>A | CA19065036 | ALPL | c.793-35C>A (n.793-35C>A) c.562-35C>A (n.562-35C>A) c.628-35C>A (n.628-35C>A) c.637-35C>A (n.637-35C>A) | dbSNP gnomAD v4 |
1 | g.21570270C= | CA1144166149 | ALPL | c.793-35C= (n.793-35C=) c.562-35C= (n.562-35C=) c.628-35C= (n.628-35C=) c.637-35C= (n.637-35C=) | |
1 | g.21570270C>G | CA521577605 | ALPL | c.793-35C>G (n.793-35C>G) c.562-35C>G (n.562-35C>G) c.628-35C>G (n.628-35C>G) c.637-35C>G (n.637-35C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570270C>T | CA2643930570 | ALPL | c.793-35C>T (n.793-35C>T) c.562-35C>T (n.562-35C>T) c.628-35C>T (n.628-35C>T) c.637-35C>T (n.637-35C>T) | gnomAD v4 |
1 | g.21570274dup | CA2832533870 | ALPL | c.793-31dup (n.793-31dup) c.562-31dup (n.562-31dup) c.628-31dup (n.628-31dup) c.637-31dup (n.637-31dup) | |
1 | g.21570274del | CA2643930569 | ALPL | c.793-31del (n.793-31del) c.562-31del (n.562-31del) c.628-31del (n.628-31del) c.637-31del (n.637-31del) | gnomAD v4 |
1 | g.21570271C>T | CA2643930571 | ALPL | c.793-34C>T (n.793-34C>T) c.562-34C>T (n.562-34C>T) c.628-34C>T (n.628-34C>T) c.637-34C>T (n.637-34C>T) | gnomAD v4 |
1 | g.21570272C>A | CA1158016946 | ALPL | c.793-33C>A (n.793-33C>A) c.562-33C>A (n.562-33C>A) c.628-33C>A (n.628-33C>A) c.637-33C>A (n.637-33C>A) | dbSNP |
1 | g.21570272C= | CA1158016945 | ALPL | c.793-33C= (n.793-33C=) c.562-33C= (n.562-33C=) c.628-33C= (n.628-33C=) c.637-33C= (n.637-33C=) | |
1 | g.21570272C>T | CA666617 | ALPL | c.793-33C>T (n.793-33C>T) c.562-33C>T (n.562-33C>T) c.628-33C>T (n.628-33C>T) c.637-33C>T (n.637-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570275_21570294del | CA2586964043 | ALPL | c.793-30_793-11del (n.793-30_793-11del) c.562-30_562-11del (n.562-30_562-11del) c.628-30_628-11del (n.628-30_628-11del) c.637-30_637-11del (n.637-30_637-11del) | ClinVar |
1 | g.21570273C= | CA1158016947 | ALPL | c.793-32C= (n.793-32C=) c.562-32C= (n.562-32C=) c.628-32C= (n.628-32C=) c.637-32C= (n.637-32C=) | |
1 | g.21570273C>T | CA1158016948 | ALPL | c.793-32C>T (n.793-32C>T) c.562-32C>T (n.562-32C>T) c.628-32C>T (n.628-32C>T) c.637-32C>T (n.637-32C>T) | dbSNP |
1 | g.21570274C>A | CA2581649592 | ALPL | c.793-31C>A (n.793-31C>A) c.562-31C>A (n.562-31C>A) c.628-31C>A (n.628-31C>A) c.637-31C>A (n.637-31C>A) | |
1 | g.21570274C= | CA1139859681 | ALPL | c.793-31C= (n.793-31C=) c.562-31C= (n.562-31C=) c.628-31C= (n.628-31C=) c.637-31C= (n.637-31C=) | |
1 | g.21570274C>G | CA2581649593 | ALPL | c.793-31C>G (n.793-31C>G) c.562-31C>G (n.562-31C>G) c.628-31C>G (n.628-31C>G) c.637-31C>G (n.637-31C>G) | |
1 | g.21570274C>T | CA666618 | ALPL | c.793-31C>T (n.793-31C>T) c.562-31C>T (n.562-31C>T) c.628-31C>T (n.628-31C>T) c.637-31C>T (n.637-31C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570275G>A | CA666619 | ALPL | c.793-30G>A (n.793-30G>A) c.562-30G>A (n.562-30G>A) c.628-30G>A (n.628-30G>A) c.637-30G>A (n.637-30G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570275G= | CA1143806519 | ALPL | c.793-30G= (n.793-30G=) c.562-30G= (n.562-30G=) c.628-30G= (n.628-30G=) c.637-30G= (n.637-30G=) | |
1 | g.21570276del | CA2643930573 | ALPL | c.793-29del (n.793-29del) c.562-29del (n.562-29del) c.628-29del (n.628-29del) c.637-29del (n.637-29del) | gnomAD v4 |
1 | g.21570276G>A | CA666621 | ALPL | c.793-29G>A (n.793-29G>A) c.562-29G>A (n.562-29G>A) c.628-29G>A (n.628-29G>A) c.637-29G>A (n.637-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570276G>C | CA666620 | ALPL | c.793-29G>C (n.793-29G>C) c.562-29G>C (n.562-29G>C) c.628-29G>C (n.628-29G>C) c.637-29G>C (n.637-29G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570276G= | CA1145487232 | ALPL | c.793-29G= (n.793-29G=) c.562-29G= (n.562-29G=) c.628-29G= (n.628-29G=) c.637-29G= (n.637-29G=) | |
1 | g.21570277C>A | CA19065092 | ALPL | c.793-28C>A (n.793-28C>A) c.562-28C>A (n.562-28C>A) c.628-28C>A (n.628-28C>A) c.637-28C>A (n.637-28C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570277C= | CA1140734788 | ALPL | c.793-28C= (n.793-28C=) c.562-28C= (n.562-28C=) c.628-28C= (n.628-28C=) c.637-28C= (n.637-28C=) | |
1 | g.21570277C>T | CA2643930579 | ALPL | c.793-28C>T (n.793-28C>T) c.562-28C>T (n.562-28C>T) c.628-28C>T (n.628-28C>T) c.637-28C>T (n.637-28C>T) | gnomAD v4 |
1 | g.21570278A>G | CA2643930582 | ALPL | c.793-27A>G (n.793-27A>G) c.562-27A>G (n.562-27A>G) c.628-27A>G (n.628-27A>G) c.637-27A>G (n.637-27A>G) | gnomAD v4 |
1 | g.21570279T>C | CA731320193 | ALPL | c.793-26T>C (n.793-26T>C) c.562-26T>C (n.562-26T>C) c.628-26T>C (n.628-26T>C) c.637-26T>C (n.637-26T>C) | dbSNP gnomAD v4 |
1 | g.21570279T= | CA1158016949 | ALPL | c.793-26T= (n.793-26T=) c.562-26T= (n.562-26T=) c.628-26T= (n.628-26T=) c.637-26T= (n.637-26T=) | |
1 | g.21570283C= | CA1158016950 | ALPL | c.793-22C= (n.793-22C=) c.562-22C= (n.562-22C=) c.628-22C= (n.628-22C=) c.637-22C= (n.637-22C=) | |
1 | g.21570283C>T | CA731320194 | ALPL | c.793-22C>T (n.793-22C>T) c.562-22C>T (n.562-22C>T) c.628-22C>T (n.628-22C>T) c.637-22C>T (n.637-22C>T) | dbSNP gnomAD v4 |
1 | g.21570284dup | CA2841021446 | ALPL | c.793-21dup (n.793-21dup) c.562-21dup (n.562-21dup) c.628-21dup (n.628-21dup) c.637-21dup (n.637-21dup) | |
1 | g.21570285_21570287delinsGAC | CA1158016951 | ALPL | c.793-20_793-18delinsGAC (n.793-20_793-18delinsGAC) c.562-20_562-18delinsGAC (n.562-20_562-18delinsGAC) c.628-20_628-18delinsGAC (n.628-20_628-18delinsGAC) c.637-20_637-18delinsGAC (n.637-20_637-18delinsGAC) | |
1 | g.21570286A>G | CA2643930583 | ALPL | c.793-19A>G (n.793-19A>G) c.562-19A>G (n.562-19A>G) c.628-19A>G (n.628-19A>G) c.637-19A>G (n.637-19A>G) | gnomAD v4 |
1 | g.21570289_21570290del | CA666622 | ALPL | c.793-16_793-15del (n.793-16_793-15del) c.562-16_562-15del (n.562-16_562-15del) c.628-16_628-15del (n.628-16_628-15del) c.637-16_637-15del (n.637-16_637-15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570287C= | CA1158016952 | ALPL | c.793-18C= (n.793-18C=) c.562-18C= (n.562-18C=) c.628-18C= (n.628-18C=) c.637-18C= (n.637-18C=) | |
1 | g.21570287C>T | CA999407813 | ALPL | c.793-18C>T (n.793-18C>T) c.562-18C>T (n.562-18C>T) c.628-18C>T (n.628-18C>T) c.637-18C>T (n.637-18C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570288A>G | CA2574253162 | ALPL | c.793-17A>G (n.793-17A>G) c.562-17A>G (n.562-17A>G) c.628-17A>G (n.628-17A>G) c.637-17A>G (n.637-17A>G) | ClinVar |
1 | g.21570289C>T | CA2580061446 | ALPL | c.793-16C>T (n.793-16C>T) c.562-16C>T (n.562-16C>T) c.628-16C>T (n.628-16C>T) c.637-16C>T (n.637-16C>T) | ClinVar |
1 | g.21570290A>G | CA2643930585 | ALPL | c.793-15A>G (n.793-15A>G) c.562-15A>G (n.562-15A>G) c.628-15A>G (n.628-15A>G) c.637-15A>G (n.637-15A>G) | ClinVar gnomAD v4 |
1 | g.21570291G>T | CA2839113649 | ALPL | c.793-14G>T (n.793-14G>T) c.562-14G>T (n.562-14G>T) c.628-14G>T (n.628-14G>T) c.637-14G>T (n.637-14G>T) | |
1 | g.21570292C>A | CA521577606 | ALPL | c.793-13C>A (n.793-13C>A) c.562-13C>A (n.562-13C>A) c.628-13C>A (n.628-13C>A) c.637-13C>A (n.637-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570292C= | CA1158016953 | ALPL | c.793-13C= (n.793-13C=) c.562-13C= (n.562-13C=) c.628-13C= (n.628-13C=) c.637-13C= (n.637-13C=) | |
1 | g.21570292C>T | CA666623 | ALPL | c.793-13C>T (n.793-13C>T) c.562-13C>T (n.562-13C>T) c.628-13C>T (n.628-13C>T) c.637-13C>T (n.637-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570294C>T | CA2643930589 | ALPL | c.793-11C>T (n.793-11C>T) c.562-11C>T (n.562-11C>T) c.628-11C>T (n.628-11C>T) c.637-11C>T (n.637-11C>T) | gnomAD v4 |
1 | g.21570295T>A | CA2739272373 | ALPL | c.793-10T>A (n.793-10T>A) c.562-10T>A (n.562-10T>A) c.628-10T>A (n.628-10T>A) c.637-10T>A (n.637-10T>A) | ClinVar |
1 | g.21570295T>C | CA645293787 | ALPL | c.793-10T>C (n.793-10T>C) c.562-10T>C (n.562-10T>C) c.628-10T>C (n.628-10T>C) c.637-10T>C (n.637-10T>C) | ClinVar dbSNP |
1 | g.21570295T= | CA1158016954 | ALPL | c.793-10T= (n.793-10T=) c.562-10T= (n.562-10T=) c.628-10T= (n.628-10T=) c.637-10T= (n.637-10T=) | |
1 | g.21570299_21570310del | CA2643930590 | ALPL | c.793-6_798del c.562-6_567del c.628-6_633del c.637-6_642del | gnomAD v4 |
1 | g.21570297C>A | CA2742753857 | ALPL | c.793-8C>A (n.793-8C>A) c.562-8C>A (n.562-8C>A) c.628-8C>A (n.628-8C>A) c.637-8C>A (n.637-8C>A) | |
1 | g.21570301C>T | CA2643930591 | ALPL | c.793-4C>T (n.793-4C>T) c.562-4C>T (n.562-4C>T) c.628-4C>T (n.628-4C>T) c.637-4C>T (n.637-4C>T) | gnomAD v4 |
1 | g.21570303A>C | CA338879829 | ALPL | c.793-2A>C (n.793-2A>C) c.1A>C c.562-2A>C (n.562-2A>C) c.628-2A>C (n.628-2A>C) c.637-2A>C (n.637-2A>C) | |
1 | g.21570303A>G | CA338879830 | ALPL | c.793-2A>G (n.793-2A>G) c.1A>G c.562-2A>G (n.562-2A>G) c.628-2A>G (n.628-2A>G) c.637-2A>G (n.637-2A>G) | |
1 | g.21570303A>T | CA338879832 | ALPL | c.793-2A>T (n.793-2A>T) c.1A>T c.562-2A>T (n.562-2A>T) c.628-2A>T (n.628-2A>T) c.637-2A>T (n.637-2A>T) | |
1 | g.21570304G>A | CA338879834 | ALPL | c.793-1G>A (n.793-1G>A) c.2G>A c.562-1G>A (n.562-1G>A) c.628-1G>A (n.628-1G>A) c.637-1G>A (n.637-1G>A) | |
1 | g.21570304G>C | CA338879835 | ALPL | c.793-1G>C (n.793-1G>C) c.2G>C c.562-1G>C (n.562-1G>C) c.628-1G>C (n.628-1G>C) c.637-1G>C (n.637-1G>C) | |
1 | g.21570304G>T | CA338879837 | ALPL | c.793-1G>T (n.793-1G>T) c.2G>T c.562-1G>T (n.562-1G>T) c.628-1G>T (n.628-1G>T) c.637-1G>T (n.637-1G>T) | |
1 | g.21570305del | CA2739272374 | ALPL | c.793del (p.His265ThrfsTer12) c.3del c.562del (p.His188ThrfsTer12) c.628del (p.His210ThrfsTer12) c.637del (p.His213ThrfsTer12) | ClinVar |
1 | g.21570305C>A | CA338879842 | ALPL | c.793C>A (p.His265Asn) c.3C>A c.562C>A (p.His188Asn) c.628C>A (p.His210Asn) c.637C>A (p.His213Asn) | |
1 | g.21570305C>G | CA338879839 | ALPL | c.793C>G (p.His265Asp) c.3C>G c.562C>G (p.His188Asp) c.628C>G (p.His210Asp) c.637C>G (p.His213Asp) | |
1 | g.21570305C>T | CA338879841 | ALPL | c.793C>T (p.His265Tyr) c.3C>T c.562C>T (p.His188Tyr) c.628C>T (p.His210Tyr) c.637C>T (p.His213Tyr) | |
1 | g.21570309_21570314del | CA2586964044 | ALPL | c.797_802del (p.Ser266_His267del) c.7_12del c.566_571del (p.Ser189_His190del) c.632_637del (p.Ser211_His212del) c.641_646del (p.Ser214_His215del) | |
1 | g.21570306A>C | CA338879844 | ALPL | c.794A>C (p.His265Pro) c.4A>C c.563A>C (p.His188Pro) c.629A>C (p.His210Pro) c.638A>C (p.His213Pro) | |
1 | g.21570306A>G | CA338879846 | ALPL | c.794A>G (p.His265Arg) c.4A>G c.563A>G (p.His188Arg) c.629A>G (p.His210Arg) c.638A>G (p.His213Arg) | |
1 | g.21570306A>T | CA338879848 | ALPL | c.794A>T (p.His265Leu) c.4A>T c.563A>T (p.His188Leu) c.629A>T (p.His210Leu) c.638A>T (p.His213Leu) | |
1 | g.21570307C>A | CA338879849 | ALPL | c.795C>A (p.His265Gln) c.5C>A c.564C>A (p.His188Gln) c.630C>A (p.His210Gln) c.639C>A (p.His213Gln) | |
1 | g.21570307C= | CA1158016955 | ALPL | c.795C= (p.His265=) c.5C= c.564C= (p.His188=) c.630C= (p.His210=) c.639C= (p.His213=) | |
1 | g.21570307C>G | CA338879851 | ALPL | c.795C>G (p.His265Gln) c.5C>G c.564C>G (p.His188Gln) c.630C>G (p.His210Gln) c.639C>G (p.His213Gln) | |
1 | g.21570307C>T | CA416530857 | ALPL | c.795C>T (p.His265=) c.5C>T c.564C>T (p.His188=) c.630C>T (p.His210=) c.639C>T (p.His213=) | ClinVar dbSNP |
1 | g.21570308T>A | CA338879853 | ALPL | c.796T>A (p.Ser266Thr) c.6T>A c.565T>A (p.Ser189Thr) c.631T>A (p.Ser211Thr) c.640T>A (p.Ser214Thr) | |
1 | g.21570308T>C | CA338879855 | ALPL | c.796T>C (p.Ser266Pro) c.6T>C c.565T>C (p.Ser189Pro) c.631T>C (p.Ser211Pro) c.640T>C (p.Ser214Pro) | |
1 | g.21570308T>G | CA338879857 | ALPL | c.796T>G (p.Ser266Ala) c.6T>G c.565T>G (p.Ser189Ala) c.631T>G (p.Ser211Ala) c.640T>G (p.Ser214Ala) | |
1 | g.21570309C>A | CA338879858 | ALPL | c.797C>A (p.Ser266Tyr) c.7C>A c.566C>A (p.Ser189Tyr) c.632C>A (p.Ser211Tyr) c.641C>A (p.Ser214Tyr) | gnomAD v4 |
1 | g.21570309C>G | CA338879860 | ALPL | c.797C>G (p.Ser266Cys) c.7C>G c.566C>G (p.Ser189Cys) c.632C>G (p.Ser211Cys) c.641C>G (p.Ser214Cys) | gnomAD v4 |
1 | g.21570309C>T | CA338879861 | ALPL | c.797C>T (p.Ser266Phe) c.7C>T c.566C>T (p.Ser189Phe) c.632C>T (p.Ser211Phe) c.641C>T (p.Ser214Phe) | gnomAD v4 |
1 | g.21570311del | CA2580061447 | ALPL | c.799del (p.His267ThrfsTer10) c.9del c.568del (p.His190ThrfsTer10) c.634del (p.His212ThrfsTer10) c.643del (p.His215ThrfsTer10) | ClinVar |
1 | g.21570310C>A | CA416530864 | ALPL | c.798C>A (p.Ser266=) c.8C>A c.567C>A (p.Ser189=) c.633C>A (p.Ser211=) c.642C>A (p.Ser214=) | |
1 | g.21570310C= | CA1158016956 | ALPL | c.798C= (p.Ser266=) c.8C= c.567C= (p.Ser189=) c.633C= (p.Ser211=) c.642C= (p.Ser214=) | |
1 | g.21570310C>G | CA416530868 | ALPL | c.798C>G (p.Ser266=) c.8C>G c.567C>G (p.Ser189=) c.633C>G (p.Ser211=) c.642C>G (p.Ser214=) | |
1 | g.21570310C>T | CA416530866 | ALPL | c.798C>T (p.Ser266=) c.8C>T c.567C>T (p.Ser189=) c.633C>T (p.Ser211=) c.642C>T (p.Ser214=) | dbSNP |
1 | g.21570311_21570316del | CA2586964045 | ALPL | c.799_804del (p.His267_Phe268del) c.9_14del c.568_573del (p.His190_Phe191del) c.634_639del (p.His212_Phe213del) c.643_648del (p.His215_Phe216del) | gnomAD v4 |
1 | g.21570311C>A | CA338879865 | ALPL | c.799C>A (p.His267Asn) c.9C>A c.568C>A (p.His190Asn) c.634C>A (p.His212Asn) c.643C>A (p.His215Asn) | |
1 | g.21570311C>G | CA338879866 | ALPL | c.799C>G (p.His267Asp) c.9C>G c.568C>G (p.His190Asp) c.634C>G (p.His212Asp) c.643C>G (p.His215Asp) | |
1 | g.21570311C>T | CA338879863 | ALPL | c.799C>T (p.His267Tyr) c.9C>T c.568C>T (p.His190Tyr) c.634C>T (p.His212Tyr) c.643C>T (p.His215Tyr) | gnomAD v4 |
1 | g.21570312A= | CA1158016957 | ALPL | c.800A= (p.His267=) c.10A= c.569A= (p.His190=) c.635A= (p.His212=) c.644A= (p.His215=) | |
1 | g.21570312A>C | CA338879868 | ALPL | c.800A>C (p.His267Pro) c.10A>C c.569A>C (p.His190Pro) c.635A>C (p.His212Pro) c.644A>C (p.His215Pro) | |
1 | g.21570312A>G | CA338879869 | ALPL | c.800A>G (p.His267Arg) c.10A>G c.569A>G (p.His190Arg) c.635A>G (p.His212Arg) c.644A>G (p.His215Arg) | dbSNP |
1 | g.21570312A>T | CA338879871 | ALPL | c.800A>T (p.His267Leu) c.10A>T c.569A>T (p.His190Leu) c.635A>T (p.His212Leu) c.644A>T (p.His215Leu) | |
1 | g.21570313C>A | CA338879873 | ALPL | c.801C>A (p.His267Gln) c.11C>A c.570C>A (p.His190Gln) c.636C>A (p.His212Gln) c.645C>A (p.His215Gln) | |
1 | g.21570313C>G | CA338879875 | ALPL | c.801C>G (p.His267Gln) c.11C>G c.570C>G (p.His190Gln) c.636C>G (p.His212Gln) c.645C>G (p.His215Gln) | |
1 | g.21570313C>T | CA416530873 | ALPL | c.801C>T (p.His267=) c.11C>T c.570C>T (p.His190=) c.636C>T (p.His212=) c.645C>T (p.His215=) | |
1 | g.21570314T>A | CA338879876 | ALPL | c.802T>A (p.Phe268Ile) c.12T>A c.571T>A (p.Phe191Ile) c.637T>A (p.Phe213Ile) c.646T>A (p.Phe216Ile) | |
1 | g.21570314T>C | CA666624 | ALPL | c.802T>C (p.Phe268Leu) c.12T>C c.571T>C (p.Phe191Leu) c.637T>C (p.Phe213Leu) c.646T>C (p.Phe216Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570314T>G | CA338879878 | ALPL | c.802T>G (p.Phe268Val) c.12T>G c.571T>G (p.Phe191Val) c.637T>G (p.Phe213Val) c.646T>G (p.Phe216Val) | |
1 | g.21570314T= | CA1158016958 | ALPL | c.802T= (p.Phe268=) c.12T= c.571T= (p.Phe191=) c.637T= (p.Phe213=) c.646T= (p.Phe216=) | |
1 | g.21570315T>A | CA338879880 | ALPL | c.803T>A (p.Phe268Tyr) c.13T>A c.572T>A (p.Phe191Tyr) c.638T>A (p.Phe213Tyr) c.647T>A (p.Phe216Tyr) | |
1 | g.21570315T>C | CA338879882 | ALPL | c.803T>C (p.Phe268Ser) c.13T>C c.572T>C (p.Phe191Ser) c.638T>C (p.Phe213Ser) c.647T>C (p.Phe216Ser) | |
1 | g.21570315T>G | CA338879883 | ALPL | c.803T>G (p.Phe268Cys) c.13T>G c.572T>G (p.Phe191Cys) c.638T>G (p.Phe213Cys) c.647T>G (p.Phe216Cys) | ClinVar |
1 | g.21570316C>A | CA338879884 | ALPL | c.804C>A (p.Phe268Leu) c.14C>A c.573C>A (p.Phe191Leu) c.639C>A (p.Phe213Leu) c.648C>A (p.Phe216Leu) | |
1 | g.21570316C>G | CA338879885 | ALPL | c.804C>G (p.Phe268Leu) c.14C>G c.573C>G (p.Phe191Leu) c.639C>G (p.Phe213Leu) c.648C>G (p.Phe216Leu) | |
1 | g.21570316C>T | CA416530879 | ALPL | c.804C>T (p.Phe268=) c.14C>T c.573C>T (p.Phe191=) c.639C>T (p.Phe213=) c.648C>T (p.Phe216=) | |
1 | g.21570317A>C | CA338879890 | ALPL | c.805A>C (p.Ile269Leu) c.15A>C c.574A>C (p.Ile192Leu) c.640A>C (p.Ile214Leu) c.649A>C (p.Ile217Leu) | |
1 | g.21570317A>G | CA338879888 | ALPL | c.805A>G (p.Ile269Val) c.15A>G c.574A>G (p.Ile192Val) c.640A>G (p.Ile214Val) c.649A>G (p.Ile217Val) | |
1 | g.21570317A>T | CA338879887 | ALPL | c.805A>T (p.Ile269Phe) c.15A>T c.574A>T (p.Ile192Phe) c.640A>T (p.Ile214Phe) c.649A>T (p.Ile217Phe) | |
1 | g.21570318T>A | CA338879891 | ALPL | c.806T>A (p.Ile269Asn) c.16T>A c.575T>A (p.Ile192Asn) c.641T>A (p.Ile214Asn) c.650T>A (p.Ile217Asn) | |
1 | g.21570318T>C | CA338879893 | ALPL | c.806T>C (p.Ile269Thr) c.16T>C c.575T>C (p.Ile192Thr) c.641T>C (p.Ile214Thr) c.650T>C (p.Ile217Thr) | |
1 | g.21570318T>G | CA338879894 | ALPL | c.806T>G (p.Ile269Ser) c.16T>G c.575T>G (p.Ile192Ser) c.641T>G (p.Ile214Ser) c.650T>G (p.Ile217Ser) | |
1 | g.21570319C>A | CA416530885 | ALPL | c.807C>A (p.Ile269=) c.17C>A c.576C>A (p.Ile192=) c.642C>A (p.Ile214=) c.651C>A (p.Ile217=) | |
1 | g.21570319C>G | CA338879896 | ALPL | c.807C>G (p.Ile269Met) c.17C>G c.576C>G (p.Ile192Met) c.642C>G (p.Ile214Met) c.651C>G (p.Ile217Met) | |
1 | g.21570319C>T | CA416530887 | ALPL | c.807C>T (p.Ile269=) c.17C>T c.576C>T (p.Ile192=) c.642C>T (p.Ile214=) c.651C>T (p.Ile217=) | |
1 | g.21570320T>A | CA338879897 | ALPL | c.808T>A (p.Trp270Arg) c.18T>A c.577T>A (p.Trp193Arg) c.643T>A (p.Trp215Arg) c.652T>A (p.Trp218Arg) | |
1 | g.21570320T>C | CA338879899 | ALPL | c.808T>C (p.Trp270Arg) c.18T>C c.577T>C (p.Trp193Arg) c.643T>C (p.Trp215Arg) c.652T>C (p.Trp218Arg) | |
1 | g.21570320T>G | CA338879901 | ALPL | c.808T>G (p.Trp270Gly) c.18T>G c.577T>G (p.Trp193Gly) c.643T>G (p.Trp215Gly) c.652T>G (p.Trp218Gly) | |
1 | g.21570321G>A | CA274277 | ALPL | c.809G>A (p.Trp270Ter) c.19G>A c.578G>A (p.Trp193Ter) c.644G>A (p.Trp215Ter) c.653G>A (p.Trp218Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570321G>C | CA338879903 | ALPL | c.809G>C (p.Trp270Ser) c.19G>C c.578G>C (p.Trp193Ser) c.644G>C (p.Trp215Ser) c.653G>C (p.Trp218Ser) | |
1 | g.21570321G= | CA1158016959 | ALPL | c.809G= (p.Trp270=) c.19G= c.578G= (p.Trp193=) c.644G= (p.Trp215=) c.653G= (p.Trp218=) | |
1 | g.21570321G>T | CA338879904 | ALPL | c.809G>T (p.Trp270Leu) c.19G>T c.578G>T (p.Trp193Leu) c.644G>T (p.Trp215Leu) c.653G>T (p.Trp218Leu) | |
1 | g.21570322G>A | CA338879905 | ALPL | c.810G>A (p.Trp270Ter) c.20G>A c.579G>A (p.Trp193Ter) c.645G>A (p.Trp215Ter) c.654G>A (p.Trp218Ter) | ClinVar dbSNP |
1 | g.21570322G>C | CA338879906 | ALPL | c.810G>C (p.Trp270Cys) c.20G>C c.579G>C (p.Trp193Cys) c.645G>C (p.Trp215Cys) c.654G>C (p.Trp218Cys) | |
1 | g.21570322G= | CA1158016960 | ALPL | c.810G= (p.Trp270=) c.20G= c.579G= (p.Trp193=) c.645G= (p.Trp215=) c.654G= (p.Trp218=) | |
1 | g.21570322G>T | CA338879907 | ALPL | c.810G>T (p.Trp270Cys) c.20G>T c.579G>T (p.Trp193Cys) c.645G>T (p.Trp215Cys) c.654G>T (p.Trp218Cys) | |
1 | g.21570323A>C | CA338879910 | ALPL | c.811A>C (p.Asn271His) c.21A>C c.580A>C (p.Asn194His) c.646A>C (p.Asn216His) c.655A>C (p.Asn219His) | |
1 | g.21570323A>G | CA338879909 | ALPL | c.811A>G (p.Asn271Asp) c.21A>G c.580A>G (p.Asn194Asp) c.646A>G (p.Asn216Asp) c.655A>G (p.Asn219Asp) | |
1 | g.21570323A>T | CA338879908 | ALPL | c.811A>T (p.Asn271Tyr) c.21A>T c.580A>T (p.Asn194Tyr) c.646A>T (p.Asn216Tyr) c.655A>T (p.Asn219Tyr) | |
1 | g.21570324A>C | CA338879911 | ALPL | c.812A>C (p.Asn271Thr) c.22A>C c.581A>C (p.Asn194Thr) c.647A>C (p.Asn216Thr) c.656A>C (p.Asn219Thr) | |
1 | g.21570324A>G | CA338879913 | ALPL | c.812A>G (p.Asn271Ser) c.22A>G c.581A>G (p.Asn194Ser) c.647A>G (p.Asn216Ser) c.656A>G (p.Asn219Ser) | gnomAD v4 |
1 | g.21570324A>T | CA338879912 | ALPL | c.812A>T (p.Asn271Ile) c.22A>T c.581A>T (p.Asn194Ile) c.647A>T (p.Asn216Ile) c.656A>T (p.Asn219Ile) | |
1 | g.21570325C>A | CA338879914 | ALPL | c.813C>A (p.Asn271Lys) c.23C>A c.582C>A (p.Asn194Lys) c.648C>A (p.Asn216Lys) c.657C>A (p.Asn219Lys) | |
1 | g.21570325C>G | CA338879915 | ALPL | c.813C>G (p.Asn271Lys) c.23C>G c.582C>G (p.Asn194Lys) c.648C>G (p.Asn216Lys) c.657C>G (p.Asn219Lys) | |
1 | g.21570325C>T | CA416530896 | ALPL | c.813C>T (p.Asn271=) c.23C>T c.582C>T (p.Asn194=) c.648C>T (p.Asn216=) c.657C>T (p.Asn219=) | ClinVar gnomAD v4 |
1 | g.21570326del | CA2574253164 | ALPL | c.814del (p.Arg272AlafsTer5) c.24del c.583del (p.Arg195AlafsTer5) c.649del (p.Arg217AlafsTer5) c.658del (p.Arg220AlafsTer5) | ClinVar gnomAD v4 |
1 | g.21570326C>A | CA338879916 | ALPL | c.814C>A (p.Arg272Ser) c.24C>A c.583C>A (p.Arg195Ser) c.649C>A (p.Arg217Ser) c.658C>A (p.Arg220Ser) | dbSNP gnomAD v4 |
1 | g.21570326C= | CA1141580642 | ALPL | c.814C= (p.Arg272=) c.24C= c.583C= (p.Arg195=) c.649C= (p.Arg217=) c.658C= (p.Arg220=) | |
1 | g.21570326C>G | CA338879917 | ALPL | c.814C>G (p.Arg272Gly) c.24C>G c.583C>G (p.Arg195Gly) c.649C>G (p.Arg217Gly) c.658C>G (p.Arg220Gly) | |
1 | g.21570326C>T | CA256936 | ALPL | c.814C>T (p.Arg272Cys) c.24C>T c.583C>T (p.Arg195Cys) c.649C>T (p.Arg217Cys) c.658C>T (p.Arg220Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570327G>A | CA666626 | ALPL | c.815G>A (p.Arg272His) c.25G>A c.584G>A (p.Arg195His) c.650G>A (p.Arg217His) c.659G>A (p.Arg220His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21570327G>C | CA338879918 | ALPL | c.815G>C (p.Arg272Pro) c.25G>C c.584G>C (p.Arg195Pro) c.650G>C (p.Arg217Pro) c.659G>C (p.Arg220Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570327G= | CA1158016961 | ALPL | c.815G= (p.Arg272=) c.25G= c.584G= (p.Arg195=) c.650G= (p.Arg217=) c.659G= (p.Arg220=) | |
1 | g.21570327G>T | CA666625 | ALPL | c.815G>T (p.Arg272Leu) c.25G>T c.584G>T (p.Arg195Leu) c.650G>T (p.Arg217Leu) c.659G>T (p.Arg220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570328C>A | CA416530902 | ALPL | c.816C>A (p.Arg272=) c.26C>A c.585C>A (p.Arg195=) c.651C>A (p.Arg217=) c.660C>A (p.Arg220=) | |
1 | g.21570328C>G | CA416530904 | ALPL | c.816C>G (p.Arg272=) c.26C>G c.585C>G (p.Arg195=) c.651C>G (p.Arg217=) c.660C>G (p.Arg220=) | |
1 | g.21570328C>T | CA416530906 | ALPL | c.816C>T (p.Arg272=) c.26C>T c.585C>T (p.Arg195=) c.651C>T (p.Arg217=) c.660C>T (p.Arg220=) | |
1 | g.21570329A= | CA1158016962 | ALPL | c.817A= (p.Thr273=) c.27A= c.586A= (p.Thr196=) c.652A= (p.Thr218=) c.661A= (p.Thr221=) | |
1 | g.21570329A>C | CA338879919 | ALPL | c.817A>C (p.Thr273Pro) c.27A>C c.586A>C (p.Thr196Pro) c.652A>C (p.Thr218Pro) c.661A>C (p.Thr221Pro) | dbSNP gnomAD v4 |
1 | g.21570329A>G | CA338879921 | ALPL | c.817A>G (p.Thr273Ala) c.27A>G c.586A>G (p.Thr196Ala) c.652A>G (p.Thr218Ala) c.661A>G (p.Thr221Ala) | |
1 | g.21570329A>T | CA338879920 | ALPL | c.817A>T (p.Thr273Ser) c.27A>T c.586A>T (p.Thr196Ser) c.652A>T (p.Thr218Ser) c.661A>T (p.Thr221Ser) | |
1 | g.21570330C>A | CA338879922 | ALPL | c.818C>A (p.Thr273Lys) c.28C>A c.587C>A (p.Thr196Lys) c.653C>A (p.Thr218Lys) c.662C>A (p.Thr221Lys) | |
1 | g.21570330C= | CA1142237806 | ALPL | c.818C= (p.Thr273=) c.28C= c.587C= (p.Thr196=) c.653C= (p.Thr218=) c.662C= (p.Thr221=) | |
1 | g.21570330C>G | CA338879923 | ALPL | c.818C>G (p.Thr273Arg) c.28C>G c.587C>G (p.Thr196Arg) c.653C>G (p.Thr218Arg) c.662C>G (p.Thr221Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570330C>T | CA666627 | ALPL | c.818C>T (p.Thr273Met) c.28C>T c.587C>T (p.Thr196Met) c.653C>T (p.Thr218Met) c.662C>T (p.Thr221Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570331G>A | CA666628 | ALPL | c.819G>A (p.Thr273=) c.29G>A c.588G>A (p.Thr196=) c.654G>A (p.Thr218=) c.663G>A (p.Thr221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570331G>C | CA416530912 | ALPL | c.819G>C (p.Thr273=) c.29G>C c.588G>C (p.Thr196=) c.654G>C (p.Thr218=) c.663G>C (p.Thr221=) | |
1 | g.21570331G= | CA1143848998 | ALPL | c.819G= (p.Thr273=) c.29G= c.588G= (p.Thr196=) c.654G= (p.Thr218=) c.663G= (p.Thr221=) | |
1 | g.21570331G>T | CA416530914 | ALPL | c.819G>T (p.Thr273=) c.29G>T c.588G>T (p.Thr196=) c.654G>T (p.Thr218=) c.663G>T (p.Thr221=) | dbSNP |
1 | g.21570332G>A | CA338879924 | ALPL | c.820G>A (p.Glu274Lys) c.30G>A c.589G>A (p.Glu197Lys) c.655G>A (p.Glu219Lys) c.664G>A (p.Glu222Lys) | gnomAD v4 COSMIC |
1 | g.21570332G>C | CA338879925 | ALPL | c.820G>C (p.Glu274Gln) c.30G>C c.589G>C (p.Glu197Gln) c.655G>C (p.Glu219Gln) c.664G>C (p.Glu222Gln) | |
1 | g.21570332G>T | CA338879926 | ALPL | c.820G>T (p.Glu274Ter) c.30G>T c.589G>T (p.Glu197Ter) c.655G>T (p.Glu219Ter) c.664G>T (p.Glu222Ter) | |
1 | g.21570332_21570333delinsGA | CA1158016963 | ALPL | c.820_821delinsGA (p.Glu274=) c.30_31delinsGA c.589_590delinsGA (p.Glu197=) c.655_656delinsGA (p.Glu219=) c.664_665delinsGA (p.Glu222=) | |
1 | g.21570333A>C | CA338879927 | ALPL | c.821A>C (p.Glu274Ala) c.31A>C c.590A>C (p.Glu197Ala) c.656A>C (p.Glu219Ala) c.665A>C (p.Glu222Ala) | |
1 | g.21570333A>G | CA338879928 | ALPL | c.821A>G (p.Glu274Gly) c.31A>G c.590A>G (p.Glu197Gly) c.656A>G (p.Glu219Gly) c.665A>G (p.Glu222Gly) | |
1 | g.21570333A>T | CA338879929 | ALPL | c.821A>T (p.Glu274Val) c.31A>T c.590A>T (p.Glu197Val) c.656A>T (p.Glu219Val) c.665A>T (p.Glu222Val) | |
1 | g.21570334del | CA666629 | ALPL | c.822del (p.Glu274AspfsTer3) c.32del c.591del (p.Glu197AspfsTer3) c.657del (p.Glu219AspfsTer3) c.666del (p.Glu222AspfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570334A>C | CA338879930 | ALPL | c.822A>C (p.Glu274Asp) c.32A>C c.591A>C (p.Glu197Asp) c.657A>C (p.Glu219Asp) c.666A>C (p.Glu222Asp) | |
1 | g.21570334A>G | CA416530922 | ALPL | c.822A>G (p.Glu274=) c.32A>G c.591A>G (p.Glu197=) c.657A>G (p.Glu219=) c.666A>G (p.Glu222=) | |
1 | g.21570334A>T | CA338879931 | ALPL | c.822A>T (p.Glu274Asp) c.32A>T c.591A>T (p.Glu197Asp) c.657A>T (p.Glu219Asp) c.666A>T (p.Glu222Asp) | ClinVar |
1 | g.21570334_21570335del | CA2697552245 | ALPL | c.822_823del (p.Glu274AspfsTer5) c.32_33del c.591_592del (p.Glu197AspfsTer5) c.657_658del (p.Glu219AspfsTer5) c.666_667del (p.Glu222AspfsTer5) | ClinVar |
1 | g.21570335C>A | CA338879933 | ALPL | c.823C>A (p.Leu275Ile) c.33C>A c.592C>A (p.Leu198Ile) c.658C>A (p.Leu220Ile) c.667C>A (p.Leu223Ile) | |
1 | g.21570335C= | CA1149135273 | ALPL | c.823C= (p.Leu275=) c.33C= c.592C= (p.Leu198=) c.658C= (p.Leu220=) c.667C= (p.Leu223=) | |
1 | g.21570335C>G | CA666630 | ALPL | c.823C>G (p.Leu275Val) c.33C>G c.592C>G (p.Leu198Val) c.658C>G (p.Leu220Val) c.667C>G (p.Leu223Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570335C>T | CA338879932 | ALPL | c.823C>T (p.Leu275Phe) c.33C>T c.592C>T (p.Leu198Phe) c.658C>T (p.Leu220Phe) c.667C>T (p.Leu223Phe) | ClinVar gnomAD v4 |
1 | g.21570336T>A | CA338879934 | ALPL | c.824T>A (p.Leu275His) c.34T>A c.593T>A (p.Leu198His) c.659T>A (p.Leu220His) c.668T>A (p.Leu223His) | |
1 | g.21570336T>C | CA338879935 | ALPL | c.824T>C (p.Leu275Pro) c.34T>C c.593T>C (p.Leu198Pro) c.659T>C (p.Leu220Pro) c.668T>C (p.Leu223Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570336T>G | CA338879936 | ALPL | c.824T>G (p.Leu275Arg) c.34T>G c.593T>G (p.Leu198Arg) c.659T>G (p.Leu220Arg) c.668T>G (p.Leu223Arg) | |
1 | g.21570336T= | CA1158016964 | ALPL | c.824T= (p.Leu275=) c.34T= c.593T= (p.Leu198=) c.659T= (p.Leu220=) c.668T= (p.Leu223=) | |
1 | g.21570337C>A | CA416530928 | ALPL | c.825C>A (p.Leu275=) c.35C>A c.594C>A (p.Leu198=) c.660C>A (p.Leu220=) c.669C>A (p.Leu223=) | |
1 | g.21570337C>G | CA416530930 | ALPL | c.825C>G (p.Leu275=) c.35C>G c.594C>G (p.Leu198=) c.660C>G (p.Leu220=) c.669C>G (p.Leu223=) | |
1 | g.21570337C>T | CA416530932 | ALPL | c.825C>T (p.Leu275=) c.35C>T c.594C>T (p.Leu198=) c.660C>T (p.Leu220=) c.669C>T (p.Leu223=) | |
1 | g.21570338C>A | CA338879937 | ALPL | c.826C>A (p.Leu276Met) c.36C>A c.595C>A (p.Leu199Met) c.661C>A (p.Leu221Met) c.670C>A (p.Leu224Met) | |
1 | g.21570338C= | CA1158016965 | ALPL | c.826C= (p.Leu276=) c.36C= c.595C= (p.Leu199=) c.661C= (p.Leu221=) c.670C= (p.Leu224=) | |
1 | g.21570338C>G | CA338879938 | ALPL | c.826C>G (p.Leu276Val) c.36C>G c.595C>G (p.Leu199Val) c.661C>G (p.Leu221Val) c.670C>G (p.Leu224Val) | gnomAD v4 |
1 | g.21570338C>T | CA416530934 | ALPL | c.826C>T (p.Leu276=) c.36C>T c.595C>T (p.Leu199=) c.661C>T (p.Leu221=) c.670C>T (p.Leu224=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570339T>A | CA338879939 | ALPL | c.827T>A (p.Leu276Gln) c.37T>A c.596T>A (p.Leu199Gln) c.662T>A (p.Leu221Gln) c.671T>A (p.Leu224Gln) | |
1 | g.21570339T>C | CA338879940 | ALPL | c.827T>C (p.Leu276Pro) c.37T>C c.596T>C (p.Leu199Pro) c.662T>C (p.Leu221Pro) c.671T>C (p.Leu224Pro) | ClinVar dbSNP |
1 | g.21570339T>G | CA338879941 | ALPL | c.827T>G (p.Leu276Arg) c.37T>G c.596T>G (p.Leu199Arg) c.662T>G (p.Leu221Arg) c.671T>G (p.Leu224Arg) | |
1 | g.21570339T= | CA1158016966 | ALPL | c.827T= (p.Leu276=) c.37T= c.596T= (p.Leu199=) c.662T= (p.Leu221=) c.671T= (p.Leu224=) | |
1 | g.21570340G>A | CA416530940 | ALPL | c.828G>A (p.Leu276=) c.38G>A c.597G>A (p.Leu199=) c.663G>A (p.Leu221=) c.672G>A (p.Leu224=) | |
1 | g.21570340G>C | CA416530939 | ALPL | c.828G>C (p.Leu276=) c.38G>C c.597G>C (p.Leu199=) c.663G>C (p.Leu221=) c.672G>C (p.Leu224=) | |
1 | g.21570340G>T | CA416530942 | ALPL | c.828G>T (p.Leu276=) c.38G>T c.597G>T (p.Leu199=) c.663G>T (p.Leu221=) c.672G>T (p.Leu224=) | |
1 | g.21570341A>C | CA338879942 | ALPL | c.829A>C (p.Thr277Pro) c.39A>C c.598A>C (p.Thr200Pro) c.664A>C (p.Thr222Pro) c.673A>C (p.Thr225Pro) | |
1 | g.21570341A>G | CA338879943 | ALPL | c.829A>G (p.Thr277Ala) c.39A>G c.598A>G (p.Thr200Ala) c.664A>G (p.Thr222Ala) c.673A>G (p.Thr225Ala) | |
1 | g.21570341A>T | CA338879944 | ALPL | c.829A>T (p.Thr277Ser) c.39A>T c.598A>T (p.Thr200Ser) c.664A>T (p.Thr222Ser) c.673A>T (p.Thr225Ser) | |
1 | g.21570342C>A | CA338879947 | ALPL | c.830C>A (p.Thr277Asn) c.40C>A c.599C>A (p.Thr200Asn) c.665C>A (p.Thr222Asn) c.674C>A (p.Thr225Asn) | |
1 | g.21570342C>G | CA338879946 | ALPL | c.830C>G (p.Thr277Ser) c.40C>G c.599C>G (p.Thr200Ser) c.665C>G (p.Thr222Ser) c.674C>G (p.Thr225Ser) | |
1 | g.21570342C>T | CA338879945 | ALPL | c.830C>T (p.Thr277Ile) c.40C>T c.599C>T (p.Thr200Ile) c.665C>T (p.Thr222Ile) c.674C>T (p.Thr225Ile) | gnomAD v3 gnomAD v4 |
1 | g.21570343C>A | CA416530950 | ALPL | c.831C>A (p.Thr277=) c.41C>A c.600C>A (p.Thr200=) c.666C>A (p.Thr222=) c.675C>A (p.Thr225=) | ClinVar dbSNP gnomAD v2 |
1 | g.21570343C= | CA1158016967 | ALPL | c.831C= (p.Thr277=) c.41C= c.600C= (p.Thr200=) c.666C= (p.Thr222=) c.675C= (p.Thr225=) | |
1 | g.21570343C>G | CA416530952 | ALPL | c.831C>G (p.Thr277=) c.41C>G c.600C>G (p.Thr200=) c.666C>G (p.Thr222=) c.675C>G (p.Thr225=) | ClinVar dbSNP |
1 | g.21570343C>T | CA416530948 | ALPL | c.831C>T (p.Thr277=) c.41C>T c.600C>T (p.Thr200=) c.666C>T (p.Thr222=) c.675C>T (p.Thr225=) | ClinVar dbSNP gnomAD v4 |
1 | g.21570344C>A | CA338879948 | ALPL | c.832C>A (p.Leu278Ile) c.42C>A c.601C>A (p.Leu201Ile) c.667C>A (p.Leu223Ile) c.676C>A (p.Leu226Ile) | |
1 | g.21570344C>G | CA338879949 | ALPL | c.832C>G (p.Leu278Val) c.42C>G c.601C>G (p.Leu201Val) c.667C>G (p.Leu223Val) c.676C>G (p.Leu226Val) | gnomAD v4 |
1 | g.21570344C>T | CA338879950 | ALPL | c.832C>T (p.Leu278Phe) c.42C>T c.601C>T (p.Leu201Phe) c.667C>T (p.Leu223Phe) c.676C>T (p.Leu226Phe) | |
1 | g.21570345T>A | CA338879951 | ALPL | c.833T>A (p.Leu278His) c.43T>A c.602T>A (p.Leu201His) c.668T>A (p.Leu223His) c.677T>A (p.Leu226His) | gnomAD v4 |
1 | g.21570345T>C | CA338879952 | ALPL | c.833T>C (p.Leu278Pro) c.43T>C c.602T>C (p.Leu201Pro) c.668T>C (p.Leu223Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
1 | g.21570345T>G | CA338879953 | ALPL | c.833T>G (p.Leu278Arg) c.43T>G c.602T>G (p.Leu201Arg) c.668T>G (p.Leu223Arg) c.677T>G (p.Leu226Arg) | |
1 | g.21570346T>A | CA416530961 | ALPL | c.834T>A (p.Leu278=) c.44T>A c.603T>A (p.Leu201=) c.669T>A (p.Leu223=) c.678T>A (p.Leu226=) | |
1 | g.21570346T>C | CA416530957 | ALPL | c.834T>C (p.Leu278=) c.44T>C c.603T>C (p.Leu201=) c.669T>C (p.Leu223=) c.678T>C (p.Leu226=) | |
1 | g.21570346T>G | CA416530959 | ALPL | c.834T>G (p.Leu278=) c.44T>G c.603T>G (p.Leu201=) c.669T>G (p.Leu223=) c.678T>G (p.Leu226=) | |
1 | g.21570347G>A | CA338879954 | ALPL | c.835G>A (p.Asp279Asn) c.45G>A c.604G>A (p.Asp202Asn) c.670G>A (p.Asp224Asn) c.679G>A (p.Asp227Asn) | |
1 | g.21570347G>C | CA338879955 | ALPL | c.835G>C (p.Asp279His) c.45G>C c.604G>C (p.Asp202His) c.670G>C (p.Asp224His) c.679G>C (p.Asp227His) | dbSNP gnomAD v2 |
1 | g.21570347G= | CA1158016968 | ALPL | c.835G= (p.Asp279=) c.45G= c.604G= (p.Asp202=) c.670G= (p.Asp224=) c.679G= (p.Asp227=) | |
1 | g.21570347G>T | CA338879956 | ALPL | c.835G>T (p.Asp279Tyr) c.45G>T c.604G>T (p.Asp202Tyr) c.670G>T (p.Asp224Tyr) c.679G>T (p.Asp227Tyr) |