UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21568046A= | CA1158016110 | ALPL | c.649-58A= (n.649-58A=) c.418-58A= (n.418-58A=) c.484-58A= (n.484-58A=) c.493-58A= (n.493-58A=) | |
| 1 | g.21568046A>C | CA1158016111 | ALPL | c.649-58A>C (n.649-58A>C) c.418-58A>C (n.418-58A>C) c.484-58A>C (n.484-58A>C) c.493-58A>C (n.493-58A>C) | dbSNP gnomAD v4 |
| 1 | g.21568046A>T | CA2643930763 | ALPL | c.649-58A>T (n.649-58A>T) c.418-58A>T (n.418-58A>T) c.484-58A>T (n.484-58A>T) c.493-58A>T (n.493-58A>T) | gnomAD v4 |
| 1 | g.21568047C>A | CA2742753733 | ALPL | c.649-57C>A (n.649-57C>A) c.418-57C>A (n.418-57C>A) c.484-57C>A (n.484-57C>A) c.493-57C>A (n.493-57C>A) | |
| 1 | g.21568047C= | CA1140829556 | ALPL | c.649-57C= (n.649-57C=) c.418-57C= (n.418-57C=) c.484-57C= (n.484-57C=) c.493-57C= (n.493-57C=) | |
| 1 | g.21568047C>G | CA19063256 | ALPL | c.649-57C>G (n.649-57C>G) c.418-57C>G (n.418-57C>G) c.484-57C>G (n.484-57C>G) c.493-57C>G (n.493-57C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568049G>A | CA2643930765 | ALPL | c.649-55G>A (n.649-55G>A) c.418-55G>A (n.418-55G>A) c.484-55G>A (n.484-55G>A) c.493-55G>A (n.493-55G>A) | gnomAD v4 |
| 1 | g.21568049G>T | CA2574253110 | ALPL | c.649-55G>T (n.649-55G>T) c.418-55G>T (n.418-55G>T) c.484-55G>T (n.484-55G>T) c.493-55G>T (n.493-55G>T) | |
| 1 | g.21568050G>T | CA2643930766 | ALPL | c.649-54G>T (n.649-54G>T) c.418-54G>T (n.418-54G>T) c.484-54G>T (n.484-54G>T) c.493-54G>T (n.493-54G>T) | gnomAD v4 |
| 1 | g.21568051G>A | CA2574253111 | ALPL | c.649-53G>A (n.649-53G>A) c.418-53G>A (n.418-53G>A) c.484-53G>A (n.484-53G>A) c.493-53G>A (n.493-53G>A) | gnomAD v4 |
| 1 | g.21568052G>A | CA521577200 | ALPL | c.649-52G>A (n.649-52G>A) c.418-52G>A (n.418-52G>A) c.484-52G>A (n.484-52G>A) c.493-52G>A (n.493-52G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568052G= | CA1158016112 | ALPL | c.649-52G= (n.649-52G=) c.418-52G= (n.418-52G=) c.484-52G= (n.484-52G=) c.493-52G= (n.493-52G=) | |
| 1 | g.21568054T>C | CA666558 | ALPL | c.649-50T>C (n.649-50T>C) c.418-50T>C (n.418-50T>C) c.484-50T>C (n.484-50T>C) c.493-50T>C (n.493-50T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568054T= | CA1158016113 | ALPL | c.649-50T= (n.649-50T=) c.418-50T= (n.418-50T=) c.484-50T= (n.484-50T=) c.493-50T= (n.493-50T=) | |
| 1 | g.21568056C>T | CA2695500424 | ALPL | c.649-48C>T (n.649-48C>T) c.418-48C>T (n.418-48C>T) c.484-48C>T (n.484-48C>T) c.493-48C>T (n.493-48C>T) | dbSNP |
| 1 | g.21568059G>T | CA645684321 | ALPL | c.649-45G>T (n.649-45G>T) c.418-45G>T (n.418-45G>T) c.484-45G>T (n.484-45G>T) c.493-45G>T (n.493-45G>T) | gnomAD v4 COSMIC |
| 1 | g.21568060G>A | CA1158016114 | ALPL | c.649-44G>A (n.649-44G>A) c.418-44G>A (n.418-44G>A) c.484-44G>A (n.484-44G>A) c.493-44G>A (n.493-44G>A) | dbSNP |
| 1 | g.21568060G= | CA1158016115 | ALPL | c.649-44G= (n.649-44G=) c.418-44G= (n.418-44G=) c.484-44G= (n.484-44G=) c.493-44G= (n.493-44G=) | |
| 1 | g.21568060G>T | CA666559 | ALPL | c.649-44G>T (n.649-44G>T) c.418-44G>T (n.418-44G>T) c.484-44G>T (n.484-44G>T) c.493-44G>T (n.493-44G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568061C>T | CA2643930767 | ALPL | c.649-43C>T (n.649-43C>T) c.418-43C>T (n.418-43C>T) c.484-43C>T (n.484-43C>T) c.493-43C>T (n.493-43C>T) | gnomAD v4 |
| 1 | g.21568062A= | CA1158016116 | ALPL | c.649-42A= (n.649-42A=) c.418-42A= (n.418-42A=) c.484-42A= (n.484-42A=) c.493-42A= (n.493-42A=) | |
| 1 | g.21568062A>G | CA666560 | ALPL | c.649-42A>G (n.649-42A>G) c.418-42A>G (n.418-42A>G) c.484-42A>G (n.484-42A>G) c.493-42A>G (n.493-42A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568063dup | CA2574253113 | ALPL | c.649-41dup (n.649-41dup) c.418-41dup (n.418-41dup) c.484-41dup (n.484-41dup) c.493-41dup (n.493-41dup) | |
| 1 | g.21568064C= | CA1158016117 | ALPL | c.649-40C= (n.649-40C=) c.418-40C= (n.418-40C=) c.484-40C= (n.484-40C=) c.493-40C= (n.493-40C=) | |
| 1 | g.21568064C>G | CA19063269 | ALPL | c.649-40C>G (n.649-40C>G) c.418-40C>G (n.418-40C>G) c.484-40C>G (n.484-40C>G) c.493-40C>G (n.493-40C>G) | dbSNP gnomAD v4 |
| 1 | g.21568066del | CA2643930768 | ALPL | c.649-38del (n.649-38del) c.418-38del (n.418-38del) c.484-38del (n.484-38del) c.493-38del (n.493-38del) | gnomAD v4 |
| 1 | g.21568067G>A | CA2742753735 | ALPL | c.649-37G>A (n.649-37G>A) c.418-37G>A (n.418-37G>A) c.484-37G>A (n.484-37G>A) c.493-37G>A (n.493-37G>A) | |
| 1 | g.21568069A= | CA1158016118 | ALPL | c.649-35A= (n.649-35A=) c.418-35A= (n.418-35A=) c.484-35A= (n.484-35A=) c.493-35A= (n.493-35A=) | |
| 1 | g.21568069A>T | CA666561 | ALPL | c.649-35A>T (n.649-35A>T) c.418-35A>T (n.418-35A>T) c.484-35A>T (n.484-35A>T) c.493-35A>T (n.493-35A>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.21568071C>T | CA2643930769 | ALPL | c.649-33C>T (n.649-33C>T) c.418-33C>T (n.418-33C>T) c.484-33C>T (n.484-33C>T) c.493-33C>T (n.493-33C>T) | gnomAD v4 |
| 1 | g.21568073C>G | CA2643930770 | ALPL | c.649-31C>G (n.649-31C>G) c.418-31C>G (n.418-31C>G) c.484-31C>G (n.484-31C>G) c.493-31C>G (n.493-31C>G) | gnomAD v4 |
| 1 | g.21568075_21568076delinsGC | CA1158016119 | ALPL | c.649-29_649-28delinsGC (n.649-29_649-28delinsGC) c.418-29_418-28delinsGC (n.418-29_418-28delinsGC) c.484-29_484-28delinsGC (n.484-29_484-28delinsGC) c.493-29_493-28delinsGC (n.493-29_493-28delinsGC) | |
| 1 | g.21568076del | CA666562 | ALPL | c.649-28del (n.649-28del) c.418-28del (n.418-28del) c.484-28del (n.484-28del) c.493-28del (n.493-28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568076C= | CA1158016120 | ALPL | c.649-28C= (n.649-28C=) c.418-28C= (n.418-28C=) c.484-28C= (n.484-28C=) c.493-28C= (n.493-28C=) | |
| 1 | g.21568076C>T | CA999407029 | ALPL | c.649-28C>T (n.649-28C>T) c.418-28C>T (n.418-28C>T) c.484-28C>T (n.484-28C>T) c.493-28C>T (n.493-28C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21568077A= | CA1158016121 | ALPL | c.649-27A= (n.649-27A=) c.418-27A= (n.418-27A=) c.484-27A= (n.484-27A=) c.493-27A= (n.493-27A=) | |
| 1 | g.21568077A>G | CA521577201 | ALPL | c.649-27A>G (n.649-27A>G) c.418-27A>G (n.418-27A>G) c.484-27A>G (n.484-27A>G) c.493-27A>G (n.493-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568079A>G | CA2574253115 | ALPL | c.649-25A>G (n.649-25A>G) c.418-25A>G (n.418-25A>G) c.484-25A>G (n.484-25A>G) c.493-25A>G (n.493-25A>G) | gnomAD v4 |
| 1 | g.21568081G>A | CA666563 | ALPL | c.649-23G>A (n.649-23G>A) c.418-23G>A (n.418-23G>A) c.484-23G>A (n.484-23G>A) c.493-23G>A (n.493-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568081G= | CA1158016122 | ALPL | c.649-23G= (n.649-23G=) c.418-23G= (n.418-23G=) c.484-23G= (n.484-23G=) c.493-23G= (n.493-23G=) | |
| 1 | g.21568083G>T | CA2594139765 | ALPL | c.649-21G>T (n.649-21G>T) c.418-21G>T (n.418-21G>T) c.484-21G>T (n.484-21G>T) c.493-21G>T (n.493-21G>T) | gnomAD v3 gnomAD v4 |
| 1 | g.21568084A= | CA1158016123 | ALPL | c.649-20A= (n.649-20A=) c.418-20A= (n.418-20A=) c.484-20A= (n.484-20A=) c.493-20A= (n.493-20A=) | |
| 1 | g.21568084A>T | CA1158016124 | ALPL | c.649-20A>T (n.649-20A>T) c.418-20A>T (n.418-20A>T) c.484-20A>T (n.484-20A>T) c.493-20A>T (n.493-20A>T) | dbSNP |
| 1 | g.21568088C>T | CA2695500508 | ALPL | c.649-16C>T (n.649-16C>T) c.418-16C>T (n.418-16C>T) c.484-16C>T (n.484-16C>T) c.493-16C>T (n.493-16C>T) | dbSNP |
| 1 | g.21568089T>A | CA2643930773 | ALPL | c.649-15T>A (n.649-15T>A) c.418-15T>A (n.418-15T>A) c.484-15T>A (n.484-15T>A) c.493-15T>A (n.493-15T>A) | gnomAD v4 |
| 1 | g.21568089T>G | CA666564 | ALPL | c.649-15T>G (n.649-15T>G) c.418-15T>G (n.418-15T>G) c.484-15T>G (n.484-15T>G) c.493-15T>G (n.493-15T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568089T= | CA1143851980 | ALPL | c.649-15T= (n.649-15T=) c.418-15T= (n.418-15T=) c.484-15T= (n.484-15T=) c.493-15T= (n.493-15T=) | |
| 1 | g.21568090C>G | CA645684322 | ALPL | c.649-14C>G (n.649-14C>G) c.418-14C>G (n.418-14C>G) c.484-14C>G (n.484-14C>G) c.493-14C>G (n.493-14C>G) | COSMIC |
| 1 | g.21568090C>T | CA2643930774 | ALPL | c.649-14C>T (n.649-14C>T) c.418-14C>T (n.418-14C>T) c.484-14C>T (n.484-14C>T) c.493-14C>T (n.493-14C>T) | ClinVar gnomAD v4 |
| 1 | g.21568092del | CA2742753737 | ALPL | c.649-12del (n.649-12del) c.418-12del (n.418-12del) c.484-12del (n.484-12del) c.493-12del (n.493-12del) | |
| 1 | g.21568093G>A | CA731318750 | ALPL | c.649-11G>A (n.649-11G>A) c.418-11G>A (n.418-11G>A) c.484-11G>A (n.484-11G>A) c.493-11G>A (n.493-11G>A) | dbSNP gnomAD v4 |
| 1 | g.21568093G>C | CA666565 | ALPL | c.649-11G>C (n.649-11G>C) c.418-11G>C (n.418-11G>C) c.484-11G>C (n.484-11G>C) c.493-11G>C (n.493-11G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568093G= | CA1144134554 | ALPL | c.649-11G= (n.649-11G=) c.418-11G= (n.418-11G=) c.484-11G= (n.484-11G=) c.493-11G= (n.493-11G=) | |
| 1 | g.21568094T>A | CA2574253119 | ALPL | c.649-10T>A (n.649-10T>A) c.418-10T>A (n.418-10T>A) c.484-10T>A (n.484-10T>A) c.493-10T>A (n.493-10T>A) | ClinVar |
| 1 | g.21568096del | CA2499214452 | ALPL | c.649-8del (n.649-8del) c.418-8del (n.418-8del) c.484-8del (n.484-8del) c.493-8del (n.493-8del) | ClinVar dbSNP |
| 1 | g.21568096T>C | CA2580061473 | ALPL | c.649-8T>C (n.649-8T>C) c.418-8T>C (n.418-8T>C) c.484-8T>C (n.484-8T>C) c.493-8T>C (n.493-8T>C) | ClinVar |
| 1 | g.21568098T>C | CA2643930775 | ALPL | c.649-6T>C (n.649-6T>C) c.418-6T>C (n.418-6T>C) c.484-6T>C (n.484-6T>C) c.493-6T>C (n.493-6T>C) | gnomAD v4 |
| 1 | g.21568100_21568101del | CA2739272371 | ALPL | c.649-4_649-3del (n.649-4_649-3del) c.418-4_418-3del (n.418-4_418-3del) c.484-4_484-3del (n.484-4_484-3del) c.493-4_493-3del (n.493-4_493-3del) | ClinVar |
| 1 | g.21568100T>G | CA2574253120 | ALPL | c.649-4T>G (n.649-4T>G) c.418-4T>G (n.418-4T>G) c.484-4T>G (n.484-4T>G) c.493-4T>G (n.493-4T>G) | ClinVar gnomAD v4 |
| 1 | g.21568101T>C | CA2580061474 | ALPL | c.649-3T>C (n.649-3T>C) c.418-3T>C (n.418-3T>C) c.484-3T>C (n.484-3T>C) c.493-3T>C (n.493-3T>C) | ClinVar |
| 1 | g.21568101_21568103delinsAA | CA2586964039 | ALPL | c.649-3_649-1delinsAA (n.649-3_649-1delinsAA) c.418-3_418-1delinsAA (n.418-3_418-1delinsAA) c.484-3_484-1delinsAA (n.484-3_484-1delinsAA) c.493-3_493-1delinsAA (n.493-3_493-1delinsAA) | |
| 1 | g.21568102A>C | CA338878997 | ALPL | c.649-2A>C (n.649-2A>C) c.418-2A>C (n.418-2A>C) c.484-2A>C (n.484-2A>C) c.493-2A>C (n.493-2A>C) | |
| 1 | g.21568102A>G | CA338878995 | ALPL | c.649-2A>G (n.649-2A>G) c.418-2A>G (n.418-2A>G) c.484-2A>G (n.484-2A>G) c.493-2A>G (n.493-2A>G) | |
| 1 | g.21568102A>T | CA338878993 | ALPL | c.649-2A>T (n.649-2A>T) c.418-2A>T (n.418-2A>T) c.484-2A>T (n.484-2A>T) c.493-2A>T (n.493-2A>T) | |
| 1 | g.21568103G>A | CA338878999 | ALPL | c.649-1G>A (n.649-1G>A) c.418-1G>A (n.418-1G>A) c.484-1G>A (n.484-1G>A) c.493-1G>A (n.493-1G>A) | ClinVar dbSNP |
| 1 | g.21568103G>C | CA338879000 | ALPL | c.649-1G>C (n.649-1G>C) c.418-1G>C (n.418-1G>C) c.484-1G>C (n.484-1G>C) c.493-1G>C (n.493-1G>C) | gnomAD v4 |
| 1 | g.21568103G>T | CA338879002 | ALPL | c.649-1G>T (n.649-1G>T) c.418-1G>T (n.418-1G>T) c.484-1G>T (n.484-1G>T) c.493-1G>T (n.493-1G>T) | |
| 1 | g.21568104G>A | CA338879003 | ALPL | c.649G>A (p.Val217Met) c.418G>A (p.Val140Met) c.484G>A (p.Val162Met) c.493G>A (p.Val165Met) | dbSNP |
| 1 | g.21568104G>C | CA338879005 | ALPL | c.649G>C (p.Val217Leu) c.418G>C (p.Val140Leu) c.484G>C (p.Val162Leu) c.493G>C (p.Val165Leu) | |
| 1 | g.21568104G= | CA1158016125 | ALPL | c.649G= (p.Val217=) c.418G= (p.Val140=) c.484G= (p.Val162=) c.493G= (p.Val165=) | |
| 1 | g.21568104G>T | CA338879007 | ALPL | c.649G>T (p.Val217Leu) c.418G>T (p.Val140Leu) c.484G>T (p.Val162Leu) c.493G>T (p.Val165Leu) | |
| 1 | g.21568104_21568105delinsGT | CA1158016126 | ALPL | c.649_650delinsGT (p.Val217=) c.418_419delinsGT (p.Val140=) c.484_485delinsGT (p.Val162=) c.493_494delinsGT (p.Val165=) | |
| 1 | g.21568104_21568105insC | CA666566 | ALPL | c.649_650insC (p.Val217AlafsTer15) c.418_419insC (p.Val140AlafsTer15) c.484_485insC (p.Val162AlafsTer15) c.493_494insC (p.Val165AlafsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568104_21568105insCTA | CA1158016128 | ALPL | c.649_650insCTA (p.Val217delinsAlaMet) c.418_419insCTA (p.Val140delinsAlaMet) c.484_485insCTA (p.Val162delinsAlaMet) c.493_494insCTA (p.Val165delinsAlaMet) | ClinVar dbSNP |
| 1 | g.21568105T>A | CA338879010 | ALPL | c.650T>A (p.Val217Glu) c.419T>A (p.Val140Glu) c.485T>A (p.Val162Glu) c.494T>A (p.Val165Glu) | dbSNP |
| 1 | g.21568105T>C | CA666567 | ALPL | c.650T>C (p.Val217Ala) c.419T>C (p.Val140Ala) c.485T>C (p.Val162Ala) c.494T>C (p.Val165Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568105T>G | CA338879011 | ALPL | c.650T>G (p.Val217Gly) c.419T>G (p.Val140Gly) c.485T>G (p.Val162Gly) c.494T>G (p.Val165Gly) | |
| 1 | g.21568105T= | CA1158016127 | ALPL | c.650T= (p.Val217=) c.419T= (p.Val140=) c.485T= (p.Val162=) c.494T= (p.Val165=) | |
| 1 | g.21568105delinsCTAA | CA658820988 | ALPL | c.650delinsCTAA (p.Val217delinsAlaLys) c.419delinsCTAA (p.Val140delinsAlaLys) c.485delinsCTAA (p.Val162delinsAlaLys) c.494delinsCTAA (p.Val165delinsAlaLys) | ClinVar dbSNP |
| 1 | g.21568105_21568106insAA | CA666568 | ALPL | c.650_651insAA (p.Ile218ArgfsTer?) c.419_420insAA (p.Ile141ArgfsTer?) c.485_486insAA (p.Ile163ArgfsTer?) c.494_495insAA (p.Ile166ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568106G>A | CA416529862 | ALPL | c.651G>A (p.Val217=) c.420G>A (p.Val140=) c.486G>A (p.Val162=) c.495G>A (p.Val165=) | |
| 1 | g.21568106G>C | CA416529864 | ALPL | c.651G>C (p.Val217=) c.420G>C (p.Val140=) c.486G>C (p.Val162=) c.495G>C (p.Val165=) | |
| 1 | g.21568106G>T | CA416529867 | ALPL | c.651G>T (p.Val217=) c.420G>T (p.Val140=) c.486G>T (p.Val162=) c.495G>T (p.Val165=) | |
| 1 | g.21568107A>C | CA338879014 | ALPL | c.652A>C (p.Ile218Leu) c.421A>C (p.Ile141Leu) c.487A>C (p.Ile163Leu) c.496A>C (p.Ile166Leu) | |
| 1 | g.21568107A>G | CA338879015 | ALPL | c.652A>G (p.Ile218Val) c.421A>G (p.Ile141Val) c.487A>G (p.Ile163Val) c.496A>G (p.Ile166Val) | |
| 1 | g.21568107A>T | CA338879016 | ALPL | c.652A>T (p.Ile218Phe) c.421A>T (p.Ile141Phe) c.487A>T (p.Ile163Phe) c.496A>T (p.Ile166Phe) | |
| 1 | g.21568108T>A | CA666569 | ALPL | c.653T>A (p.Ile218Asn) c.422T>A (p.Ile141Asn) c.488T>A (p.Ile163Asn) c.497T>A (p.Ile166Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568108T>C | CA338879021 | ALPL | c.653T>C (p.Ile218Thr) c.422T>C (p.Ile141Thr) c.488T>C (p.Ile163Thr) c.497T>C (p.Ile166Thr) | gnomAD v4 |
| 1 | g.21568108T>G | CA338879019 | ALPL | c.653T>G (p.Ile218Ser) c.422T>G (p.Ile141Ser) c.488T>G (p.Ile163Ser) c.497T>G (p.Ile166Ser) | |
| 1 | g.21568108T= | CA1148278875 | ALPL | c.653T= (p.Ile218=) c.422T= (p.Ile141=) c.488T= (p.Ile163=) c.497T= (p.Ile166=) | |
| 1 | g.21568109C>A | CA416529879 | ALPL | c.654C>A (p.Ile218=) c.423C>A (p.Ile141=) c.489C>A (p.Ile163=) c.498C>A (p.Ile166=) | |
| 1 | g.21568109C>G | CA338879022 | ALPL | c.654C>G (p.Ile218Met) c.423C>G (p.Ile141Met) c.489C>G (p.Ile163Met) c.498C>G (p.Ile166Met) | gnomAD v4 |
| 1 | g.21568109C>T | CA416529877 | ALPL | c.654C>T (p.Ile218=) c.423C>T (p.Ile141=) c.489C>T (p.Ile163=) c.498C>T (p.Ile166=) | COSMIC |
| 1 | g.21568110A= | CA1158016129 | ALPL | c.655A= (p.Met219=) c.424A= (p.Met142=) c.490A= (p.Met164=) c.499A= (p.Met167=) | |
| 1 | g.21568110A>C | CA338879024 | ALPL | c.655A>C (p.Met219Leu) c.424A>C (p.Met142Leu) c.490A>C (p.Met164Leu) c.499A>C (p.Met167Leu) | dbSNP |
| 1 | g.21568110A>G | CA666570 | ALPL | c.655A>G (p.Met219Val) c.424A>G (p.Met142Val) c.490A>G (p.Met164Val) c.499A>G (p.Met167Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568110A>T | CA338879027 | ALPL | c.655A>T (p.Met219Leu) c.424A>T (p.Met142Leu) c.490A>T (p.Met164Leu) c.499A>T (p.Met167Leu) | |
| 1 | g.21568111T>A | CA338879029 | ALPL | c.656T>A (p.Met219Lys) c.425T>A (p.Met142Lys) c.491T>A (p.Met164Lys) c.500T>A (p.Met167Lys) | |
| 1 | g.21568111T>C | CA338879031 | ALPL | c.656T>C (p.Met219Thr) c.425T>C (p.Met142Thr) c.491T>C (p.Met164Thr) c.500T>C (p.Met167Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568111T>G | CA338879032 | ALPL | c.656T>G (p.Met219Arg) c.425T>G (p.Met142Arg) c.491T>G (p.Met164Arg) c.500T>G (p.Met167Arg) | |
| 1 | g.21568111T= | CA1158016131 | ALPL | c.656T= (p.Met219=) c.425T= (p.Met142=) c.491T= (p.Met164=) c.500T= (p.Met167=) | |
| 1 | g.21568111_21568112delinsTG | CA1158016130 | ALPL | c.656_657delinsTG (p.Met219=) c.425_426delinsTG (p.Met142=) c.491_492delinsTG (p.Met164=) c.500_501delinsTG (p.Met167=) | |
| 1 | g.21568112G>A | CA338879036 | ALPL | c.657G>A (p.Met219Ile) c.426G>A (p.Met142Ile) c.492G>A (p.Met164Ile) c.501G>A (p.Met167Ile) | |
| 1 | g.21568112G>C | CA338879037 | ALPL | c.657G>C (p.Met219Ile) c.426G>C (p.Met142Ile) c.492G>C (p.Met164Ile) c.501G>C (p.Met167Ile) | |
| 1 | g.21568112G= | CA1158016132 | ALPL | c.657G= (p.Met219=) c.426G= (p.Met142=) c.492G= (p.Met164=) c.501G= (p.Met167=) | |
| 1 | g.21568112G>T | CA666572 | ALPL | c.657G>T (p.Met219Ile) c.426G>T (p.Met142Ile) c.492G>T (p.Met164Ile) c.501G>T (p.Met167Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568117dup | CA16040717 | ALPL | c.662dup (p.Gly222TrpfsTer10) c.431dup (p.Gly145TrpfsTer10) c.497dup (p.Gly167TrpfsTer10) c.506dup (p.Gly170TrpfsTer10) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568117del | CA666571 | ALPL | c.662del (p.Gly221ValfsTer?) c.431del (p.Gly144ValfsTer?) c.497del (p.Gly166ValfsTer?) c.506del (p.Gly169ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21568113G>A | CA666573 | ALPL | c.658G>A (p.Gly220Arg) c.427G>A (p.Gly143Arg) c.493G>A (p.Gly165Arg) c.502G>A (p.Gly168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568113G>C | CA338879042 | ALPL | c.658G>C (p.Gly220Arg) c.427G>C (p.Gly143Arg) c.493G>C (p.Gly165Arg) c.502G>C (p.Gly168Arg) | |
| 1 | g.21568113G= | CA1148465515 | ALPL | c.658G= (p.Gly220=) c.427G= (p.Gly143=) c.493G= (p.Gly165=) c.502G= (p.Gly168=) | |
| 1 | g.21568113G>T | CA338879044 | ALPL | c.658G>T (p.Gly220Trp) c.427G>T (p.Gly143Trp) c.493G>T (p.Gly165Trp) c.502G>T (p.Gly168Trp) | |
| 1 | g.21568114G>A | CA338879047 | ALPL | c.659G>A (p.Gly220Glu) c.428G>A (p.Gly143Glu) c.494G>A (p.Gly165Glu) c.503G>A (p.Gly168Glu) | ClinVar gnomAD v4 |
| 1 | g.21568114G>C | CA338879046 | ALPL | c.659G>C (p.Gly220Ala) c.428G>C (p.Gly143Ala) c.494G>C (p.Gly165Ala) c.503G>C (p.Gly168Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568114G= | CA1158016133 | ALPL | c.659G= (p.Gly220=) c.428G= (p.Gly143=) c.494G= (p.Gly165=) c.503G= (p.Gly168=) | |
| 1 | g.21568114G>T | CA338879049 | ALPL | c.659G>T (p.Gly220Val) c.428G>T (p.Gly143Val) c.494G>T (p.Gly165Val) c.503G>T (p.Gly168Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568115G>A | CA416529895 | ALPL | c.660G>A (p.Gly220=) c.429G>A (p.Gly143=) c.495G>A (p.Gly165=) c.504G>A (p.Gly168=) | |
| 1 | g.21568115G>C | CA416529896 | ALPL | c.660G>C (p.Gly220=) c.429G>C (p.Gly143=) c.495G>C (p.Gly165=) c.504G>C (p.Gly168=) | |
| 1 | g.21568115G= | CA1158016134 | ALPL | c.660G= (p.Gly220=) c.429G= (p.Gly143=) c.495G= (p.Gly165=) c.504G= (p.Gly168=) | |
| 1 | g.21568115G>T | CA416529893 | ALPL | c.660G>T (p.Gly220=) c.429G>T (p.Gly143=) c.495G>T (p.Gly165=) c.504G>T (p.Gly168=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21568116G>A | CA338879051 | ALPL | c.661G>A (p.Gly221Ser) c.430G>A (p.Gly144Ser) c.496G>A (p.Gly166Ser) c.505G>A (p.Gly169Ser) | |
| 1 | g.21568116G>C | CA666574 | ALPL | c.661G>C (p.Gly221Arg) c.430G>C (p.Gly144Arg) c.496G>C (p.Gly166Arg) c.505G>C (p.Gly169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568116G= | CA1158016135 | ALPL | c.661G= (p.Gly221=) c.430G= (p.Gly144=) c.496G= (p.Gly166=) c.505G= (p.Gly169=) | |
| 1 | g.21568116G>T | CA338879053 | ALPL | c.661G>T (p.Gly221Cys) c.430G>T (p.Gly144Cys) c.496G>T (p.Gly166Cys) c.505G>T (p.Gly169Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568117G>A | CA338879056 | ALPL | c.662G>A (p.Gly221Asp) c.431G>A (p.Gly144Asp) c.497G>A (p.Gly166Asp) c.506G>A (p.Gly169Asp) | |
| 1 | g.21568117G>C | CA666575 | ALPL | c.662G>C (p.Gly221Ala) c.431G>C (p.Gly144Ala) c.497G>C (p.Gly166Ala) c.506G>C (p.Gly169Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568117G= | CA1147211666 | ALPL | c.662G= (p.Gly221=) c.431G= (p.Gly144=) c.497G= (p.Gly166=) c.506G= (p.Gly169=) | |
| 1 | g.21568117G>T | CA666576 | ALPL | c.662G>T (p.Gly221Val) c.431G>T (p.Gly144Val) c.497G>T (p.Gly166Val) c.506G>T (p.Gly169Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568118T>A | CA416529904 | ALPL | c.663T>A (p.Gly221=) c.432T>A (p.Gly144=) c.498T>A (p.Gly166=) c.507T>A (p.Gly169=) | |
| 1 | g.21568118T>C | CA416529903 | ALPL | c.663T>C (p.Gly221=) c.432T>C (p.Gly144=) c.498T>C (p.Gly166=) c.507T>C (p.Gly169=) | gnomAD v4 |
| 1 | g.21568118T>G | CA416529905 | ALPL | c.663T>G (p.Gly221=) c.432T>G (p.Gly144=) c.498T>G (p.Gly166=) c.507T>G (p.Gly169=) | dbSNP |
| 1 | g.21568118T= | CA1158016136 | ALPL | c.663T= (p.Gly221=) c.432T= (p.Gly144=) c.498T= (p.Gly166=) c.507T= (p.Gly169=) | |
| 1 | g.21568119G>A | CA338879058 | ALPL | c.664G>A (p.Gly222Ser) c.433G>A (p.Gly145Ser) c.499G>A (p.Gly167Ser) c.508G>A (p.Gly170Ser) | |
| 1 | g.21568119G>C | CA338879060 | ALPL | c.664G>C (p.Gly222Arg) c.433G>C (p.Gly145Arg) c.499G>C (p.Gly167Arg) c.508G>C (p.Gly170Arg) | |
| 1 | g.21568119G>T | CA338879062 | ALPL | c.664G>T (p.Gly222Cys) c.433G>T (p.Gly145Cys) c.499G>T (p.Gly167Cys) c.508G>T (p.Gly170Cys) | |
| 1 | g.21568120G>A | CA338879064 | ALPL | c.665G>A (p.Gly222Asp) c.434G>A (p.Gly145Asp) c.500G>A (p.Gly167Asp) c.509G>A (p.Gly170Asp) | |
| 1 | g.21568120G>C | CA338879065 | ALPL | c.665G>C (p.Gly222Ala) c.434G>C (p.Gly145Ala) c.500G>C (p.Gly167Ala) c.509G>C (p.Gly170Ala) | |
| 1 | g.21568120G>T | CA338879067 | ALPL | c.665G>T (p.Gly222Val) c.434G>T (p.Gly145Val) c.500G>T (p.Gly167Val) c.509G>T (p.Gly170Val) | |
| 1 | g.21568121C>A | CA416529913 | ALPL | c.666C>A (p.Gly222=) c.435C>A (p.Gly145=) c.501C>A (p.Gly167=) c.510C>A (p.Gly170=) | |
| 1 | g.21568121C>G | CA416529915 | ALPL | c.666C>G (p.Gly222=) c.435C>G (p.Gly145=) c.501C>G (p.Gly167=) c.510C>G (p.Gly170=) | |
| 1 | g.21568121C>T | CA416529912 | ALPL | c.666C>T (p.Gly222=) c.435C>T (p.Gly145=) c.501C>T (p.Gly167=) c.510C>T (p.Gly170=) | ClinVar |
| 1 | g.21568122C>A | CA416529917 | ALPL | c.667C>A (p.Arg223=) c.436C>A (p.Arg146=) c.502C>A (p.Arg168=) c.511C>A (p.Arg171=) | |
| 1 | g.21568122C= | CA1158016137 | ALPL | c.667C= (p.Arg223=) c.436C= (p.Arg146=) c.502C= (p.Arg168=) c.511C= (p.Arg171=) | |
| 1 | g.21568122C>G | CA338879068 | ALPL | c.667C>G (p.Arg223Gly) c.436C>G (p.Arg146Gly) c.502C>G (p.Arg168Gly) c.511C>G (p.Arg171Gly) | |
| 1 | g.21568122C>T | CA274235 | ALPL | c.667C>T (p.Arg223Trp) c.436C>T (p.Arg146Trp) c.502C>T (p.Arg168Trp) c.511C>T (p.Arg171Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21568123G>A | CA666577 | ALPL | c.668G>A (p.Arg223Gln) c.437G>A (p.Arg146Gln) c.503G>A (p.Arg168Gln) c.512G>A (p.Arg171Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568123G>C | CA338879072 | ALPL | c.668G>C (p.Arg223Pro) c.437G>C (p.Arg146Pro) c.503G>C (p.Arg168Pro) c.512G>C (p.Arg171Pro) | |
| 1 | g.21568123G= | CA1143366460 | ALPL | c.668G= (p.Arg223=) c.437G= (p.Arg146=) c.503G= (p.Arg168=) c.512G= (p.Arg171=) | |
| 1 | g.21568123G>T | CA338879074 | ALPL | c.668G>T (p.Arg223Leu) c.437G>T (p.Arg146Leu) c.503G>T (p.Arg168Leu) c.512G>T (p.Arg171Leu) | gnomAD v4 |
| 1 | g.21568124G>A | CA416529926 | ALPL | c.669G>A (p.Arg223=) c.438G>A (p.Arg146=) c.504G>A (p.Arg168=) c.513G>A (p.Arg171=) | ClinVar |
| 1 | g.21568124G>C | CA416529922 | ALPL | c.669G>C (p.Arg223=) c.438G>C (p.Arg146=) c.504G>C (p.Arg168=) c.513G>C (p.Arg171=) | |
| 1 | g.21568124G>T | CA416529924 | ALPL | c.669G>T (p.Arg223=) c.438G>T (p.Arg146=) c.504G>T (p.Arg168=) c.513G>T (p.Arg171=) | gnomAD v4 |
| 1 | g.21568125A= | CA1158016138 | ALPL | c.670A= (p.Lys224=) c.439A= (p.Lys147=) c.505A= (p.Lys169=) c.514A= (p.Lys172=) | |
| 1 | g.21568125A>C | CA338879079 | ALPL | c.670A>C (p.Lys224Gln) c.439A>C (p.Lys147Gln) c.505A>C (p.Lys169Gln) c.514A>C (p.Lys172Gln) | |
| 1 | g.21568125A>G | CA338879076 | ALPL | c.670A>G (p.Lys224Glu) c.439A>G (p.Lys147Glu) c.505A>G (p.Lys169Glu) c.514A>G (p.Lys172Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568125A>T | CA338879078 | ALPL | c.670A>T (p.Lys224Ter) c.439A>T (p.Lys147Ter) c.505A>T (p.Lys169Ter) c.514A>T (p.Lys172Ter) | |
| 1 | g.21568126A>C | CA338879081 | ALPL | c.671A>C (p.Lys224Thr) c.440A>C (p.Lys147Thr) c.506A>C (p.Lys169Thr) c.515A>C (p.Lys172Thr) | |
| 1 | g.21568126A>G | CA338879082 | ALPL | c.671A>G (p.Lys224Arg) c.440A>G (p.Lys147Arg) c.506A>G (p.Lys169Arg) c.515A>G (p.Lys172Arg) | |
| 1 | g.21568126A>T | CA338879084 | ALPL | c.671A>T (p.Lys224Ile) c.440A>T (p.Lys147Ile) c.506A>T (p.Lys169Ile) c.515A>T (p.Lys172Ile) | ClinVar |
| 1 | g.21568127A>C | CA338879086 | ALPL | c.672A>C (p.Lys224Asn) c.441A>C (p.Lys147Asn) c.507A>C (p.Lys169Asn) c.516A>C (p.Lys172Asn) | |
| 1 | g.21568127A>G | CA416529932 | ALPL | c.672A>G (p.Lys224=) c.441A>G (p.Lys147=) c.507A>G (p.Lys169=) c.516A>G (p.Lys172=) | |
| 1 | g.21568127A>T | CA338879087 | ALPL | c.672A>T (p.Lys224Asn) c.441A>T (p.Lys147Asn) c.507A>T (p.Lys169Asn) c.516A>T (p.Lys172Asn) | |
| 1 | g.21568128T>A | CA338879089 | ALPL | c.673T>A (p.Tyr225Asn) c.442T>A (p.Tyr148Asn) c.508T>A (p.Tyr170Asn) c.517T>A (p.Tyr173Asn) | |
| 1 | g.21568128T>C | CA666578 | ALPL | c.673T>C (p.Tyr225His) c.442T>C (p.Tyr148His) c.508T>C (p.Tyr170His) c.517T>C (p.Tyr173His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568128T>G | CA338879091 | ALPL | c.673T>G (p.Tyr225Asp) c.442T>G (p.Tyr148Asp) c.508T>G (p.Tyr170Asp) c.517T>G (p.Tyr173Asp) | |
| 1 | g.21568128T= | CA1158016139 | ALPL | c.673T= (p.Tyr225=) c.442T= (p.Tyr148=) c.508T= (p.Tyr170=) c.517T= (p.Tyr173=) | |
| 1 | g.21568129A>C | CA338879092 | ALPL | c.674A>C (p.Tyr225Ser) c.443A>C (p.Tyr148Ser) c.509A>C (p.Tyr170Ser) c.518A>C (p.Tyr173Ser) | |
| 1 | g.21568129A>G | CA338879094 | ALPL | c.674A>G (p.Tyr225Cys) c.443A>G (p.Tyr148Cys) c.509A>G (p.Tyr170Cys) c.518A>G (p.Tyr173Cys) | |
| 1 | g.21568129A>T | CA338879095 | ALPL | c.674A>T (p.Tyr225Phe) c.443A>T (p.Tyr148Phe) c.509A>T (p.Tyr170Phe) c.518A>T (p.Tyr173Phe) | |
| 1 | g.21568130C>A | CA338879098 | ALPL | c.675C>A (p.Tyr225Ter) c.444C>A (p.Tyr148Ter) c.510C>A (p.Tyr170Ter) c.519C>A (p.Tyr173Ter) | |
| 1 | g.21568130C= | CA1158016140 | ALPL | c.675C= (p.Tyr225=) c.444C= (p.Tyr148=) c.510C= (p.Tyr170=) c.519C= (p.Tyr173=) | |
| 1 | g.21568130C>G | CA338879097 | ALPL | c.675C>G (p.Tyr225Ter) c.444C>G (p.Tyr148Ter) c.510C>G (p.Tyr170Ter) c.519C>G (p.Tyr173Ter) | |
| 1 | g.21568130C>T | CA19063350 | ALPL | c.675C>T (p.Tyr225=) c.444C>T (p.Tyr148=) c.510C>T (p.Tyr170=) c.519C>T (p.Tyr173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568130_21568131insCA | CA2695197984 | ALPL | c.675_676insCA (p.Met226GlnfsTer?) c.444_445insCA (p.Met149GlnfsTer?) c.510_511insCA (p.Met171GlnfsTer?) c.519_520insCA (p.Met174GlnfsTer?) | ClinVar |
| 1 | g.21568131A= | CA1158016141 | ALPL | c.676A= (p.Met226=) c.445A= (p.Met149=) c.511A= (p.Met171=) c.520A= (p.Met174=) | |
| 1 | g.21568131A>C | CA666579 | ALPL | c.676A>C (p.Met226Leu) c.445A>C (p.Met149Leu) c.511A>C (p.Met171Leu) c.520A>C (p.Met174Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568131A>G | CA19063356 | ALPL | c.676A>G (p.Met226Val) c.445A>G (p.Met149Val) c.511A>G (p.Met171Val) c.520A>G (p.Met174Val) | dbSNP |
| 1 | g.21568131A>T | CA338879101 | ALPL | c.676A>T (p.Met226Leu) c.445A>T (p.Met149Leu) c.511A>T (p.Met171Leu) c.520A>T (p.Met174Leu) | |
| 1 | g.21568132T>A | CA338879103 | ALPL | c.677T>A (p.Met226Lys) c.446T>A (p.Met149Lys) c.512T>A (p.Met171Lys) c.521T>A (p.Met174Lys) | |
| 1 | g.21568132T>C | CA666580 | ALPL | c.677T>C (p.Met226Thr) c.446T>C (p.Met149Thr) c.512T>C (p.Met171Thr) c.521T>C (p.Met174Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568132T>G | CA338879105 | ALPL | c.677T>G (p.Met226Arg) c.446T>G (p.Met149Arg) c.512T>G (p.Met171Arg) c.521T>G (p.Met174Arg) | |
| 1 | g.21568132T= | CA1158016142 | ALPL | c.677T= (p.Met226=) c.446T= (p.Met149=) c.512T= (p.Met171=) c.521T= (p.Met174=) | |
| 1 | g.21568133G>A | CA338879109 | ALPL | c.678G>A (p.Met226Ile) c.447G>A (p.Met149Ile) c.513G>A (p.Met171Ile) c.522G>A (p.Met174Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21568133G>C | CA338879111 | ALPL | c.678G>C (p.Met226Ile) c.447G>C (p.Met149Ile) c.513G>C (p.Met171Ile) c.522G>C (p.Met174Ile) | |
| 1 | g.21568133G= | CA1158016143 | ALPL | c.678G= (p.Met226=) c.447G= (p.Met149=) c.513G= (p.Met171=) c.522G= (p.Met174=) | |
| 1 | g.21568133G>T | CA338879113 | ALPL | c.678G>T (p.Met226Ile) c.447G>T (p.Met149Ile) c.513G>T (p.Met171Ile) c.522G>T (p.Met174Ile) | |
| 1 | g.21568134T>A | CA338879114 | ALPL | c.679T>A (p.Tyr227Asn) c.448T>A (p.Tyr150Asn) c.514T>A (p.Tyr172Asn) c.523T>A (p.Tyr175Asn) | |
| 1 | g.21568134T>C | CA338879115 | ALPL | c.679T>C (p.Tyr227His) c.448T>C (p.Tyr150His) c.514T>C (p.Tyr172His) c.523T>C (p.Tyr175His) | |
| 1 | g.21568134T>G | CA338879117 | ALPL | c.679T>G (p.Tyr227Asp) c.448T>G (p.Tyr150Asp) c.514T>G (p.Tyr172Asp) c.523T>G (p.Tyr175Asp) | |
| 1 | g.21568135A= | CA1158016144 | ALPL | c.680A= (p.Tyr227=) c.449A= (p.Tyr150=) c.515A= (p.Tyr172=) c.524A= (p.Tyr175=) | |
| 1 | g.21568135A>C | CA338879122 | ALPL | c.680A>C (p.Tyr227Ser) c.449A>C (p.Tyr150Ser) c.515A>C (p.Tyr172Ser) c.524A>C (p.Tyr175Ser) | |
| 1 | g.21568135A>G | CA338879121 | ALPL | c.680A>G (p.Tyr227Cys) c.449A>G (p.Tyr150Cys) c.515A>G (p.Tyr172Cys) c.524A>G (p.Tyr175Cys) | dbSNP |
| 1 | g.21568135A>T | CA338879119 | ALPL | c.680A>T (p.Tyr227Phe) c.449A>T (p.Tyr150Phe) c.515A>T (p.Tyr172Phe) c.524A>T (p.Tyr175Phe) | |
| 1 | g.21568136C>A | CA338879124 | ALPL | c.681C>A (p.Tyr227Ter) c.450C>A (p.Tyr150Ter) c.516C>A (p.Tyr172Ter) c.525C>A (p.Tyr175Ter) | ClinVar gnomAD v4 |
| 1 | g.21568136C>G | CA338879125 | ALPL | c.681C>G (p.Tyr227Ter) c.450C>G (p.Tyr150Ter) c.516C>G (p.Tyr172Ter) c.525C>G (p.Tyr175Ter) | |
| 1 | g.21568136C>T | CA416529953 | ALPL | c.681C>T (p.Tyr227=) c.450C>T (p.Tyr150=) c.516C>T (p.Tyr172=) c.525C>T (p.Tyr175=) | gnomAD v4 |
| 1 | g.21568137C>A | CA338879127 | ALPL | c.682C>A (p.Pro228Thr) c.451C>A (p.Pro151Thr) c.517C>A (p.Pro173Thr) c.526C>A (p.Pro176Thr) | |
| 1 | g.21568137C>G | CA338879128 | ALPL | c.682C>G (p.Pro228Ala) c.451C>G (p.Pro151Ala) c.517C>G (p.Pro173Ala) c.526C>G (p.Pro176Ala) | |
| 1 | g.21568137C>T | CA338879129 | ALPL | c.682C>T (p.Pro228Ser) c.451C>T (p.Pro151Ser) c.517C>T (p.Pro173Ser) c.526C>T (p.Pro176Ser) | |
| 1 | g.21568138C>A | CA338879131 | ALPL | c.683C>A (p.Pro228His) c.452C>A (p.Pro151His) c.518C>A (p.Pro173His) c.527C>A (p.Pro176His) | |
| 1 | g.21568138C>G | CA338879133 | ALPL | c.683C>G (p.Pro228Arg) c.452C>G (p.Pro151Arg) c.518C>G (p.Pro173Arg) c.527C>G (p.Pro176Arg) | gnomAD v4 |
| 1 | g.21568138C>T | CA338879134 | ALPL | c.683C>T (p.Pro228Leu) c.452C>T (p.Pro151Leu) c.518C>T (p.Pro173Leu) c.527C>T (p.Pro176Leu) | |
| 1 | g.21568139C>A | CA416529962 | ALPL | c.684C>A (p.Pro228=) c.453C>A (p.Pro151=) c.519C>A (p.Pro173=) c.528C>A (p.Pro176=) | |
| 1 | g.21568139C= | CA1143671127 | ALPL | c.684C= (p.Pro228=) c.453C= (p.Pro151=) c.519C= (p.Pro173=) c.528C= (p.Pro176=) | |
| 1 | g.21568139C>G | CA416529963 | ALPL | c.684C>G (p.Pro228=) c.453C>G (p.Pro151=) c.519C>G (p.Pro173=) c.528C>G (p.Pro176=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568139C>T | CA666581 | ALPL | c.684C>T (p.Pro228=) c.453C>T (p.Pro151=) c.519C>T (p.Pro173=) c.528C>T (p.Pro176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568140A>C | CA338879137 | ALPL | c.685A>C (p.Lys229Gln) c.454A>C (p.Lys152Gln) c.520A>C (p.Lys174Gln) c.529A>C (p.Lys177Gln) | |
| 1 | g.21568140A>G | CA338879139 | ALPL | c.685A>G (p.Lys229Glu) c.454A>G (p.Lys152Glu) c.520A>G (p.Lys174Glu) c.529A>G (p.Lys177Glu) | |
| 1 | g.21568140A>T | CA338879141 | ALPL | c.685A>T (p.Lys229Ter) c.454A>T (p.Lys152Ter) c.520A>T (p.Lys174Ter) c.529A>T (p.Lys177Ter) | |
| 1 | g.21568141A>C | CA338879146 | ALPL | c.686A>C (p.Lys229Thr) c.455A>C (p.Lys152Thr) c.521A>C (p.Lys174Thr) c.530A>C (p.Lys177Thr) | |
| 1 | g.21568141A>G | CA338879144 | ALPL | c.686A>G (p.Lys229Arg) c.455A>G (p.Lys152Arg) c.521A>G (p.Lys174Arg) c.530A>G (p.Lys177Arg) | gnomAD v4 |
| 1 | g.21568141A>T | CA338879142 | ALPL | c.686A>T (p.Lys229Met) c.455A>T (p.Lys152Met) c.521A>T (p.Lys174Met) c.530A>T (p.Lys177Met) | |
| 1 | g.21568142G>A | CA416529969 | ALPL | c.687G>A (p.Lys229=) c.456G>A (p.Lys152=) c.522G>A (p.Lys174=) c.531G>A (p.Lys177=) | gnomAD v4 |
| 1 | g.21568142G>C | CA338879147 | ALPL | c.687G>C (p.Lys229Asn) c.456G>C (p.Lys152Asn) c.522G>C (p.Lys174Asn) c.531G>C (p.Lys177Asn) | |
| 1 | g.21568142G= | CA1158016145 | ALPL | c.687G= (p.Lys229=) c.456G= (p.Lys152=) c.522G= (p.Lys174=) c.531G= (p.Lys177=) | |
| 1 | g.21568142G>T | CA666582 | ALPL | c.687G>T (p.Lys229Asn) c.456G>T (p.Lys152Asn) c.522G>T (p.Lys174Asn) c.531G>T (p.Lys177Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568143A= | CA1158016146 | ALPL | c.688A= (p.Asn230=) c.457A= (p.Asn153=) c.523A= (p.Asn175=) c.532A= (p.Asn178=) | |
| 1 | g.21568143A>C | CA338879150 | ALPL | c.688A>C (p.Asn230His) c.457A>C (p.Asn153His) c.523A>C (p.Asn175His) c.532A>C (p.Asn178His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568143A>G | CA338879152 | ALPL | c.688A>G (p.Asn230Asp) c.457A>G (p.Asn153Asp) c.523A>G (p.Asn175Asp) c.532A>G (p.Asn178Asp) | |
| 1 | g.21568143A>T | CA338879153 | ALPL | c.688A>T (p.Asn230Tyr) c.457A>T (p.Asn153Tyr) c.523A>T (p.Asn175Tyr) c.532A>T (p.Asn178Tyr) | |
| 1 | g.21568144A>C | CA338879154 | ALPL | c.689A>C (p.Asn230Thr) c.458A>C (p.Asn153Thr) c.524A>C (p.Asn175Thr) c.533A>C (p.Asn178Thr) | |
| 1 | g.21568144A>G | CA338879155 | ALPL | c.689A>G (p.Asn230Ser) c.458A>G (p.Asn153Ser) c.524A>G (p.Asn175Ser) c.533A>G (p.Asn178Ser) | |
| 1 | g.21568144A>T | CA338879156 | ALPL | c.689A>T (p.Asn230Ile) c.458A>T (p.Asn153Ile) c.524A>T (p.Asn175Ile) c.533A>T (p.Asn178Ile) | |
| 1 | g.21568145T>A | CA338879157 | ALPL | c.690T>A (p.Asn230Lys) c.459T>A (p.Asn153Lys) c.525T>A (p.Asn175Lys) c.534T>A (p.Asn178Lys) | |
| 1 | g.21568145T>C | CA416529977 | ALPL | c.690T>C (p.Asn230=) c.459T>C (p.Asn153=) c.525T>C (p.Asn175=) c.534T>C (p.Asn178=) | |
| 1 | g.21568145T>G | CA338879158 | ALPL | c.690T>G (p.Asn230Lys) c.459T>G (p.Asn153Lys) c.525T>G (p.Asn175Lys) c.534T>G (p.Asn178Lys) | |
| 1 | g.21568146A= | CA1148423842 | ALPL | c.691A= (p.Lys231=) c.460A= (p.Lys154=) c.526A= (p.Lys176=) c.535A= (p.Lys179=) | |
| 1 | g.21568146A>C | CA338879159 | ALPL | c.691A>C (p.Lys231Gln) c.460A>C (p.Lys154Gln) c.526A>C (p.Lys176Gln) c.535A>C (p.Lys179Gln) | |
| 1 | g.21568146A>G | CA666583 | ALPL | c.691A>G (p.Lys231Glu) c.460A>G (p.Lys154Glu) c.526A>G (p.Lys176Glu) c.535A>G (p.Lys179Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568146A>T | CA338879160 | ALPL | c.691A>T (p.Lys231Ter) c.460A>T (p.Lys154Ter) c.526A>T (p.Lys176Ter) c.535A>T (p.Lys179Ter) | |
| 1 | g.21568149dup | CA416529980 | ALPL | c.694dup (p.Thr232AsnfsTer2) c.463dup (p.Thr155AsnfsTer2) c.529dup (p.Thr177AsnfsTer2) c.538dup (p.Thr180AsnfsTer2) | COSMIC |