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 |
|---|---|---|---|---|---|
| X | g.70030396A>G | CA2513495464 | EDA | c.742-73A>G (n.742-73A>G) c.346-73A>G (n.346-73A>G) | |
| X | g.70030398A>T | CA2533574332 | EDA | c.742-71A>T (n.742-71A>T) c.346-71A>T (n.346-71A>T) | |
| X | g.70030399C>T | CA2693979043 | EDA | c.742-70C>T (n.742-70C>T) c.346-70C>T (n.346-70C>T) | gnomAD v4 |
| X | g.70030400A>C | CA2551475252 | EDA | c.742-69A>C (n.742-69A>C) c.346-69A>C (n.346-69A>C) | |
| X | g.70030401del | CA2579632504 | EDA | c.742-68del (n.742-68del) c.346-68del (n.346-68del) | |
| X | g.70030401T>C | CA2693979044 | EDA | c.742-68T>C (n.742-68T>C) c.346-68T>C (n.346-68T>C) | gnomAD v4 |
| X | g.70030402G>A | CA2435980382 | EDA | c.742-67G>A (n.742-67G>A) c.346-67G>A (n.346-67G>A) | dbSNP |
| X | g.70030402G= | CA2435980381 | EDA | c.742-67G= (n.742-67G=) c.346-67G= (n.346-67G=) | |
| X | g.70030402G>T | CA2693979045 | EDA | c.742-67G>T (n.742-67G>T) c.346-67G>T (n.346-67G>T) | gnomAD v4 |
| X | g.70030404del | CA2579632505 | EDA | c.742-65del (n.742-65del) c.346-65del (n.346-65del) | gnomAD v4 |
| X | g.70030403_70030404insC | CA2514546079 | EDA | c.742-66_742-65insC (n.742-66_742-65insC) c.346-66_346-65insC (n.346-66_346-65insC) | |
| X | g.70030404G>A | CA2514405717 | EDA | c.742-65G>A (n.742-65G>A) c.346-65G>A (n.346-65G>A) | |
| X | g.70030406C>A | CA2693979046 | EDA | c.742-63C>A (n.742-63C>A) c.346-63C>A (n.346-63C>A) | gnomAD v4 |
| X | g.70030408G>C | CA2693979047 | EDA | c.742-61G>C (n.742-61G>C) c.346-61G>C (n.346-61G>C) | gnomAD v4 |
| X | g.70030411G>A | CA877773441 | EDA | c.742-58G>A (n.742-58G>A) c.346-58G>A (n.346-58G>A) | dbSNP |
| X | g.70030411G= | CA2435980383 | EDA | c.742-58G= (n.742-58G=) c.346-58G= (n.346-58G=) | |
| X | g.70030411G>T | CA2693979048 | EDA | c.742-58G>T (n.742-58G>T) c.346-58G>T (n.346-58G>T) | gnomAD v4 |
| X | g.70030412G>A | CA2517186206 | EDA | c.742-57G>A (n.742-57G>A) c.346-57G>A (n.346-57G>A) | gnomAD v4 |
| X | g.70030412G>T | CA2693979049 | EDA | c.742-57G>T (n.742-57G>T) c.346-57G>T (n.346-57G>T) | gnomAD v4 |
| X | g.70030413C>A | CA2693979050 | EDA | c.742-56C>A (n.742-56C>A) c.346-56C>A (n.346-56C>A) | gnomAD v4 |
| X | g.70030414T>C | CA2693979051 | EDA | c.742-55T>C (n.742-55T>C) c.346-55T>C (n.346-55T>C) | gnomAD v4 |
| X | g.70030414T>G | CA2693979052 | EDA | c.742-55T>G (n.742-55T>G) c.346-55T>G (n.346-55T>G) | gnomAD v4 |
| X | g.70030415G>A | CA2693979053 | EDA | c.742-54G>A (n.742-54G>A) c.346-54G>A (n.346-54G>A) | gnomAD v4 |
| X | g.70030415G>T | CA2693979054 | EDA | c.742-54G>T (n.742-54G>T) c.346-54G>T (n.346-54G>T) | gnomAD v4 |
| X | g.70030416A>G | CA2565648851 | EDA | c.742-53A>G (n.742-53A>G) c.346-53A>G (n.346-53A>G) | |
| X | g.70030417G>A | CA2693979055 | EDA | c.742-52G>A (n.742-52G>A) c.346-52G>A (n.346-52G>A) | gnomAD v4 |
| X | g.70030417G>T | CA2693979056 | EDA | c.742-52G>T (n.742-52G>T) c.346-52G>T (n.346-52G>T) | gnomAD v4 |
| X | g.70030418C>A | CA2693979057 | EDA | c.742-51C>A (n.742-51C>A) c.346-51C>A (n.346-51C>A) | gnomAD v4 |
| X | g.70030418C= | CA2435980384 | EDA | c.742-51C= (n.742-51C=) c.346-51C= (n.346-51C=) | |
| X | g.70030418C>T | CA330952372 | EDA | c.742-51C>T (n.742-51C>T) c.346-51C>T (n.346-51C>T) | dbSNP gnomAD v4 |
| X | g.70030419A>G | CA2693979058 | EDA | c.742-50A>G (n.742-50A>G) c.346-50A>G (n.346-50A>G) | gnomAD v4 |
| X | g.70030421G>A | CA2570732190 | EDA | c.742-48G>A (n.742-48G>A) c.346-48G>A (n.346-48G>A) | gnomAD v4 |
| X | g.70030421G>C | CA642456081 | EDA | c.742-48G>C (n.742-48G>C) c.346-48G>C (n.346-48G>C) | dbSNP gnomAD v2 |
| X | g.70030421G= | CA2435980385 | EDA | c.742-48G= (n.742-48G=) c.346-48G= (n.346-48G=) | |
| X | g.70030422C>A | CA2693979059 | EDA | c.742-47C>A (n.742-47C>A) c.346-47C>A (n.346-47C>A) | gnomAD v4 |
| X | g.70030422C>T | CA2693979060 | EDA | c.742-47C>T (n.742-47C>T) c.346-47C>T (n.346-47C>T) | gnomAD v4 |
| X | g.70030424G>A | CA2693979061 | EDA | c.742-45G>A (n.742-45G>A) c.346-45G>A (n.346-45G>A) | gnomAD v4 |
| X | g.70030425C>A | CA2579632506 | EDA | c.742-44C>A (n.742-44C>A) c.346-44C>A (n.346-44C>A) | gnomAD v4 |
| X | g.70030425C>T | CA2693979062 | EDA | c.742-44C>T (n.742-44C>T) c.346-44C>T (n.346-44C>T) | gnomAD v4 |
| X | g.70030426C>A | CA2693979063 | EDA | c.742-43C>A (n.742-43C>A) c.346-43C>A (n.346-43C>A) | gnomAD v4 |
| X | g.70030426C>T | CA2693979064 | EDA | c.742-43C>T (n.742-43C>T) c.346-43C>T (n.346-43C>T) | gnomAD v4 |
| X | g.70030427A>G | CA2693979065 | EDA | c.742-42A>G (n.742-42A>G) c.346-42A>G (n.346-42A>G) | gnomAD v4 |
| X | g.70030427A>T | CA2693979066 | EDA | c.742-42A>T (n.742-42A>T) c.346-42A>T (n.346-42A>T) | gnomAD v4 |
| X | g.70030428T>A | CA2579632507 | EDA | c.742-41T>A (n.742-41T>A) c.346-41T>A (n.346-41T>A) | |
| X | g.70030428T>G | CA10438993 | EDA | c.742-41T>G (n.742-41T>G) c.346-41T>G (n.346-41T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70030428T= | CA2435980386 | EDA | c.742-41T= (n.742-41T=) c.346-41T= (n.346-41T=) | |
| X | g.70030429T>C | CA10438994 | EDA | c.742-40T>C (n.742-40T>C) c.346-40T>C (n.346-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70030429T= | CA2435980387 | EDA | c.742-40T= (n.742-40T=) c.346-40T= (n.346-40T=) | |
| X | g.70030430A= | CA2435980388 | EDA | c.742-39A= (n.742-39A=) c.346-39A= (n.346-39A=) | |
| X | g.70030430A>T | CA2435980389 | EDA | c.742-39A>T (n.742-39A>T) c.346-39A>T (n.346-39A>T) | dbSNP gnomAD v4 |
| X | g.70030431C>A | CA2693979067 | EDA | c.742-38C>A (n.742-38C>A) c.346-38C>A (n.346-38C>A) | gnomAD v4 |
| X | g.70030431C= | CA2435980390 | EDA | c.742-38C= (n.742-38C=) c.346-38C= (n.346-38C=) | |
| X | g.70030431C>G | CA2693979068 | EDA | c.742-38C>G (n.742-38C>G) c.346-38C>G (n.346-38C>G) | gnomAD v4 |
| X | g.70030431C>T | CA642456085 | EDA | c.742-38C>T (n.742-38C>T) c.346-38C>T (n.346-38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030432T>A | CA2693979069 | EDA | c.742-37T>A (n.742-37T>A) c.346-37T>A (n.346-37T>A) | gnomAD v4 |
| X | g.70030432T>C | CA2693979070 | EDA | c.742-37T>C (n.742-37T>C) c.346-37T>C (n.346-37T>C) | gnomAD v4 |
| X | g.70030433C>A | CA2693979071 | EDA | c.742-36C>A (n.742-36C>A) c.346-36C>A (n.346-36C>A) | gnomAD v4 |
| X | g.70030433C= | CA2435980391 | EDA | c.742-36C= (n.742-36C=) c.346-36C= (n.346-36C=) | |
| X | g.70030433C>T | CA10438995 | EDA | c.742-36C>T (n.742-36C>T) c.346-36C>T (n.346-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030434A>G | CA2693979072 | EDA | c.742-35A>G (n.742-35A>G) c.346-35A>G (n.346-35A>G) | gnomAD v4 |
| X | g.70030435del | CA2579632508 | EDA | c.742-34del (n.742-34del) c.346-34del (n.346-34del) | |
| X | g.70030435T>C | CA330952373 | EDA | c.742-34T>C (n.742-34T>C) c.346-34T>C (n.346-34T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70030435T= | CA2435980392 | EDA | c.742-34T= (n.742-34T=) c.346-34T= (n.346-34T=) | |
| X | g.70030436A= | CA2435980393 | EDA | c.742-33A= (n.742-33A=) c.346-33A= (n.346-33A=) | |
| X | g.70030436A>G | CA10438996 | EDA | c.742-33A>G (n.742-33A>G) c.346-33A>G (n.346-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70030436A>T | CA2579632509 | EDA | c.742-33A>T (n.742-33A>T) c.346-33A>T (n.346-33A>T) | |
| X | g.70030437G>A | CA2693979073 | EDA | c.742-32G>A (n.742-32G>A) c.346-32G>A (n.346-32G>A) | gnomAD v4 |
| X | g.70030437G>T | CA2693979074 | EDA | c.742-32G>T (n.742-32G>T) c.346-32G>T (n.346-32G>T) | gnomAD v4 |
| X | g.70030438T>C | CA2579632510 | EDA | c.742-31T>C (n.742-31T>C) c.346-31T>C (n.346-31T>C) | gnomAD v4 |
| X | g.70030441C>T | CA2693979075 | EDA | c.742-28C>T (n.742-28C>T) c.346-28C>T (n.346-28C>T) | gnomAD v4 |
| X | g.70030442T>C | CA2693979076 | EDA | c.742-27T>C (n.742-27T>C) c.346-27T>C (n.346-27T>C) | gnomAD v4 |
| X | g.70030443A>G | CA2693979078 | EDA | c.742-26A>G (n.742-26A>G) c.346-26A>G (n.346-26A>G) | gnomAD v4 |
| X | g.70030443A>T | CA2693979077 | EDA | c.742-26A>T (n.742-26A>T) c.346-26A>T (n.346-26A>T) | gnomAD v4 |
| X | g.70030443_70030445delinsACT | CA2435980394 | EDA | c.742-26_742-24delinsACT (n.742-26_742-24delinsACT) c.346-26_346-24delinsACT (n.346-26_346-24delinsACT) | |
| X | g.70030444C>A | CA2693979079 | EDA | c.742-25C>A (n.742-25C>A) c.346-25C>A (n.346-25C>A) | gnomAD v4 |
| X | g.70030444C= | CA2435980395 | EDA | c.742-25C= (n.742-25C=) c.346-25C= (n.346-25C=) | |
| X | g.70030444C>T | CA2435980396 | EDA | c.742-25C>T (n.742-25C>T) c.346-25C>T (n.346-25C>T) | dbSNP gnomAD v4 |
| X | g.70030448_70030449del | CA10438997 | EDA | c.742-21_742-20del (n.742-21_742-20del) c.346-21_346-20del (n.346-21_346-20del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030445T>C | CA2693979080 | EDA | c.742-24T>C (n.742-24T>C) c.346-24T>C (n.346-24T>C) | gnomAD v4 |
| X | g.70030446C>A | CA2693979081 | EDA | c.742-23C>A (n.742-23C>A) c.346-23C>A (n.346-23C>A) | gnomAD v4 |
| X | g.70030446C= | CA2435980398 | EDA | c.742-23C= (n.742-23C=) c.346-23C= (n.346-23C=) | |
| X | g.70030446C>G | CA10438998 | EDA | c.742-23C>G (n.742-23C>G) c.346-23C>G (n.346-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030446_70030450delinsCTCTA | CA2435980397 | EDA | c.742-23_742-19delinsCTCTA (n.742-23_742-19delinsCTCTA) c.346-23_346-19delinsCTCTA (n.346-23_346-19delinsCTCTA) | |
| X | g.70030447T>C | CA642456093 | EDA | c.742-22T>C (n.742-22T>C) c.346-22T>C (n.346-22T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70030447T= | CA2435980400 | EDA | c.742-22T= (n.742-22T=) c.346-22T= (n.346-22T=) | |
| X | g.70030449_70030452del | CA2435980399 | EDA | c.742-20_742-17del (n.742-20_742-17del) c.346-20_346-17del (n.346-20_346-17del) | ClinVar dbSNP gnomAD v4 |
| X | g.70030448C>A | CA2693979082 | EDA | c.742-21C>A (n.742-21C>A) c.346-21C>A (n.346-21C>A) | gnomAD v4 |
| X | g.70030448C>G | CA2693979083 | EDA | c.742-21C>G (n.742-21C>G) c.346-21C>G (n.346-21C>G) | gnomAD v4 |
| X | g.70030448C>T | CA2693979084 | EDA | c.742-21C>T (n.742-21C>T) c.346-21C>T (n.346-21C>T) | gnomAD v4 |
| X | g.70030449T>C | CA330952374 | EDA | c.742-20T>C (n.742-20T>C) c.346-20T>C (n.346-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70030449T= | CA2435980401 | EDA | c.742-20T= (n.742-20T=) c.346-20T= (n.346-20T=) | |
| X | g.70030450A>G | CA2545874131 | EDA | c.742-19A>G (n.742-19A>G) c.346-19A>G (n.346-19A>G) | |
| X | g.70030451T>C | CA2693979085 | EDA | c.742-18T>C (n.742-18T>C) c.346-18T>C (n.346-18T>C) | gnomAD v4 |
| X | g.70030451T>G | CA184418 | EDA | c.742-18T>G (n.742-18T>G) c.346-18T>G (n.346-18T>G) | ClinVar dbSNP |
| X | g.70030451T= | CA2435980402 | EDA | c.742-18T= (n.742-18T=) c.346-18T= (n.346-18T=) | |
| X | g.70030452C>A | CA2693979087 | EDA | c.742-17C>A (n.742-17C>A) c.346-17C>A (n.346-17C>A) | gnomAD v4 |
| X | g.70030452C>T | CA2693979086 | EDA | c.742-17C>T (n.742-17C>T) c.346-17C>T (n.346-17C>T) | gnomAD v4 |
| X | g.70030455_70030457del | CA2514488418 | EDA | c.742-14_742-12del (n.742-14_742-12del) c.346-14_346-12del (n.346-14_346-12del) | |
| X | g.70030454T>A | CA2693979088 | EDA | c.742-15T>A (n.742-15T>A) c.346-15T>A (n.346-15T>A) | gnomAD v4 |
| X | g.70030455T>C | CA2693979089 | EDA | c.742-14T>C (n.742-14T>C) c.346-14T>C (n.346-14T>C) | gnomAD v4 |
| X | g.70030455T>G | CA184118 | EDA | c.742-14T>G (n.742-14T>G) c.346-14T>G (n.346-14T>G) | ClinVar dbSNP |
| X | g.70030455T= | CA2435980403 | EDA | c.742-14T= (n.742-14T=) c.346-14T= (n.346-14T=) | |
| X | g.70030456_70030458del | CA2693979090 | EDA | c.742-13_742-11del (n.742-13_742-11del) c.346-13_346-11del (n.346-13_346-11del) | gnomAD v4 |
| X | g.70030457T>A | CA2693979092 | EDA | c.742-12T>A (n.742-12T>A) c.346-12T>A (n.346-12T>A) | gnomAD v4 |
| X | g.70030457T>C | CA2693979091 | EDA | c.742-12T>C (n.742-12T>C) c.346-12T>C (n.346-12T>C) | gnomAD v4 |
| X | g.70030458del | CA2579632511 | EDA | c.742-11del (n.742-11del) c.346-11del (n.346-11del) | gnomAD v4 |
| X | g.70030458C= | CA2435980404 | EDA | c.742-11C= (n.742-11C=) c.346-11C= (n.346-11C=) | |
| X | g.70030458C>T | CA133754 | EDA | c.742-11C>T (n.742-11C>T) c.346-11C>T (n.346-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030459A>C | CA2693979093 | EDA | c.742-10A>C (n.742-10A>C) c.346-10A>C (n.346-10A>C) | gnomAD v4 |
| X | g.70030463_70030466del | CA2693979094 | EDA | c.742-6_742-3del (n.742-6_742-3del) c.346-6_346-3del (n.346-6_346-3del) | gnomAD v4 |
| X | g.70030462C>A | CA2693979095 | EDA | c.742-7C>A (n.742-7C>A) c.346-7C>A (n.346-7C>A) | gnomAD v4 |
| X | g.70030463T>C | CA1134049830 | EDA | c.742-6T>C (n.742-6T>C) c.346-6T>C (n.346-6T>C) | gnomAD v3 gnomAD v4 |
| X | g.70030464G>A | CA2693979096 | EDA | c.742-5G>A (n.742-5G>A) c.346-5G>A (n.346-5G>A) | gnomAD v4 |
| X | g.70030464G>C | CA2525440477 | EDA | c.742-5G>C (n.742-5G>C) c.346-5G>C (n.346-5G>C) | |
| X | g.70030464G>T | CA2693979097 | EDA | c.742-5G>T (n.742-5G>T) c.346-5G>T (n.346-5G>T) | gnomAD v4 |
| X | g.70030465C>A | CA2435980406 | EDA | c.742-4C>A (n.742-4C>A) c.346-4C>A (n.346-4C>A) | dbSNP gnomAD v4 |
| X | g.70030465C= | CA2435980405 | EDA | c.742-4C= (n.742-4C=) c.346-4C= (n.346-4C=) | |
| X | g.70030465C>T | CA2557172307 | EDA | c.742-4C>T (n.742-4C>T) c.346-4C>T (n.346-4C>T) | |
| X | g.70030466del | CA2693979098 | EDA | c.742-3del (n.742-3del) c.346-3del (n.346-3del) | gnomAD v4 |
| X | g.70030466C>A | CA2693979099 | EDA | c.742-3C>A (n.742-3C>A) c.346-3C>A (n.346-3C>A) | gnomAD v4 |
| X | g.70030466C= | CA2435980407 | EDA | c.742-3C= (n.742-3C=) c.346-3C= (n.346-3C=) | |
| X | g.70030466C>T | CA2435980408 | EDA | c.742-3C>T (n.742-3C>T) c.346-3C>T (n.346-3C>T) | dbSNP |
| X | g.70030467A>C | CA413448628 | EDA | c.742-2A>C (n.742-2A>C) c.346-2A>C (n.346-2A>C) | |
| X | g.70030467A>G | CA413448629 | EDA | c.742-2A>G (n.742-2A>G) c.346-2A>G (n.346-2A>G) | gnomAD v4 |
| X | g.70030467A>T | CA413448630 | EDA | c.742-2A>T (n.742-2A>T) c.346-2A>T (n.346-2A>T) | |
| X | g.70030468G>A | CA413448631 | EDA | c.742-1G>A (n.742-1G>A) c.346-1G>A (n.346-1G>A) | gnomAD v4 |
| X | g.70030468G>C | CA413448632 | EDA | c.742-1G>C (n.742-1G>C) c.346-1G>C (n.346-1G>C) | |
| X | g.70030468G>T | CA413448633 | EDA | c.742-1G>T (n.742-1G>T) c.346-1G>T (n.346-1G>T) | |
| X | g.70030469C>A | CA413448634 | EDA | c.742C>A (p.Pro248Thr) c.346C>A (p.Pro116Thr) | gnomAD v4 |
| X | g.70030469C= | CA2435980409 | EDA | c.742C= (p.Pro248=) c.346C= (p.Pro116=) | |
| X | g.70030469C>G | CA413448635 | EDA | c.742C>G (p.Pro248Ala) c.346C>G (p.Pro116Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70030469C>T | CA413448636 | EDA | c.742C>T (p.Pro248Ser) c.346C>T (p.Pro116Ser) | |
| X | g.70030470C>A | CA413448637 | EDA | c.743C>A (p.Pro248Gln) c.347C>A (p.Pro116Gln) | |
| X | g.70030470C>G | CA413448639 | EDA | c.743C>G (p.Pro248Arg) c.347C>G (p.Pro116Arg) | |
| X | g.70030470C>T | CA413448638 | EDA | c.743C>T (p.Pro248Leu) c.347C>T (p.Pro116Leu) | gnomAD v4 |
| X | g.70030471A>C | CA517012950 | EDA | c.744A>C (p.Pro248=) c.348A>C (p.Pro116=) | |
| X | g.70030471A>G | CA517012952 | EDA | c.744A>G (p.Pro248=) c.348A>G (p.Pro116=) | ClinVar dbSNP gnomAD v4 |
| X | g.70030471A>T | CA517012953 | EDA | c.744A>T (p.Pro248=) c.348A>T (p.Pro116=) | |
| X | g.70030472G>A | CA413448640 | EDA | c.745G>A (p.Ala249Thr) c.349G>A (p.Ala117Thr) | |
| X | g.70030472G>C | CA413448642 | EDA | c.745G>C (p.Ala249Pro) c.349G>C (p.Ala117Pro) | |
| X | g.70030472G>T | CA413448641 | EDA | c.745G>T (p.Ala249Ser) c.349G>T (p.Ala117Ser) | |
| X | g.70030473C>A | CA413448643 | EDA | c.746C>A (p.Ala249Asp) c.350C>A (p.Ala117Asp) | |
| X | g.70030473C>G | CA413448644 | EDA | c.746C>G (p.Ala249Gly) c.350C>G (p.Ala117Gly) | |
| X | g.70030473C>T | CA413448645 | EDA | c.746C>T (p.Ala249Val) c.350C>T (p.Ala117Val) | gnomAD v4 |
| X | g.70030474T>A | CA517012957 | EDA | c.747T>A (p.Ala249=) c.351T>A (p.Ala117=) | |
| X | g.70030474T>C | CA517012960 | EDA | c.747T>C (p.Ala249=) c.351T>C (p.Ala117=) | |
| X | g.70030474T>G | CA517012961 | EDA | c.747T>G (p.Ala249=) c.351T>G (p.Ala117=) | |
| X | g.70030475G>A | CA413448646 | EDA | c.748G>A (p.Val250Met) c.352G>A (p.Val118Met) | |
| X | g.70030475G>C | CA413448647 | EDA | c.748G>C (p.Val250Leu) c.352G>C (p.Val118Leu) | |
| X | g.70030475G>T | CA413448648 | EDA | c.748G>T (p.Val250Leu) c.352G>T (p.Val118Leu) | gnomAD v4 |
| X | g.70030476T>A | CA413448649 | EDA | c.749T>A (p.Val250Glu) c.353T>A (p.Val118Glu) | |
| X | g.70030476T>C | CA413448650 | EDA | c.749T>C (p.Val250Ala) c.353T>C (p.Val118Ala) | |
| X | g.70030476T>G | CA413448651 | EDA | c.749T>G (p.Val250Gly) c.353T>G (p.Val118Gly) | |
| X | g.70030477G>A | CA517012974 | EDA | c.750G>A (p.Val250=) c.354G>A (p.Val118=) | |
| X | g.70030477G>C | CA517012972 | EDA | c.750G>C (p.Val250=) c.354G>C (p.Val118=) | |
| X | g.70030477G>T | CA517012971 | EDA | c.750G>T (p.Val250=) c.354G>T (p.Val118=) | gnomAD v4 |
| X | g.70030478G>A | CA413448652 | EDA | c.751G>A (p.Val251Met) c.355G>A (p.Val119Met) | |
| X | g.70030478G>C | CA413448653 | EDA | c.751G>C (p.Val251Leu) c.355G>C (p.Val119Leu) | |
| X | g.70030478G>T | CA413448654 | EDA | c.751G>T (p.Val251Leu) c.355G>T (p.Val119Leu) | |
| X | g.70030479T>A | CA413448655 | EDA | c.752T>A (p.Val251Glu) c.356T>A (p.Val119Glu) | |
| X | g.70030479T>C | CA413448657 | EDA | c.752T>C (p.Val251Ala) c.356T>C (p.Val119Ala) | |
| X | g.70030479T>G | CA413448656 | EDA | c.752T>G (p.Val251Gly) c.356T>G (p.Val119Gly) | |
| X | g.70030480G>A | CA517013039 | EDA | c.753G>A (p.Val251=) c.357G>A (p.Val119=) | gnomAD v4 |
| X | g.70030480G>C | CA517013042 | EDA | c.753G>C (p.Val251=) c.357G>C (p.Val119=) | |
| X | g.70030480G>T | CA517013044 | EDA | c.753G>T (p.Val251=) c.357G>T (p.Val119=) | ClinVar gnomAD v4 |
| X | g.70030481C>A | CA413448658 | EDA | c.754C>A (p.His252Asn) c.358C>A (p.His120Asn) | |
| X | g.70030481C>G | CA413448659 | EDA | c.754C>G (p.His252Asp) c.358C>G (p.His120Asp) | |
| X | g.70030481C>T | CA413448660 | EDA | c.754C>T (p.His252Tyr) c.358C>T (p.His120Tyr) | |
| X | g.70030482A= | CA2435980410 | EDA | c.755A= (p.His252=) c.359A= (p.His120=) | |
| X | g.70030482A>C | CA413448661 | EDA | c.755A>C (p.His252Pro) c.359A>C (p.His120Pro) | |
| X | g.70030482A>G | CA413448662 | EDA | c.755A>G (p.His252Arg) c.359A>G (p.His120Arg) | |
| X | g.70030482A>T | CA10586174 | EDA | c.755A>T (p.His252Leu) c.359A>T (p.His120Leu) | ClinVar dbSNP |
| X | g.70030483T>A | CA413448663 | EDA | c.756T>A (p.His252Gln) c.360T>A (p.His120Gln) | gnomAD v4 |
| X | g.70030483T>C | CA517013054 | EDA | c.756T>C (p.His252=) c.360T>C (p.His120=) | |
| X | g.70030483T>G | CA413448664 | EDA | c.756T>G (p.His252Gln) c.360T>G (p.His120Gln) | |
| X | g.70030484C>A | CA413448665 | EDA | c.757C>A (p.Leu253Ile) c.361C>A (p.Leu121Ile) | gnomAD v4 |
| X | g.70030484C= | CA2435980411 | EDA | c.757C= (p.Leu253=) c.361C= (p.Leu121=) | |
| X | g.70030484C>G | CA413448666 | EDA | c.757C>G (p.Leu253Val) c.361C>G (p.Leu121Val) | |
| X | g.70030484C>T | CA517013059 | EDA | c.757C>T (p.Leu253=) c.361C>T (p.Leu121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030485T>A | CA413448668 | EDA | c.758T>A (p.Leu253Gln) c.362T>A (p.Leu121Gln) | gnomAD v4 |
| X | g.70030485T>C | CA413448669 | EDA | c.758T>C (p.Leu253Pro) c.362T>C (p.Leu121Pro) | |
| X | g.70030485T>G | CA413448667 | EDA | c.758T>G (p.Leu253Arg) c.362T>G (p.Leu121Arg) | |
| X | g.70030486A= | CA2435980412 | EDA | c.759A= (p.Leu253=) c.363A= (p.Leu121=) | |
| X | g.70030486A>C | CA517013064 | EDA | c.759A>C (p.Leu253=) c.363A>C (p.Leu121=) | |
| X | g.70030486A>G | CA10438999 | EDA | c.759A>G (p.Leu253=) c.363A>G (p.Leu121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030486A>T | CA517013068 | EDA | c.759A>T (p.Leu253=) c.363A>T (p.Leu121=) | ClinVar |
| X | g.70030487C>A | CA413448670 | EDA | c.760C>A (p.Gln254Lys) c.364C>A (p.Gln122Lys) | |
| X | g.70030487C>G | CA413448671 | EDA | c.760C>G (p.Gln254Glu) c.364C>G (p.Gln122Glu) | |
| X | g.70030487C>T | CA413448672 | EDA | c.760C>T (p.Gln254Ter) c.364C>T (p.Gln122Ter) | ClinVar gnomAD v4 |
| X | g.70030488A>C | CA413448673 | EDA | c.761A>C (p.Gln254Pro) c.365A>C (p.Gln122Pro) | |
| X | g.70030488A>G | CA413448674 | EDA | c.761A>G (p.Gln254Arg) c.365A>G (p.Gln122Arg) | gnomAD v4 |
| X | g.70030488A>T | CA413448675 | EDA | c.761A>T (p.Gln254Leu) c.365A>T (p.Gln122Leu) | gnomAD v4 |
| X | g.70030489G>A | CA517013077 | EDA | c.762G>A (p.Gln254=) c.366G>A (p.Gln122=) | |
| X | g.70030489G>C | CA413448676 | EDA | c.762G>C (p.Gln254His) c.366G>C (p.Gln122His) | |
| X | g.70030489G>T | CA413448677 | EDA | c.762G>T (p.Gln254His) c.366G>T (p.Gln122His) | gnomAD v4 |
| X | g.70030491del | CA2693979100 | EDA | c.764del (p.Gly255AlafsTer25) c.368del (p.Gly123AlafsTer?) c.764del (p.Gly255AlafsTer22) c.368del (p.Gly123AlafsTer25) | gnomAD v4 |
| X | g.70030490G>A | CA413448678 | EDA | c.763G>A (p.Gly255Ser) c.367G>A (p.Gly123Ser) | |
| X | g.70030490G>C | CA413448679 | EDA | c.763G>C (p.Gly255Arg) c.367G>C (p.Gly123Arg) | |
| X | g.70030490G>T | CA413448680 | EDA | c.763G>T (p.Gly255Cys) c.367G>T (p.Gly123Cys) | gnomAD v4 |
| X | g.70030491G>A | CA16621473 | EDA | c.764G>A (p.Gly255Asp) c.368G>A (p.Gly123Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.70030491G>C | CA413448682 | EDA | c.764G>C (p.Gly255Ala) c.368G>C (p.Gly123Ala) | |
| X | g.70030491G= | CA2435980413 | EDA | c.764G= (p.Gly255=) c.368G= (p.Gly123=) | |
| X | g.70030491G>T | CA413448681 | EDA | c.764G>T (p.Gly255Val) c.368G>T (p.Gly123Val) | gnomAD v4 |
| X | g.70030492C>A | CA517013090 | EDA | c.765C>A (p.Gly255=) c.369C>A (p.Gly123=) | gnomAD v4 |
| X | g.70030492C>G | CA517013088 | EDA | c.765C>G (p.Gly255=) c.369C>G (p.Gly123=) | |
| X | g.70030492C>T | CA517013086 | EDA | c.765C>T (p.Gly255=) c.369C>T (p.Gly123=) | gnomAD v4 |
| X | g.70030493C>A | CA413448683 | EDA | c.766C>A (p.Gln256Lys) c.370C>A (p.Gln124Lys) | |
| X | g.70030493C= | CA2435980414 | EDA | c.766C= (p.Gln256=) c.370C= (p.Gln124=) | |
| X | g.70030493C>G | CA413448684 | EDA | c.766C>G (p.Gln256Glu) c.370C>G (p.Gln124Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030493C>T | CA273531 | EDA | c.766C>T (p.Gln256Ter) c.370C>T (p.Gln124Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.70030494A>C | CA413448685 | EDA | c.767A>C (p.Gln256Pro) c.371A>C (p.Gln124Pro) | |
| X | g.70030494A>G | CA413448686 | EDA | c.767A>G (p.Gln256Arg) c.371A>G (p.Gln124Arg) | gnomAD v4 |
| X | g.70030494A>T | CA413448687 | EDA | c.767A>T (p.Gln256Leu) c.371A>T (p.Gln124Leu) | |
| X | g.70030495A>C | CA413448688 | EDA | c.768A>C (p.Gln256His) c.372A>C (p.Gln124His) | |
| X | g.70030495A>G | CA517013101 | EDA | c.768A>G (p.Gln256=) c.372A>G (p.Gln124=) | |
| X | g.70030495A>T | CA413448689 | EDA | c.768A>T (p.Gln256His) c.372A>T (p.Gln124His) | gnomAD v4 |
| X | g.70030496G>A | CA413448690 | EDA | c.769G>A (p.Gly257Arg) c.373G>A (p.Gly125Arg) | |
| X | g.70030496G>C | CA16043329 | EDA | c.769G>C (p.Gly257Arg) c.373G>C (p.Gly125Arg) | ClinVar dbSNP |
| X | g.70030496G= | CA2435980415 | EDA | c.769G= (p.Gly257=) c.373G= (p.Gly125=) | |
| X | g.70030496G>T | CA413448691 | EDA | c.769G>T (p.Gly257Trp) c.373G>T (p.Gly125Trp) |