Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47406618T>A | CA97302415 | GABRB1 | c.836-64T>A (n.836-64T>A) c.815-64T>A (n.815-64T>A) c.185-64T>A (n.185-64T>A) c.737-64T>A (n.737-64T>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406618T>C | CA2670529680 | GABRB1 | c.836-64T>C (n.836-64T>C) c.815-64T>C (n.815-64T>C) c.185-64T>C (n.185-64T>C) c.737-64T>C (n.737-64T>C) | gnomAD v4 |
4 | g.47406618T= | CA1455320333 | GABRB1 | c.836-64T= (n.836-64T=) c.815-64T= (n.815-64T=) c.185-64T= (n.185-64T=) c.737-64T= (n.737-64T=) | |
4 | g.47406619C>A | CA2670529681 | GABRB1 | c.836-63C>A (n.836-63C>A) c.815-63C>A (n.815-63C>A) c.185-63C>A (n.185-63C>A) c.737-63C>A (n.737-63C>A) | gnomAD v4 |
4 | g.47406620A>G | CA2670529682 | GABRB1 | c.836-62A>G (n.836-62A>G) c.815-62A>G (n.815-62A>G) c.185-62A>G (n.185-62A>G) c.737-62A>G (n.737-62A>G) | gnomAD v4 |
4 | g.47406621A>G | CA649352867 | GABRB1 | c.836-61A>G (n.836-61A>G) c.815-61A>G (n.815-61A>G) c.185-61A>G (n.185-61A>G) c.737-61A>G (n.737-61A>G) | gnomAD v3 gnomAD v4 COSMIC |
4 | g.47406623dup | CA2670529683 | GABRB1 | c.836-59dup (n.836-59dup) c.815-59dup (n.815-59dup) c.185-59dup (n.185-59dup) c.737-59dup (n.737-59dup) | gnomAD v4 |
4 | g.47406626G>T | CA2670529684 | GABRB1 | c.836-56G>T (n.836-56G>T) c.815-56G>T (n.815-56G>T) c.185-56G>T (n.185-56G>T) c.737-56G>T (n.737-56G>T) | gnomAD v4 |
4 | g.47406631del | CA2670529685 | GABRB1 | c.836-51del (n.836-51del) c.815-51del (n.815-51del) c.185-51del (n.185-51del) c.737-51del (n.737-51del) | gnomAD v4 |
4 | g.47406632G>A | CA2670529688 | GABRB1 | c.836-50G>A (n.836-50G>A) c.815-50G>A (n.815-50G>A) c.185-50G>A (n.185-50G>A) c.737-50G>A (n.737-50G>A) | gnomAD v4 |
4 | g.47406632G>C | CA2670529686 | GABRB1 | c.836-50G>C (n.836-50G>C) c.815-50G>C (n.815-50G>C) c.185-50G>C (n.185-50G>C) c.737-50G>C (n.737-50G>C) | gnomAD v4 |
4 | g.47406632G>T | CA2670529687 | GABRB1 | c.836-50G>T (n.836-50G>T) c.815-50G>T (n.815-50G>T) c.185-50G>T (n.185-50G>T) c.737-50G>T (n.737-50G>T) | gnomAD v4 |
4 | g.47406633G>A | CA2670529689 | GABRB1 | c.836-49G>A (n.836-49G>A) c.815-49G>A (n.815-49G>A) c.185-49G>A (n.185-49G>A) c.737-49G>A (n.737-49G>A) | gnomAD v4 |
4 | g.47406633G>T | CA2670529690 | GABRB1 | c.836-49G>T (n.836-49G>T) c.815-49G>T (n.815-49G>T) c.185-49G>T (n.185-49G>T) c.737-49G>T (n.737-49G>T) | gnomAD v4 |
4 | g.47406634A>T | CA2670529691 | GABRB1 | c.836-48A>T (n.836-48A>T) c.815-48A>T (n.815-48A>T) c.185-48A>T (n.185-48A>T) c.737-48A>T (n.737-48A>T) | gnomAD v4 |
4 | g.47406636C>T | CA2670529692 | GABRB1 | c.836-46C>T (n.836-46C>T) c.815-46C>T (n.815-46C>T) c.185-46C>T (n.185-46C>T) c.737-46C>T (n.737-46C>T) | gnomAD v4 |
4 | g.47406637T>G | CA2670529693 | GABRB1 | c.836-45T>G (n.836-45T>G) c.815-45T>G (n.815-45T>G) c.185-45T>G (n.185-45T>G) c.737-45T>G (n.737-45T>G) | gnomAD v4 |
4 | g.47406638T>C | CA2907698 | GABRB1 | c.836-44T>C (n.836-44T>C) c.815-44T>C (n.815-44T>C) c.185-44T>C (n.185-44T>C) c.737-44T>C (n.737-44T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406638T= | CA1455320337 | GABRB1 | c.836-44T= (n.836-44T=) c.815-44T= (n.815-44T=) c.185-44T= (n.185-44T=) c.737-44T= (n.737-44T=) | |
4 | g.47406639A>C | CA2670529694 | GABRB1 | c.836-43A>C (n.836-43A>C) c.815-43A>C (n.815-43A>C) c.185-43A>C (n.185-43A>C) c.737-43A>C (n.737-43A>C) | gnomAD v4 |
4 | g.47406640A= | CA1455320340 | GABRB1 | c.836-42A= (n.836-42A=) c.815-42A= (n.815-42A=) c.185-42A= (n.185-42A=) c.737-42A= (n.737-42A=) | |
4 | g.47406640A>C | CA1061956094 | GABRB1 | c.836-42A>C (n.836-42A>C) c.815-42A>C (n.815-42A>C) c.185-42A>C (n.185-42A>C) c.737-42A>C (n.737-42A>C) | gnomAD v3 gnomAD v4 |
4 | g.47406640A>G | CA1455320339 | GABRB1 | c.836-42A>G (n.836-42A>G) c.815-42A>G (n.815-42A>G) c.185-42A>G (n.185-42A>G) c.737-42A>G (n.737-42A>G) | dbSNP |
4 | g.47406640A>T | CA2670529695 | GABRB1 | c.836-42A>T (n.836-42A>T) c.815-42A>T (n.815-42A>T) c.185-42A>T (n.185-42A>T) c.737-42A>T (n.737-42A>T) | gnomAD v4 |
4 | g.47406641T>C | CA2670529696 | GABRB1 | c.836-41T>C (n.836-41T>C) c.815-41T>C (n.815-41T>C) c.185-41T>C (n.185-41T>C) c.737-41T>C (n.737-41T>C) | gnomAD v4 |
4 | g.47406642A>G | CA2670529697 | GABRB1 | c.836-40A>G (n.836-40A>G) c.815-40A>G (n.815-40A>G) c.185-40A>G (n.185-40A>G) c.737-40A>G (n.737-40A>G) | gnomAD v4 |
4 | g.47406643G>A | CA97302416 | GABRB1 | c.836-39G>A (n.836-39G>A) c.815-39G>A (n.815-39G>A) c.185-39G>A (n.185-39G>A) c.737-39G>A (n.737-39G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406643G>C | CA2578079460 | GABRB1 | c.836-39G>C (n.836-39G>C) c.815-39G>C (n.815-39G>C) c.185-39G>C (n.185-39G>C) c.737-39G>C (n.737-39G>C) | |
4 | g.47406643G= | CA1455320342 | GABRB1 | c.836-39G= (n.836-39G=) c.815-39G= (n.815-39G=) c.185-39G= (n.185-39G=) c.737-39G= (n.737-39G=) | |
4 | g.47406644T>C | CA1061956095 | GABRB1 | c.836-38T>C (n.836-38T>C) c.815-38T>C (n.815-38T>C) c.185-38T>C (n.185-38T>C) c.737-38T>C (n.737-38T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406644T= | CA1455320344 | GABRB1 | c.836-38T= (n.836-38T=) c.815-38T= (n.815-38T=) c.185-38T= (n.185-38T=) c.737-38T= (n.737-38T=) | |
4 | g.47406645G>A | CA551310839 | GABRB1 | c.836-37G>A (n.836-37G>A) c.815-37G>A (n.815-37G>A) c.185-37G>A (n.185-37G>A) c.737-37G>A (n.737-37G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406645G= | CA1455320346 | GABRB1 | c.836-37G= (n.836-37G=) c.815-37G= (n.815-37G=) c.185-37G= (n.185-37G=) c.737-37G= (n.737-37G=) | |
4 | g.47406646G>A | CA1061956097 | GABRB1 | c.836-36G>A (n.836-36G>A) c.815-36G>A (n.815-36G>A) c.185-36G>A (n.185-36G>A) c.737-36G>A (n.737-36G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406646G= | CA1455320348 | GABRB1 | c.836-36G= (n.836-36G=) c.815-36G= (n.815-36G=) c.185-36G= (n.185-36G=) c.737-36G= (n.737-36G=) | |
4 | g.47406647C= | CA1455320350 | GABRB1 | c.836-35C= (n.836-35C=) c.815-35C= (n.815-35C=) c.185-35C= (n.185-35C=) c.737-35C= (n.737-35C=) | |
4 | g.47406647C>G | CA2670529698 | GABRB1 | c.836-35C>G (n.836-35C>G) c.815-35C>G (n.815-35C>G) c.185-35C>G (n.185-35C>G) c.737-35C>G (n.737-35C>G) | gnomAD v4 |
4 | g.47406647C>T | CA97302417 | GABRB1 | c.836-35C>T (n.836-35C>T) c.815-35C>T (n.815-35C>T) c.185-35C>T (n.185-35C>T) c.737-35C>T (n.737-35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406648A= | CA1455320352 | GABRB1 | c.836-34A= (n.836-34A=) c.815-34A= (n.815-34A=) c.185-34A= (n.185-34A=) c.737-34A= (n.737-34A=) | |
4 | g.47406648A>C | CA2581418179 | GABRB1 | c.836-34A>C (n.836-34A>C) c.815-34A>C (n.815-34A>C) c.185-34A>C (n.185-34A>C) c.737-34A>C (n.737-34A>C) | |
4 | g.47406648A>G | CA2907699 | GABRB1 | c.836-34A>G (n.836-34A>G) c.815-34A>G (n.815-34A>G) c.185-34A>G (n.185-34A>G) c.737-34A>G (n.737-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406648A>T | CA2581418178 | GABRB1 | c.836-34A>T (n.836-34A>T) c.815-34A>T (n.815-34A>T) c.185-34A>T (n.185-34A>T) c.737-34A>T (n.737-34A>T) | |
4 | g.47406649C>A | CA1455320357 | GABRB1 | c.836-33C>A (n.836-33C>A) c.815-33C>A (n.815-33C>A) c.185-33C>A (n.185-33C>A) c.737-33C>A (n.737-33C>A) | dbSNP gnomAD v4 |
4 | g.47406649C= | CA1455320355 | GABRB1 | c.836-33C= (n.836-33C=) c.815-33C= (n.815-33C=) c.185-33C= (n.185-33C=) c.737-33C= (n.737-33C=) | |
4 | g.47406649C>T | CA97302418 | GABRB1 | c.836-33C>T (n.836-33C>T) c.815-33C>T (n.815-33C>T) c.185-33C>T (n.185-33C>T) c.737-33C>T (n.737-33C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406650C= | CA1455320358 | GABRB1 | c.836-32C= (n.836-32C=) c.815-32C= (n.815-32C=) c.185-32C= (n.185-32C=) c.737-32C= (n.737-32C=) | |
4 | g.47406650C>T | CA551310840 | GABRB1 | c.836-32C>T (n.836-32C>T) c.815-32C>T (n.815-32C>T) c.185-32C>T (n.185-32C>T) c.737-32C>T (n.737-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406653C>G | CA2670529699 | GABRB1 | c.836-29C>G (n.836-29C>G) c.815-29C>G (n.815-29C>G) c.185-29C>G (n.185-29C>G) c.737-29C>G (n.737-29C>G) | gnomAD v4 |
4 | g.47406654A>C | CA2527653445 | GABRB1 | c.836-28A>C (n.836-28A>C) c.815-28A>C (n.815-28A>C) c.185-28A>C (n.185-28A>C) c.737-28A>C (n.737-28A>C) | gnomAD v4 |
4 | g.47406654A>G | CA649352871 | GABRB1 | c.836-28A>G (n.836-28A>G) c.815-28A>G (n.815-28A>G) c.185-28A>G (n.185-28A>G) c.737-28A>G (n.737-28A>G) | COSMIC |
4 | g.47406655G>A | CA1455320360 | GABRB1 | c.836-27G>A (n.836-27G>A) c.815-27G>A (n.815-27G>A) c.185-27G>A (n.185-27G>A) c.737-27G>A (n.737-27G>A) | dbSNP |
4 | g.47406655G= | CA1455320359 | GABRB1 | c.836-27G= (n.836-27G=) c.815-27G= (n.815-27G=) c.185-27G= (n.185-27G=) c.737-27G= (n.737-27G=) | |
4 | g.47406657T>A | CA2578079461 | GABRB1 | c.836-25T>A (n.836-25T>A) c.815-25T>A (n.815-25T>A) c.185-25T>A (n.185-25T>A) c.737-25T>A (n.737-25T>A) | gnomAD v4 |
4 | g.47406659A>C | CA2670529700 | GABRB1 | c.836-23A>C (n.836-23A>C) c.815-23A>C (n.815-23A>C) c.185-23A>C (n.185-23A>C) c.737-23A>C (n.737-23A>C) | gnomAD v4 |
4 | g.47406660G>C | CA551310841 | GABRB1 | c.836-22G>C (n.836-22G>C) c.815-22G>C (n.815-22G>C) c.185-22G>C (n.185-22G>C) c.737-22G>C (n.737-22G>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406660G= | CA1455320362 | GABRB1 | c.836-22G= (n.836-22G=) c.815-22G= (n.815-22G=) c.185-22G= (n.185-22G=) c.737-22G= (n.737-22G=) | |
4 | g.47406661T>C | CA1455320365 | GABRB1 | c.836-21T>C (n.836-21T>C) c.815-21T>C (n.815-21T>C) c.185-21T>C (n.185-21T>C) c.737-21T>C (n.737-21T>C) | dbSNP gnomAD v4 |
4 | g.47406661T= | CA1455320364 | GABRB1 | c.836-21T= (n.836-21T=) c.815-21T= (n.815-21T=) c.185-21T= (n.185-21T=) c.737-21T= (n.737-21T=) | |
4 | g.47406662G>A | CA2907700 | GABRB1 | c.836-20G>A (n.836-20G>A) c.815-20G>A (n.815-20G>A) c.185-20G>A (n.185-20G>A) c.737-20G>A (n.737-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406662G= | CA1455320367 | GABRB1 | c.836-20G= (n.836-20G=) c.815-20G= (n.815-20G=) c.185-20G= (n.185-20G=) c.737-20G= (n.737-20G=) | |
4 | g.47406663T>C | CA2907701 | GABRB1 | c.836-19T>C (n.836-19T>C) c.815-19T>C (n.815-19T>C) c.185-19T>C (n.185-19T>C) c.737-19T>C (n.737-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406663T= | CA1455320369 | GABRB1 | c.836-19T= (n.836-19T=) c.815-19T= (n.815-19T=) c.185-19T= (n.185-19T=) c.737-19T= (n.737-19T=) | |
4 | g.47406664T>C | CA2670529701 | GABRB1 | c.836-18T>C (n.836-18T>C) c.815-18T>C (n.815-18T>C) c.185-18T>C (n.185-18T>C) c.737-18T>C (n.737-18T>C) | gnomAD v4 |
4 | g.47406665G>A | CA2907702 | GABRB1 | c.836-17G>A (n.836-17G>A) c.815-17G>A (n.815-17G>A) c.185-17G>A (n.185-17G>A) c.737-17G>A (n.737-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47406665G= | CA1455320371 | GABRB1 | c.836-17G= (n.836-17G=) c.815-17G= (n.815-17G=) c.185-17G= (n.185-17G=) c.737-17G= (n.737-17G=) | |
4 | g.47406665G>T | CA2670529702 | GABRB1 | c.836-17G>T (n.836-17G>T) c.815-17G>T (n.815-17G>T) c.185-17G>T (n.185-17G>T) c.737-17G>T (n.737-17G>T) | gnomAD v4 |
4 | g.47406666T>C | CA97302419 | GABRB1 | c.836-16T>C (n.836-16T>C) c.815-16T>C (n.815-16T>C) c.185-16T>C (n.185-16T>C) c.737-16T>C (n.737-16T>C) | dbSNP gnomAD v4 |
4 | g.47406666T= | CA1455320374 | GABRB1 | c.836-16T= (n.836-16T=) c.815-16T= (n.815-16T=) c.185-16T= (n.185-16T=) c.737-16T= (n.737-16T=) | |
4 | g.47406667C= | CA1455320377 | GABRB1 | c.836-15C= (n.836-15C=) c.815-15C= (n.815-15C=) c.185-15C= (n.185-15C=) c.737-15C= (n.737-15C=) | |
4 | g.47406667C>G | CA1455320379 | GABRB1 | c.836-15C>G (n.836-15C>G) c.815-15C>G (n.815-15C>G) c.185-15C>G (n.185-15C>G) c.737-15C>G (n.737-15C>G) | dbSNP gnomAD v4 |
4 | g.47406671C>T | CA2578079462 | GABRB1 | c.836-11C>T (n.836-11C>T) c.815-11C>T (n.815-11C>T) c.185-11C>T (n.185-11C>T) c.737-11C>T (n.737-11C>T) | gnomAD v4 |
4 | g.47406672T>C | CA2670529703 | GABRB1 | c.836-10T>C (n.836-10T>C) c.815-10T>C (n.815-10T>C) c.185-10T>C (n.185-10T>C) c.737-10T>C (n.737-10T>C) | gnomAD v4 |
4 | g.47406672T>G | CA2761320708 | GABRB1 | c.836-10T>G (n.836-10T>G) c.815-10T>G (n.815-10T>G) c.185-10T>G (n.185-10T>G) c.737-10T>G (n.737-10T>G) | |
4 | g.47406673C= | CA1455320381 | GABRB1 | c.836-9C= (n.836-9C=) c.815-9C= (n.815-9C=) c.185-9C= (n.185-9C=) c.737-9C= (n.737-9C=) | |
4 | g.47406673C>G | CA1455320384 | GABRB1 | c.836-9C>G (n.836-9C>G) c.815-9C>G (n.815-9C>G) c.185-9C>G (n.185-9C>G) c.737-9C>G (n.737-9C>G) | ClinVar dbSNP gnomAD v4 |
4 | g.47406673C>T | CA1455320382 | GABRB1 | c.836-9C>T (n.836-9C>T) c.815-9C>T (n.815-9C>T) c.185-9C>T (n.185-9C>T) c.737-9C>T (n.737-9C>T) | dbSNP |
4 | g.47406674T>C | CA1455320388 | GABRB1 | c.836-8T>C (n.836-8T>C) c.815-8T>C (n.815-8T>C) c.185-8T>C (n.185-8T>C) c.737-8T>C (n.737-8T>C) | dbSNP gnomAD v4 |
4 | g.47406674T= | CA1455320386 | GABRB1 | c.836-8T= (n.836-8T=) c.815-8T= (n.815-8T=) c.185-8T= (n.185-8T=) c.737-8T= (n.737-8T=) | |
4 | g.47406675T>G | CA2907703 | GABRB1 | c.836-7T>G (n.836-7T>G) c.815-7T>G (n.815-7T>G) c.185-7T>G (n.185-7T>G) c.737-7T>G (n.737-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47406675T= | CA1455320390 | GABRB1 | c.836-7T= (n.836-7T=) c.815-7T= (n.815-7T=) c.185-7T= (n.185-7T=) c.737-7T= (n.737-7T=) | |
4 | g.47406677C>T | CA2578079463 | GABRB1 | c.836-5C>T (n.836-5C>T) c.815-5C>T (n.815-5C>T) c.185-5C>T (n.185-5C>T) c.737-5C>T (n.737-5C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406678A>G | CA2670529704 | GABRB1 | c.836-4A>G (n.836-4A>G) c.815-4A>G (n.815-4A>G) c.185-4A>G (n.185-4A>G) c.737-4A>G (n.737-4A>G) | gnomAD v4 |
4 | g.47406680A>C | CA356811177 | GABRB1 | c.836-2A>C (n.836-2A>C) c.815-2A>C (n.815-2A>C) c.185-2A>C (n.185-2A>C) c.737-2A>C (n.737-2A>C) | |
4 | g.47406680A>G | CA356811179 | GABRB1 | c.836-2A>G (n.836-2A>G) c.815-2A>G (n.815-2A>G) c.185-2A>G (n.185-2A>G) c.737-2A>G (n.737-2A>G) | |
4 | g.47406680A>T | CA356811180 | GABRB1 | c.836-2A>T (n.836-2A>T) c.815-2A>T (n.815-2A>T) c.185-2A>T (n.185-2A>T) c.737-2A>T (n.737-2A>T) | |
4 | g.47406681G>A | CA356811181 | GABRB1 | c.836-1G>A (n.836-1G>A) c.815-1G>A (n.815-1G>A) c.185-1G>A (n.185-1G>A) c.737-1G>A (n.737-1G>A) | gnomAD v4 |
4 | g.47406681G>C | CA356811183 | GABRB1 | c.836-1G>C (n.836-1G>C) c.815-1G>C (n.815-1G>C) c.185-1G>C (n.185-1G>C) c.737-1G>C (n.737-1G>C) | |
4 | g.47406681G>T | CA356811185 | GABRB1 | c.836-1G>T (n.836-1G>T) c.815-1G>T (n.815-1G>T) c.185-1G>T (n.185-1G>T) c.737-1G>T (n.737-1G>T) | |
4 | g.47406682G>A | CA356811191 | GABRB1 | c.836G>A (p.Gly279Glu) c.815G>A (p.Gly272Glu) c.185G>A (p.Gly62Glu) c.737G>A (p.Gly246Glu) | |
4 | g.47406682G>C | CA356811189 | GABRB1 | c.836G>C (p.Gly279Ala) c.815G>C (p.Gly272Ala) c.185G>C (p.Gly62Ala) c.737G>C (p.Gly246Ala) | |
4 | g.47406682G>T | CA356811187 | GABRB1 | c.836G>T (p.Gly279Val) c.815G>T (p.Gly272Val) c.185G>T (p.Gly62Val) c.737G>T (p.Gly246Val) | |
4 | g.47406683A= | CA1455320393 | GABRB1 | c.837A= (p.Gly279=) c.816A= (p.Gly272=) c.186A= (p.Gly62=) c.738A= (p.Gly246=) | |
4 | g.47406683A>C | CA439245677 | GABRB1 | c.837A>C (p.Gly279=) c.816A>C (p.Gly272=) c.186A>C (p.Gly62=) c.738A>C (p.Gly246=) | |
4 | g.47406683A>G | CA439245678 | GABRB1 | c.837A>G (p.Gly279=) c.816A>G (p.Gly272=) c.186A>G (p.Gly62=) c.738A>G (p.Gly246=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406683A>T | CA439245679 | GABRB1 | c.837A>T (p.Gly279=) c.816A>T (p.Gly272=) c.186A>T (p.Gly62=) c.738A>T (p.Gly246=) | |
4 | g.47406684A>C | CA356811193 | GABRB1 | c.838A>C (p.Ile280Leu) c.817A>C (p.Ile273Leu) c.187A>C (p.Ile63Leu) c.739A>C (p.Ile247Leu) | |
4 | g.47406684A>G | CA356811194 | GABRB1 | c.838A>G (p.Ile280Val) c.817A>G (p.Ile273Val) c.187A>G (p.Ile63Val) c.739A>G (p.Ile247Val) | |
4 | g.47406684A>T | CA356811197 | GABRB1 | c.838A>T (p.Ile280Phe) c.817A>T (p.Ile273Phe) c.187A>T (p.Ile63Phe) c.739A>T (p.Ile247Phe) | |
4 | g.47406685T>A | CA356811199 | GABRB1 | c.839T>A (p.Ile280Asn) c.818T>A (p.Ile273Asn) c.188T>A (p.Ile63Asn) c.740T>A (p.Ile247Asn) | |
4 | g.47406685T>C | CA356811201 | GABRB1 | c.839T>C (p.Ile280Thr) c.818T>C (p.Ile273Thr) c.188T>C (p.Ile63Thr) c.740T>C (p.Ile247Thr) | |
4 | g.47406685T>G | CA356811203 | GABRB1 | c.839T>G (p.Ile280Ser) c.818T>G (p.Ile273Ser) c.188T>G (p.Ile63Ser) c.740T>G (p.Ile247Ser) | |
4 | g.47406686C>A | CA439245680 | GABRB1 | c.840C>A (p.Ile280=) c.819C>A (p.Ile273=) c.189C>A (p.Ile63=) c.741C>A (p.Ile247=) | |
4 | g.47406686C>G | CA356811204 | GABRB1 | c.840C>G (p.Ile280Met) c.819C>G (p.Ile273Met) c.189C>G (p.Ile63Met) c.741C>G (p.Ile247Met) | |
4 | g.47406686C>T | CA439245681 | GABRB1 | c.840C>T (p.Ile280=) c.819C>T (p.Ile273=) c.189C>T (p.Ile63=) c.741C>T (p.Ile247=) | |
4 | g.47406687A>C | CA356811205 | GABRB1 | c.841A>C (p.Thr281Pro) c.820A>C (p.Thr274Pro) c.190A>C (p.Thr64Pro) c.742A>C (p.Thr248Pro) | |
4 | g.47406687A>G | CA356811207 | GABRB1 | c.841A>G (p.Thr281Ala) c.820A>G (p.Thr274Ala) c.190A>G (p.Thr64Ala) c.742A>G (p.Thr248Ala) | |
4 | g.47406687A>T | CA356811209 | GABRB1 | c.841A>T (p.Thr281Ser) c.820A>T (p.Thr274Ser) c.190A>T (p.Thr64Ser) c.742A>T (p.Thr248Ser) | |
4 | g.47406688C>A | CA356811211 | GABRB1 | c.842C>A (p.Thr281Lys) c.821C>A (p.Thr274Lys) c.191C>A (p.Thr64Lys) c.743C>A (p.Thr248Lys) | |
4 | g.47406688C= | CA1455320395 | GABRB1 | c.842C= (p.Thr281=) c.821C= (p.Thr274=) c.191C= (p.Thr64=) c.743C= (p.Thr248=) | |
4 | g.47406688C>G | CA356811213 | GABRB1 | c.842C>G (p.Thr281Arg) c.821C>G (p.Thr274Arg) c.191C>G (p.Thr64Arg) c.743C>G (p.Thr248Arg) | |
4 | g.47406688C>T | CA356811215 | GABRB1 | c.842C>T (p.Thr281Met) c.821C>T (p.Thr274Met) c.191C>T (p.Thr64Met) c.743C>T (p.Thr248Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406689G>A | CA2907704 | GABRB1 | c.843G>A (p.Thr281=) c.822G>A (p.Thr274=) c.192G>A (p.Thr64=) c.744G>A (p.Thr248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406689G>C | CA439245683 | GABRB1 | c.843G>C (p.Thr281=) c.822G>C (p.Thr274=) c.192G>C (p.Thr64=) c.744G>C (p.Thr248=) | |
4 | g.47406689G= | CA1455320398 | GABRB1 | c.843G= (p.Thr281=) c.822G= (p.Thr274=) c.192G= (p.Thr64=) c.744G= (p.Thr248=) | |
4 | g.47406689G>T | CA439245682 | GABRB1 | c.843G>T (p.Thr281=) c.822G>T (p.Thr274=) c.192G>T (p.Thr64=) c.744G>T (p.Thr248=) | gnomAD v4 |
4 | g.47406690A>C | CA356811222 | GABRB1 | c.844A>C (p.Thr282Pro) c.823A>C (p.Thr275Pro) c.193A>C (p.Thr65Pro) c.745A>C (p.Thr249Pro) | |
4 | g.47406690A>G | CA356811218 | GABRB1 | c.844A>G (p.Thr282Ala) c.823A>G (p.Thr275Ala) c.193A>G (p.Thr65Ala) c.745A>G (p.Thr249Ala) | |
4 | g.47406690A>T | CA356811220 | GABRB1 | c.844A>T (p.Thr282Ser) c.823A>T (p.Thr275Ser) c.193A>T (p.Thr65Ser) c.745A>T (p.Thr249Ser) | |
4 | g.47406691C>A | CA356811223 | GABRB1 | c.845C>A (p.Thr282Lys) c.824C>A (p.Thr275Lys) c.194C>A (p.Thr65Lys) c.746C>A (p.Thr249Lys) | |
4 | g.47406691C>G | CA356811225 | GABRB1 | c.845C>G (p.Thr282Arg) c.824C>G (p.Thr275Arg) c.194C>G (p.Thr65Arg) c.746C>G (p.Thr249Arg) | |
4 | g.47406691C>T | CA356811227 | GABRB1 | c.845C>T (p.Thr282Ile) c.824C>T (p.Thr275Ile) c.194C>T (p.Thr65Ile) c.746C>T (p.Thr249Ile) | |
4 | g.47406692A= | CA1455320400 | GABRB1 | c.846A= (p.Thr282=) c.825A= (p.Thr275=) c.195A= (p.Thr65=) c.747A= (p.Thr249=) | |
4 | g.47406692A>C | CA439245684 | GABRB1 | c.846A>C (p.Thr282=) c.825A>C (p.Thr275=) c.195A>C (p.Thr65=) c.747A>C (p.Thr249=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406692A>G | CA2907705 | GABRB1 | c.846A>G (p.Thr282=) c.825A>G (p.Thr275=) c.195A>G (p.Thr65=) c.747A>G (p.Thr249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406692A>T | CA2907706 | GABRB1 | c.846A>T (p.Thr282=) c.825A>T (p.Thr275=) c.195A>T (p.Thr65=) c.747A>T (p.Thr249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47406693G>A | CA356811229 | GABRB1 | c.847G>A (p.Val283Met) c.826G>A (p.Val276Met) c.196G>A (p.Val66Met) c.748G>A (p.Val250Met) | |
4 | g.47406693G>C | CA356811230 | GABRB1 | c.847G>C (p.Val283Leu) c.826G>C (p.Val276Leu) c.196G>C (p.Val66Leu) c.748G>C (p.Val250Leu) | |
4 | g.47406693G>T | CA356811231 | GABRB1 | c.847G>T (p.Val283Leu) c.826G>T (p.Val276Leu) c.196G>T (p.Val66Leu) c.748G>T (p.Val250Leu) | |
4 | g.47406694T>A | CA356811232 | GABRB1 | c.848T>A (p.Val283Glu) c.827T>A (p.Val276Glu) c.197T>A (p.Val66Glu) c.749T>A (p.Val250Glu) | |
4 | g.47406694T>C | CA356811233 | GABRB1 | c.848T>C (p.Val283Ala) c.827T>C (p.Val276Ala) c.197T>C (p.Val66Ala) c.749T>C (p.Val250Ala) | |
4 | g.47406694T>G | CA356811234 | GABRB1 | c.848T>G (p.Val283Gly) c.827T>G (p.Val276Gly) c.197T>G (p.Val66Gly) c.749T>G (p.Val250Gly) | |
4 | g.47406695G>A | CA439245685 | GABRB1 | c.849G>A (p.Val283=) c.828G>A (p.Val276=) c.198G>A (p.Val66=) c.750G>A (p.Val250=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406695G>C | CA439245686 | GABRB1 | c.849G>C (p.Val283=) c.828G>C (p.Val276=) c.198G>C (p.Val66=) c.750G>C (p.Val250=) | |
4 | g.47406695G>T | CA439245687 | GABRB1 | c.849G>T (p.Val283=) c.828G>T (p.Val276=) c.198G>T (p.Val66=) c.750G>T (p.Val250=) | |
4 | g.47406696C>A | CA356811237 | GABRB1 | c.850C>A (p.Leu284Ile) c.829C>A (p.Leu277Ile) c.199C>A (p.Leu67Ile) c.751C>A (p.Leu251Ile) | |
4 | g.47406696C>G | CA356811235 | GABRB1 | c.850C>G (p.Leu284Val) c.829C>G (p.Leu277Val) c.199C>G (p.Leu67Val) c.751C>G (p.Leu251Val) | |
4 | g.47406696C>T | CA356811236 | GABRB1 | c.850C>T (p.Leu284Phe) c.829C>T (p.Leu277Phe) c.199C>T (p.Leu67Phe) c.751C>T (p.Leu251Phe) | |
4 | g.47406697T>A | CA356811238 | GABRB1 | c.851T>A (p.Leu284His) c.830T>A (p.Leu277His) c.200T>A (p.Leu67His) c.752T>A (p.Leu251His) | |
4 | g.47406697T>C | CA356811239 | GABRB1 | c.851T>C (p.Leu284Pro) c.830T>C (p.Leu277Pro) c.200T>C (p.Leu67Pro) c.752T>C (p.Leu251Pro) | |
4 | g.47406697T>G | CA356811240 | GABRB1 | c.851T>G (p.Leu284Arg) c.830T>G (p.Leu277Arg) c.200T>G (p.Leu67Arg) c.752T>G (p.Leu251Arg) | |
4 | g.47406698T>A | CA439245688 | GABRB1 | c.852T>A (p.Leu284=) c.831T>A (p.Leu277=) c.201T>A (p.Leu67=) c.753T>A (p.Leu251=) | |
4 | g.47406698T>C | CA439245689 | GABRB1 | c.852T>C (p.Leu284=) c.831T>C (p.Leu277=) c.201T>C (p.Leu67=) c.753T>C (p.Leu251=) | |
4 | g.47406698T>G | CA439245690 | GABRB1 | c.852T>G (p.Leu284=) c.831T>G (p.Leu277=) c.201T>G (p.Leu67=) c.753T>G (p.Leu251=) | |
4 | g.47406699A>C | CA356811241 | GABRB1 | c.853A>C (p.Thr285Pro) c.832A>C (p.Thr278Pro) c.202A>C (p.Thr68Pro) c.754A>C (p.Thr252Pro) | |
4 | g.47406699A>G | CA356811242 | GABRB1 | c.853A>G (p.Thr285Ala) c.832A>G (p.Thr278Ala) c.202A>G (p.Thr68Ala) c.754A>G (p.Thr252Ala) | gnomAD v4 |
4 | g.47406699A>T | CA356811243 | GABRB1 | c.853A>T (p.Thr285Ser) c.832A>T (p.Thr278Ser) c.202A>T (p.Thr68Ser) c.754A>T (p.Thr252Ser) | |
4 | g.47406700C>A | CA356811244 | GABRB1 | c.854C>A (p.Thr285Lys) c.833C>A (p.Thr278Lys) c.203C>A (p.Thr68Lys) c.755C>A (p.Thr252Lys) | ClinVar dbSNP |
4 | g.47406700C= | CA1455320412 | GABRB1 | c.854C= (p.Thr285=) c.833C= (p.Thr278=) c.203C= (p.Thr68=) c.755C= (p.Thr252=) | |
4 | g.47406700C>G | CA356811245 | GABRB1 | c.854C>G (p.Thr285Arg) c.833C>G (p.Thr278Arg) c.203C>G (p.Thr68Arg) c.755C>G (p.Thr252Arg) | |
4 | g.47406700C>T | CA356811246 | GABRB1 | c.854C>T (p.Thr285Ile) c.833C>T (p.Thr278Ile) c.203C>T (p.Thr68Ile) c.755C>T (p.Thr252Ile) | |
4 | g.47406701A>C | CA439245691 | GABRB1 | c.855A>C (p.Thr285=) c.834A>C (p.Thr278=) c.204A>C (p.Thr68=) c.756A>C (p.Thr252=) | |
4 | g.47406701A>G | CA439245692 | GABRB1 | c.855A>G (p.Thr285=) c.834A>G (p.Thr278=) c.204A>G (p.Thr68=) c.756A>G (p.Thr252=) | |
4 | g.47406701A>T | CA439245693 | GABRB1 | c.855A>T (p.Thr285=) c.834A>T (p.Thr278=) c.204A>T (p.Thr68=) c.756A>T (p.Thr252=) | |
4 | g.47406702A>C | CA356811247 | GABRB1 | c.856A>C (p.Met286Leu) c.835A>C (p.Met279Leu) c.205A>C (p.Met69Leu) c.757A>C (p.Met253Leu) | |
4 | g.47406702A>G | CA356811248 | GABRB1 | c.856A>G (p.Met286Val) c.835A>G (p.Met279Val) c.205A>G (p.Met69Val) c.757A>G (p.Met253Val) | |
4 | g.47406702A>T | CA356811249 | GABRB1 | c.856A>T (p.Met286Leu) c.835A>T (p.Met279Leu) c.205A>T (p.Met69Leu) c.757A>T (p.Met253Leu) | |
4 | g.47406703T>A | CA356811252 | GABRB1 | c.857T>A (p.Met286Lys) c.836T>A (p.Met279Lys) c.206T>A (p.Met69Lys) c.758T>A (p.Met253Lys) | |
4 | g.47406703T>C | CA356811251 | GABRB1 | c.857T>C (p.Met286Thr) c.836T>C (p.Met279Thr) c.206T>C (p.Met69Thr) c.758T>C (p.Met253Thr) | |
4 | g.47406703T>G | CA356811250 | GABRB1 | c.857T>G (p.Met286Arg) c.836T>G (p.Met279Arg) c.206T>G (p.Met69Arg) c.758T>G (p.Met253Arg) | |
4 | g.47406704G>A | CA356811255 | GABRB1 | c.858G>A (p.Met286Ile) c.837G>A (p.Met279Ile) c.207G>A (p.Met69Ile) c.759G>A (p.Met253Ile) | |
4 | g.47406704G>C | CA356811253 | GABRB1 | c.858G>C (p.Met286Ile) c.837G>C (p.Met279Ile) c.207G>C (p.Met69Ile) c.759G>C (p.Met253Ile) | |
4 | g.47406704G>T | CA356811254 | GABRB1 | c.858G>T (p.Met286Ile) c.837G>T (p.Met279Ile) c.207G>T (p.Met69Ile) c.759G>T (p.Met253Ile) | |
4 | g.47406705A>C | CA356811256 | GABRB1 | c.859A>C (p.Thr287Pro) c.838A>C (p.Thr280Pro) c.208A>C (p.Thr70Pro) c.760A>C (p.Thr254Pro) | |
4 | g.47406705A>G | CA356811257 | GABRB1 | c.859A>G (p.Thr287Ala) c.838A>G (p.Thr280Ala) c.208A>G (p.Thr70Ala) c.760A>G (p.Thr254Ala) | |
4 | g.47406705A>T | CA356811258 | GABRB1 | c.859A>T (p.Thr287Ser) c.838A>T (p.Thr280Ser) c.208A>T (p.Thr70Ser) c.760A>T (p.Thr254Ser) | |
4 | g.47406706C>A | CA356811259 | GABRB1 | c.860C>A (p.Thr287Lys) c.839C>A (p.Thr280Lys) c.209C>A (p.Thr70Lys) c.761C>A (p.Thr254Lys) | COSMIC |
4 | g.47406706C= | CA1455320415 | GABRB1 | c.860C= (p.Thr287=) c.839C= (p.Thr280=) c.209C= (p.Thr70=) c.761C= (p.Thr254=) | |
4 | g.47406706C>G | CA356811260 | GABRB1 | c.860C>G (p.Thr287Arg) c.839C>G (p.Thr280Arg) c.209C>G (p.Thr70Arg) c.761C>G (p.Thr254Arg) | |
4 | g.47406706C>T | CA10588847 | GABRB1 | c.860C>T (p.Thr287Ile) c.839C>T (p.Thr280Ile) c.209C>T (p.Thr70Ile) c.761C>T (p.Thr254Ile) | ClinVar dbSNP |
4 | g.47406707A>C | CA439245694 | GABRB1 | c.861A>C (p.Thr287=) c.840A>C (p.Thr280=) c.210A>C (p.Thr70=) c.762A>C (p.Thr254=) | gnomAD v4 |
4 | g.47406707A>G | CA439245695 | GABRB1 | c.861A>G (p.Thr287=) c.840A>G (p.Thr280=) c.210A>G (p.Thr70=) c.762A>G (p.Thr254=) | |
4 | g.47406707A>T | CA439245696 | GABRB1 | c.861A>T (p.Thr287=) c.840A>T (p.Thr280=) c.210A>T (p.Thr70=) c.762A>T (p.Thr254=) | |
4 | g.47406708A>C | CA356811261 | GABRB1 | c.862A>C (p.Thr288Pro) c.841A>C (p.Thr281Pro) c.211A>C (p.Thr71Pro) c.763A>C (p.Thr255Pro) | |
4 | g.47406708A>G | CA356811263 | GABRB1 | c.862A>G (p.Thr288Ala) c.841A>G (p.Thr281Ala) c.211A>G (p.Thr71Ala) c.763A>G (p.Thr255Ala) | ClinVar |
4 | g.47406708A>T | CA356811262 | GABRB1 | c.862A>T (p.Thr288Ser) c.841A>T (p.Thr281Ser) c.211A>T (p.Thr71Ser) c.763A>T (p.Thr255Ser) | |
4 | g.47406709C>A | CA356811264 | GABRB1 | c.863C>A (p.Thr288Asn) c.842C>A (p.Thr281Asn) c.212C>A (p.Thr71Asn) c.764C>A (p.Thr255Asn) | |
4 | g.47406709C>G | CA356811265 | GABRB1 | c.863C>G (p.Thr288Ser) c.842C>G (p.Thr281Ser) c.212C>G (p.Thr71Ser) c.764C>G (p.Thr255Ser) | |
4 | g.47406709C>T | CA356811266 | GABRB1 | c.863C>T (p.Thr288Ile) c.842C>T (p.Thr281Ile) c.212C>T (p.Thr71Ile) c.764C>T (p.Thr255Ile) | |
4 | g.47406710C>A | CA97302420 | GABRB1 | c.864C>A (p.Thr288=) c.843C>A (p.Thr281=) c.213C>A (p.Thr71=) c.765C>A (p.Thr255=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47406710C= | CA1455320419 | GABRB1 | c.864C= (p.Thr288=) c.843C= (p.Thr281=) c.213C= (p.Thr71=) c.765C= (p.Thr255=) | |
4 | g.47406710C>G | CA439245697 | GABRB1 | c.864C>G (p.Thr288=) c.843C>G (p.Thr281=) c.213C>G (p.Thr71=) c.765C>G (p.Thr255=) | |
4 | g.47406710C>T | CA439245698 | GABRB1 | c.864C>T (p.Thr288=) c.843C>T (p.Thr281=) c.213C>T (p.Thr71=) c.765C>T (p.Thr255=) | |
4 | g.47406711A>C | CA356811267 | GABRB1 | c.865A>C (p.Ile289Leu) c.844A>C (p.Ile282Leu) c.214A>C (p.Ile72Leu) c.766A>C (p.Ile256Leu) | |
4 | g.47406711A>G | CA356811269 | GABRB1 | c.865A>G (p.Ile289Val) c.844A>G (p.Ile282Val) c.214A>G (p.Ile72Val) c.766A>G (p.Ile256Val) | |
4 | g.47406711A>T | CA356811268 | GABRB1 | c.865A>T (p.Ile289Phe) c.844A>T (p.Ile282Phe) c.214A>T (p.Ile72Phe) c.766A>T (p.Ile256Phe) | |
4 | g.47406712T>A | CA2907707 | GABRB1 | c.866T>A (p.Ile289Asn) c.845T>A (p.Ile282Asn) c.215T>A (p.Ile72Asn) c.767T>A (p.Ile256Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47406712T>C | CA356811270 | GABRB1 | c.866T>C (p.Ile289Thr) c.845T>C (p.Ile282Thr) c.215T>C (p.Ile72Thr) c.767T>C (p.Ile256Thr) | ClinVar gnomAD v3 gnomAD v4 |
4 | g.47406712T>G | CA356811271 | GABRB1 | c.866T>G (p.Ile289Ser) c.845T>G (p.Ile282Ser) c.215T>G (p.Ile72Ser) c.767T>G (p.Ile256Ser) | |
4 | g.47406712T= | CA1455320421 | GABRB1 | c.866T= (p.Ile289=) c.845T= (p.Ile282=) c.215T= (p.Ile72=) c.767T= (p.Ile256=) | |
4 | g.47406713C>A | CA439245741 | GABRB1 | c.867C>A (p.Ile289=) c.846C>A (p.Ile282=) c.216C>A (p.Ile72=) c.768C>A (p.Ile256=) | |
4 | g.47406713C= | CA1455320426 | GABRB1 | c.867C= (p.Ile289=) c.846C= (p.Ile282=) c.216C= (p.Ile72=) c.768C= (p.Ile256=) | |
4 | g.47406713C>G | CA356811272 | GABRB1 | c.867C>G (p.Ile289Met) c.846C>G (p.Ile282Met) c.216C>G (p.Ile72Met) c.768C>G (p.Ile256Met) | |
4 | g.47406713C>T | CA439245742 | GABRB1 | c.867C>T (p.Ile289=) c.846C>T (p.Ile282=) c.216C>T (p.Ile72=) c.768C>T (p.Ile256=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47406714A>C | CA356811273 | GABRB1 | c.868A>C (p.Ser290Arg) c.847A>C (p.Ser283Arg) c.217A>C (p.Ser73Arg) c.769A>C (p.Ser257Arg) | |
4 | g.47406714A>G | CA356811274 | GABRB1 | c.868A>G (p.Ser290Gly) c.847A>G (p.Ser283Gly) c.217A>G (p.Ser73Gly) c.769A>G (p.Ser257Gly) | |
4 | g.47406714A>T | CA356811275 | GABRB1 | c.868A>T (p.Ser290Cys) c.847A>T (p.Ser283Cys) c.217A>T (p.Ser73Cys) c.769A>T (p.Ser257Cys) | |
4 | g.47406715G>A | CA356811276 | GABRB1 | c.869G>A (p.Ser290Asn) c.848G>A (p.Ser283Asn) c.218G>A (p.Ser73Asn) c.770G>A (p.Ser257Asn) | |
4 | g.47406715G>C | CA356811277 | GABRB1 | c.869G>C (p.Ser290Thr) c.848G>C (p.Ser283Thr) c.218G>C (p.Ser73Thr) c.770G>C (p.Ser257Thr) | |
4 | g.47406715G= | CA1455320430 | GABRB1 | c.869G= (p.Ser290=) c.848G= (p.Ser283=) c.218G= (p.Ser73=) c.770G= (p.Ser257=) | |
4 | g.47406715G>T | CA97302421 | GABRB1 | c.869G>T (p.Ser290Ile) c.848G>T (p.Ser283Ile) c.218G>T (p.Ser73Ile) c.770G>T (p.Ser257Ile) | dbSNP |
4 | g.47406716C>A | CA356811278 | GABRB1 | c.870C>A (p.Ser290Arg) c.849C>A (p.Ser283Arg) c.219C>A (p.Ser73Arg) c.771C>A (p.Ser257Arg) | |
4 | g.47406716C>G | CA356811279 | GABRB1 | c.870C>G (p.Ser290Arg) c.849C>G (p.Ser283Arg) c.219C>G (p.Ser73Arg) c.771C>G (p.Ser257Arg) | |
4 | g.47406716C>T | CA439245746 | GABRB1 | c.870C>T (p.Ser290=) c.849C>T (p.Ser283=) c.219C>T (p.Ser73=) c.771C>T (p.Ser257=) | gnomAD v4 |
4 | g.47406717A>C | CA356811280 | GABRB1 | c.871A>C (p.Thr291Pro) c.850A>C (p.Thr284Pro) c.220A>C (p.Thr74Pro) c.772A>C (p.Thr258Pro) | |
4 | g.47406717A>G | CA356811282 | GABRB1 | c.871A>G (p.Thr291Ala) c.850A>G (p.Thr284Ala) c.220A>G (p.Thr74Ala) c.772A>G (p.Thr258Ala) | |
4 | g.47406717A>T | CA356811281 | GABRB1 | c.871A>T (p.Thr291Ser) c.850A>T (p.Thr284Ser) c.220A>T (p.Thr74Ser) c.772A>T (p.Thr258Ser) |