Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127427067_127427069dupCA2660997474PROCc.679-38_679-36dup (n.679-38_679-36dup)
c.121-1290_121-1288dup
c.781-38_781-36dup (n.781-38_781-36dup)
c.862-38_862-36dup (n.862-38_862-36dup)
c.844-38_844-36dup (n.844-38_844-36dup)
c.742-38_742-36dup (n.742-38_742-36dup)
n.1486-678_1486-676dup
c.922-38_922-36dup (n.922-38_922-36dup)
c.1024-38_1024-36dup (n.1024-38_1024-36dup)
c.964-38_964-36dup (n.964-38_964-36dup)
n.4197-678_4197-676dup
c.847-38_847-36dup (n.847-38_847-36dup)
c.865-38_865-36dup (n.865-38_865-36dup)
c.622-38_622-36dup (n.622-38_622-36dup)
c.655-38_655-36dup (n.655-38_655-36dup)
c.673-38_673-36dup (n.673-38_673-36dup)
 gnomAD v4
2g.127427067delCA2577090394PROCc.679-38del (n.679-38del)
c.121-1290del
c.781-38del (n.781-38del)
c.862-38del (n.862-38del)
c.844-38del (n.844-38del)
c.742-38del (n.742-38del)
n.1486-679del
c.922-38del (n.922-38del)
c.1024-38del (n.1024-38del)
c.964-38del (n.964-38del)
n.4197-679del
c.847-38del (n.847-38del)
c.865-38del (n.865-38del)
c.622-38del (n.622-38del)
c.655-38del (n.655-38del)
c.673-38del (n.673-38del)
2g.127427067A=CA1286883824PROCc.679-38A= (n.679-38A=)
c.121-1290A=
c.781-38A= (n.781-38A=)
c.862-38A= (n.862-38A=)
c.844-38A= (n.844-38A=)
c.742-38A= (n.742-38A=)
n.1486-679T=
c.922-38A= (n.922-38A=)
c.1024-38A= (n.1024-38A=)
c.964-38A= (n.964-38A=)
n.4197-679T=
c.847-38A= (n.847-38A=)
c.865-38A= (n.865-38A=)
c.622-38A= (n.622-38A=)
c.655-38A= (n.655-38A=)
c.673-38A= (n.673-38A=)
2g.127427067A>GCA1859420PROCc.679-38A>G (n.679-38A>G)
c.121-1290A>G
c.781-38A>G (n.781-38A>G)
c.862-38A>G (n.862-38A>G)
c.844-38A>G (n.844-38A>G)
c.742-38A>G (n.742-38A>G)
n.1486-679T>C
c.922-38A>G (n.922-38A>G)
c.1024-38A>G (n.1024-38A>G)
c.964-38A>G (n.964-38A>G)
n.4197-679T>C
c.847-38A>G (n.847-38A>G)
c.865-38A>G (n.865-38A>G)
c.622-38A>G (n.622-38A>G)
c.655-38A>G (n.655-38A>G)
c.673-38A>G (n.673-38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427068G>ACA2660997480PROCc.679-37G>A (n.679-37G>A)
c.121-1289G>A
c.781-37G>A (n.781-37G>A)
c.862-37G>A (n.862-37G>A)
c.844-37G>A (n.844-37G>A)
c.742-37G>A (n.742-37G>A)
n.1486-680C>T
c.922-37G>A (n.922-37G>A)
c.1024-37G>A (n.1024-37G>A)
c.964-37G>A (n.964-37G>A)
n.4197-680C>T
c.847-37G>A (n.847-37G>A)
c.865-37G>A (n.865-37G>A)
c.622-37G>A (n.622-37G>A)
c.655-37G>A (n.655-37G>A)
c.673-37G>A (n.673-37G>A)
 gnomAD v4
2g.127427068G>TCA2577090395PROCc.679-37G>T (n.679-37G>T)
c.121-1289G>T
c.781-37G>T (n.781-37G>T)
c.862-37G>T (n.862-37G>T)
c.844-37G>T (n.844-37G>T)
c.742-37G>T (n.742-37G>T)
n.1486-680C>A
c.922-37G>T (n.922-37G>T)
c.1024-37G>T (n.1024-37G>T)
c.964-37G>T (n.964-37G>T)
n.4197-680C>A
c.847-37G>T (n.847-37G>T)
c.865-37G>T (n.865-37G>T)
c.622-37G>T (n.622-37G>T)
c.655-37G>T (n.655-37G>T)
c.673-37G>T (n.673-37G>T)
2g.127427069G>ACA2660997481PROCc.679-36G>A (n.679-36G>A)
c.121-1288G>A
c.781-36G>A (n.781-36G>A)
c.862-36G>A (n.862-36G>A)
c.844-36G>A (n.844-36G>A)
c.742-36G>A (n.742-36G>A)
n.1486-681C>T
c.922-36G>A (n.922-36G>A)
c.1024-36G>A (n.1024-36G>A)
c.964-36G>A (n.964-36G>A)
n.4197-681C>T
c.847-36G>A (n.847-36G>A)
c.865-36G>A (n.865-36G>A)
c.622-36G>A (n.622-36G>A)
c.655-36G>A (n.655-36G>A)
c.673-36G>A (n.673-36G>A)
 gnomAD v4
2g.127427069G>TCA2752102973PROCc.679-36G>T (n.679-36G>T)
c.121-1288G>T
c.781-36G>T (n.781-36G>T)
c.862-36G>T (n.862-36G>T)
c.844-36G>T (n.844-36G>T)
c.742-36G>T (n.742-36G>T)
n.1486-681C>A
c.922-36G>T (n.922-36G>T)
c.1024-36G>T (n.1024-36G>T)
c.964-36G>T (n.964-36G>T)
n.4197-681C>A
c.847-36G>T (n.847-36G>T)
c.865-36G>T (n.865-36G>T)
c.622-36G>T (n.622-36G>T)
c.655-36G>T (n.655-36G>T)
c.673-36G>T (n.673-36G>T)
2g.127427070C>ACA2577090396PROCc.679-35C>A (n.679-35C>A)
c.121-1287C>A
c.781-35C>A (n.781-35C>A)
c.862-35C>A (n.862-35C>A)
c.844-35C>A (n.844-35C>A)
c.742-35C>A (n.742-35C>A)
n.1486-682G>T
c.922-35C>A (n.922-35C>A)
c.1024-35C>A (n.1024-35C>A)
c.964-35C>A (n.964-35C>A)
n.4197-682G>T
c.847-35C>A (n.847-35C>A)
c.865-35C>A (n.865-35C>A)
c.622-35C>A (n.622-35C>A)
c.655-35C>A (n.655-35C>A)
c.673-35C>A (n.673-35C>A)
2g.127427070C>TCA2660997482PROCc.679-35C>T (n.679-35C>T)
c.121-1287C>T
c.781-35C>T (n.781-35C>T)
c.862-35C>T (n.862-35C>T)
c.844-35C>T (n.844-35C>T)
c.742-35C>T (n.742-35C>T)
n.1486-682G>A
c.922-35C>T (n.922-35C>T)
c.1024-35C>T (n.1024-35C>T)
c.964-35C>T (n.964-35C>T)
n.4197-682G>A
c.847-35C>T (n.847-35C>T)
c.865-35C>T (n.865-35C>T)
c.622-35C>T (n.622-35C>T)
c.655-35C>T (n.655-35C>T)
c.673-35C>T (n.673-35C>T)
 gnomAD v4
2g.127427072G>TCA2554803110PROCc.679-33G>T (n.679-33G>T)
c.121-1285G>T
c.781-33G>T (n.781-33G>T)
c.862-33G>T (n.862-33G>T)
c.844-33G>T (n.844-33G>T)
c.742-33G>T (n.742-33G>T)
n.1486-684C>A
c.922-33G>T (n.922-33G>T)
c.1024-33G>T (n.1024-33G>T)
c.964-33G>T (n.964-33G>T)
n.4197-684C>A
c.847-33G>T (n.847-33G>T)
c.865-33G>T (n.865-33G>T)
c.622-33G>T (n.622-33G>T)
c.655-33G>T (n.655-33G>T)
c.673-33G>T (n.673-33G>T)
2g.127427073C>ACA2577090397PROCc.679-32C>A (n.679-32C>A)
c.121-1284C>A
c.781-32C>A (n.781-32C>A)
c.862-32C>A (n.862-32C>A)
c.844-32C>A (n.844-32C>A)
c.742-32C>A (n.742-32C>A)
n.1486-685G>T
c.922-32C>A (n.922-32C>A)
c.1024-32C>A (n.1024-32C>A)
c.964-32C>A (n.964-32C>A)
n.4197-685G>T
c.847-32C>A (n.847-32C>A)
c.865-32C>A (n.865-32C>A)
c.622-32C>A (n.622-32C>A)
c.655-32C>A (n.655-32C>A)
c.673-32C>A (n.673-32C>A)
 gnomAD v4
2g.127427073C>TCA2660997483PROCc.679-32C>T (n.679-32C>T)
c.121-1284C>T
c.781-32C>T (n.781-32C>T)
c.862-32C>T (n.862-32C>T)
c.844-32C>T (n.844-32C>T)
c.742-32C>T (n.742-32C>T)
n.1486-685G>A
c.922-32C>T (n.922-32C>T)
c.1024-32C>T (n.1024-32C>T)
c.964-32C>T (n.964-32C>T)
n.4197-685G>A
c.847-32C>T (n.847-32C>T)
c.865-32C>T (n.865-32C>T)
c.622-32C>T (n.622-32C>T)
c.655-32C>T (n.655-32C>T)
c.673-32C>T (n.673-32C>T)
 gnomAD v4
2g.127427074C>ACA2577090398PROCc.679-31C>A (n.679-31C>A)
c.121-1283C>A
c.781-31C>A (n.781-31C>A)
c.862-31C>A (n.862-31C>A)
c.844-31C>A (n.844-31C>A)
c.742-31C>A (n.742-31C>A)
n.1486-686G>T
c.922-31C>A (n.922-31C>A)
c.1024-31C>A (n.1024-31C>A)
c.964-31C>A (n.964-31C>A)
n.4197-686G>T
c.847-31C>A (n.847-31C>A)
c.865-31C>A (n.865-31C>A)
c.622-31C>A (n.622-31C>A)
c.655-31C>A (n.655-31C>A)
c.673-31C>A (n.673-31C>A)
2g.127427074C>TCA2660997485PROCc.679-31C>T (n.679-31C>T)
c.121-1283C>T
c.781-31C>T (n.781-31C>T)
c.862-31C>T (n.862-31C>T)
c.844-31C>T (n.844-31C>T)
c.742-31C>T (n.742-31C>T)
n.1486-686G>A
c.922-31C>T (n.922-31C>T)
c.1024-31C>T (n.1024-31C>T)
c.964-31C>T (n.964-31C>T)
n.4197-686G>A
c.847-31C>T (n.847-31C>T)
c.865-31C>T (n.865-31C>T)
c.622-31C>T (n.622-31C>T)
c.655-31C>T (n.655-31C>T)
c.673-31C>T (n.673-31C>T)
 gnomAD v4
2g.127427075C>TCA2577090399PROCc.679-30C>T (n.679-30C>T)
c.121-1282C>T
c.781-30C>T (n.781-30C>T)
c.862-30C>T (n.862-30C>T)
c.844-30C>T (n.844-30C>T)
c.742-30C>T (n.742-30C>T)
n.1486-687G>A
c.922-30C>T (n.922-30C>T)
c.1024-30C>T (n.1024-30C>T)
c.964-30C>T (n.964-30C>T)
n.4197-687G>A
c.847-30C>T (n.847-30C>T)
c.865-30C>T (n.865-30C>T)
c.622-30C>T (n.622-30C>T)
c.655-30C>T (n.655-30C>T)
c.673-30C>T (n.673-30C>T)
 gnomAD v4
2g.127427076T>CCA2660997489PROCc.679-29T>C (n.679-29T>C)
c.121-1281T>C
c.781-29T>C (n.781-29T>C)
c.862-29T>C (n.862-29T>C)
c.844-29T>C (n.844-29T>C)
c.742-29T>C (n.742-29T>C)
n.1486-688A>G
c.922-29T>C (n.922-29T>C)
c.1024-29T>C (n.1024-29T>C)
c.964-29T>C (n.964-29T>C)
n.4197-688A>G
c.847-29T>C (n.847-29T>C)
c.865-29T>C (n.865-29T>C)
c.622-29T>C (n.622-29T>C)
c.655-29T>C (n.655-29T>C)
c.673-29T>C (n.673-29T>C)
 gnomAD v4
2g.127427077G>ACA1859421PROCc.679-28G>A (n.679-28G>A)
c.121-1280G>A
c.781-28G>A (n.781-28G>A)
c.862-28G>A (n.862-28G>A)
c.844-28G>A (n.844-28G>A)
c.742-28G>A (n.742-28G>A)
n.1486-689C>T
c.922-28G>A (n.922-28G>A)
c.1024-28G>A (n.1024-28G>A)
c.964-28G>A (n.964-28G>A)
n.4197-689C>T
c.847-28G>A (n.847-28G>A)
c.865-28G>A (n.865-28G>A)
c.622-28G>A (n.622-28G>A)
c.655-28G>A (n.655-28G>A)
c.673-28G>A (n.673-28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427077G>CCA1036159843PROCc.679-28G>C (n.679-28G>C)
c.121-1280G>C
c.781-28G>C (n.781-28G>C)
c.862-28G>C (n.862-28G>C)
c.844-28G>C (n.844-28G>C)
c.742-28G>C (n.742-28G>C)
n.1486-689C>G
c.922-28G>C (n.922-28G>C)
c.1024-28G>C (n.1024-28G>C)
c.964-28G>C (n.964-28G>C)
n.4197-689C>G
c.847-28G>C (n.847-28G>C)
c.865-28G>C (n.865-28G>C)
c.622-28G>C (n.622-28G>C)
c.655-28G>C (n.655-28G>C)
c.673-28G>C (n.673-28G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.127427077G=CA1286883825PROCc.679-28G= (n.679-28G=)
c.121-1280G=
c.781-28G= (n.781-28G=)
c.862-28G= (n.862-28G=)
c.844-28G= (n.844-28G=)
c.742-28G= (n.742-28G=)
n.1486-689C=
c.922-28G= (n.922-28G=)
c.1024-28G= (n.1024-28G=)
c.964-28G= (n.964-28G=)
n.4197-689C=
c.847-28G= (n.847-28G=)
c.865-28G= (n.865-28G=)
c.622-28G= (n.622-28G=)
c.655-28G= (n.655-28G=)
c.673-28G= (n.673-28G=)
2g.127427079G>ACA2660997496PROCc.679-26G>A (n.679-26G>A)
c.121-1278G>A
c.781-26G>A (n.781-26G>A)
c.862-26G>A (n.862-26G>A)
c.844-26G>A (n.844-26G>A)
c.742-26G>A (n.742-26G>A)
n.1486-691C>T
c.922-26G>A (n.922-26G>A)
c.1024-26G>A (n.1024-26G>A)
c.964-26G>A (n.964-26G>A)
n.4197-691C>T
c.847-26G>A (n.847-26G>A)
c.865-26G>A (n.865-26G>A)
c.622-26G>A (n.622-26G>A)
c.655-26G>A (n.655-26G>A)
c.673-26G>A (n.673-26G>A)
 gnomAD v4
2g.127427079G>TCA2660997494PROCc.679-26G>T (n.679-26G>T)
c.121-1278G>T
c.781-26G>T (n.781-26G>T)
c.862-26G>T (n.862-26G>T)
c.844-26G>T (n.844-26G>T)
c.742-26G>T (n.742-26G>T)
n.1486-691C>A
c.922-26G>T (n.922-26G>T)
c.1024-26G>T (n.1024-26G>T)
c.964-26G>T (n.964-26G>T)
n.4197-691C>A
c.847-26G>T (n.847-26G>T)
c.865-26G>T (n.865-26G>T)
c.622-26G>T (n.622-26G>T)
c.655-26G>T (n.655-26G>T)
c.673-26G>T (n.673-26G>T)
 gnomAD v4
2g.127427081T>ACA2660997498PROCc.679-24T>A (n.679-24T>A)
c.121-1276T>A
c.781-24T>A (n.781-24T>A)
c.862-24T>A (n.862-24T>A)
c.844-24T>A (n.844-24T>A)
c.742-24T>A (n.742-24T>A)
n.1486-693A>T
c.922-24T>A (n.922-24T>A)
c.1024-24T>A (n.1024-24T>A)
c.964-24T>A (n.964-24T>A)
n.4197-693A>T
c.847-24T>A (n.847-24T>A)
c.865-24T>A (n.865-24T>A)
c.622-24T>A (n.622-24T>A)
c.655-24T>A (n.655-24T>A)
c.673-24T>A (n.673-24T>A)
 gnomAD v4
2g.127427081T=CA1286883826PROCc.679-24T= (n.679-24T=)
c.121-1276T=
c.781-24T= (n.781-24T=)
c.862-24T= (n.862-24T=)
c.844-24T= (n.844-24T=)
c.742-24T= (n.742-24T=)
n.1486-693A=
c.922-24T= (n.922-24T=)
c.1024-24T= (n.1024-24T=)
c.964-24T= (n.964-24T=)
n.4197-693A=
c.847-24T= (n.847-24T=)
c.865-24T= (n.865-24T=)
c.622-24T= (n.622-24T=)
c.655-24T= (n.655-24T=)
c.673-24T= (n.673-24T=)
2g.127427082G>ACA2660997499PROCc.679-23G>A (n.679-23G>A)
c.121-1275G>A
c.781-23G>A (n.781-23G>A)
c.862-23G>A (n.862-23G>A)
c.844-23G>A (n.844-23G>A)
c.742-23G>A (n.742-23G>A)
n.1486-694C>T
c.922-23G>A (n.922-23G>A)
c.1024-23G>A (n.1024-23G>A)
c.964-23G>A (n.964-23G>A)
n.4197-694C>T
c.847-23G>A (n.847-23G>A)
c.865-23G>A (n.865-23G>A)
c.622-23G>A (n.622-23G>A)
c.655-23G>A (n.655-23G>A)
c.673-23G>A (n.673-23G>A)
 gnomAD v4
2g.127427084_127427106dupCA1859422PROCc.679-21_680dup
c.121-1273_121-1251dup
c.781-21_782dup
c.862-21_863dup
c.844-21_845dup
c.742-21_743dup
n.1486-716_1486-694dup
c.922-21_923dup
c.1024-21_1025dup
c.964-21_965dup
n.4197-716_4197-694dup
c.847-21_848dup
c.865-21_866dup
c.622-21_623dup
c.655-21_656dup
c.673-21_674dup
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427088_127427090delCA2577090241PROCc.679-17_679-15del (n.679-17_679-15del)
c.121-1269_121-1267del
c.781-17_781-15del (n.781-17_781-15del)
c.862-17_862-15del (n.862-17_862-15del)
c.844-17_844-15del (n.844-17_844-15del)
c.742-17_742-15del (n.742-17_742-15del)
n.1486-697_1486-695del
c.922-17_922-15del (n.922-17_922-15del)
c.1024-17_1024-15del (n.1024-17_1024-15del)
c.964-17_964-15del (n.964-17_964-15del)
n.4197-697_4197-695del
c.847-17_847-15del (n.847-17_847-15del)
c.865-17_865-15del (n.865-17_865-15del)
c.622-17_622-15del (n.622-17_622-15del)
c.655-17_655-15del (n.655-17_655-15del)
c.673-17_673-15del (n.673-17_673-15del)
2g.127427084C>ACA2660997500PROCc.679-21C>A (n.679-21C>A)
c.121-1273C>A
c.781-21C>A (n.781-21C>A)
c.862-21C>A (n.862-21C>A)
c.844-21C>A (n.844-21C>A)
c.742-21C>A (n.742-21C>A)
n.1486-696G>T
c.922-21C>A (n.922-21C>A)
c.1024-21C>A (n.1024-21C>A)
c.964-21C>A (n.964-21C>A)
n.4197-696G>T
c.847-21C>A (n.847-21C>A)
c.865-21C>A (n.865-21C>A)
c.622-21C>A (n.622-21C>A)
c.655-21C>A (n.655-21C>A)
c.673-21C>A (n.673-21C>A)
 gnomAD v4
2g.127427084C>GCA2660997502PROCc.679-21C>G (n.679-21C>G)
c.121-1273C>G
c.781-21C>G (n.781-21C>G)
c.862-21C>G (n.862-21C>G)
c.844-21C>G (n.844-21C>G)
c.742-21C>G (n.742-21C>G)
n.1486-696G>C
c.922-21C>G (n.922-21C>G)
c.1024-21C>G (n.1024-21C>G)
c.964-21C>G (n.964-21C>G)
n.4197-696G>C
c.847-21C>G (n.847-21C>G)
c.865-21C>G (n.865-21C>G)
c.622-21C>G (n.622-21C>G)
c.655-21C>G (n.655-21C>G)
c.673-21C>G (n.673-21C>G)
 gnomAD v4
2g.127427085A=CA1286883827PROCc.679-20A= (n.679-20A=)
c.121-1272A=
c.781-20A= (n.781-20A=)
c.862-20A= (n.862-20A=)
c.844-20A= (n.844-20A=)
c.742-20A= (n.742-20A=)
n.1486-697T=
c.922-20A= (n.922-20A=)
c.1024-20A= (n.1024-20A=)
c.964-20A= (n.964-20A=)
n.4197-697T=
c.847-20A= (n.847-20A=)
c.865-20A= (n.865-20A=)
c.622-20A= (n.622-20A=)
c.655-20A= (n.655-20A=)
c.673-20A= (n.673-20A=)
2g.127427085A>GCA55349253PROCc.679-20A>G (n.679-20A>G)
c.121-1272A>G
c.781-20A>G (n.781-20A>G)
c.862-20A>G (n.862-20A>G)
c.844-20A>G (n.844-20A>G)
c.742-20A>G (n.742-20A>G)
n.1486-697T>C
c.922-20A>G (n.922-20A>G)
c.1024-20A>G (n.1024-20A>G)
c.964-20A>G (n.964-20A>G)
n.4197-697T>C
c.847-20A>G (n.847-20A>G)
c.865-20A>G (n.865-20A>G)
c.622-20A>G (n.622-20A>G)
c.655-20A>G (n.655-20A>G)
c.673-20A>G (n.673-20A>G)
 dbSNP gnomAD v4
2g.127427086T>CCA1286883829PROCc.679-19T>C (n.679-19T>C)
c.121-1271T>C
c.781-19T>C (n.781-19T>C)
c.862-19T>C (n.862-19T>C)
c.844-19T>C (n.844-19T>C)
c.742-19T>C (n.742-19T>C)
n.1486-698A>G
c.922-19T>C (n.922-19T>C)
c.1024-19T>C (n.1024-19T>C)
c.964-19T>C (n.964-19T>C)
n.4197-698A>G
c.847-19T>C (n.847-19T>C)
c.865-19T>C (n.865-19T>C)
c.622-19T>C (n.622-19T>C)
c.655-19T>C (n.655-19T>C)
c.673-19T>C (n.673-19T>C)
 ClinVar dbSNP gnomAD v4
2g.127427086T=CA1286883828PROCc.679-19T= (n.679-19T=)
c.121-1271T=
c.781-19T= (n.781-19T=)
c.862-19T= (n.862-19T=)
c.844-19T= (n.844-19T=)
c.742-19T= (n.742-19T=)
n.1486-698A=
c.922-19T= (n.922-19T=)
c.1024-19T= (n.1024-19T=)
c.964-19T= (n.964-19T=)
n.4197-698A=
c.847-19T= (n.847-19T=)
c.865-19T= (n.865-19T=)
c.622-19T= (n.622-19T=)
c.655-19T= (n.655-19T=)
c.673-19T= (n.673-19T=)
2g.127427087C=CA1286883830PROCc.679-18C= (n.679-18C=)
c.121-1270C=
c.781-18C= (n.781-18C=)
c.862-18C= (n.862-18C=)
c.844-18C= (n.844-18C=)
c.742-18C= (n.742-18C=)
n.1486-699G=
c.922-18C= (n.922-18C=)
c.1024-18C= (n.1024-18C=)
c.964-18C= (n.964-18C=)
n.4197-699G=
c.847-18C= (n.847-18C=)
c.865-18C= (n.865-18C=)
c.622-18C= (n.622-18C=)
c.655-18C= (n.655-18C=)
c.673-18C= (n.673-18C=)
2g.127427087C>TCA1859423PROCc.679-18C>T (n.679-18C>T)
c.121-1270C>T
c.781-18C>T (n.781-18C>T)
c.862-18C>T (n.862-18C>T)
c.844-18C>T (n.844-18C>T)
c.742-18C>T (n.742-18C>T)
n.1486-699G>A
c.922-18C>T (n.922-18C>T)
c.1024-18C>T (n.1024-18C>T)
c.964-18C>T (n.964-18C>T)
n.4197-699G>A
c.847-18C>T (n.847-18C>T)
c.865-18C>T (n.865-18C>T)
c.622-18C>T (n.622-18C>T)
c.655-18C>T (n.655-18C>T)
c.673-18C>T (n.673-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427089delCA2660997512PROCc.679-16del (n.679-16del)
c.121-1268del
c.781-16del (n.781-16del)
c.862-16del (n.862-16del)
c.844-16del (n.844-16del)
c.742-16del (n.742-16del)
n.1486-701del
c.922-16del (n.922-16del)
c.1024-16del (n.1024-16del)
c.964-16del (n.964-16del)
n.4197-701del
c.847-16del (n.847-16del)
c.865-16del (n.865-16del)
c.622-16del (n.622-16del)
c.655-16del (n.655-16del)
c.673-16del (n.673-16del)
 gnomAD v4
2g.127427089_127427091delCA2577090243PROCc.679-16_679-14del (n.679-16_679-14del)
c.121-1268_121-1266del
c.781-16_781-14del (n.781-16_781-14del)
c.862-16_862-14del (n.862-16_862-14del)
c.844-16_844-14del (n.844-16_844-14del)
c.742-16_742-14del (n.742-16_742-14del)
n.1486-703_1486-701del
c.922-16_922-14del (n.922-16_922-14del)
c.1024-16_1024-14del (n.1024-16_1024-14del)
c.964-16_964-14del (n.964-16_964-14del)
n.4197-703_4197-701del
c.847-16_847-14del (n.847-16_847-14del)
c.865-16_865-14del (n.865-16_865-14del)
c.622-16_622-14del (n.622-16_622-14del)
c.655-16_655-14del (n.655-16_655-14del)
c.673-16_673-14del (n.673-16_673-14del)
2g.127427090C>TCA2660997513PROCc.679-15C>T (n.679-15C>T)
c.121-1267C>T
c.781-15C>T (n.781-15C>T)
c.862-15C>T (n.862-15C>T)
c.844-15C>T (n.844-15C>T)
c.742-15C>T (n.742-15C>T)
n.1486-702G>A
c.922-15C>T (n.922-15C>T)
c.1024-15C>T (n.1024-15C>T)
c.964-15C>T (n.964-15C>T)
n.4197-702G>A
c.847-15C>T (n.847-15C>T)
c.865-15C>T (n.865-15C>T)
c.622-15C>T (n.622-15C>T)
c.655-15C>T (n.655-15C>T)
c.673-15C>T (n.673-15C>T)
 gnomAD v4
2g.127427092C>ACA2577090245PROCc.679-13C>A (n.679-13C>A)
c.121-1265C>A
c.781-13C>A (n.781-13C>A)
c.862-13C>A (n.862-13C>A)
c.844-13C>A (n.844-13C>A)
c.742-13C>A (n.742-13C>A)
n.1486-704G>T
c.922-13C>A (n.922-13C>A)
c.1024-13C>A (n.1024-13C>A)
c.964-13C>A (n.964-13C>A)
n.4197-704G>T
c.847-13C>A (n.847-13C>A)
c.865-13C>A (n.865-13C>A)
c.622-13C>A (n.622-13C>A)
c.655-13C>A (n.655-13C>A)
c.673-13C>A (n.673-13C>A)
 ClinVar gnomAD v4
2g.127427092C>TCA2577090246PROCc.679-13C>T (n.679-13C>T)
c.121-1265C>T
c.781-13C>T (n.781-13C>T)
c.862-13C>T (n.862-13C>T)
c.844-13C>T (n.844-13C>T)
c.742-13C>T (n.742-13C>T)
n.1486-704G>A
c.922-13C>T (n.922-13C>T)
c.1024-13C>T (n.1024-13C>T)
c.964-13C>T (n.964-13C>T)
n.4197-704G>A
c.847-13C>T (n.847-13C>T)
c.865-13C>T (n.865-13C>T)
c.622-13C>T (n.622-13C>T)
c.655-13C>T (n.655-13C>T)
c.673-13C>T (n.673-13C>T)
2g.127427094C>ACA2577090247PROCc.679-11C>A (n.679-11C>A)
c.121-1263C>A
c.781-11C>A (n.781-11C>A)
c.862-11C>A (n.862-11C>A)
c.844-11C>A (n.844-11C>A)
c.742-11C>A (n.742-11C>A)
n.1486-706G>T
c.922-11C>A (n.922-11C>A)
c.1024-11C>A (n.1024-11C>A)
c.964-11C>A (n.964-11C>A)
n.4197-706G>T
c.847-11C>A (n.847-11C>A)
c.865-11C>A (n.865-11C>A)
c.622-11C>A (n.622-11C>A)
c.655-11C>A (n.655-11C>A)
c.673-11C>A (n.673-11C>A)
2g.127427094C=CA1286883831PROCc.679-11C= (n.679-11C=)
c.121-1263C=
c.781-11C= (n.781-11C=)
c.862-11C= (n.862-11C=)
c.844-11C= (n.844-11C=)
c.742-11C= (n.742-11C=)
n.1486-706G=
c.922-11C= (n.922-11C=)
c.1024-11C= (n.1024-11C=)
c.964-11C= (n.964-11C=)
n.4197-706G=
c.847-11C= (n.847-11C=)
c.865-11C= (n.865-11C=)
c.622-11C= (n.622-11C=)
c.655-11C= (n.655-11C=)
c.673-11C= (n.673-11C=)
2g.127427094C>TCA535640177PROCc.679-11C>T (n.679-11C>T)
c.121-1263C>T
c.781-11C>T (n.781-11C>T)
c.862-11C>T (n.862-11C>T)
c.844-11C>T (n.844-11C>T)
c.742-11C>T (n.742-11C>T)
n.1486-706G>A
c.922-11C>T (n.922-11C>T)
c.1024-11C>T (n.1024-11C>T)
c.964-11C>T (n.964-11C>T)
n.4197-706G>A
c.847-11C>T (n.847-11C>T)
c.865-11C>T (n.865-11C>T)
c.622-11C>T (n.622-11C>T)
c.655-11C>T (n.655-11C>T)
c.673-11C>T (n.673-11C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.127427095C>ACA2660997517PROCc.679-10C>A (n.679-10C>A)
c.121-1262C>A
c.781-10C>A (n.781-10C>A)
c.862-10C>A (n.862-10C>A)
c.844-10C>A (n.844-10C>A)
c.742-10C>A (n.742-10C>A)
n.1486-707G>T
c.922-10C>A (n.922-10C>A)
c.1024-10C>A (n.1024-10C>A)
c.964-10C>A (n.964-10C>A)
n.4197-707G>T
c.847-10C>A (n.847-10C>A)
c.865-10C>A (n.865-10C>A)
c.622-10C>A (n.622-10C>A)
c.655-10C>A (n.655-10C>A)
c.673-10C>A (n.673-10C>A)
 gnomAD v4
2g.127427095C=CA1286883832PROCc.679-10C= (n.679-10C=)
c.121-1262C=
c.781-10C= (n.781-10C=)
c.862-10C= (n.862-10C=)
c.844-10C= (n.844-10C=)
c.742-10C= (n.742-10C=)
n.1486-707G=
c.922-10C= (n.922-10C=)
c.1024-10C= (n.1024-10C=)
c.964-10C= (n.964-10C=)
n.4197-707G=
c.847-10C= (n.847-10C=)
c.865-10C= (n.865-10C=)
c.622-10C= (n.622-10C=)
c.655-10C= (n.655-10C=)
c.673-10C= (n.673-10C=)
2g.127427095C>TCA756629732PROCc.679-10C>T (n.679-10C>T)
c.121-1262C>T
c.781-10C>T (n.781-10C>T)
c.862-10C>T (n.862-10C>T)
c.844-10C>T (n.844-10C>T)
c.742-10C>T (n.742-10C>T)
n.1486-707G>A
c.922-10C>T (n.922-10C>T)
c.1024-10C>T (n.1024-10C>T)
c.964-10C>T (n.964-10C>T)
n.4197-707G>A
c.847-10C>T (n.847-10C>T)
c.865-10C>T (n.865-10C>T)
c.622-10C>T (n.622-10C>T)
c.655-10C>T (n.655-10C>T)
c.673-10C>T (n.673-10C>T)
 dbSNP
2g.127427096C=CA1286883833PROCc.679-9C= (n.679-9C=)
c.121-1261C=
c.781-9C= (n.781-9C=)
c.862-9C= (n.862-9C=)
c.844-9C= (n.844-9C=)
c.742-9C= (n.742-9C=)
n.1486-708G=
c.922-9C= (n.922-9C=)
c.1024-9C= (n.1024-9C=)
c.964-9C= (n.964-9C=)
n.4197-708G=
c.847-9C= (n.847-9C=)
c.865-9C= (n.865-9C=)
c.622-9C= (n.622-9C=)
c.655-9C= (n.655-9C=)
c.673-9C= (n.673-9C=)
2g.127427096C>TCA535640179PROCc.679-9C>T (n.679-9C>T)
c.121-1261C>T
c.781-9C>T (n.781-9C>T)
c.862-9C>T (n.862-9C>T)
c.844-9C>T (n.844-9C>T)
c.742-9C>T (n.742-9C>T)
n.1486-708G>A
c.922-9C>T (n.922-9C>T)
c.1024-9C>T (n.1024-9C>T)
c.964-9C>T (n.964-9C>T)
n.4197-708G>A
c.847-9C>T (n.847-9C>T)
c.865-9C>T (n.865-9C>T)
c.622-9C>T (n.622-9C>T)
c.655-9C>T (n.655-9C>T)
c.673-9C>T (n.673-9C>T)
 dbSNP gnomAD v2
2g.127427098A=CA1286883834PROCc.679-7A= (n.679-7A=)
c.121-1259A=
c.781-7A= (n.781-7A=)
c.862-7A= (n.862-7A=)
c.844-7A= (n.844-7A=)
c.742-7A= (n.742-7A=)
n.1486-710T=
c.922-7A= (n.922-7A=)
c.1024-7A= (n.1024-7A=)
c.964-7A= (n.964-7A=)
n.4197-710T=
c.847-7A= (n.847-7A=)
c.865-7A= (n.865-7A=)
c.622-7A= (n.622-7A=)
c.655-7A= (n.655-7A=)
c.673-7A= (n.673-7A=)
2g.127427098A>CCA756629739PROCc.679-7A>C (n.679-7A>C)
c.121-1259A>C
c.781-7A>C (n.781-7A>C)
c.862-7A>C (n.862-7A>C)
c.844-7A>C (n.844-7A>C)
c.742-7A>C (n.742-7A>C)
n.1486-710T>G
c.922-7A>C (n.922-7A>C)
c.1024-7A>C (n.1024-7A>C)
c.964-7A>C (n.964-7A>C)
n.4197-710T>G
c.847-7A>C (n.847-7A>C)
c.865-7A>C (n.865-7A>C)
c.622-7A>C (n.622-7A>C)
c.655-7A>C (n.655-7A>C)
c.673-7A>C (n.673-7A>C)
 dbSNP gnomAD v4
2g.127427100T>CCA535640180PROCc.679-5T>C (n.679-5T>C)
c.121-1257T>C
c.781-5T>C (n.781-5T>C)
c.862-5T>C (n.862-5T>C)
c.844-5T>C (n.844-5T>C)
c.742-5T>C (n.742-5T>C)
n.1486-712A>G
c.922-5T>C (n.922-5T>C)
c.1024-5T>C (n.1024-5T>C)
c.964-5T>C (n.964-5T>C)
n.4197-712A>G
c.847-5T>C (n.847-5T>C)
c.865-5T>C (n.865-5T>C)
c.622-5T>C (n.622-5T>C)
c.655-5T>C (n.655-5T>C)
c.673-5T>C (n.673-5T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427100T=CA1286883835PROCc.679-5T= (n.679-5T=)
c.121-1257T=
c.781-5T= (n.781-5T=)
c.862-5T= (n.862-5T=)
c.844-5T= (n.844-5T=)
c.742-5T= (n.742-5T=)
n.1486-712A=
c.922-5T= (n.922-5T=)
c.1024-5T= (n.1024-5T=)
c.964-5T= (n.964-5T=)
n.4197-712A=
c.847-5T= (n.847-5T=)
c.865-5T= (n.865-5T=)
c.622-5T= (n.622-5T=)
c.655-5T= (n.655-5T=)
c.673-5T= (n.673-5T=)
2g.127427101C>ACA2660997521PROCc.679-4C>A (n.679-4C>A)
c.121-1256C>A
c.781-4C>A (n.781-4C>A)
c.862-4C>A (n.862-4C>A)
c.844-4C>A (n.844-4C>A)
c.742-4C>A (n.742-4C>A)
n.1486-713G>T
c.922-4C>A (n.922-4C>A)
c.1024-4C>A (n.1024-4C>A)
c.964-4C>A (n.964-4C>A)
n.4197-713G>T
c.847-4C>A (n.847-4C>A)
c.865-4C>A (n.865-4C>A)
c.622-4C>A (n.622-4C>A)
c.655-4C>A (n.655-4C>A)
c.673-4C>A (n.673-4C>A)
 gnomAD v4
2g.127427101C>TCA2577090250PROCc.679-4C>T (n.679-4C>T)
c.121-1256C>T
c.781-4C>T (n.781-4C>T)
c.862-4C>T (n.862-4C>T)
c.844-4C>T (n.844-4C>T)
c.742-4C>T (n.742-4C>T)
n.1486-713G>A
c.922-4C>T (n.922-4C>T)
c.1024-4C>T (n.1024-4C>T)
c.964-4C>T (n.964-4C>T)
n.4197-713G>A
c.847-4C>T (n.847-4C>T)
c.865-4C>T (n.865-4C>T)
c.622-4C>T (n.622-4C>T)
c.655-4C>T (n.655-4C>T)
c.673-4C>T (n.673-4C>T)
2g.127427103A>CCA348401956PROCc.679-2A>C (n.679-2A>C)
c.121-1254A>C
c.781-2A>C (n.781-2A>C)
c.862-2A>C (n.862-2A>C)
c.844-2A>C (n.844-2A>C)
c.742-2A>C (n.742-2A>C)
n.1486-715T>G
c.922-2A>C (n.922-2A>C)
c.1024-2A>C (n.1024-2A>C)
c.964-2A>C (n.964-2A>C)
n.4197-715T>G
c.847-2A>C (n.847-2A>C)
c.865-2A>C (n.865-2A>C)
c.622-2A>C (n.622-2A>C)
c.655-2A>C (n.655-2A>C)
c.673-2A>C (n.673-2A>C)
2g.127427103A>GCA348401955PROCc.679-2A>G (n.679-2A>G)
c.121-1254A>G
c.781-2A>G (n.781-2A>G)
c.862-2A>G (n.862-2A>G)
c.844-2A>G (n.844-2A>G)
c.742-2A>G (n.742-2A>G)
n.1486-715T>C
c.922-2A>G (n.922-2A>G)
c.1024-2A>G (n.1024-2A>G)
c.964-2A>G (n.964-2A>G)
n.4197-715T>C
c.847-2A>G (n.847-2A>G)
c.865-2A>G (n.865-2A>G)
c.622-2A>G (n.622-2A>G)
c.655-2A>G (n.655-2A>G)
c.673-2A>G (n.673-2A>G)
 ClinVar
2g.127427103A>TCA348401953PROCc.679-2A>T (n.679-2A>T)
c.121-1254A>T
c.781-2A>T (n.781-2A>T)
c.862-2A>T (n.862-2A>T)
c.844-2A>T (n.844-2A>T)
c.742-2A>T (n.742-2A>T)
n.1486-715T>A
c.922-2A>T (n.922-2A>T)
c.1024-2A>T (n.1024-2A>T)
c.964-2A>T (n.964-2A>T)
n.4197-715T>A
c.847-2A>T (n.847-2A>T)
c.865-2A>T (n.865-2A>T)
c.622-2A>T (n.622-2A>T)
c.655-2A>T (n.655-2A>T)
c.673-2A>T (n.673-2A>T)
2g.127427104G>ACA348401959PROCc.679-1G>A (n.679-1G>A)
c.121-1253G>A
c.781-1G>A (n.781-1G>A)
c.862-1G>A (n.862-1G>A)
c.844-1G>A (n.844-1G>A)
c.742-1G>A (n.742-1G>A)
n.1486-716C>T
c.922-1G>A (n.922-1G>A)
c.1024-1G>A (n.1024-1G>A)
c.964-1G>A (n.964-1G>A)
n.4197-716C>T
c.847-1G>A (n.847-1G>A)
c.865-1G>A (n.865-1G>A)
c.622-1G>A (n.622-1G>A)
c.655-1G>A (n.655-1G>A)
c.673-1G>A (n.673-1G>A)
2g.127427104G>CCA348401961PROCc.679-1G>C (n.679-1G>C)
c.121-1253G>C
c.781-1G>C (n.781-1G>C)
c.862-1G>C (n.862-1G>C)
c.844-1G>C (n.844-1G>C)
c.742-1G>C (n.742-1G>C)
n.1486-716C>G
c.922-1G>C (n.922-1G>C)
c.1024-1G>C (n.1024-1G>C)
c.964-1G>C (n.964-1G>C)
n.4197-716C>G
c.847-1G>C (n.847-1G>C)
c.865-1G>C (n.865-1G>C)
c.622-1G>C (n.622-1G>C)
c.655-1G>C (n.655-1G>C)
c.673-1G>C (n.673-1G>C)
2g.127427104G>TCA348401964PROCc.679-1G>T (n.679-1G>T)
c.121-1253G>T
c.781-1G>T (n.781-1G>T)
c.862-1G>T (n.862-1G>T)
c.844-1G>T (n.844-1G>T)
c.742-1G>T (n.742-1G>T)
n.1486-716C>A
c.922-1G>T (n.922-1G>T)
c.1024-1G>T (n.1024-1G>T)
c.964-1G>T (n.964-1G>T)
n.4197-716C>A
c.847-1G>T (n.847-1G>T)
c.865-1G>T (n.865-1G>T)
c.622-1G>T (n.622-1G>T)
c.655-1G>T (n.655-1G>T)
c.673-1G>T (n.673-1G>T)
 gnomAD v4
2g.127427105G>ACA348401968PROCc.679G>A (p.Val227Met)
c.121-1252G>A
c.781G>A (p.Val261Met)
c.862G>A (p.Val288Met)
c.844G>A (p.Val282Met)
c.742G>A (p.Val248Met)
n.1486-717C>T
c.922G>A (p.Val308Met)
c.1024G>A (p.Val342Met)
c.964G>A (p.Val322Met)
n.4197-717C>T
c.847G>A (p.Val283Met)
c.865G>A (p.Val289Met)
c.622G>A (p.Val208Met)
c.655G>A (p.Val219Met)
c.673G>A (p.Val225Met)
 gnomAD v4
2g.127427105G>CCA348401971PROCc.679G>C (p.Val227Leu)
c.121-1252G>C
c.781G>C (p.Val261Leu)
c.862G>C (p.Val288Leu)
c.844G>C (p.Val282Leu)
c.742G>C (p.Val248Leu)
n.1486-717C>G
c.922G>C (p.Val308Leu)
c.1024G>C (p.Val342Leu)
c.964G>C (p.Val322Leu)
n.4197-717C>G
c.847G>C (p.Val283Leu)
c.865G>C (p.Val289Leu)
c.622G>C (p.Val208Leu)
c.655G>C (p.Val219Leu)
c.673G>C (p.Val225Leu)
2g.127427105G>TCA348401973PROCc.679G>T (p.Val227Leu)
c.121-1252G>T
c.781G>T (p.Val261Leu)
c.862G>T (p.Val288Leu)
c.844G>T (p.Val282Leu)
c.742G>T (p.Val248Leu)
n.1486-717C>A
c.922G>T (p.Val308Leu)
c.1024G>T (p.Val342Leu)
c.964G>T (p.Val322Leu)
n.4197-717C>A
c.847G>T (p.Val283Leu)
c.865G>T (p.Val289Leu)
c.622G>T (p.Val208Leu)
c.655G>T (p.Val219Leu)
c.673G>T (p.Val225Leu)
2g.127427106T>ACA348401975PROCc.680T>A (p.Val227Glu)
c.121-1251T>A
c.782T>A (p.Val261Glu)
c.863T>A (p.Val288Glu)
c.845T>A (p.Val282Glu)
c.743T>A (p.Val248Glu)
n.1486-718A>T
c.923T>A (p.Val308Glu)
c.1025T>A (p.Val342Glu)
c.965T>A (p.Val322Glu)
n.4197-718A>T
c.848T>A (p.Val283Glu)
c.866T>A (p.Val289Glu)
c.623T>A (p.Val208Glu)
c.656T>A (p.Val219Glu)
c.674T>A (p.Val225Glu)
2g.127427106T>CCA348401977PROCc.680T>C (p.Val227Ala)
c.121-1251T>C
c.782T>C (p.Val261Ala)
c.863T>C (p.Val288Ala)
c.845T>C (p.Val282Ala)
c.743T>C (p.Val248Ala)
n.1486-718A>G
c.923T>C (p.Val308Ala)
c.1025T>C (p.Val342Ala)
c.965T>C (p.Val322Ala)
n.4197-718A>G
c.848T>C (p.Val283Ala)
c.866T>C (p.Val289Ala)
c.623T>C (p.Val208Ala)
c.656T>C (p.Val219Ala)
c.674T>C (p.Val225Ala)
2g.127427106T>GCA348401983PROCc.680T>G (p.Val227Gly)
c.121-1251T>G
c.782T>G (p.Val261Gly)
c.863T>G (p.Val288Gly)
c.845T>G (p.Val282Gly)
c.743T>G (p.Val248Gly)
n.1486-718A>C
c.923T>G (p.Val308Gly)
c.1025T>G (p.Val342Gly)
c.965T>G (p.Val322Gly)
n.4197-718A>C
c.848T>G (p.Val283Gly)
c.866T>G (p.Val289Gly)
c.623T>G (p.Val208Gly)
c.656T>G (p.Val219Gly)
c.674T>G (p.Val225Gly)
2g.127427107G>ACA428618466PROCc.681G>A (p.Val227=)
c.121-1250G>A
c.783G>A (p.Val261=)
c.864G>A (p.Val288=)
c.846G>A (p.Val282=)
c.744G>A (p.Val248=)
n.1486-719C>T
c.924G>A (p.Val308=)
c.1026G>A (p.Val342=)
c.966G>A (p.Val322=)
n.4197-719C>T
c.849G>A (p.Val283=)
c.867G>A (p.Val289=)
c.624G>A (p.Val208=)
c.657G>A (p.Val219=)
c.675G>A (p.Val225=)
2g.127427107G>CCA428618468PROCc.681G>C (p.Val227=)
c.121-1250G>C
c.783G>C (p.Val261=)
c.864G>C (p.Val288=)
c.846G>C (p.Val282=)
c.744G>C (p.Val248=)
n.1486-719C>G
c.924G>C (p.Val308=)
c.1026G>C (p.Val342=)
c.966G>C (p.Val322=)
n.4197-719C>G
c.849G>C (p.Val283=)
c.867G>C (p.Val289=)
c.624G>C (p.Val208=)
c.657G>C (p.Val219=)
c.675G>C (p.Val225=)
2g.127427107G>TCA428618469PROCc.681G>T (p.Val227=)
c.121-1250G>T
c.783G>T (p.Val261=)
c.864G>T (p.Val288=)
c.846G>T (p.Val282=)
c.744G>T (p.Val248=)
n.1486-719C>A
c.924G>T (p.Val308=)
c.1026G>T (p.Val342=)
c.966G>T (p.Val322=)
n.4197-719C>A
c.849G>T (p.Val283=)
c.867G>T (p.Val289=)
c.624G>T (p.Val208=)
c.657G>T (p.Val219=)
c.675G>T (p.Val225=)
2g.127427108G>ACA348401986PROCc.682G>A (p.Val228Ile)
c.121-1249G>A
c.784G>A (p.Val262Ile)
c.865G>A (p.Val289Ile)
c.847G>A (p.Val283Ile)
c.745G>A (p.Val249Ile)
n.1486-720C>T
c.925G>A (p.Val309Ile)
c.1027G>A (p.Val343Ile)
c.967G>A (p.Val323Ile)
n.4197-720C>T
c.850G>A (p.Val284Ile)
c.868G>A (p.Val290Ile)
c.625G>A (p.Val209Ile)
c.658G>A (p.Val220Ile)
c.676G>A (p.Val226Ile)
 gnomAD v4
2g.127427108G>CCA348401989PROCc.682G>C (p.Val228Leu)
c.121-1249G>C
c.784G>C (p.Val262Leu)
c.865G>C (p.Val289Leu)
c.847G>C (p.Val283Leu)
c.745G>C (p.Val249Leu)
n.1486-720C>G
c.925G>C (p.Val309Leu)
c.1027G>C (p.Val343Leu)
c.967G>C (p.Val323Leu)
n.4197-720C>G
c.850G>C (p.Val284Leu)
c.868G>C (p.Val290Leu)
c.625G>C (p.Val209Leu)
c.658G>C (p.Val220Leu)
c.676G>C (p.Val226Leu)
2g.127427108G>TCA348401992PROCc.682G>T (p.Val228Phe)
c.121-1249G>T
c.784G>T (p.Val262Phe)
c.865G>T (p.Val289Phe)
c.847G>T (p.Val283Phe)
c.745G>T (p.Val249Phe)
n.1486-720C>A
c.925G>T (p.Val309Phe)
c.1027G>T (p.Val343Phe)
c.967G>T (p.Val323Phe)
n.4197-720C>A
c.850G>T (p.Val284Phe)
c.868G>T (p.Val290Phe)
c.625G>T (p.Val209Phe)
c.658G>T (p.Val220Phe)
c.676G>T (p.Val226Phe)
2g.127427109T>ACA348402000PROCc.683T>A (p.Val228Asp)
c.121-1248T>A
c.785T>A (p.Val262Asp)
c.866T>A (p.Val289Asp)
c.848T>A (p.Val283Asp)
c.746T>A (p.Val249Asp)
n.1486-721A>T
c.926T>A (p.Val309Asp)
c.1028T>A (p.Val343Asp)
c.968T>A (p.Val323Asp)
n.4197-721A>T
c.851T>A (p.Val284Asp)
c.869T>A (p.Val290Asp)
c.626T>A (p.Val209Asp)
c.659T>A (p.Val220Asp)
c.677T>A (p.Val226Asp)
 gnomAD v4
2g.127427109T>CCA348401998PROCc.683T>C (p.Val228Ala)
c.121-1248T>C
c.785T>C (p.Val262Ala)
c.866T>C (p.Val289Ala)
c.848T>C (p.Val283Ala)
c.746T>C (p.Val249Ala)
n.1486-721A>G
c.926T>C (p.Val309Ala)
c.1028T>C (p.Val343Ala)
c.968T>C (p.Val323Ala)
n.4197-721A>G
c.851T>C (p.Val284Ala)
c.869T>C (p.Val290Ala)
c.626T>C (p.Val209Ala)
c.659T>C (p.Val220Ala)
c.677T>C (p.Val226Ala)
2g.127427109T>GCA348401995PROCc.683T>G (p.Val228Gly)
c.121-1248T>G
c.785T>G (p.Val262Gly)
c.866T>G (p.Val289Gly)
c.848T>G (p.Val283Gly)
c.746T>G (p.Val249Gly)
n.1486-721A>C
c.926T>G (p.Val309Gly)
c.1028T>G (p.Val343Gly)
c.968T>G (p.Val323Gly)
n.4197-721A>C
c.851T>G (p.Val284Gly)
c.869T>G (p.Val290Gly)
c.626T>G (p.Val209Gly)
c.659T>G (p.Val220Gly)
c.677T>G (p.Val226Gly)
2g.127427110C>ACA428618471PROCc.684C>A (p.Val228=)
c.121-1247C>A
c.786C>A (p.Val262=)
c.867C>A (p.Val289=)
c.849C>A (p.Val283=)
c.747C>A (p.Val249=)
n.1486-722G>T
c.927C>A (p.Val309=)
c.1029C>A (p.Val343=)
c.969C>A (p.Val323=)
n.4197-722G>T
c.852C>A (p.Val284=)
c.870C>A (p.Val290=)
c.627C>A (p.Val209=)
c.660C>A (p.Val220=)
c.678C>A (p.Val226=)
2g.127427110C>GCA428618474PROCc.684C>G (p.Val228=)
c.121-1247C>G
c.786C>G (p.Val262=)
c.867C>G (p.Val289=)
c.849C>G (p.Val283=)
c.747C>G (p.Val249=)
n.1486-722G>C
c.927C>G (p.Val309=)
c.1029C>G (p.Val343=)
c.969C>G (p.Val323=)
n.4197-722G>C
c.852C>G (p.Val284=)
c.870C>G (p.Val290=)
c.627C>G (p.Val209=)
c.660C>G (p.Val220=)
c.678C>G (p.Val226=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427110C>TCA428618477PROCc.684C>T (p.Val228=)
c.121-1247C>T
c.786C>T (p.Val262=)
c.867C>T (p.Val289=)
c.849C>T (p.Val283=)
c.747C>T (p.Val249=)
n.1486-722G>A
c.927C>T (p.Val309=)
c.1029C>T (p.Val343=)
c.969C>T (p.Val323=)
n.4197-722G>A
c.852C>T (p.Val284=)
c.870C>T (p.Val290=)
c.627C>T (p.Val209=)
c.660C>T (p.Val220=)
c.678C>T (p.Val226=)
 gnomAD v4
2g.127427111C>ACA348402002PROCc.685C>A (p.Leu229Met)
c.121-1246C>A
c.787C>A (p.Leu263Met)
c.868C>A (p.Leu290Met)
c.850C>A (p.Leu284Met)
c.748C>A (p.Leu250Met)
n.1486-723G>T
c.928C>A (p.Leu310Met)
c.1030C>A (p.Leu344Met)
c.970C>A (p.Leu324Met)
n.4197-723G>T
c.853C>A (p.Leu285Met)
c.871C>A (p.Leu291Met)
c.628C>A (p.Leu210Met)
c.661C>A (p.Leu221Met)
c.679C>A (p.Leu227Met)
2g.127427111C>GCA348402003PROCc.685C>G (p.Leu229Val)
c.121-1246C>G
c.787C>G (p.Leu263Val)
c.868C>G (p.Leu290Val)
c.850C>G (p.Leu284Val)
c.748C>G (p.Leu250Val)
n.1486-723G>C
c.928C>G (p.Leu310Val)
c.1030C>G (p.Leu344Val)
c.970C>G (p.Leu324Val)
n.4197-723G>C
c.853C>G (p.Leu285Val)
c.871C>G (p.Leu291Val)
c.628C>G (p.Leu210Val)
c.661C>G (p.Leu221Val)
c.679C>G (p.Leu227Val)
2g.127427111C>TCA428618478PROCc.685C>T (p.Leu229=)
c.121-1246C>T
c.787C>T (p.Leu263=)
c.868C>T (p.Leu290=)
c.850C>T (p.Leu284=)
c.748C>T (p.Leu250=)
n.1486-723G>A
c.928C>T (p.Leu310=)
c.1030C>T (p.Leu344=)
c.970C>T (p.Leu324=)
n.4197-723G>A
c.853C>T (p.Leu285=)
c.871C>T (p.Leu291=)
c.628C>T (p.Leu210=)
c.661C>T (p.Leu221=)
c.679C>T (p.Leu227=)
2g.127427114_127427116delCA2586969900PROCc.688_690del (p.Leu230del)
c.121-1243_121-1241del
c.790_792del (p.Leu264del)
c.871_873del (p.Leu291del)
c.853_855del (p.Leu285del)
c.751_753del (p.Leu251del)
n.1486-725_1486-723del
c.931_933del (p.Leu311del)
c.1033_1035del (p.Leu345del)
c.973_975del (p.Leu325del)
n.4197-725_4197-723del
c.856_858del (p.Leu286del)
c.874_876del (p.Leu292del)
c.631_633del (p.Leu211del)
c.664_666del (p.Leu222del)
c.682_684del (p.Leu228del)
2g.127427112T>ACA348402005PROCc.686T>A (p.Leu229Gln)
c.121-1245T>A
c.788T>A (p.Leu263Gln)
c.869T>A (p.Leu290Gln)
c.851T>A (p.Leu284Gln)
c.749T>A (p.Leu250Gln)
n.1486-724A>T
c.929T>A (p.Leu310Gln)
c.1031T>A (p.Leu344Gln)
c.971T>A (p.Leu324Gln)
n.4197-724A>T
c.854T>A (p.Leu285Gln)
c.872T>A (p.Leu291Gln)
c.629T>A (p.Leu210Gln)
c.662T>A (p.Leu221Gln)
c.680T>A (p.Leu227Gln)
2g.127427112T>CCA348402007PROCc.686T>C (p.Leu229Pro)
c.121-1245T>C
c.788T>C (p.Leu263Pro)
c.869T>C (p.Leu290Pro)
c.851T>C (p.Leu284Pro)
c.749T>C (p.Leu250Pro)
n.1486-724A>G
c.929T>C (p.Leu310Pro)
c.1031T>C (p.Leu344Pro)
c.971T>C (p.Leu324Pro)
n.4197-724A>G
c.854T>C (p.Leu285Pro)
c.872T>C (p.Leu291Pro)
c.629T>C (p.Leu210Pro)
c.662T>C (p.Leu221Pro)
c.680T>C (p.Leu227Pro)
2g.127427112T>GCA348402009PROCc.686T>G (p.Leu229Arg)
c.121-1245T>G
c.788T>G (p.Leu263Arg)
c.869T>G (p.Leu290Arg)
c.851T>G (p.Leu284Arg)
c.749T>G (p.Leu250Arg)
n.1486-724A>C
c.929T>G (p.Leu310Arg)
c.1031T>G (p.Leu344Arg)
c.971T>G (p.Leu324Arg)
n.4197-724A>C
c.854T>G (p.Leu285Arg)
c.872T>G (p.Leu291Arg)
c.629T>G (p.Leu210Arg)
c.662T>G (p.Leu221Arg)
c.680T>G (p.Leu227Arg)
2g.127427113delCA2700552605PROCc.687del (p.Leu230TrpfsTer20)
c.121-1244del
c.789del (p.Leu264TrpfsTer20)
c.870del (p.Leu291TrpfsTer20)
c.852del (p.Leu285TrpfsTer20)
c.750del (p.Leu251TrpfsTer20)
n.1486-725del
c.930del (p.Leu311TrpfsTer20)
c.1032del (p.Leu345TrpfsTer20)
c.972del (p.Leu325TrpfsTer20)
n.4197-725del
c.855del (p.Leu286TrpfsTer20)
c.873del (p.Leu292TrpfsTer20)
c.630del (p.Leu211TrpfsTer20)
c.663del (p.Leu222TrpfsTer20)
c.681del (p.Leu228TrpfsTer20)
 dbSNP
2g.127427113G>ACA428618479PROCc.687G>A (p.Leu229=)
c.121-1244G>A
c.789G>A (p.Leu263=)
c.870G>A (p.Leu290=)
c.852G>A (p.Leu284=)
c.750G>A (p.Leu250=)
n.1486-725C>T
c.930G>A (p.Leu310=)
c.1032G>A (p.Leu344=)
c.972G>A (p.Leu324=)
n.4197-725C>T
c.855G>A (p.Leu285=)
c.873G>A (p.Leu291=)
c.630G>A (p.Leu210=)
c.663G>A (p.Leu221=)
c.681G>A (p.Leu227=)
 dbSNP
2g.127427113G>CCA428618480PROCc.687G>C (p.Leu229=)
c.121-1244G>C
c.789G>C (p.Leu263=)
c.870G>C (p.Leu290=)
c.852G>C (p.Leu284=)
c.750G>C (p.Leu250=)
n.1486-725C>G
c.930G>C (p.Leu310=)
c.1032G>C (p.Leu344=)
c.972G>C (p.Leu324=)
n.4197-725C>G
c.855G>C (p.Leu285=)
c.873G>C (p.Leu291=)
c.630G>C (p.Leu210=)
c.663G>C (p.Leu221=)
c.681G>C (p.Leu227=)
2g.127427113G=CA1286883836PROCc.687G= (p.Leu229=)
c.121-1244G=
c.789G= (p.Leu263=)
c.870G= (p.Leu290=)
c.852G= (p.Leu284=)
c.750G= (p.Leu250=)
n.1486-725C=
c.930G= (p.Leu310=)
c.1032G= (p.Leu344=)
c.972G= (p.Leu324=)
n.4197-725C=
c.855G= (p.Leu285=)
c.873G= (p.Leu291=)
c.630G= (p.Leu210=)
c.663G= (p.Leu221=)
c.681G= (p.Leu227=)
2g.127427113G>TCA428618481PROCc.687G>T (p.Leu229=)
c.121-1244G>T
c.789G>T (p.Leu263=)
c.870G>T (p.Leu290=)
c.852G>T (p.Leu284=)
c.750G>T (p.Leu250=)
n.1486-725C>A
c.930G>T (p.Leu310=)
c.1032G>T (p.Leu344=)
c.972G>T (p.Leu324=)
n.4197-725C>A
c.855G>T (p.Leu285=)
c.873G>T (p.Leu291=)
c.630G>T (p.Leu210=)
c.663G>T (p.Leu221=)
c.681G>T (p.Leu227=)
2g.127427114C>ACA348402013PROCc.688C>A (p.Leu230Met)
c.121-1243C>A
c.790C>A (p.Leu264Met)
c.871C>A (p.Leu291Met)
c.853C>A (p.Leu285Met)
c.751C>A (p.Leu251Met)
n.1486-726G>T
c.931C>A (p.Leu311Met)
c.1033C>A (p.Leu345Met)
c.973C>A (p.Leu325Met)
n.4197-726G>T
c.856C>A (p.Leu286Met)
c.874C>A (p.Leu292Met)
c.631C>A (p.Leu211Met)
c.664C>A (p.Leu222Met)
c.682C>A (p.Leu228Met)
2g.127427114C>GCA348402015PROCc.688C>G (p.Leu230Val)
c.121-1243C>G
c.790C>G (p.Leu264Val)
c.871C>G (p.Leu291Val)
c.853C>G (p.Leu285Val)
c.751C>G (p.Leu251Val)
n.1486-726G>C
c.931C>G (p.Leu311Val)
c.1033C>G (p.Leu345Val)
c.973C>G (p.Leu325Val)
n.4197-726G>C
c.856C>G (p.Leu286Val)
c.874C>G (p.Leu292Val)
c.631C>G (p.Leu211Val)
c.664C>G (p.Leu222Val)
c.682C>G (p.Leu228Val)
2g.127427114C>TCA428618485PROCc.688C>T (p.Leu230=)
c.121-1243C>T
c.790C>T (p.Leu264=)
c.871C>T (p.Leu291=)
c.853C>T (p.Leu285=)
c.751C>T (p.Leu251=)
n.1486-726G>A
c.931C>T (p.Leu311=)
c.1033C>T (p.Leu345=)
c.973C>T (p.Leu325=)
n.4197-726G>A
c.856C>T (p.Leu286=)
c.874C>T (p.Leu292=)
c.631C>T (p.Leu211=)
c.664C>T (p.Leu222=)
c.682C>T (p.Leu228=)
2g.127427115T>ACA348402017PROCc.689T>A (p.Leu230Gln)
c.121-1242T>A
c.791T>A (p.Leu264Gln)
c.872T>A (p.Leu291Gln)
c.854T>A (p.Leu285Gln)
c.752T>A (p.Leu251Gln)
n.1486-727A>T
c.932T>A (p.Leu311Gln)
c.1034T>A (p.Leu345Gln)
c.974T>A (p.Leu325Gln)
n.4197-727A>T
c.857T>A (p.Leu286Gln)
c.875T>A (p.Leu292Gln)
c.632T>A (p.Leu211Gln)
c.665T>A (p.Leu222Gln)
c.683T>A (p.Leu228Gln)
2g.127427115T>CCA348402019PROCc.689T>C (p.Leu230Pro)
c.121-1242T>C
c.791T>C (p.Leu264Pro)
c.872T>C (p.Leu291Pro)
c.854T>C (p.Leu285Pro)
c.752T>C (p.Leu251Pro)
n.1486-727A>G
c.932T>C (p.Leu311Pro)
c.1034T>C (p.Leu345Pro)
c.974T>C (p.Leu325Pro)
n.4197-727A>G
c.857T>C (p.Leu286Pro)
c.875T>C (p.Leu292Pro)
c.632T>C (p.Leu211Pro)
c.665T>C (p.Leu222Pro)
c.683T>C (p.Leu228Pro)
2g.127427115T>GCA348402021PROCc.689T>G (p.Leu230Arg)
c.121-1242T>G
c.791T>G (p.Leu264Arg)
c.872T>G (p.Leu291Arg)
c.854T>G (p.Leu285Arg)
c.752T>G (p.Leu251Arg)
n.1486-727A>C
c.932T>G (p.Leu311Arg)
c.1034T>G (p.Leu345Arg)
c.974T>G (p.Leu325Arg)
n.4197-727A>C
c.857T>G (p.Leu286Arg)
c.875T>G (p.Leu292Arg)
c.632T>G (p.Leu211Arg)
c.665T>G (p.Leu222Arg)
c.683T>G (p.Leu228Arg)
2g.127427116G>ACA428618490PROCc.690G>A (p.Leu230=)
c.121-1241G>A
c.792G>A (p.Leu264=)
c.873G>A (p.Leu291=)
c.855G>A (p.Leu285=)
c.753G>A (p.Leu251=)
n.1486-728C>T
c.933G>A (p.Leu311=)
c.1035G>A (p.Leu345=)
c.975G>A (p.Leu325=)
n.4197-728C>T
c.858G>A (p.Leu286=)
c.876G>A (p.Leu292=)
c.633G>A (p.Leu211=)
c.666G>A (p.Leu222=)
c.684G>A (p.Leu228=)
2g.127427116G>CCA428618491PROCc.690G>C (p.Leu230=)
c.121-1241G>C
c.792G>C (p.Leu264=)
c.873G>C (p.Leu291=)
c.855G>C (p.Leu285=)
c.753G>C (p.Leu251=)
n.1486-728C>G
c.933G>C (p.Leu311=)
c.1035G>C (p.Leu345=)
c.975G>C (p.Leu325=)
n.4197-728C>G
c.858G>C (p.Leu286=)
c.876G>C (p.Leu292=)
c.633G>C (p.Leu211=)
c.666G>C (p.Leu222=)
c.684G>C (p.Leu228=)
2g.127427116G>TCA428618495PROCc.690G>T (p.Leu230=)
c.121-1241G>T
c.792G>T (p.Leu264=)
c.873G>T (p.Leu291=)
c.855G>T (p.Leu285=)
c.753G>T (p.Leu251=)
n.1486-728C>A
c.933G>T (p.Leu311=)
c.1035G>T (p.Leu345=)
c.975G>T (p.Leu325=)
n.4197-728C>A
c.858G>T (p.Leu286=)
c.876G>T (p.Leu292=)
c.633G>T (p.Leu211=)
c.666G>T (p.Leu222=)
c.684G>T (p.Leu228=)
2g.127427117G>ACA348402025PROCc.691G>A (p.Asp231Asn)
c.121-1240G>A
c.793G>A (p.Asp265Asn)
c.874G>A (p.Asp292Asn)
c.856G>A (p.Asp286Asn)
c.754G>A (p.Asp252Asn)
n.1486-729C>T
c.934G>A (p.Asp312Asn)
c.1036G>A (p.Asp346Asn)
c.976G>A (p.Asp326Asn)
n.4197-729C>T
c.859G>A (p.Asp287Asn)
c.877G>A (p.Asp293Asn)
c.634G>A (p.Asp212Asn)
c.667G>A (p.Asp223Asn)
c.685G>A (p.Asp229Asn)
2g.127427117G>CCA348402028PROCc.691G>C (p.Asp231His)
c.121-1240G>C
c.793G>C (p.Asp265His)
c.874G>C (p.Asp292His)
c.856G>C (p.Asp286His)
c.754G>C (p.Asp252His)
n.1486-729C>G
c.934G>C (p.Asp312His)
c.1036G>C (p.Asp346His)
c.976G>C (p.Asp326His)
n.4197-729C>G
c.859G>C (p.Asp287His)
c.877G>C (p.Asp293His)
c.634G>C (p.Asp212His)
c.667G>C (p.Asp223His)
c.685G>C (p.Asp229His)
2g.127427117G>TCA348402031PROCc.691G>T (p.Asp231Tyr)
c.121-1240G>T
c.793G>T (p.Asp265Tyr)
c.874G>T (p.Asp292Tyr)
c.856G>T (p.Asp286Tyr)
c.754G>T (p.Asp252Tyr)
n.1486-729C>A
c.934G>T (p.Asp312Tyr)
c.1036G>T (p.Asp346Tyr)
c.976G>T (p.Asp326Tyr)
n.4197-729C>A
c.859G>T (p.Asp287Tyr)
c.877G>T (p.Asp293Tyr)
c.634G>T (p.Asp212Tyr)
c.667G>T (p.Asp223Tyr)
c.685G>T (p.Asp229Tyr)
2g.127427118A>CCA348402036PROCc.692A>C (p.Asp231Ala)
c.121-1239A>C
c.794A>C (p.Asp265Ala)
c.875A>C (p.Asp292Ala)
c.857A>C (p.Asp286Ala)
c.755A>C (p.Asp252Ala)
n.1486-730T>G
c.935A>C (p.Asp312Ala)
c.1037A>C (p.Asp346Ala)
c.977A>C (p.Asp326Ala)
n.4197-730T>G
c.860A>C (p.Asp287Ala)
c.878A>C (p.Asp293Ala)
c.635A>C (p.Asp212Ala)
c.668A>C (p.Asp223Ala)
c.686A>C (p.Asp229Ala)
2g.127427118A>GCA348402039PROCc.692A>G (p.Asp231Gly)
c.121-1239A>G
c.794A>G (p.Asp265Gly)
c.875A>G (p.Asp292Gly)
c.857A>G (p.Asp286Gly)
c.755A>G (p.Asp252Gly)
n.1486-730T>C
c.935A>G (p.Asp312Gly)
c.1037A>G (p.Asp346Gly)
c.977A>G (p.Asp326Gly)
n.4197-730T>C
c.860A>G (p.Asp287Gly)
c.878A>G (p.Asp293Gly)
c.635A>G (p.Asp212Gly)
c.668A>G (p.Asp223Gly)
c.686A>G (p.Asp229Gly)
2g.127427118A>TCA348402034PROCc.692A>T (p.Asp231Val)
c.121-1239A>T
c.794A>T (p.Asp265Val)
c.875A>T (p.Asp292Val)
c.857A>T (p.Asp286Val)
c.755A>T (p.Asp252Val)
n.1486-730T>A
c.935A>T (p.Asp312Val)
c.1037A>T (p.Asp346Val)
c.977A>T (p.Asp326Val)
n.4197-730T>A
c.860A>T (p.Asp287Val)
c.878A>T (p.Asp293Val)
c.635A>T (p.Asp212Val)
c.668A>T (p.Asp223Val)
c.686A>T (p.Asp229Val)
2g.127427119C>ACA348402043PROCc.693C>A (p.Asp231Glu)
c.121-1238C>A
c.795C>A (p.Asp265Glu)
c.876C>A (p.Asp292Glu)
c.858C>A (p.Asp286Glu)
c.756C>A (p.Asp252Glu)
n.1486-731G>T
c.936C>A (p.Asp312Glu)
c.1038C>A (p.Asp346Glu)
c.978C>A (p.Asp326Glu)
n.4197-731G>T
c.861C>A (p.Asp287Glu)
c.879C>A (p.Asp293Glu)
c.636C>A (p.Asp212Glu)
c.669C>A (p.Asp223Glu)
c.687C>A (p.Asp229Glu)
 dbSNP
2g.127427119C=CA1286883837PROCc.693C= (p.Asp231=)
c.121-1238C=
c.795C= (p.Asp265=)
c.876C= (p.Asp292=)
c.858C= (p.Asp286=)
c.756C= (p.Asp252=)
n.1486-731G=
c.936C= (p.Asp312=)
c.1038C= (p.Asp346=)
c.978C= (p.Asp326=)
n.4197-731G=
c.861C= (p.Asp287=)
c.879C= (p.Asp293=)
c.636C= (p.Asp212=)
c.669C= (p.Asp223=)
c.687C= (p.Asp229=)
2g.127427119C>GCA348402041PROCc.693C>G (p.Asp231Glu)
c.121-1238C>G
c.795C>G (p.Asp265Glu)
c.876C>G (p.Asp292Glu)
c.858C>G (p.Asp286Glu)
c.756C>G (p.Asp252Glu)
n.1486-731G>C
c.936C>G (p.Asp312Glu)
c.1038C>G (p.Asp346Glu)
c.978C>G (p.Asp326Glu)
n.4197-731G>C
c.861C>G (p.Asp287Glu)
c.879C>G (p.Asp293Glu)
c.636C>G (p.Asp212Glu)
c.669C>G (p.Asp223Glu)
c.687C>G (p.Asp229Glu)
2g.127427119C>TCA428618501PROCc.693C>T (p.Asp231=)
c.121-1238C>T
c.795C>T (p.Asp265=)
c.876C>T (p.Asp292=)
c.858C>T (p.Asp286=)
c.756C>T (p.Asp252=)
n.1486-731G>A
c.936C>T (p.Asp312=)
c.1038C>T (p.Asp346=)
c.978C>T (p.Asp326=)
n.4197-731G>A
c.861C>T (p.Asp287=)
c.879C>T (p.Asp293=)
c.636C>T (p.Asp212=)
c.669C>T (p.Asp223=)
c.687C>T (p.Asp229=)
2g.127427120T>ACA348402053PROCc.694T>A (p.Ser232Thr)
c.121-1237T>A
c.796T>A (p.Ser266Thr)
c.877T>A (p.Ser293Thr)
c.859T>A (p.Ser287Thr)
c.757T>A (p.Ser253Thr)
n.1486-732A>T
c.937T>A (p.Ser313Thr)
c.1039T>A (p.Ser347Thr)
c.979T>A (p.Ser327Thr)
n.4197-732A>T
c.862T>A (p.Ser288Thr)
c.880T>A (p.Ser294Thr)
c.637T>A (p.Ser213Thr)
c.670T>A (p.Ser224Thr)
c.688T>A (p.Ser230Thr)
2g.127427120T>CCA348402048PROCc.694T>C (p.Ser232Pro)
c.121-1237T>C
c.796T>C (p.Ser266Pro)
c.877T>C (p.Ser293Pro)
c.859T>C (p.Ser287Pro)
c.757T>C (p.Ser253Pro)
n.1486-732A>G
c.937T>C (p.Ser313Pro)
c.1039T>C (p.Ser347Pro)
c.979T>C (p.Ser327Pro)
n.4197-732A>G
c.862T>C (p.Ser288Pro)
c.880T>C (p.Ser294Pro)
c.637T>C (p.Ser213Pro)
c.670T>C (p.Ser224Pro)
c.688T>C (p.Ser230Pro)
2g.127427120T>GCA348402051PROCc.694T>G (p.Ser232Ala)
c.121-1237T>G
c.796T>G (p.Ser266Ala)
c.877T>G (p.Ser293Ala)
c.859T>G (p.Ser287Ala)
c.757T>G (p.Ser253Ala)
n.1486-732A>C
c.937T>G (p.Ser313Ala)
c.1039T>G (p.Ser347Ala)
c.979T>G (p.Ser327Ala)
n.4197-732A>C
c.862T>G (p.Ser288Ala)
c.880T>G (p.Ser294Ala)
c.637T>G (p.Ser213Ala)
c.670T>G (p.Ser224Ala)
c.688T>G (p.Ser230Ala)
2g.127427121C>ACA348402055PROCc.695C>A (p.Ser232Ter)
c.121-1236C>A
c.797C>A (p.Ser266Ter)
c.878C>A (p.Ser293Ter)
c.860C>A (p.Ser287Ter)
c.758C>A (p.Ser253Ter)
n.1486-733G>T
c.938C>A (p.Ser313Ter)
c.1040C>A (p.Ser347Ter)
c.980C>A (p.Ser327Ter)
n.4197-733G>T
c.863C>A (p.Ser288Ter)
c.881C>A (p.Ser294Ter)
c.638C>A (p.Ser213Ter)
c.671C>A (p.Ser224Ter)
c.689C>A (p.Ser230Ter)
2g.127427121C>GCA348402058PROCc.695C>G (p.Ser232Ter)
c.121-1236C>G
c.797C>G (p.Ser266Ter)
c.878C>G (p.Ser293Ter)
c.860C>G (p.Ser287Ter)
c.758C>G (p.Ser253Ter)
n.1486-733G>C
c.938C>G (p.Ser313Ter)
c.1040C>G (p.Ser347Ter)
c.980C>G (p.Ser327Ter)
n.4197-733G>C
c.863C>G (p.Ser288Ter)
c.881C>G (p.Ser294Ter)
c.638C>G (p.Ser213Ter)
c.671C>G (p.Ser224Ter)
c.689C>G (p.Ser230Ter)
2g.127427121C>TCA348402061PROCc.695C>T (p.Ser232Leu)
c.121-1236C>T
c.797C>T (p.Ser266Leu)
c.878C>T (p.Ser293Leu)
c.860C>T (p.Ser287Leu)
c.758C>T (p.Ser253Leu)
n.1486-733G>A
c.938C>T (p.Ser313Leu)
c.1040C>T (p.Ser347Leu)
c.980C>T (p.Ser327Leu)
n.4197-733G>A
c.863C>T (p.Ser288Leu)
c.881C>T (p.Ser294Leu)
c.638C>T (p.Ser213Leu)
c.671C>T (p.Ser224Leu)
c.689C>T (p.Ser230Leu)
2g.127427122A=CA1286883838PROCc.696A= (p.Ser232=)
c.121-1235A=
c.798A= (p.Ser266=)
c.879A= (p.Ser293=)
c.861A= (p.Ser287=)
c.759A= (p.Ser253=)
n.1486-734T=
c.939A= (p.Ser313=)
c.1041A= (p.Ser347=)
c.981A= (p.Ser327=)
n.4197-734T=
c.864A= (p.Ser288=)
c.882A= (p.Ser294=)
c.639A= (p.Ser213=)
c.672A= (p.Ser224=)
c.690A= (p.Ser230=)
2g.127427122A>CCA428618504PROCc.696A>C (p.Ser232=)
c.121-1235A>C
c.798A>C (p.Ser266=)
c.879A>C (p.Ser293=)
c.861A>C (p.Ser287=)
c.759A>C (p.Ser253=)
n.1486-734T>G
c.939A>C (p.Ser313=)
c.1041A>C (p.Ser347=)
c.981A>C (p.Ser327=)
n.4197-734T>G
c.864A>C (p.Ser288=)
c.882A>C (p.Ser294=)
c.639A>C (p.Ser213=)
c.672A>C (p.Ser224=)
c.690A>C (p.Ser230=)
2g.127427122A>GCA428618505PROCc.696A>G (p.Ser232=)
c.121-1235A>G
c.798A>G (p.Ser266=)
c.879A>G (p.Ser293=)
c.861A>G (p.Ser287=)
c.759A>G (p.Ser253=)
n.1486-734T>C
c.939A>G (p.Ser313=)
c.1041A>G (p.Ser347=)
c.981A>G (p.Ser327=)
n.4197-734T>C
c.864A>G (p.Ser288=)
c.882A>G (p.Ser294=)
c.639A>G (p.Ser213=)
c.672A>G (p.Ser224=)
c.690A>G (p.Ser230=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427122A>TCA428618506PROCc.696A>T (p.Ser232=)
c.121-1235A>T
c.798A>T (p.Ser266=)
c.879A>T (p.Ser293=)
c.861A>T (p.Ser287=)
c.759A>T (p.Ser253=)
n.1486-734T>A
c.939A>T (p.Ser313=)
c.1041A>T (p.Ser347=)
c.981A>T (p.Ser327=)
n.4197-734T>A
c.864A>T (p.Ser288=)
c.882A>T (p.Ser294=)
c.639A>T (p.Ser213=)
c.672A>T (p.Ser224=)
c.690A>T (p.Ser230=)
2g.127427124dupCA915940335PROCc.698dup (p.Lys234GlufsTer24)
c.121-1233dup
c.800dup (p.Lys268GlufsTer24)
c.881dup (p.Lys295GlufsTer24)
c.863dup (p.Lys289GlufsTer24)
c.761dup (p.Lys255GlufsTer24)
n.1486-734dup
c.941dup (p.Lys315GlufsTer24)
c.1043dup (p.Lys349GlufsTer24)
c.983dup (p.Lys329GlufsTer24)
n.4197-734dup
c.866dup (p.Lys290GlufsTer24)
c.884dup (p.Lys296GlufsTer24)
c.641dup (p.Lys215GlufsTer24)
c.674dup (p.Lys226GlufsTer24)
c.692dup (p.Lys232GlufsTer24)
 ClinVar gnomAD v4
2g.127427122_127427125delinsAAAGCA1286883839PROCc.696_699delinsAAAG (p.Ser232=)
c.121-1235_121-1232delinsAAAG
c.798_801delinsAAAG (p.Ser266=)
c.879_882delinsAAAG (p.Ser293=)
c.861_864delinsAAAG (p.Ser287=)
c.759_762delinsAAAG (p.Ser253=)
n.1486-737_1486-734delinsCTTT
c.939_942delinsAAAG (p.Ser313=)
c.1041_1044delinsAAAG (p.Ser347=)
c.981_984delinsAAAG (p.Ser327=)
n.4197-737_4197-734delinsCTTT
c.864_867delinsAAAG (p.Ser288=)
c.882_885delinsAAAG (p.Ser294=)
c.639_642delinsAAAG (p.Ser213=)
c.672_675delinsAAAG (p.Ser224=)
c.690_693delinsAAAG (p.Ser230=)
2g.127427123A=CA1286883840PROCc.697A= (p.Lys233=)
c.121-1234A=
c.799A= (p.Lys267=)
c.880A= (p.Lys294=)
c.862A= (p.Lys288=)
c.760A= (p.Lys254=)
n.1486-735T=
c.940A= (p.Lys314=)
c.1042A= (p.Lys348=)
c.982A= (p.Lys328=)
n.4197-735T=
c.865A= (p.Lys289=)
c.883A= (p.Lys295=)
c.640A= (p.Lys214=)
c.673A= (p.Lys225=)
c.691A= (p.Lys231=)
2g.127427123A>CCA348402062PROCc.697A>C (p.Lys233Gln)
c.121-1234A>C
c.799A>C (p.Lys267Gln)
c.880A>C (p.Lys294Gln)
c.862A>C (p.Lys288Gln)
c.760A>C (p.Lys254Gln)
n.1486-735T>G
c.940A>C (p.Lys314Gln)
c.1042A>C (p.Lys348Gln)
c.982A>C (p.Lys328Gln)
n.4197-735T>G
c.865A>C (p.Lys289Gln)
c.883A>C (p.Lys295Gln)
c.640A>C (p.Lys214Gln)
c.673A>C (p.Lys225Gln)
c.691A>C (p.Lys231Gln)
2g.127427123A>GCA1859424PROCc.697A>G (p.Lys233Glu)
c.121-1234A>G
c.799A>G (p.Lys267Glu)
c.880A>G (p.Lys294Glu)
c.862A>G (p.Lys288Glu)
c.760A>G (p.Lys254Glu)
n.1486-735T>C
c.940A>G (p.Lys314Glu)
c.1042A>G (p.Lys348Glu)
c.982A>G (p.Lys328Glu)
n.4197-735T>C
c.865A>G (p.Lys289Glu)
c.883A>G (p.Lys295Glu)
c.640A>G (p.Lys214Glu)
c.673A>G (p.Lys225Glu)
c.691A>G (p.Lys231Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427123A>TCA348402064PROCc.697A>T (p.Lys233Ter)
c.121-1234A>T
c.799A>T (p.Lys267Ter)
c.880A>T (p.Lys294Ter)
c.862A>T (p.Lys288Ter)
c.760A>T (p.Lys254Ter)
n.1486-735T>A
c.940A>T (p.Lys314Ter)
c.1042A>T (p.Lys348Ter)
c.982A>T (p.Lys328Ter)
n.4197-735T>A
c.865A>T (p.Lys289Ter)
c.883A>T (p.Lys295Ter)
c.640A>T (p.Lys214Ter)
c.673A>T (p.Lys225Ter)
c.691A>T (p.Lys231Ter)
2g.127427129_127427131delCA916081313PROCc.703_705del (p.Lys235del)
c.121-1228_121-1226del
c.805_807del (p.Lys269del)
c.886_888del (p.Lys296del)
c.868_870del (p.Lys290del)
c.766_768del (p.Lys256del)
n.1486-737_1486-735del
c.946_948del (p.Lys316del)
c.1048_1050del (p.Lys350del)
c.988_990del (p.Lys330del)
n.4197-737_4197-735del
c.871_873del (p.Lys291del)
c.889_891del (p.Lys297del)
c.646_648del (p.Lys216del)
c.679_681del (p.Lys227del)
c.697_699del (p.Lys233del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127427124A=CA1286883841PROCc.698A= (p.Lys233=)
c.121-1233A=
c.800A= (p.Lys267=)
c.881A= (p.Lys294=)
c.863A= (p.Lys288=)
c.761A= (p.Lys254=)
n.1486-736T=
c.941A= (p.Lys314=)
c.1043A= (p.Lys348=)
c.983A= (p.Lys328=)
n.4197-736T=
c.866A= (p.Lys289=)
c.884A= (p.Lys295=)
c.641A= (p.Lys214=)
c.674A= (p.Lys225=)
c.692A= (p.Lys231=)
2g.127427124A>CCA348402068PROCc.698A>C (p.Lys233Thr)
c.121-1233A>C
c.800A>C (p.Lys267Thr)
c.881A>C (p.Lys294Thr)
c.863A>C (p.Lys288Thr)
c.761A>C (p.Lys254Thr)
n.1486-736T>G
c.941A>C (p.Lys314Thr)
c.1043A>C (p.Lys348Thr)
c.983A>C (p.Lys328Thr)
n.4197-736T>G
c.866A>C (p.Lys289Thr)
c.884A>C (p.Lys295Thr)
c.641A>C (p.Lys214Thr)
c.674A>C (p.Lys225Thr)
c.692A>C (p.Lys231Thr)
2g.127427124A>GCA348402070PROCc.698A>G (p.Lys233Arg)
c.121-1233A>G
c.800A>G (p.Lys267Arg)
c.881A>G (p.Lys294Arg)
c.863A>G (p.Lys288Arg)
c.761A>G (p.Lys254Arg)
n.1486-736T>C
c.941A>G (p.Lys314Arg)
c.1043A>G (p.Lys348Arg)
c.983A>G (p.Lys328Arg)
n.4197-736T>C
c.866A>G (p.Lys289Arg)
c.884A>G (p.Lys295Arg)
c.641A>G (p.Lys214Arg)
c.674A>G (p.Lys225Arg)
c.692A>G (p.Lys231Arg)
 dbSNP gnomAD v2
2g.127427124A>TCA348402073PROCc.698A>T (p.Lys233Met)
c.121-1233A>T
c.800A>T (p.Lys267Met)
c.881A>T (p.Lys294Met)
c.863A>T (p.Lys288Met)
c.761A>T (p.Lys254Met)
n.1486-736T>A
c.941A>T (p.Lys314Met)
c.1043A>T (p.Lys348Met)
c.983A>T (p.Lys328Met)
n.4197-736T>A
c.866A>T (p.Lys289Met)
c.884A>T (p.Lys295Met)
c.641A>T (p.Lys214Met)
c.674A>T (p.Lys225Met)
c.692A>T (p.Lys231Met)
2g.127427125G>ACA428618510PROCc.699G>A (p.Lys233=)
c.121-1232G>A
c.801G>A (p.Lys267=)
c.882G>A (p.Lys294=)
c.864G>A (p.Lys288=)
c.762G>A (p.Lys254=)
n.1486-737C>T
c.942G>A (p.Lys314=)
c.1044G>A (p.Lys348=)
c.984G>A (p.Lys328=)
n.4197-737C>T
c.867G>A (p.Lys289=)
c.885G>A (p.Lys295=)
c.642G>A (p.Lys214=)
c.675G>A (p.Lys225=)
c.693G>A (p.Lys231=)
2g.127427125G>CCA348402076PROCc.699G>C (p.Lys233Asn)
c.121-1232G>C
c.801G>C (p.Lys267Asn)
c.882G>C (p.Lys294Asn)
c.864G>C (p.Lys288Asn)
c.762G>C (p.Lys254Asn)
n.1486-737C>G
c.942G>C (p.Lys314Asn)
c.1044G>C (p.Lys348Asn)
c.984G>C (p.Lys328Asn)
n.4197-737C>G
c.867G>C (p.Lys289Asn)
c.885G>C (p.Lys295Asn)
c.642G>C (p.Lys214Asn)
c.675G>C (p.Lys225Asn)
c.693G>C (p.Lys231Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.127427125G=CA1286883842PROCc.699G= (p.Lys233=)
c.121-1232G=
c.801G= (p.Lys267=)
c.882G= (p.Lys294=)
c.864G= (p.Lys288=)
c.762G= (p.Lys254=)
n.1486-737C=
c.942G= (p.Lys314=)
c.1044G= (p.Lys348=)
c.984G= (p.Lys328=)
n.4197-737C=
c.867G= (p.Lys289=)
c.885G= (p.Lys295=)
c.642G= (p.Lys214=)
c.675G= (p.Lys225=)
c.693G= (p.Lys231=)
2g.127427125G>TCA348402078PROCc.699G>T (p.Lys233Asn)
c.121-1232G>T
c.801G>T (p.Lys267Asn)
c.882G>T (p.Lys294Asn)
c.864G>T (p.Lys288Asn)
c.762G>T (p.Lys254Asn)
n.1486-737C>A
c.942G>T (p.Lys314Asn)
c.1044G>T (p.Lys348Asn)
c.984G>T (p.Lys328Asn)
n.4197-737C>A
c.867G>T (p.Lys289Asn)
c.885G>T (p.Lys295Asn)
c.642G>T (p.Lys214Asn)
c.675G>T (p.Lys225Asn)
c.693G>T (p.Lys231Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127427126A>CCA348402080PROCc.700A>C (p.Lys234Gln)
c.121-1231A>C
c.802A>C (p.Lys268Gln)
c.883A>C (p.Lys295Gln)
c.865A>C (p.Lys289Gln)
c.763A>C (p.Lys255Gln)
n.1486-738T>G
c.943A>C (p.Lys315Gln)
c.1045A>C (p.Lys349Gln)
c.985A>C (p.Lys329Gln)
n.4197-738T>G
c.868A>C (p.Lys290Gln)
c.886A>C (p.Lys296Gln)
c.643A>C (p.Lys215Gln)
c.676A>C (p.Lys226Gln)
c.694A>C (p.Lys232Gln)
2g.127427126A>GCA348402083PROCc.700A>G (p.Lys234Glu)
c.121-1231A>G
c.802A>G (p.Lys268Glu)
c.883A>G (p.Lys295Glu)
c.865A>G (p.Lys289Glu)
c.763A>G (p.Lys255Glu)
n.1486-738T>C
c.943A>G (p.Lys315Glu)
c.1045A>G (p.Lys349Glu)
c.985A>G (p.Lys329Glu)
n.4197-738T>C
c.868A>G (p.Lys290Glu)
c.886A>G (p.Lys296Glu)
c.643A>G (p.Lys215Glu)
c.676A>G (p.Lys226Glu)
c.694A>G (p.Lys232Glu)
2g.127427126A>TCA348402081PROCc.700A>T (p.Lys234Ter)
c.121-1231A>T
c.802A>T (p.Lys268Ter)
c.883A>T (p.Lys295Ter)
c.865A>T (p.Lys289Ter)
c.763A>T (p.Lys255Ter)
n.1486-738T>A
c.943A>T (p.Lys315Ter)
c.1045A>T (p.Lys349Ter)
c.985A>T (p.Lys329Ter)
n.4197-738T>A
c.868A>T (p.Lys290Ter)
c.886A>T (p.Lys296Ter)
c.643A>T (p.Lys215Ter)
c.676A>T (p.Lys226Ter)
c.694A>T (p.Lys232Ter)
2g.127427127A>CCA348402085PROCc.701A>C (p.Lys234Thr)
c.121-1230A>C
c.803A>C (p.Lys268Thr)
c.884A>C (p.Lys295Thr)
c.866A>C (p.Lys289Thr)
c.764A>C (p.Lys255Thr)
n.1486-739T>G
c.944A>C (p.Lys315Thr)
c.1046A>C (p.Lys349Thr)
c.986A>C (p.Lys329Thr)
n.4197-739T>G
c.869A>C (p.Lys290Thr)
c.887A>C (p.Lys296Thr)
c.644A>C (p.Lys215Thr)
c.677A>C (p.Lys226Thr)
c.695A>C (p.Lys232Thr)
2g.127427127A>GCA348402087PROCc.701A>G (p.Lys234Arg)
c.121-1230A>G
c.803A>G (p.Lys268Arg)
c.884A>G (p.Lys295Arg)
c.866A>G (p.Lys289Arg)
c.764A>G (p.Lys255Arg)
n.1486-739T>C
c.944A>G (p.Lys315Arg)
c.1046A>G (p.Lys349Arg)
c.986A>G (p.Lys329Arg)
n.4197-739T>C
c.869A>G (p.Lys290Arg)
c.887A>G (p.Lys296Arg)
c.644A>G (p.Lys215Arg)
c.677A>G (p.Lys226Arg)
c.695A>G (p.Lys232Arg)
2g.127427127A>TCA348402089PROCc.701A>T (p.Lys234Met)
c.121-1230A>T
c.803A>T (p.Lys268Met)
c.884A>T (p.Lys295Met)
c.866A>T (p.Lys289Met)
c.764A>T (p.Lys255Met)
n.1486-739T>A
c.944A>T (p.Lys315Met)
c.1046A>T (p.Lys349Met)
c.986A>T (p.Lys329Met)
n.4197-739T>A
c.869A>T (p.Lys290Met)
c.887A>T (p.Lys296Met)
c.644A>T (p.Lys215Met)
c.677A>T (p.Lys226Met)
c.695A>T (p.Lys232Met)
2g.127427128G>ACA428618514PROCc.702G>A (p.Lys234=)
c.121-1229G>A
c.804G>A (p.Lys268=)
c.885G>A (p.Lys295=)
c.867G>A (p.Lys289=)
c.765G>A (p.Lys255=)
n.1486-740C>T
c.945G>A (p.Lys315=)
c.1047G>A (p.Lys349=)
c.987G>A (p.Lys329=)
n.4197-740C>T
c.870G>A (p.Lys290=)
c.888G>A (p.Lys296=)
c.645G>A (p.Lys215=)
c.678G>A (p.Lys226=)
c.696G>A (p.Lys232=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127427128G>CCA348402093PROCc.702G>C (p.Lys234Asn)
c.121-1229G>C
c.804G>C (p.Lys268Asn)
c.885G>C (p.Lys295Asn)
c.867G>C (p.Lys289Asn)
c.765G>C (p.Lys255Asn)
n.1486-740C>G
c.945G>C (p.Lys315Asn)
c.1047G>C (p.Lys349Asn)
c.987G>C (p.Lys329Asn)
n.4197-740C>G
c.870G>C (p.Lys290Asn)
c.888G>C (p.Lys296Asn)
c.645G>C (p.Lys215Asn)
c.678G>C (p.Lys226Asn)
c.696G>C (p.Lys232Asn)
2g.127427128G=CA1286883843PROCc.702G= (p.Lys234=)
c.121-1229G=
c.804G= (p.Lys268=)
c.885G= (p.Lys295=)
c.867G= (p.Lys289=)
c.765G= (p.Lys255=)
n.1486-740C=
c.945G= (p.Lys315=)
c.1047G= (p.Lys349=)
c.987G= (p.Lys329=)
n.4197-740C=
c.870G= (p.Lys290=)
c.888G= (p.Lys296=)
c.645G= (p.Lys215=)
c.678G= (p.Lys226=)
c.696G= (p.Lys232=)
2g.127427128G>TCA348402095PROCc.702G>T (p.Lys234Asn)
c.121-1229G>T
c.804G>T (p.Lys268Asn)
c.885G>T (p.Lys295Asn)
c.867G>T (p.Lys289Asn)
c.765G>T (p.Lys255Asn)
n.1486-740C>A
c.945G>T (p.Lys315Asn)
c.1047G>T (p.Lys349Asn)
c.987G>T (p.Lys329Asn)
n.4197-740C>A
c.870G>T (p.Lys290Asn)
c.888G>T (p.Lys296Asn)
c.645G>T (p.Lys215Asn)
c.678G>T (p.Lys226Asn)
c.696G>T (p.Lys232Asn)
2g.127427129A=CA1286883844PROCc.703A= (p.Lys235=)
c.121-1228A=
c.805A= (p.Lys269=)
c.886A= (p.Lys296=)
c.868A= (p.Lys290=)
c.766A= (p.Lys256=)
n.1486-741T=
c.946A= (p.Lys316=)
c.1048A= (p.Lys350=)
c.988A= (p.Lys330=)
n.4197-741T=
c.871A= (p.Lys291=)
c.889A= (p.Lys297=)
c.646A= (p.Lys216=)
c.679A= (p.Lys227=)
c.697A= (p.Lys233=)
2g.127427129A>CCA1859425PROCc.703A>C (p.Lys235Gln)
c.121-1228A>C
c.805A>C (p.Lys269Gln)
c.886A>C (p.Lys296Gln)
c.868A>C (p.Lys290Gln)
c.766A>C (p.Lys256Gln)
n.1486-741T>G
c.946A>C (p.Lys316Gln)
c.1048A>C (p.Lys350Gln)
c.988A>C (p.Lys330Gln)
n.4197-741T>G
c.871A>C (p.Lys291Gln)
c.889A>C (p.Lys297Gln)
c.646A>C (p.Lys216Gln)
c.679A>C (p.Lys227Gln)
c.697A>C (p.Lys233Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427129A>GCA348402100PROCc.703A>G (p.Lys235Glu)
c.121-1228A>G
c.805A>G (p.Lys269Glu)
c.886A>G (p.Lys296Glu)
c.868A>G (p.Lys290Glu)
c.766A>G (p.Lys256Glu)
n.1486-741T>C
c.946A>G (p.Lys316Glu)
c.1048A>G (p.Lys350Glu)
c.988A>G (p.Lys330Glu)
n.4197-741T>C
c.871A>G (p.Lys291Glu)
c.889A>G (p.Lys297Glu)
c.646A>G (p.Lys216Glu)
c.679A>G (p.Lys227Glu)
c.697A>G (p.Lys233Glu)
2g.127427129A>TCA348402103PROCc.703A>T (p.Lys235Ter)
c.121-1228A>T
c.805A>T (p.Lys269Ter)
c.886A>T (p.Lys296Ter)
c.868A>T (p.Lys290Ter)
c.766A>T (p.Lys256Ter)
n.1486-741T>A
c.946A>T (p.Lys316Ter)
c.1048A>T (p.Lys350Ter)
c.988A>T (p.Lys330Ter)
n.4197-741T>A
c.871A>T (p.Lys291Ter)
c.889A>T (p.Lys297Ter)
c.646A>T (p.Lys216Ter)
c.679A>T (p.Lys227Ter)
c.697A>T (p.Lys233Ter)
2g.127427130A=CA1286883845PROCc.704A= (p.Lys235=)
c.121-1227A=
c.806A= (p.Lys269=)
c.887A= (p.Lys296=)
c.869A= (p.Lys290=)
c.767A= (p.Lys256=)
n.1486-742T=
c.947A= (p.Lys316=)
c.1049A= (p.Lys350=)
c.989A= (p.Lys330=)
n.4197-742T=
c.872A= (p.Lys291=)
c.890A= (p.Lys297=)
c.647A= (p.Lys216=)
c.680A= (p.Lys227=)
c.698A= (p.Lys233=)
2g.127427130A>CCA348402104PROCc.704A>C (p.Lys235Thr)
c.121-1227A>C
c.806A>C (p.Lys269Thr)
c.887A>C (p.Lys296Thr)
c.869A>C (p.Lys290Thr)
c.767A>C (p.Lys256Thr)
n.1486-742T>G
c.947A>C (p.Lys316Thr)
c.1049A>C (p.Lys350Thr)
c.989A>C (p.Lys330Thr)
n.4197-742T>G
c.872A>C (p.Lys291Thr)
c.890A>C (p.Lys297Thr)
c.647A>C (p.Lys216Thr)
c.680A>C (p.Lys227Thr)
c.698A>C (p.Lys233Thr)
2g.127427130A>GCA348402105PROCc.704A>G (p.Lys235Arg)
c.121-1227A>G
c.806A>G (p.Lys269Arg)
c.887A>G (p.Lys296Arg)
c.869A>G (p.Lys290Arg)
c.767A>G (p.Lys256Arg)
n.1486-742T>C
c.947A>G (p.Lys316Arg)
c.1049A>G (p.Lys350Arg)
c.989A>G (p.Lys330Arg)
n.4197-742T>C
c.872A>G (p.Lys291Arg)
c.890A>G (p.Lys297Arg)
c.647A>G (p.Lys216Arg)
c.680A>G (p.Lys227Arg)
c.698A>G (p.Lys233Arg)
2g.127427130A>TCA1859426PROCc.704A>T (p.Lys235Met)
c.121-1227A>T
c.806A>T (p.Lys269Met)
c.887A>T (p.Lys296Met)
c.869A>T (p.Lys290Met)
c.767A>T (p.Lys256Met)
n.1486-742T>A
c.947A>T (p.Lys316Met)
c.1049A>T (p.Lys350Met)
c.989A>T (p.Lys330Met)
n.4197-742T>A
c.872A>T (p.Lys291Met)
c.890A>T (p.Lys297Met)
c.647A>T (p.Lys216Met)
c.680A>T (p.Lys227Met)
c.698A>T (p.Lys233Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427131G>ACA428618519PROCc.705G>A (p.Lys235=)
c.121-1226G>A
c.807G>A (p.Lys269=)
c.888G>A (p.Lys296=)
c.870G>A (p.Lys290=)
c.768G>A (p.Lys256=)
n.1486-743C>T
c.948G>A (p.Lys316=)
c.1050G>A (p.Lys350=)
c.990G>A (p.Lys330=)
n.4197-743C>T
c.873G>A (p.Lys291=)
c.891G>A (p.Lys297=)
c.648G>A (p.Lys216=)
c.681G>A (p.Lys227=)
c.699G>A (p.Lys233=)
 gnomAD v4
2g.127427131G>CCA348402107PROCc.705G>C (p.Lys235Asn)
c.121-1226G>C
c.807G>C (p.Lys269Asn)
c.888G>C (p.Lys296Asn)
c.870G>C (p.Lys290Asn)
c.768G>C (p.Lys256Asn)
n.1486-743C>G
c.948G>C (p.Lys316Asn)
c.1050G>C (p.Lys350Asn)
c.990G>C (p.Lys330Asn)
n.4197-743C>G
c.873G>C (p.Lys291Asn)
c.891G>C (p.Lys297Asn)
c.648G>C (p.Lys216Asn)
c.681G>C (p.Lys227Asn)
c.699G>C (p.Lys233Asn)
2g.127427131G>TCA348402106PROCc.705G>T (p.Lys235Asn)
c.121-1226G>T
c.807G>T (p.Lys269Asn)
c.888G>T (p.Lys296Asn)
c.870G>T (p.Lys290Asn)
c.768G>T (p.Lys256Asn)
n.1486-743C>A
c.948G>T (p.Lys316Asn)
c.1050G>T (p.Lys350Asn)
c.990G>T (p.Lys330Asn)
n.4197-743C>A
c.873G>T (p.Lys291Asn)
c.891G>T (p.Lys297Asn)
c.648G>T (p.Lys216Asn)
c.681G>T (p.Lys227Asn)
c.699G>T (p.Lys233Asn)
2g.127427132C>ACA348402108PROCc.706C>A (p.Leu236Met)
c.121-1225C>A
c.808C>A (p.Leu270Met)
c.889C>A (p.Leu297Met)
c.871C>A (p.Leu291Met)
c.769C>A (p.Leu257Met)
n.1486-744G>T
c.949C>A (p.Leu317Met)
c.1051C>A (p.Leu351Met)
c.991C>A (p.Leu331Met)
n.4197-744G>T
c.874C>A (p.Leu292Met)
c.892C>A (p.Leu298Met)
c.649C>A (p.Leu217Met)
c.682C>A (p.Leu228Met)
c.700C>A (p.Leu234Met)
 gnomAD v4
2g.127427132C>GCA348402109PROCc.706C>G (p.Leu236Val)
c.121-1225C>G
c.808C>G (p.Leu270Val)
c.889C>G (p.Leu297Val)
c.871C>G (p.Leu291Val)
c.769C>G (p.Leu257Val)
n.1486-744G>C
c.949C>G (p.Leu317Val)
c.1051C>G (p.Leu351Val)
c.991C>G (p.Leu331Val)
n.4197-744G>C
c.874C>G (p.Leu292Val)
c.892C>G (p.Leu298Val)
c.649C>G (p.Leu217Val)
c.682C>G (p.Leu228Val)
c.700C>G (p.Leu234Val)
2g.127427132C>TCA428618522PROCc.706C>T (p.Leu236=)
c.121-1225C>T
c.808C>T (p.Leu270=)
c.889C>T (p.Leu297=)
c.871C>T (p.Leu291=)
c.769C>T (p.Leu257=)
n.1486-744G>A
c.949C>T (p.Leu317=)
c.1051C>T (p.Leu351=)
c.991C>T (p.Leu331=)
n.4197-744G>A
c.874C>T (p.Leu292=)
c.892C>T (p.Leu298=)
c.649C>T (p.Leu217=)
c.682C>T (p.Leu228=)
c.700C>T (p.Leu234=)
2g.127427133T>ACA348402112PROCc.707T>A (p.Leu236Gln)
c.121-1224T>A
c.809T>A (p.Leu270Gln)
c.890T>A (p.Leu297Gln)
c.872T>A (p.Leu291Gln)
c.770T>A (p.Leu257Gln)
n.1486-745A>T
c.950T>A (p.Leu317Gln)
c.1052T>A (p.Leu351Gln)
c.992T>A (p.Leu331Gln)
n.4197-745A>T
c.875T>A (p.Leu292Gln)
c.893T>A (p.Leu298Gln)
c.650T>A (p.Leu217Gln)
c.683T>A (p.Leu228Gln)
c.701T>A (p.Leu234Gln)
2g.127427133T>CCA1859427PROCc.707T>C (p.Leu236Pro)
c.121-1224T>C
c.809T>C (p.Leu270Pro)
c.890T>C (p.Leu297Pro)
c.872T>C (p.Leu291Pro)
c.770T>C (p.Leu257Pro)
n.1486-745A>G
c.950T>C (p.Leu317Pro)
c.1052T>C (p.Leu351Pro)
c.992T>C (p.Leu331Pro)
n.4197-745A>G
c.875T>C (p.Leu292Pro)
c.893T>C (p.Leu298Pro)
c.650T>C (p.Leu217Pro)
c.683T>C (p.Leu228Pro)
c.701T>C (p.Leu234Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427133T>GCA348402114PROCc.707T>G (p.Leu236Arg)
c.121-1224T>G
c.809T>G (p.Leu270Arg)
c.890T>G (p.Leu297Arg)
c.872T>G (p.Leu291Arg)
c.770T>G (p.Leu257Arg)
n.1486-745A>C
c.950T>G (p.Leu317Arg)
c.1052T>G (p.Leu351Arg)
c.992T>G (p.Leu331Arg)
n.4197-745A>C
c.875T>G (p.Leu292Arg)
c.893T>G (p.Leu298Arg)
c.650T>G (p.Leu217Arg)
c.683T>G (p.Leu228Arg)
c.701T>G (p.Leu234Arg)
2g.127427133T=CA1286883846PROCc.707T= (p.Leu236=)
c.121-1224T=
c.809T= (p.Leu270=)
c.890T= (p.Leu297=)
c.872T= (p.Leu291=)
c.770T= (p.Leu257=)
n.1486-745A=
c.950T= (p.Leu317=)
c.1052T= (p.Leu351=)
c.992T= (p.Leu331=)
n.4197-745A=
c.875T= (p.Leu292=)
c.893T= (p.Leu298=)
c.650T= (p.Leu217=)
c.683T= (p.Leu228=)
c.701T= (p.Leu234=)
2g.127427134G>ACA428618531PROCc.708G>A (p.Leu236=)
c.121-1223G>A
c.810G>A (p.Leu270=)
c.891G>A (p.Leu297=)
c.873G>A (p.Leu291=)
c.771G>A (p.Leu257=)
n.1486-746C>T
c.951G>A (p.Leu317=)
c.1053G>A (p.Leu351=)
c.993G>A (p.Leu331=)
n.4197-746C>T
c.876G>A (p.Leu292=)
c.894G>A (p.Leu298=)
c.651G>A (p.Leu217=)
c.684G>A (p.Leu228=)
c.702G>A (p.Leu234=)
2g.127427134G>CCA428618530PROCc.708G>C (p.Leu236=)
c.121-1223G>C
c.810G>C (p.Leu270=)
c.891G>C (p.Leu297=)
c.873G>C (p.Leu291=)
c.771G>C (p.Leu257=)
n.1486-746C>G
c.951G>C (p.Leu317=)
c.1053G>C (p.Leu351=)
c.993G>C (p.Leu331=)
n.4197-746C>G
c.876G>C (p.Leu292=)
c.894G>C (p.Leu298=)
c.651G>C (p.Leu217=)
c.684G>C (p.Leu228=)
c.702G>C (p.Leu234=)
2g.127427134G>TCA428618528PROCc.708G>T (p.Leu236=)
c.121-1223G>T
c.810G>T (p.Leu270=)
c.891G>T (p.Leu297=)
c.873G>T (p.Leu291=)
c.771G>T (p.Leu257=)
n.1486-746C>A
c.951G>T (p.Leu317=)
c.1053G>T (p.Leu351=)
c.993G>T (p.Leu331=)
n.4197-746C>A
c.876G>T (p.Leu292=)
c.894G>T (p.Leu298=)
c.651G>T (p.Leu217=)
c.684G>T (p.Leu228=)
c.702G>T (p.Leu234=)
 COSMIC COSMIC
2g.127427135G>ACA348402119PROCc.709G>A (p.Ala237Thr)
c.121-1222G>A
c.811G>A (p.Ala271Thr)
c.892G>A (p.Ala298Thr)
c.874G>A (p.Ala292Thr)
c.772G>A (p.Ala258Thr)
n.1486-747C>T
c.952G>A (p.Ala318Thr)
c.1054G>A (p.Ala352Thr)
c.994G>A (p.Ala332Thr)
n.4197-747C>T
c.877G>A (p.Ala293Thr)
c.895G>A (p.Ala299Thr)
c.652G>A (p.Ala218Thr)
c.685G>A (p.Ala229Thr)
c.703G>A (p.Ala235Thr)
2g.127427135G>CCA348402116PROCc.709G>C (p.Ala237Pro)
c.121-1222G>C
c.811G>C (p.Ala271Pro)
c.892G>C (p.Ala298Pro)
c.874G>C (p.Ala292Pro)
c.772G>C (p.Ala258Pro)
n.1486-747C>G
c.952G>C (p.Ala318Pro)
c.1054G>C (p.Ala352Pro)
c.994G>C (p.Ala332Pro)
n.4197-747C>G
c.877G>C (p.Ala293Pro)
c.895G>C (p.Ala299Pro)
c.652G>C (p.Ala218Pro)
c.685G>C (p.Ala229Pro)
c.703G>C (p.Ala235Pro)
2g.127427135G>TCA348402115PROCc.709G>T (p.Ala237Ser)
c.121-1222G>T
c.811G>T (p.Ala271Ser)
c.892G>T (p.Ala298Ser)
c.874G>T (p.Ala292Ser)
c.772G>T (p.Ala258Ser)
n.1486-747C>A
c.952G>T (p.Ala318Ser)
c.1054G>T (p.Ala352Ser)
c.994G>T (p.Ala332Ser)
n.4197-747C>A
c.877G>T (p.Ala293Ser)
c.895G>T (p.Ala299Ser)
c.652G>T (p.Ala218Ser)
c.685G>T (p.Ala229Ser)
c.703G>T (p.Ala235Ser)
2g.127427136C>ACA55349309PROCc.710C>A (p.Ala237Asp)
c.121-1221C>A
c.812C>A (p.Ala271Asp)
c.893C>A (p.Ala298Asp)
c.875C>A (p.Ala292Asp)
c.773C>A (p.Ala258Asp)
n.1486-748G>T
c.953C>A (p.Ala318Asp)
c.1055C>A (p.Ala352Asp)
c.995C>A (p.Ala332Asp)
n.4197-748G>T
c.878C>A (p.Ala293Asp)
c.896C>A (p.Ala299Asp)
c.653C>A (p.Ala218Asp)
c.686C>A (p.Ala229Asp)
c.704C>A (p.Ala235Asp)
 dbSNP
2g.127427136C=CA1286883847PROCc.710C= (p.Ala237=)
c.121-1221C=
c.812C= (p.Ala271=)
c.893C= (p.Ala298=)
c.875C= (p.Ala292=)
c.773C= (p.Ala258=)
n.1486-748G=
c.953C= (p.Ala318=)
c.1055C= (p.Ala352=)
c.995C= (p.Ala332=)
n.4197-748G=
c.878C= (p.Ala293=)
c.896C= (p.Ala299=)
c.653C= (p.Ala218=)
c.686C= (p.Ala229=)
c.704C= (p.Ala235=)
2g.127427136C>GCA348402123PROCc.710C>G (p.Ala237Gly)
c.121-1221C>G
c.812C>G (p.Ala271Gly)
c.893C>G (p.Ala298Gly)
c.875C>G (p.Ala292Gly)
c.773C>G (p.Ala258Gly)
n.1486-748G>C
c.953C>G (p.Ala318Gly)
c.1055C>G (p.Ala352Gly)
c.995C>G (p.Ala332Gly)
n.4197-748G>C
c.878C>G (p.Ala293Gly)
c.896C>G (p.Ala299Gly)
c.653C>G (p.Ala218Gly)
c.686C>G (p.Ala229Gly)
c.704C>G (p.Ala235Gly)
2g.127427136C>TCA348402125PROCc.710C>T (p.Ala237Val)
c.121-1221C>T
c.812C>T (p.Ala271Val)
c.893C>T (p.Ala298Val)
c.875C>T (p.Ala292Val)
c.773C>T (p.Ala258Val)
n.1486-748G>A
c.953C>T (p.Ala318Val)
c.1055C>T (p.Ala352Val)
c.995C>T (p.Ala332Val)
n.4197-748G>A
c.878C>T (p.Ala293Val)
c.896C>T (p.Ala299Val)
c.653C>T (p.Ala218Val)
c.686C>T (p.Ala229Val)
c.704C>T (p.Ala235Val)
 dbSNP gnomAD v4
2g.127427136_127427137delinsTTCA645516637PROCc.710_711delinsTT (p.Ala237Val)
c.121-1221_121-1220delinsTT
c.812_813delinsTT (p.Ala271Val)
c.893_894delinsTT (p.Ala298Val)
c.875_876delinsTT (p.Ala292Val)
c.773_774delinsTT (p.Ala258Val)
n.1486-749_1486-748delinsAA
c.953_954delinsTT (p.Ala318Val)
c.1055_1056delinsTT (p.Ala352Val)
c.995_996delinsTT (p.Ala332Val)
n.4197-749_4197-748delinsAA
c.878_879delinsTT (p.Ala293Val)
c.896_897delinsTT (p.Ala299Val)
c.653_654delinsTT (p.Ala218Val)
c.686_687delinsTT (p.Ala229Val)
c.704_705delinsTT (p.Ala235Val)
 COSMIC COSMIC
2g.127427137C>ACA428618534PROCc.711C>A (p.Ala237=)
c.121-1220C>A
c.813C>A (p.Ala271=)
c.894C>A (p.Ala298=)
c.876C>A (p.Ala292=)
c.774C>A (p.Ala258=)
n.1486-749G>T
c.954C>A (p.Ala318=)
c.1056C>A (p.Ala352=)
c.996C>A (p.Ala332=)
n.4197-749G>T
c.879C>A (p.Ala293=)
c.897C>A (p.Ala299=)
c.654C>A (p.Ala218=)
c.687C>A (p.Ala229=)
c.705C>A (p.Ala235=)
2g.127427137C>GCA428618536PROCc.711C>G (p.Ala237=)
c.121-1220C>G
c.813C>G (p.Ala271=)
c.894C>G (p.Ala298=)
c.876C>G (p.Ala292=)
c.774C>G (p.Ala258=)
n.1486-749G>C
c.954C>G (p.Ala318=)
c.1056C>G (p.Ala352=)
c.996C>G (p.Ala332=)
n.4197-749G>C
c.879C>G (p.Ala293=)
c.897C>G (p.Ala299=)
c.654C>G (p.Ala218=)
c.687C>G (p.Ala229=)
c.705C>G (p.Ala235=)
2g.127427137C>TCA428618535PROCc.711C>T (p.Ala237=)
c.121-1220C>T
c.813C>T (p.Ala271=)
c.894C>T (p.Ala298=)
c.876C>T (p.Ala292=)
c.774C>T (p.Ala258=)
n.1486-749G>A
c.954C>T (p.Ala318=)
c.1056C>T (p.Ala352=)
c.996C>T (p.Ala332=)
n.4197-749G>A
c.879C>T (p.Ala293=)
c.897C>T (p.Ala299=)
c.654C>T (p.Ala218=)
c.687C>T (p.Ala229=)
c.705C>T (p.Ala235=)
2g.127427137_127427147delinsCTGCGGGGCAGCA1286883848PROCc.711_721delinsCTGCGGGGCAG (p.Ala237=)
c.121-1220_121-1210delinsCTGCGGGGCAG
c.813_823delinsCTGCGGGGCAG (p.Ala271=)
c.894_904delinsCTGCGGGGCAG (p.Ala298=)
c.876_886delinsCTGCGGGGCAG (p.Ala292=)
c.774_784delinsCTGCGGGGCAG (p.Ala258=)
n.1486-759_1486-749delinsCTGCCCCGCAG
c.954_964delinsCTGCGGGGCAG (p.Ala318=)
c.1056_1066delinsCTGCGGGGCAG (p.Ala352=)
c.996_1006delinsCTGCGGGGCAG (p.Ala332=)
n.4197-759_4197-749delinsCTGCCCCGCAG
c.879_889delinsCTGCGGGGCAG (p.Ala293=)
c.897_907delinsCTGCGGGGCAG (p.Ala299=)
c.654_664delinsCTGCGGGGCAG (p.Ala218=)
c.687_697delinsCTGCGGGGCAG (p.Ala229=)
c.705_715delinsCTGCGGGGCAG (p.Ala235=)
2g.127427138T>ACA348402127PROCc.712T>A (p.Cys238Ser)
c.121-1219T>A
c.814T>A (p.Cys272Ser)
c.895T>A (p.Cys299Ser)
c.877T>A (p.Cys293Ser)
c.775T>A (p.Cys259Ser)
n.1486-750A>T
c.955T>A (p.Cys319Ser)
c.1057T>A (p.Cys353Ser)
c.997T>A (p.Cys333Ser)
n.4197-750A>T
c.880T>A (p.Cys294Ser)
c.898T>A (p.Cys300Ser)
c.655T>A (p.Cys219Ser)
c.688T>A (p.Cys230Ser)
c.706T>A (p.Cys236Ser)
2g.127427138T>CCA348402128PROCc.712T>C (p.Cys238Arg)
c.121-1219T>C
c.814T>C (p.Cys272Arg)
c.895T>C (p.Cys299Arg)
c.877T>C (p.Cys293Arg)
c.775T>C (p.Cys259Arg)
n.1486-750A>G
c.955T>C (p.Cys319Arg)
c.1057T>C (p.Cys353Arg)
c.997T>C (p.Cys333Arg)
n.4197-750A>G
c.880T>C (p.Cys294Arg)
c.898T>C (p.Cys300Arg)
c.655T>C (p.Cys219Arg)
c.688T>C (p.Cys230Arg)
c.706T>C (p.Cys236Arg)
 gnomAD v4
2g.127427138T>GCA348402130PROCc.712T>G (p.Cys238Gly)
c.121-1219T>G
c.814T>G (p.Cys272Gly)
c.895T>G (p.Cys299Gly)
c.877T>G (p.Cys293Gly)
c.775T>G (p.Cys259Gly)
n.1486-750A>C
c.955T>G (p.Cys319Gly)
c.1057T>G (p.Cys353Gly)
c.997T>G (p.Cys333Gly)
n.4197-750A>C
c.880T>G (p.Cys294Gly)
c.898T>G (p.Cys300Gly)
c.655T>G (p.Cys219Gly)
c.688T>G (p.Cys230Gly)
c.706T>G (p.Cys236Gly)
2g.127427141_127427150delCA535640182PROCc.715_724del (p.Gly239SerfsTer8)
c.121-1216_121-1207del
c.817_826del (p.Gly273SerfsTer8)
c.898_907del (p.Gly300SerfsTer8)
c.880_889del (p.Gly294SerfsTer8)
c.778_787del (p.Gly260SerfsTer8)
n.1486-759_1486-750del
c.958_967del (p.Gly320SerfsTer8)
c.1060_1069del (p.Gly354SerfsTer8)
c.1000_1009del (p.Gly334SerfsTer8)
n.4197-759_4197-750del
c.883_892del (p.Gly295SerfsTer8)
c.901_910del (p.Gly301SerfsTer8)
c.658_667del (p.Gly220SerfsTer8)
c.691_700del (p.Gly231SerfsTer8)
c.709_718del (p.Gly237SerfsTer8)
 dbSNP gnomAD v2 gnomAD v4
2g.127427139G>ACA348402131PROCc.713G>A (p.Cys238Tyr)
c.121-1218G>A
c.815G>A (p.Cys272Tyr)
c.896G>A (p.Cys299Tyr)
c.878G>A (p.Cys293Tyr)
c.776G>A (p.Cys259Tyr)
n.1486-751C>T
c.956G>A (p.Cys319Tyr)
c.1058G>A (p.Cys353Tyr)
c.998G>A (p.Cys333Tyr)
n.4197-751C>T
c.881G>A (p.Cys294Tyr)
c.899G>A (p.Cys300Tyr)
c.656G>A (p.Cys219Tyr)
c.689G>A (p.Cys230Tyr)
c.707G>A (p.Cys236Tyr)
 COSMIC COSMIC
2g.127427139G>CCA1859428PROCc.713G>C (p.Cys238Ser)
c.121-1218G>C
c.815G>C (p.Cys272Ser)
c.896G>C (p.Cys299Ser)
c.878G>C (p.Cys293Ser)
c.776G>C (p.Cys259Ser)
n.1486-751C>G
c.956G>C (p.Cys319Ser)
c.1058G>C (p.Cys353Ser)
c.998G>C (p.Cys333Ser)
n.4197-751C>G
c.881G>C (p.Cys294Ser)
c.899G>C (p.Cys300Ser)
c.656G>C (p.Cys219Ser)
c.689G>C (p.Cys230Ser)
c.707G>C (p.Cys236Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427139G=CA1286883849PROCc.713G= (p.Cys238=)
c.121-1218G=
c.815G= (p.Cys272=)
c.896G= (p.Cys299=)
c.878G= (p.Cys293=)
c.776G= (p.Cys259=)
n.1486-751C=
c.956G= (p.Cys319=)
c.1058G= (p.Cys353=)
c.998G= (p.Cys333=)
n.4197-751C=
c.881G= (p.Cys294=)
c.899G= (p.Cys300=)
c.656G= (p.Cys219=)
c.689G= (p.Cys230=)
c.707G= (p.Cys236=)
2g.127427139G>TCA348402132PROCc.713G>T (p.Cys238Phe)
c.121-1218G>T
c.815G>T (p.Cys272Phe)
c.896G>T (p.Cys299Phe)
c.878G>T (p.Cys293Phe)
c.776G>T (p.Cys259Phe)
n.1486-751C>A
c.956G>T (p.Cys319Phe)
c.1058G>T (p.Cys353Phe)
c.998G>T (p.Cys333Phe)
n.4197-751C>A
c.881G>T (p.Cys294Phe)
c.899G>T (p.Cys300Phe)
c.656G>T (p.Cys219Phe)
c.689G>T (p.Cys230Phe)
c.707G>T (p.Cys236Phe)
2g.127427140C>ACA348402134PROCc.714C>A (p.Cys238Ter)
c.121-1217C>A
c.816C>A (p.Cys272Ter)
c.897C>A (p.Cys299Ter)
c.879C>A (p.Cys293Ter)
c.777C>A (p.Cys259Ter)
n.1486-752G>T
c.957C>A (p.Cys319Ter)
c.1059C>A (p.Cys353Ter)
c.999C>A (p.Cys333Ter)
n.4197-752G>T
c.882C>A (p.Cys294Ter)
c.900C>A (p.Cys300Ter)
c.657C>A (p.Cys219Ter)
c.690C>A (p.Cys230Ter)
c.708C>A (p.Cys236Ter)
2g.127427140C=CA1286883850PROCc.714C= (p.Cys238=)
c.121-1217C=
c.816C= (p.Cys272=)
c.897C= (p.Cys299=)
c.879C= (p.Cys293=)
c.777C= (p.Cys259=)
n.1486-752G=
c.957C= (p.Cys319=)
c.1059C= (p.Cys353=)
c.999C= (p.Cys333=)
n.4197-752G=
c.882C= (p.Cys294=)
c.900C= (p.Cys300=)
c.657C= (p.Cys219=)
c.690C= (p.Cys230=)
c.708C= (p.Cys236=)
2g.127427140C>GCA348402135PROCc.714C>G (p.Cys238Trp)
c.121-1217C>G
c.816C>G (p.Cys272Trp)
c.897C>G (p.Cys299Trp)
c.879C>G (p.Cys293Trp)
c.777C>G (p.Cys259Trp)
n.1486-752G>C
c.957C>G (p.Cys319Trp)
c.1059C>G (p.Cys353Trp)
c.999C>G (p.Cys333Trp)
n.4197-752G>C
c.882C>G (p.Cys294Trp)
c.900C>G (p.Cys300Trp)
c.657C>G (p.Cys219Trp)
c.690C>G (p.Cys230Trp)
c.708C>G (p.Cys236Trp)
2g.127427140C>TCA1859429PROCc.714C>T (p.Cys238=)
c.121-1217C>T
c.816C>T (p.Cys272=)
c.897C>T (p.Cys299=)
c.879C>T (p.Cys293=)
c.777C>T (p.Cys259=)
n.1486-752G>A
c.957C>T (p.Cys319=)
c.1059C>T (p.Cys353=)
c.999C>T (p.Cys333=)
n.4197-752G>A
c.882C>T (p.Cys294=)
c.900C>T (p.Cys300=)
c.657C>T (p.Cys219=)
c.690C>T (p.Cys230=)
c.708C>T (p.Cys236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127427141G>ACA1859430PROCc.715G>A (p.Gly239Arg)
c.121-1216G>A
c.817G>A (p.Gly273Arg)
c.898G>A (p.Gly300Arg)
c.880G>A (p.Gly294Arg)
c.778G>A (p.Gly260Arg)
n.1486-753C>T
c.958G>A (p.Gly320Arg)
c.1060G>A (p.Gly354Arg)
c.1000G>A (p.Gly334Arg)
n.4197-753C>T
c.883G>A (p.Gly295Arg)
c.901G>A (p.Gly301Arg)
c.658G>A (p.Gly220Arg)
c.691G>A (p.Gly231Arg)
c.709G>A (p.Gly237Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.127427141G>CCA348402140PROCc.715G>C (p.Gly239Arg)
c.121-1216G>C
c.817G>C (p.Gly273Arg)
c.898G>C (p.Gly300Arg)
c.880G>C (p.Gly294Arg)
c.778G>C (p.Gly260Arg)
n.1486-753C>G
c.958G>C (p.Gly320Arg)
c.1060G>C (p.Gly354Arg)
c.1000G>C (p.Gly334Arg)
n.4197-753C>G
c.883G>C (p.Gly295Arg)
c.901G>C (p.Gly301Arg)
c.658G>C (p.Gly220Arg)
c.691G>C (p.Gly231Arg)
c.709G>C (p.Gly237Arg)
2g.127427141G=CA1286883851PROCc.715G= (p.Gly239=)
c.121-1216G=
c.817G= (p.Gly273=)
c.898G= (p.Gly300=)
c.880G= (p.Gly294=)
c.778G= (p.Gly260=)
n.1486-753C=
c.958G= (p.Gly320=)
c.1060G= (p.Gly354=)
c.1000G= (p.Gly334=)
n.4197-753C=
c.883G= (p.Gly295=)
c.901G= (p.Gly301=)
c.658G= (p.Gly220=)
c.691G= (p.Gly231=)
c.709G= (p.Gly237=)
2g.127427141G>TCA348402143PROCc.715G>T (p.Gly239Trp)
c.121-1216G>T
c.817G>T (p.Gly273Trp)
c.898G>T (p.Gly300Trp)
c.880G>T (p.Gly294Trp)
c.778G>T (p.Gly260Trp)
n.1486-753C>A
c.958G>T (p.Gly320Trp)
c.1060G>T (p.Gly354Trp)
c.1000G>T (p.Gly334Trp)
n.4197-753C>A
c.883G>T (p.Gly295Trp)
c.901G>T (p.Gly301Trp)
c.658G>T (p.Gly220Trp)
c.691G>T (p.Gly231Trp)
c.709G>T (p.Gly237Trp)
2g.127427144dupCA55349330PROCc.718dup (p.Ala240GlyfsTer18)
c.121-1213dup
c.820dup (p.Ala274GlyfsTer18)
c.901dup (p.Ala301GlyfsTer18)
c.883dup (p.Ala295GlyfsTer18)
c.781dup (p.Ala261GlyfsTer18)
n.1486-753dup
c.961dup (p.Ala321GlyfsTer18)
c.1063dup (p.Ala355GlyfsTer18)
c.1003dup (p.Ala335GlyfsTer18)
n.4197-753dup
c.886dup (p.Ala296GlyfsTer18)
c.904dup (p.Ala302GlyfsTer18)
c.661dup (p.Ala221GlyfsTer18)
c.694dup (p.Ala232GlyfsTer18)
c.712dup (p.Ala238GlyfsTer18)
 dbSNP
2g.127427144delCA2586969901PROCc.718del (p.Ala240GlnfsTer10)
c.121-1213del
c.820del (p.Ala274GlnfsTer10)
c.901del (p.Ala301GlnfsTer10)
c.883del (p.Ala295GlnfsTer10)
c.781del (p.Ala261GlnfsTer10)
n.1486-753del
c.961del (p.Ala321GlnfsTer10)
c.1063del (p.Ala355GlnfsTer10)
c.1003del (p.Ala335GlnfsTer10)
n.4197-753del
c.886del (p.Ala296GlnfsTer10)
c.904del (p.Ala302GlnfsTer10)
c.661del (p.Ala221GlnfsTer10)
c.694del (p.Ala232GlnfsTer10)
c.712del (p.Ala238GlnfsTer10)
2g.127427142G>ACA1859431PROCc.716G>A (p.Gly239Glu)
c.121-1215G>A
c.818G>A (p.Gly273Glu)
c.899G>A (p.Gly300Glu)
c.881G>A (p.Gly294Glu)
c.779G>A (p.Gly260Glu)
n.1486-754C>T
c.959G>A (p.Gly320Glu)
c.1061G>A (p.Gly354Glu)
c.1001G>A (p.Gly334Glu)
n.4197-754C>T
c.884G>A (p.Gly295Glu)
c.902G>A (p.Gly301Glu)
c.659G>A (p.Gly220Glu)
c.692G>A (p.Gly231Glu)
c.710G>A (p.Gly237Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427142G>CCA348402148PROCc.716G>C (p.Gly239Ala)
c.121-1215G>C
c.818G>C (p.Gly273Ala)
c.899G>C (p.Gly300Ala)
c.881G>C (p.Gly294Ala)
c.779G>C (p.Gly260Ala)
n.1486-754C>G
c.959G>C (p.Gly320Ala)
c.1061G>C (p.Gly354Ala)
c.1001G>C (p.Gly334Ala)
n.4197-754C>G
c.884G>C (p.Gly295Ala)
c.902G>C (p.Gly301Ala)
c.659G>C (p.Gly220Ala)
c.692G>C (p.Gly231Ala)
c.710G>C (p.Gly237Ala)
2g.127427142G=CA1286883852PROCc.716G= (p.Gly239=)
c.121-1215G=
c.818G= (p.Gly273=)
c.899G= (p.Gly300=)
c.881G= (p.Gly294=)
c.779G= (p.Gly260=)
n.1486-754C=
c.959G= (p.Gly320=)
c.1061G= (p.Gly354=)
c.1001G= (p.Gly334=)
n.4197-754C=
c.884G= (p.Gly295=)
c.902G= (p.Gly301=)
c.659G= (p.Gly220=)
c.692G= (p.Gly231=)
c.710G= (p.Gly237=)
2g.127427142G>TCA348402151PROCc.716G>T (p.Gly239Val)
c.121-1215G>T
c.818G>T (p.Gly273Val)
c.899G>T (p.Gly300Val)
c.881G>T (p.Gly294Val)
c.779G>T (p.Gly260Val)
n.1486-754C>A
c.959G>T (p.Gly320Val)
c.1061G>T (p.Gly354Val)
c.1001G>T (p.Gly334Val)
n.4197-754C>A
c.884G>T (p.Gly295Val)
c.902G>T (p.Gly301Val)
c.659G>T (p.Gly220Val)
c.692G>T (p.Gly231Val)
c.710G>T (p.Gly237Val)
2g.127427143G>ACA428618544PROCc.717G>A (p.Gly239=)
c.121-1214G>A
c.819G>A (p.Gly273=)
c.900G>A (p.Gly300=)
c.882G>A (p.Gly294=)
c.780G>A (p.Gly260=)
n.1486-755C>T
c.960G>A (p.Gly320=)
c.1062G>A (p.Gly354=)
c.1002G>A (p.Gly334=)
n.4197-755C>T
c.885G>A (p.Gly295=)
c.903G>A (p.Gly301=)
c.660G>A (p.Gly220=)
c.693G>A (p.Gly231=)
c.711G>A (p.Gly237=)
 gnomAD v4
2g.127427143G>CCA428618546PROCc.717G>C (p.Gly239=)
c.121-1214G>C
c.819G>C (p.Gly273=)
c.900G>C (p.Gly300=)
c.882G>C (p.Gly294=)
c.780G>C (p.Gly260=)
n.1486-755C>G
c.960G>C (p.Gly320=)
c.1062G>C (p.Gly354=)
c.1002G>C (p.Gly334=)
n.4197-755C>G
c.885G>C (p.Gly295=)
c.903G>C (p.Gly301=)
c.660G>C (p.Gly220=)
c.693G>C (p.Gly231=)
c.711G>C (p.Gly237=)
2g.127427143G>TCA428618547PROCc.717G>T (p.Gly239=)
c.121-1214G>T
c.819G>T (p.Gly273=)
c.900G>T (p.Gly300=)
c.882G>T (p.Gly294=)
c.780G>T (p.Gly260=)
n.1486-755C>A
c.960G>T (p.Gly320=)
c.1062G>T (p.Gly354=)
c.1002G>T (p.Gly334=)
n.4197-755C>A
c.885G>T (p.Gly295=)
c.903G>T (p.Gly301=)
c.660G>T (p.Gly220=)
c.693G>T (p.Gly231=)
c.711G>T (p.Gly237=)
2g.127427144G>ACA348402153PROCc.718G>A (p.Ala240Thr)
c.121-1213G>A
c.820G>A (p.Ala274Thr)
c.901G>A (p.Ala301Thr)
c.883G>A (p.Ala295Thr)
c.781G>A (p.Ala261Thr)
n.1486-756C>T
c.961G>A (p.Ala321Thr)
c.1063G>A (p.Ala355Thr)
c.1003G>A (p.Ala335Thr)
n.4197-756C>T
c.886G>A (p.Ala296Thr)
c.904G>A (p.Ala302Thr)
c.661G>A (p.Ala221Thr)
c.694G>A (p.Ala232Thr)
c.712G>A (p.Ala238Thr)
 ClinVar dbSNP
2g.127427144G>CCA348402155PROCc.718G>C (p.Ala240Pro)
c.121-1213G>C
c.820G>C (p.Ala274Pro)
c.901G>C (p.Ala301Pro)
c.883G>C (p.Ala295Pro)
c.781G>C (p.Ala261Pro)
n.1486-756C>G
c.961G>C (p.Ala321Pro)
c.1063G>C (p.Ala355Pro)
c.1003G>C (p.Ala335Pro)
n.4197-756C>G
c.886G>C (p.Ala296Pro)
c.904G>C (p.Ala302Pro)
c.661G>C (p.Ala221Pro)
c.694G>C (p.Ala232Pro)
c.712G>C (p.Ala238Pro)
2g.127427144G>TCA348402158PROCc.718G>T (p.Ala240Ser)
c.121-1213G>T
c.820G>T (p.Ala274Ser)
c.901G>T (p.Ala301Ser)
c.883G>T (p.Ala295Ser)
c.781G>T (p.Ala261Ser)
n.1486-756C>A
c.961G>T (p.Ala321Ser)
c.1063G>T (p.Ala355Ser)
c.1003G>T (p.Ala335Ser)
n.4197-756C>A
c.886G>T (p.Ala296Ser)
c.904G>T (p.Ala302Ser)
c.661G>T (p.Ala221Ser)
c.694G>T (p.Ala232Ser)
c.712G>T (p.Ala238Ser)
2g.127427145C>ACA348402165PROCc.719C>A (p.Ala240Glu)
c.121-1212C>A
c.821C>A (p.Ala274Glu)
c.902C>A (p.Ala301Glu)
c.884C>A (p.Ala295Glu)
c.782C>A (p.Ala261Glu)
n.1486-757G>T
c.962C>A (p.Ala321Glu)
c.1064C>A (p.Ala355Glu)
c.1004C>A (p.Ala335Glu)
n.4197-757G>T
c.887C>A (p.Ala296Glu)
c.905C>A (p.Ala302Glu)
c.662C>A (p.Ala221Glu)
c.695C>A (p.Ala232Glu)
c.713C>A (p.Ala238Glu)
2g.127427145C>GCA348402162PROCc.719C>G (p.Ala240Gly)
c.121-1212C>G
c.821C>G (p.Ala274Gly)
c.902C>G (p.Ala301Gly)
c.884C>G (p.Ala295Gly)
c.782C>G (p.Ala261Gly)
n.1486-757G>C
c.962C>G (p.Ala321Gly)
c.1064C>G (p.Ala355Gly)
c.1004C>G (p.Ala335Gly)
n.4197-757G>C
c.887C>G (p.Ala296Gly)
c.905C>G (p.Ala302Gly)
c.662C>G (p.Ala221Gly)
c.695C>G (p.Ala232Gly)
c.713C>G (p.Ala238Gly)
2g.127427145C>TCA348402160PROCc.719C>T (p.Ala240Val)
c.121-1212C>T
c.821C>T (p.Ala274Val)
c.902C>T (p.Ala301Val)
c.884C>T (p.Ala295Val)
c.782C>T (p.Ala261Val)
n.1486-757G>A
c.962C>T (p.Ala321Val)
c.1064C>T (p.Ala355Val)
c.1004C>T (p.Ala335Val)
n.4197-757G>A
c.887C>T (p.Ala296Val)
c.905C>T (p.Ala302Val)
c.662C>T (p.Ala221Val)
c.695C>T (p.Ala232Val)
c.713C>T (p.Ala238Val)
2g.127427146A>CCA428618552PROCc.720A>C (p.Ala240=)
c.121-1211A>C
c.822A>C (p.Ala274=)
c.903A>C (p.Ala301=)
c.885A>C (p.Ala295=)
c.783A>C (p.Ala261=)
n.1486-758T>G
c.963A>C (p.Ala321=)
c.1065A>C (p.Ala355=)
c.1005A>C (p.Ala335=)
n.4197-758T>G
c.888A>C (p.Ala296=)
c.906A>C (p.Ala302=)
c.663A>C (p.Ala221=)
c.696A>C (p.Ala232=)
c.714A>C (p.Ala238=)
2g.127427146A>GCA428618553PROCc.720A>G (p.Ala240=)
c.121-1211A>G
c.822A>G (p.Ala274=)
c.903A>G (p.Ala301=)
c.885A>G (p.Ala295=)
c.783A>G (p.Ala261=)
n.1486-758T>C
c.963A>G (p.Ala321=)
c.1065A>G (p.Ala355=)
c.1005A>G (p.Ala335=)
n.4197-758T>C
c.888A>G (p.Ala296=)
c.906A>G (p.Ala302=)
c.663A>G (p.Ala221=)
c.696A>G (p.Ala232=)
c.714A>G (p.Ala238=)
 gnomAD v4
2g.127427146A>TCA428618556PROCc.720A>T (p.Ala240=)
c.121-1211A>T
c.822A>T (p.Ala274=)
c.903A>T (p.Ala301=)
c.885A>T (p.Ala295=)
c.783A>T (p.Ala261=)
n.1486-758T>A
c.963A>T (p.Ala321=)
c.1065A>T (p.Ala355=)
c.1005A>T (p.Ala335=)
n.4197-758T>A
c.888A>T (p.Ala296=)
c.906A>T (p.Ala302=)
c.663A>T (p.Ala221=)
c.696A>T (p.Ala232=)
c.714A>T (p.Ala238=)
2g.127427147G>ACA348402171PROCc.721G>A (p.Val241Met)
c.121-1210G>A
c.823G>A (p.Val275Met)
c.904G>A (p.Val302Met)
c.886G>A (p.Val296Met)
c.784G>A (p.Val262Met)
n.1486-759C>T
c.964G>A (p.Val322Met)
c.1066G>A (p.Val356Met)
c.1006G>A (p.Val336Met)
n.4197-759C>T
c.889G>A (p.Val297Met)
c.907G>A (p.Val303Met)
c.664G>A (p.Val222Met)
c.697G>A (p.Val233Met)
c.715G>A (p.Val239Met)
2g.127427147G>CCA348402168PROCc.721G>C (p.Val241Leu)
c.121-1210G>C
c.823G>C (p.Val275Leu)
c.904G>C (p.Val302Leu)
c.886G>C (p.Val296Leu)
c.784G>C (p.Val262Leu)
n.1486-759C>G
c.964G>C (p.Val322Leu)
c.1066G>C (p.Val356Leu)
c.1006G>C (p.Val336Leu)
n.4197-759C>G
c.889G>C (p.Val297Leu)
c.907G>C (p.Val303Leu)
c.664G>C (p.Val222Leu)
c.697G>C (p.Val233Leu)
c.715G>C (p.Val239Leu)
2g.127427147G>TCA348402173PROCc.721G>T (p.Val241Leu)
c.121-1210G>T
c.823G>T (p.Val275Leu)
c.904G>T (p.Val302Leu)
c.886G>T (p.Val296Leu)
c.784G>T (p.Val262Leu)
n.1486-759C>A
c.964G>T (p.Val322Leu)
c.1066G>T (p.Val356Leu)
c.1006G>T (p.Val336Leu)
n.4197-759C>A
c.889G>T (p.Val297Leu)
c.907G>T (p.Val303Leu)
c.664G>T (p.Val222Leu)
c.697G>T (p.Val233Leu)
c.715G>T (p.Val239Leu)
2g.127427148T>ACA348402178PROCc.722T>A (p.Val241Glu)
c.121-1209T>A
c.824T>A (p.Val275Glu)
c.905T>A (p.Val302Glu)
c.887T>A (p.Val296Glu)
c.785T>A (p.Val262Glu)
n.1486-760A>T
c.965T>A (p.Val322Glu)
c.1067T>A (p.Val356Glu)
c.1007T>A (p.Val336Glu)
n.4197-760A>T
c.890T>A (p.Val297Glu)
c.908T>A (p.Val303Glu)
c.665T>A (p.Val222Glu)
c.698T>A (p.Val233Glu)
c.716T>A (p.Val239Glu)
2g.127427148T>CCA348402179PROCc.722T>C (p.Val241Ala)
c.121-1209T>C
c.824T>C (p.Val275Ala)
c.905T>C (p.Val302Ala)
c.887T>C (p.Val296Ala)
c.785T>C (p.Val262Ala)
n.1486-760A>G
c.965T>C (p.Val322Ala)
c.1067T>C (p.Val356Ala)
c.1007T>C (p.Val336Ala)
n.4197-760A>G
c.890T>C (p.Val297Ala)
c.908T>C (p.Val303Ala)
c.665T>C (p.Val222Ala)
c.698T>C (p.Val233Ala)
c.716T>C (p.Val239Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.127427148T>GCA348402182PROCc.722T>G (p.Val241Gly)
c.121-1209T>G
c.824T>G (p.Val275Gly)
c.905T>G (p.Val302Gly)
c.887T>G (p.Val296Gly)
c.785T>G (p.Val262Gly)
n.1486-760A>C
c.965T>G (p.Val322Gly)
c.1067T>G (p.Val356Gly)
c.1007T>G (p.Val336Gly)
n.4197-760A>C
c.890T>G (p.Val297Gly)
c.908T>G (p.Val303Gly)
c.665T>G (p.Val222Gly)
c.698T>G (p.Val233Gly)
c.716T>G (p.Val239Gly)
2g.127427148T=CA1286883853PROCc.722T= (p.Val241=)
c.121-1209T=
c.824T= (p.Val275=)
c.905T= (p.Val302=)
c.887T= (p.Val296=)
c.785T= (p.Val262=)
n.1486-760A=
c.965T= (p.Val322=)
c.1067T= (p.Val356=)
c.1007T= (p.Val336=)
n.4197-760A=
c.890T= (p.Val297=)
c.908T= (p.Val303=)
c.665T= (p.Val222=)
c.698T= (p.Val233=)
c.716T= (p.Val239=)
2g.127427149G>ACA428618559PROCc.723G>A (p.Val241=)
c.121-1208G>A
c.825G>A (p.Val275=)
c.906G>A (p.Val302=)
c.888G>A (p.Val296=)
c.786G>A (p.Val262=)
n.1486-761C>T
c.966G>A (p.Val322=)
c.1068G>A (p.Val356=)
c.1008G>A (p.Val336=)
n.4197-761C>T
c.891G>A (p.Val297=)
c.909G>A (p.Val303=)
c.666G>A (p.Val222=)
c.699G>A (p.Val233=)
c.717G>A (p.Val239=)
2g.127427149G>CCA428618561PROCc.723G>C (p.Val241=)
c.121-1208G>C
c.825G>C (p.Val275=)
c.906G>C (p.Val302=)
c.888G>C (p.Val296=)
c.786G>C (p.Val262=)
n.1486-761C>G
c.966G>C (p.Val322=)
c.1068G>C (p.Val356=)
c.1008G>C (p.Val336=)
n.4197-761C>G
c.891G>C (p.Val297=)
c.909G>C (p.Val303=)
c.666G>C (p.Val222=)
c.699G>C (p.Val233=)
c.717G>C (p.Val239=)
2g.127427149G=CA1286883854PROCc.723G= (p.Val241=)
c.121-1208G=
c.825G= (p.Val275=)
c.906G= (p.Val302=)
c.888G= (p.Val296=)
c.786G= (p.Val262=)
n.1486-761C=
c.966G= (p.Val322=)
c.1068G= (p.Val356=)
c.1008G= (p.Val336=)
n.4197-761C=
c.891G= (p.Val297=)
c.909G= (p.Val303=)
c.666G= (p.Val222=)
c.699G= (p.Val233=)
c.717G= (p.Val239=)
2g.127427149G>TCA1859432PROCc.723G>T (p.Val241=)
c.121-1208G>T
c.825G>T (p.Val275=)
c.906G>T (p.Val302=)
c.888G>T (p.Val296=)
c.786G>T (p.Val262=)
n.1486-761C>A
c.966G>T (p.Val322=)
c.1068G>T (p.Val356=)
c.1008G>T (p.Val336=)
n.4197-761C>A
c.891G>T (p.Val297=)
c.909G>T (p.Val303=)
c.666G>T (p.Val222=)
c.699G>T (p.Val233=)
c.717G>T (p.Val239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427150C>ACA348402186PROCc.724C>A (p.Leu242Ile)
c.121-1207C>A
c.826C>A (p.Leu276Ile)
c.907C>A (p.Leu303Ile)
c.889C>A (p.Leu297Ile)
c.787C>A (p.Leu263Ile)
n.1486-762G>T
c.967C>A (p.Leu323Ile)
c.1069C>A (p.Leu357Ile)
c.1009C>A (p.Leu337Ile)
n.4197-762G>T
c.892C>A (p.Leu298Ile)
c.910C>A (p.Leu304Ile)
c.667C>A (p.Leu223Ile)
c.700C>A (p.Leu234Ile)
c.718C>A (p.Leu240Ile)
2g.127427150C>GCA348402188PROCc.724C>G (p.Leu242Val)
c.121-1207C>G
c.826C>G (p.Leu276Val)
c.907C>G (p.Leu303Val)
c.889C>G (p.Leu297Val)
c.787C>G (p.Leu263Val)
n.1486-762G>C
c.967C>G (p.Leu323Val)
c.1069C>G (p.Leu357Val)
c.1009C>G (p.Leu337Val)
n.4197-762G>C
c.892C>G (p.Leu298Val)
c.910C>G (p.Leu304Val)
c.667C>G (p.Leu223Val)
c.700C>G (p.Leu234Val)
c.718C>G (p.Leu240Val)
2g.127427150C>TCA348402191PROCc.724C>T (p.Leu242Phe)
c.121-1207C>T
c.826C>T (p.Leu276Phe)
c.907C>T (p.Leu303Phe)
c.889C>T (p.Leu297Phe)
c.787C>T (p.Leu263Phe)
n.1486-762G>A
c.967C>T (p.Leu323Phe)
c.1069C>T (p.Leu357Phe)
c.1009C>T (p.Leu337Phe)
n.4197-762G>A
c.892C>T (p.Leu298Phe)
c.910C>T (p.Leu304Phe)
c.667C>T (p.Leu223Phe)
c.700C>T (p.Leu234Phe)
c.718C>T (p.Leu240Phe)
2g.127427151T>ACA348402195PROCc.725T>A (p.Leu242His)
c.121-1206T>A
c.827T>A (p.Leu276His)
c.908T>A (p.Leu303His)
c.890T>A (p.Leu297His)
c.788T>A (p.Leu263His)
n.1486-763A>T
c.968T>A (p.Leu323His)
c.1070T>A (p.Leu357His)
c.1010T>A (p.Leu337His)
n.4197-763A>T
c.893T>A (p.Leu298His)
c.911T>A (p.Leu304His)
c.668T>A (p.Leu223His)
c.701T>A (p.Leu234His)
c.719T>A (p.Leu240His)
2g.127427151T>CCA348402197PROCc.725T>C (p.Leu242Pro)
c.121-1206T>C
c.827T>C (p.Leu276Pro)
c.908T>C (p.Leu303Pro)
c.890T>C (p.Leu297Pro)
c.788T>C (p.Leu263Pro)
n.1486-763A>G
c.968T>C (p.Leu323Pro)
c.1070T>C (p.Leu357Pro)
c.1010T>C (p.Leu337Pro)
n.4197-763A>G
c.893T>C (p.Leu298Pro)
c.911T>C (p.Leu304Pro)
c.668T>C (p.Leu223Pro)
c.701T>C (p.Leu234Pro)
c.719T>C (p.Leu240Pro)
2g.127427151T>GCA348402199PROCc.725T>G (p.Leu242Arg)
c.121-1206T>G
c.827T>G (p.Leu276Arg)
c.908T>G (p.Leu303Arg)
c.890T>G (p.Leu297Arg)
c.788T>G (p.Leu263Arg)
n.1486-763A>C
c.968T>G (p.Leu323Arg)
c.1070T>G (p.Leu357Arg)
c.1010T>G (p.Leu337Arg)
n.4197-763A>C
c.893T>G (p.Leu298Arg)
c.911T>G (p.Leu304Arg)
c.668T>G (p.Leu223Arg)
c.701T>G (p.Leu234Arg)
c.719T>G (p.Leu240Arg)
2g.127427152C>ACA428618567PROCc.726C>A (p.Leu242=)
c.121-1205C>A
c.828C>A (p.Leu276=)
c.909C>A (p.Leu303=)
c.891C>A (p.Leu297=)
c.789C>A (p.Leu263=)
n.1486-764G>T
c.969C>A (p.Leu323=)
c.1071C>A (p.Leu357=)
c.1011C>A (p.Leu337=)
n.4197-764G>T
c.894C>A (p.Leu298=)
c.912C>A (p.Leu304=)
c.669C>A (p.Leu223=)
c.702C>A (p.Leu234=)
c.720C>A (p.Leu240=)
2g.127427152C=CA1286883855PROCc.726C= (p.Leu242=)
c.121-1205C=
c.828C= (p.Leu276=)
c.909C= (p.Leu303=)
c.891C= (p.Leu297=)
c.789C= (p.Leu263=)
n.1486-764G=
c.969C= (p.Leu323=)
c.1071C= (p.Leu357=)
c.1011C= (p.Leu337=)
n.4197-764G=
c.894C= (p.Leu298=)
c.912C= (p.Leu304=)
c.669C= (p.Leu223=)
c.702C= (p.Leu234=)
c.720C= (p.Leu240=)
2g.127427152C>GCA428618569PROCc.726C>G (p.Leu242=)
c.121-1205C>G
c.828C>G (p.Leu276=)
c.909C>G (p.Leu303=)
c.891C>G (p.Leu297=)
c.789C>G (p.Leu263=)
n.1486-764G>C
c.969C>G (p.Leu323=)
c.1071C>G (p.Leu357=)
c.1011C>G (p.Leu337=)
n.4197-764G>C
c.894C>G (p.Leu298=)
c.912C>G (p.Leu304=)
c.669C>G (p.Leu223=)
c.702C>G (p.Leu234=)
c.720C>G (p.Leu240=)
2g.127427152C>TCA55349339PROCc.726C>T (p.Leu242=)
c.121-1205C>T
c.828C>T (p.Leu276=)
c.909C>T (p.Leu303=)
c.891C>T (p.Leu297=)
c.789C>T (p.Leu263=)
n.1486-764G>A
c.969C>T (p.Leu323=)
c.1071C>T (p.Leu357=)
c.1011C>T (p.Leu337=)
n.4197-764G>A
c.894C>T (p.Leu298=)
c.912C>T (p.Leu304=)
c.669C>T (p.Leu223=)
c.702C>T (p.Leu234=)
c.720C>T (p.Leu240=)
 dbSNP gnomAD v4
2g.127427153A>CCA348402202PROCc.727A>C (p.Ile243Leu)
c.121-1204A>C
c.829A>C (p.Ile277Leu)
c.910A>C (p.Ile304Leu)
c.892A>C (p.Ile298Leu)
c.790A>C (p.Ile264Leu)
n.1486-765T>G
c.970A>C (p.Ile324Leu)
c.1072A>C (p.Ile358Leu)
c.1012A>C (p.Ile338Leu)
n.4197-765T>G
c.895A>C (p.Ile299Leu)
c.913A>C (p.Ile305Leu)
c.670A>C (p.Ile224Leu)
c.703A>C (p.Ile235Leu)
c.721A>C (p.Ile241Leu)
2g.127427153A>GCA348402203PROCc.727A>G (p.Ile243Val)
c.121-1204A>G
c.829A>G (p.Ile277Val)
c.910A>G (p.Ile304Val)
c.892A>G (p.Ile298Val)
c.790A>G (p.Ile264Val)
n.1486-765T>C
c.970A>G (p.Ile324Val)
c.1072A>G (p.Ile358Val)
c.1012A>G (p.Ile338Val)
n.4197-765T>C
c.895A>G (p.Ile299Val)
c.913A>G (p.Ile305Val)
c.670A>G (p.Ile224Val)
c.703A>G (p.Ile235Val)
c.721A>G (p.Ile241Val)
2g.127427153A>TCA348402204PROCc.727A>T (p.Ile243Phe)
c.121-1204A>T
c.829A>T (p.Ile277Phe)
c.910A>T (p.Ile304Phe)
c.892A>T (p.Ile298Phe)
c.790A>T (p.Ile264Phe)
n.1486-765T>A
c.970A>T (p.Ile324Phe)
c.1072A>T (p.Ile358Phe)
c.1012A>T (p.Ile338Phe)
n.4197-765T>A
c.895A>T (p.Ile299Phe)
c.913A>T (p.Ile305Phe)
c.670A>T (p.Ile224Phe)
c.703A>T (p.Ile235Phe)
c.721A>T (p.Ile241Phe)
 gnomAD v4
2g.127427154T>ACA348402208PROCc.728T>A (p.Ile243Asn)
c.121-1203T>A
c.830T>A (p.Ile277Asn)
c.911T>A (p.Ile304Asn)
c.893T>A (p.Ile298Asn)
c.791T>A (p.Ile264Asn)
n.1486-766A>T
c.971T>A (p.Ile324Asn)
c.1073T>A (p.Ile358Asn)
c.1013T>A (p.Ile338Asn)
n.4197-766A>T
c.896T>A (p.Ile299Asn)
c.914T>A (p.Ile305Asn)
c.671T>A (p.Ile224Asn)
c.704T>A (p.Ile235Asn)
c.722T>A (p.Ile241Asn)
2g.127427154T>CCA1859433PROCc.728T>C (p.Ile243Thr)
c.121-1203T>C
c.830T>C (p.Ile277Thr)
c.911T>C (p.Ile304Thr)
c.893T>C (p.Ile298Thr)
c.791T>C (p.Ile264Thr)
n.1486-766A>G
c.971T>C (p.Ile324Thr)
c.1073T>C (p.Ile358Thr)
c.1013T>C (p.Ile338Thr)
n.4197-766A>G
c.896T>C (p.Ile299Thr)
c.914T>C (p.Ile305Thr)
c.671T>C (p.Ile224Thr)
c.704T>C (p.Ile235Thr)
c.722T>C (p.Ile241Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427154T>GCA348402212PROCc.728T>G (p.Ile243Ser)
c.121-1203T>G
c.830T>G (p.Ile277Ser)
c.911T>G (p.Ile304Ser)
c.893T>G (p.Ile298Ser)
c.791T>G (p.Ile264Ser)
n.1486-766A>C
c.971T>G (p.Ile324Ser)
c.1073T>G (p.Ile358Ser)
c.1013T>G (p.Ile338Ser)
n.4197-766A>C
c.896T>G (p.Ile299Ser)
c.914T>G (p.Ile305Ser)
c.671T>G (p.Ile224Ser)
c.704T>G (p.Ile235Ser)
c.722T>G (p.Ile241Ser)
2g.127427154T=CA1286883856PROCc.728T= (p.Ile243=)
c.121-1203T=
c.830T= (p.Ile277=)
c.911T= (p.Ile304=)
c.893T= (p.Ile298=)
c.791T= (p.Ile264=)
n.1486-766A=
c.971T= (p.Ile324=)
c.1073T= (p.Ile358=)
c.1013T= (p.Ile338=)
n.4197-766A=
c.896T= (p.Ile299=)
c.914T= (p.Ile305=)
c.671T= (p.Ile224=)
c.704T= (p.Ile235=)
c.722T= (p.Ile241=)
2g.127427155C>ACA428618571PROCc.729C>A (p.Ile243=)
c.121-1202C>A
c.831C>A (p.Ile277=)
c.912C>A (p.Ile304=)
c.894C>A (p.Ile298=)
c.792C>A (p.Ile264=)
n.1486-767G>T
c.972C>A (p.Ile324=)
c.1074C>A (p.Ile358=)
c.1014C>A (p.Ile338=)
n.4197-767G>T
c.897C>A (p.Ile299=)
c.915C>A (p.Ile305=)
c.672C>A (p.Ile224=)
c.705C>A (p.Ile235=)
c.723C>A (p.Ile241=)
2g.127427155C=CA1286883857PROCc.729C= (p.Ile243=)
c.121-1202C=
c.831C= (p.Ile277=)
c.912C= (p.Ile304=)
c.894C= (p.Ile298=)
c.792C= (p.Ile264=)
n.1486-767G=
c.972C= (p.Ile324=)
c.1074C= (p.Ile358=)
c.1014C= (p.Ile338=)
n.4197-767G=
c.897C= (p.Ile299=)
c.915C= (p.Ile305=)
c.672C= (p.Ile224=)
c.705C= (p.Ile235=)
c.723C= (p.Ile241=)
2g.127427155C>GCA348402216PROCc.729C>G (p.Ile243Met)
c.121-1202C>G
c.831C>G (p.Ile277Met)
c.912C>G (p.Ile304Met)
c.894C>G (p.Ile298Met)
c.792C>G (p.Ile264Met)
n.1486-767G>C
c.972C>G (p.Ile324Met)
c.1074C>G (p.Ile358Met)
c.1014C>G (p.Ile338Met)
n.4197-767G>C
c.897C>G (p.Ile299Met)
c.915C>G (p.Ile305Met)
c.672C>G (p.Ile224Met)
c.705C>G (p.Ile235Met)
c.723C>G (p.Ile241Met)
2g.127427155C>TCA428618572PROCc.729C>T (p.Ile243=)
c.121-1202C>T
c.831C>T (p.Ile277=)
c.912C>T (p.Ile304=)
c.894C>T (p.Ile298=)
c.792C>T (p.Ile264=)
n.1486-767G>A
c.972C>T (p.Ile324=)
c.1074C>T (p.Ile358=)
c.1014C>T (p.Ile338=)
n.4197-767G>A
c.897C>T (p.Ile299=)
c.915C>T (p.Ile305=)
c.672C>T (p.Ile224=)
c.705C>T (p.Ile235=)
c.723C>T (p.Ile241=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427156C>ACA348402220PROCc.730C>A (p.His244Asn)
c.121-1201C>A
c.832C>A (p.His278Asn)
c.913C>A (p.His305Asn)
c.895C>A (p.His299Asn)
c.793C>A (p.His265Asn)
n.1486-768G>T
c.973C>A (p.His325Asn)
c.1075C>A (p.His359Asn)
c.1015C>A (p.His339Asn)
n.4197-768G>T
c.898C>A (p.His300Asn)
c.916C>A (p.His306Asn)
c.673C>A (p.His225Asn)
c.706C>A (p.His236Asn)
c.724C>A (p.His242Asn)
2g.127427156C=CA1286883858PROCc.730C= (p.His244=)
c.121-1201C=
c.832C= (p.His278=)
c.913C= (p.His305=)
c.895C= (p.His299=)
c.793C= (p.His265=)
n.1486-768G=
c.973C= (p.His325=)
c.1075C= (p.His359=)
c.1015C= (p.His339=)
n.4197-768G=
c.898C= (p.His300=)
c.916C= (p.His306=)
c.673C= (p.His225=)
c.706C= (p.His236=)
c.724C= (p.His242=)
2g.127427156C>GCA348402221PROCc.730C>G (p.His244Asp)
c.121-1201C>G
c.832C>G (p.His278Asp)
c.913C>G (p.His305Asp)
c.895C>G (p.His299Asp)
c.793C>G (p.His265Asp)
n.1486-768G>C
c.973C>G (p.His325Asp)
c.1075C>G (p.His359Asp)
c.1015C>G (p.His339Asp)
n.4197-768G>C
c.898C>G (p.His300Asp)
c.916C>G (p.His306Asp)
c.673C>G (p.His225Asp)
c.706C>G (p.His236Asp)
c.724C>G (p.His242Asp)
2g.127427156C>TCA1859434PROCc.730C>T (p.His244Tyr)
c.121-1201C>T
c.832C>T (p.His278Tyr)
c.913C>T (p.His305Tyr)
c.895C>T (p.His299Tyr)
c.793C>T (p.His265Tyr)
n.1486-768G>A
c.973C>T (p.His325Tyr)
c.1075C>T (p.His359Tyr)
c.1015C>T (p.His339Tyr)
n.4197-768G>A
c.898C>T (p.His300Tyr)
c.916C>T (p.His306Tyr)
c.673C>T (p.His225Tyr)
c.706C>T (p.His236Tyr)
c.724C>T (p.His242Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427157A=CA1286883859PROCc.731A= (p.His244=)
c.121-1200A=
c.833A= (p.His278=)
c.914A= (p.His305=)
c.896A= (p.His299=)
c.794A= (p.His265=)
n.1486-769T=
c.974A= (p.His325=)
c.1076A= (p.His359=)
c.1016A= (p.His339=)
n.4197-769T=
c.899A= (p.His300=)
c.917A= (p.His306=)
c.674A= (p.His225=)
c.707A= (p.His236=)
c.725A= (p.His242=)
2g.127427157A>CCA348402226PROCc.731A>C (p.His244Pro)
c.121-1200A>C
c.833A>C (p.His278Pro)
c.914A>C (p.His305Pro)
c.896A>C (p.His299Pro)
c.794A>C (p.His265Pro)
n.1486-769T>G
c.974A>C (p.His325Pro)
c.1076A>C (p.His359Pro)
c.1016A>C (p.His339Pro)
n.4197-769T>G
c.899A>C (p.His300Pro)
c.917A>C (p.His306Pro)
c.674A>C (p.His225Pro)
c.707A>C (p.His236Pro)
c.725A>C (p.His242Pro)
2g.127427157A>GCA348402228PROCc.731A>G (p.His244Arg)
c.121-1200A>G
c.833A>G (p.His278Arg)
c.914A>G (p.His305Arg)
c.896A>G (p.His299Arg)
c.794A>G (p.His265Arg)
n.1486-769T>C
c.974A>G (p.His325Arg)
c.1076A>G (p.His359Arg)
c.1016A>G (p.His339Arg)
n.4197-769T>C
c.899A>G (p.His300Arg)
c.917A>G (p.His306Arg)
c.674A>G (p.His225Arg)
c.707A>G (p.His236Arg)
c.725A>G (p.His242Arg)
 dbSNP COSMIC COSMIC
2g.127427157A>TCA348402231PROCc.731A>T (p.His244Leu)
c.121-1200A>T
c.833A>T (p.His278Leu)
c.914A>T (p.His305Leu)
c.896A>T (p.His299Leu)
c.794A>T (p.His265Leu)
n.1486-769T>A
c.974A>T (p.His325Leu)
c.1076A>T (p.His359Leu)
c.1016A>T (p.His339Leu)
n.4197-769T>A
c.899A>T (p.His300Leu)
c.917A>T (p.His306Leu)
c.674A>T (p.His225Leu)
c.707A>T (p.His236Leu)
c.725A>T (p.His242Leu)
2g.127427158C>ACA348402235PROCc.732C>A (p.His244Gln)
c.121-1199C>A
c.834C>A (p.His278Gln)
c.915C>A (p.His305Gln)
c.897C>A (p.His299Gln)
c.795C>A (p.His265Gln)
n.1486-770G>T
c.975C>A (p.His325Gln)
c.1077C>A (p.His359Gln)
c.1017C>A (p.His339Gln)
n.4197-770G>T
c.900C>A (p.His300Gln)
c.918C>A (p.His306Gln)
c.675C>A (p.His225Gln)
c.708C>A (p.His236Gln)
c.726C>A (p.His242Gln)
 gnomAD v4
2g.127427158C=CA1286883860PROCc.732C= (p.His244=)
c.121-1199C=
c.834C= (p.His278=)
c.915C= (p.His305=)
c.897C= (p.His299=)
c.795C= (p.His265=)
n.1486-770G=
c.975C= (p.His325=)
c.1077C= (p.His359=)
c.1017C= (p.His339=)
n.4197-770G=
c.900C= (p.His300=)
c.918C= (p.His306=)
c.675C= (p.His225=)
c.708C= (p.His236=)
c.726C= (p.His242=)
2g.127427158C>GCA348402238PROCc.732C>G (p.His244Gln)
c.121-1199C>G
c.834C>G (p.His278Gln)
c.915C>G (p.His305Gln)
c.897C>G (p.His299Gln)
c.795C>G (p.His265Gln)
n.1486-770G>C
c.975C>G (p.His325Gln)
c.1077C>G (p.His359Gln)
c.1017C>G (p.His339Gln)
n.4197-770G>C
c.900C>G (p.His300Gln)
c.918C>G (p.His306Gln)
c.675C>G (p.His225Gln)
c.708C>G (p.His236Gln)
c.726C>G (p.His242Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.127427158C>TCA1859435PROCc.732C>T (p.His244=)
c.121-1199C>T
c.834C>T (p.His278=)
c.915C>T (p.His305=)
c.897C>T (p.His299=)
c.795C>T (p.His265=)
n.1486-770G>A
c.975C>T (p.His325=)
c.1077C>T (p.His359=)
c.1017C>T (p.His339=)
n.4197-770G>A
c.900C>T (p.His300=)
c.918C>T (p.His306=)
c.675C>T (p.His225=)
c.708C>T (p.His236=)
c.726C>T (p.His242=)
 dbSNP ExAC gnomAD v2
2g.127427159C>ACA348402245PROCc.733C>A (p.Pro245Thr)
c.121-1198C>A
c.835C>A (p.Pro279Thr)
c.916C>A (p.Pro306Thr)
c.898C>A (p.Pro300Thr)
c.796C>A (p.Pro266Thr)
n.1486-771G>T
c.976C>A (p.Pro326Thr)
c.1078C>A (p.Pro360Thr)
c.1018C>A (p.Pro340Thr)
n.4197-771G>T
c.901C>A (p.Pro301Thr)
c.919C>A (p.Pro307Thr)
c.676C>A (p.Pro226Thr)
c.709C>A (p.Pro237Thr)
c.727C>A (p.Pro243Thr)
 COSMIC
2g.127427159C=CA1286883861PROCc.733C= (p.Pro245=)
c.121-1198C=
c.835C= (p.Pro279=)
c.916C= (p.Pro306=)
c.898C= (p.Pro300=)
c.796C= (p.Pro266=)
n.1486-771G=
c.976C= (p.Pro326=)
c.1078C= (p.Pro360=)
c.1018C= (p.Pro340=)
n.4197-771G=
c.901C= (p.Pro301=)
c.919C= (p.Pro307=)
c.676C= (p.Pro226=)
c.709C= (p.Pro237=)
c.727C= (p.Pro243=)
2g.127427159C>GCA348402249PROCc.733C>G (p.Pro245Ala)
c.121-1198C>G
c.835C>G (p.Pro279Ala)
c.916C>G (p.Pro306Ala)
c.898C>G (p.Pro300Ala)
c.796C>G (p.Pro266Ala)
n.1486-771G>C
c.976C>G (p.Pro326Ala)
c.1078C>G (p.Pro360Ala)
c.1018C>G (p.Pro340Ala)
n.4197-771G>C
c.901C>G (p.Pro301Ala)
c.919C>G (p.Pro307Ala)
c.676C>G (p.Pro226Ala)
c.709C>G (p.Pro237Ala)
c.727C>G (p.Pro243Ala)
2g.127427159C>TCA348402243PROCc.733C>T (p.Pro245Ser)
c.121-1198C>T
c.835C>T (p.Pro279Ser)
c.916C>T (p.Pro306Ser)
c.898C>T (p.Pro300Ser)
c.796C>T (p.Pro266Ser)
n.1486-771G>A
c.976C>T (p.Pro326Ser)
c.1078C>T (p.Pro360Ser)
c.1018C>T (p.Pro340Ser)
n.4197-771G>A
c.901C>T (p.Pro301Ser)
c.919C>T (p.Pro307Ser)
c.676C>T (p.Pro226Ser)
c.709C>T (p.Pro237Ser)
c.727C>T (p.Pro243Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427160C>ACA348402250PROCc.734C>A (p.Pro245His)
c.121-1197C>A
c.836C>A (p.Pro279His)
c.917C>A (p.Pro306His)
c.899C>A (p.Pro300His)
c.797C>A (p.Pro266His)
n.1486-772G>T
c.977C>A (p.Pro326His)
c.1079C>A (p.Pro360His)
c.1019C>A (p.Pro340His)
n.4197-772G>T
c.902C>A (p.Pro301His)
c.920C>A (p.Pro307His)
c.677C>A (p.Pro226His)
c.710C>A (p.Pro237His)
c.728C>A (p.Pro243His)
2g.127427160C=CA1286883862PROCc.734C= (p.Pro245=)
c.121-1197C=
c.836C= (p.Pro279=)
c.917C= (p.Pro306=)
c.899C= (p.Pro300=)
c.797C= (p.Pro266=)
n.1486-772G=
c.977C= (p.Pro326=)
c.1079C= (p.Pro360=)
c.1019C= (p.Pro340=)
n.4197-772G=
c.902C= (p.Pro301=)
c.920C= (p.Pro307=)
c.677C= (p.Pro226=)
c.710C= (p.Pro237=)
c.728C= (p.Pro243=)
2g.127427160C>GCA348402252PROCc.734C>G (p.Pro245Arg)
c.121-1197C>G
c.836C>G (p.Pro279Arg)
c.917C>G (p.Pro306Arg)
c.899C>G (p.Pro300Arg)
c.797C>G (p.Pro266Arg)
n.1486-772G>C
c.977C>G (p.Pro326Arg)
c.1079C>G (p.Pro360Arg)
c.1019C>G (p.Pro340Arg)
n.4197-772G>C
c.902C>G (p.Pro301Arg)
c.920C>G (p.Pro307Arg)
c.677C>G (p.Pro226Arg)
c.710C>G (p.Pro237Arg)
c.728C>G (p.Pro243Arg)
2g.127427160C>TCA348402254PROCc.734C>T (p.Pro245Leu)
c.121-1197C>T
c.836C>T (p.Pro279Leu)
c.917C>T (p.Pro306Leu)
c.899C>T (p.Pro300Leu)
c.797C>T (p.Pro266Leu)
n.1486-772G>A
c.977C>T (p.Pro326Leu)
c.1079C>T (p.Pro360Leu)
c.1019C>T (p.Pro340Leu)
n.4197-772G>A
c.902C>T (p.Pro301Leu)
c.920C>T (p.Pro307Leu)
c.677C>T (p.Pro226Leu)
c.710C>T (p.Pro237Leu)
c.728C>T (p.Pro243Leu)
 dbSNP gnomAD v4
2g.127427161C>ACA428618578PROCc.735C>A (p.Pro245=)
c.121-1196C>A
c.837C>A (p.Pro279=)
c.918C>A (p.Pro306=)
c.900C>A (p.Pro300=)
c.798C>A (p.Pro266=)
n.1486-773G>T
c.978C>A (p.Pro326=)
c.1080C>A (p.Pro360=)
c.1020C>A (p.Pro340=)
n.4197-773G>T
c.903C>A (p.Pro301=)
c.921C>A (p.Pro307=)
c.678C>A (p.Pro226=)
c.711C>A (p.Pro237=)
c.729C>A (p.Pro243=)
2g.127427161C=CA1286883863PROCc.735C= (p.Pro245=)
c.121-1196C=
c.837C= (p.Pro279=)
c.918C= (p.Pro306=)
c.900C= (p.Pro300=)
c.798C= (p.Pro266=)
n.1486-773G=
c.978C= (p.Pro326=)
c.1080C= (p.Pro360=)
c.1020C= (p.Pro340=)
n.4197-773G=
c.903C= (p.Pro301=)
c.921C= (p.Pro307=)
c.678C= (p.Pro226=)
c.711C= (p.Pro237=)
c.729C= (p.Pro243=)
2g.127427161C>GCA1859436PROCc.735C>G (p.Pro245=)
c.121-1196C>G
c.837C>G (p.Pro279=)
c.918C>G (p.Pro306=)
c.900C>G (p.Pro300=)
c.798C>G (p.Pro266=)
n.1486-773G>C
c.978C>G (p.Pro326=)
c.1080C>G (p.Pro360=)
c.1020C>G (p.Pro340=)
n.4197-773G>C
c.903C>G (p.Pro301=)
c.921C>G (p.Pro307=)
c.678C>G (p.Pro226=)
c.711C>G (p.Pro237=)
c.729C>G (p.Pro243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427161C>TCA428618581PROCc.735C>T (p.Pro245=)
c.121-1196C>T
c.837C>T (p.Pro279=)
c.918C>T (p.Pro306=)
c.900C>T (p.Pro300=)
c.798C>T (p.Pro266=)
n.1486-773G>A
c.978C>T (p.Pro326=)
c.1080C>T (p.Pro360=)
c.1020C>T (p.Pro340=)
n.4197-773G>A
c.903C>T (p.Pro301=)
c.921C>T (p.Pro307=)
c.678C>T (p.Pro226=)
c.711C>T (p.Pro237=)
c.729C>T (p.Pro243=)
2g.127427162T>ACA348402258PROCc.736T>A (p.Ser246Thr)
c.121-1195T>A
c.838T>A (p.Ser280Thr)
c.919T>A (p.Ser307Thr)
c.901T>A (p.Ser301Thr)
c.799T>A (p.Ser267Thr)
n.1486-774A>T
c.979T>A (p.Ser327Thr)
c.1081T>A (p.Ser361Thr)
c.1021T>A (p.Ser341Thr)
n.4197-774A>T
c.904T>A (p.Ser302Thr)
c.922T>A (p.Ser308Thr)
c.679T>A (p.Ser227Thr)
c.712T>A (p.Ser238Thr)
c.730T>A (p.Ser244Thr)
2g.127427162T>CCA348402260PROCc.736T>C (p.Ser246Pro)
c.121-1195T>C
c.838T>C (p.Ser280Pro)
c.919T>C (p.Ser307Pro)
c.901T>C (p.Ser301Pro)
c.799T>C (p.Ser267Pro)
n.1486-774A>G
c.979T>C (p.Ser327Pro)
c.1081T>C (p.Ser361Pro)
c.1021T>C (p.Ser341Pro)
n.4197-774A>G
c.904T>C (p.Ser302Pro)
c.922T>C (p.Ser308Pro)
c.679T>C (p.Ser227Pro)
c.712T>C (p.Ser238Pro)
c.730T>C (p.Ser244Pro)
2g.127427162T>GCA348402262PROCc.736T>G (p.Ser246Ala)
c.121-1195T>G
c.838T>G (p.Ser280Ala)
c.919T>G (p.Ser307Ala)
c.901T>G (p.Ser301Ala)
c.799T>G (p.Ser267Ala)
n.1486-774A>C
c.979T>G (p.Ser327Ala)
c.1081T>G (p.Ser361Ala)
c.1021T>G (p.Ser341Ala)
n.4197-774A>C
c.904T>G (p.Ser302Ala)
c.922T>G (p.Ser308Ala)
c.679T>G (p.Ser227Ala)
c.712T>G (p.Ser238Ala)
c.730T>G (p.Ser244Ala)
2g.127427163C>ACA348402265PROCc.737C>A (p.Ser246Tyr)
c.121-1194C>A
c.839C>A (p.Ser280Tyr)
c.920C>A (p.Ser307Tyr)
c.902C>A (p.Ser301Tyr)
c.800C>A (p.Ser267Tyr)
n.1486-775G>T
c.980C>A (p.Ser327Tyr)
c.1082C>A (p.Ser361Tyr)
c.1022C>A (p.Ser341Tyr)
n.4197-775G>T
c.905C>A (p.Ser302Tyr)
c.923C>A (p.Ser308Tyr)
c.680C>A (p.Ser227Tyr)
c.713C>A (p.Ser238Tyr)
c.731C>A (p.Ser244Tyr)
2g.127427163C>GCA348402268PROCc.737C>G (p.Ser246Cys)
c.121-1194C>G
c.839C>G (p.Ser280Cys)
c.920C>G (p.Ser307Cys)
c.902C>G (p.Ser301Cys)
c.800C>G (p.Ser267Cys)
n.1486-775G>C
c.980C>G (p.Ser327Cys)
c.1082C>G (p.Ser361Cys)
c.1022C>G (p.Ser341Cys)
n.4197-775G>C
c.905C>G (p.Ser302Cys)
c.923C>G (p.Ser308Cys)
c.680C>G (p.Ser227Cys)
c.713C>G (p.Ser238Cys)
c.731C>G (p.Ser244Cys)
2g.127427163C>TCA348402270PROCc.737C>T (p.Ser246Phe)
c.121-1194C>T
c.839C>T (p.Ser280Phe)
c.920C>T (p.Ser307Phe)
c.902C>T (p.Ser301Phe)
c.800C>T (p.Ser267Phe)
n.1486-775G>A
c.980C>T (p.Ser327Phe)
c.1082C>T (p.Ser361Phe)
c.1022C>T (p.Ser341Phe)
n.4197-775G>A
c.905C>T (p.Ser302Phe)
c.923C>T (p.Ser308Phe)
c.680C>T (p.Ser227Phe)
c.713C>T (p.Ser238Phe)
c.731C>T (p.Ser244Phe)
2g.127427164C>ACA428618588PROCc.738C>A (p.Ser246=)
c.121-1193C>A
c.840C>A (p.Ser280=)
c.921C>A (p.Ser307=)
c.903C>A (p.Ser301=)
c.801C>A (p.Ser267=)
n.1486-776G>T
c.981C>A (p.Ser327=)
c.1083C>A (p.Ser361=)
c.1023C>A (p.Ser341=)
n.4197-776G>T
c.906C>A (p.Ser302=)
c.924C>A (p.Ser308=)
c.681C>A (p.Ser227=)
c.714C>A (p.Ser238=)
c.732C>A (p.Ser244=)
2g.127427164C=CA1286883864PROCc.738C= (p.Ser246=)
c.121-1193C=
c.840C= (p.Ser280=)
c.921C= (p.Ser307=)
c.903C= (p.Ser301=)
c.801C= (p.Ser267=)
n.1486-776G=
c.981C= (p.Ser327=)
c.1083C= (p.Ser361=)
c.1023C= (p.Ser341=)
n.4197-776G=
c.906C= (p.Ser302=)
c.924C= (p.Ser308=)
c.681C= (p.Ser227=)
c.714C= (p.Ser238=)
c.732C= (p.Ser244=)
2g.127427164C>GCA428618589PROCc.738C>G (p.Ser246=)
c.121-1193C>G
c.840C>G (p.Ser280=)
c.921C>G (p.Ser307=)
c.903C>G (p.Ser301=)
c.801C>G (p.Ser267=)
n.1486-776G>C
c.981C>G (p.Ser327=)
c.1083C>G (p.Ser361=)
c.1023C>G (p.Ser341=)
n.4197-776G>C
c.906C>G (p.Ser302=)
c.924C>G (p.Ser308=)
c.681C>G (p.Ser227=)
c.714C>G (p.Ser238=)
c.732C>G (p.Ser244=)
 dbSNP
2g.127427164C>TCA428618591PROCc.738C>T (p.Ser246=)
c.121-1193C>T
c.840C>T (p.Ser280=)
c.921C>T (p.Ser307=)
c.903C>T (p.Ser301=)
c.801C>T (p.Ser267=)
n.1486-776G>A
c.981C>T (p.Ser327=)
c.1083C>T (p.Ser361=)
c.1023C>T (p.Ser341=)
n.4197-776G>A
c.906C>T (p.Ser302=)
c.924C>T (p.Ser308=)
c.681C>T (p.Ser227=)
c.714C>T (p.Ser238=)
c.732C>T (p.Ser244=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427165T>ACA348402276PROCc.739T>A (p.Trp247Arg)
c.121-1192T>A
c.841T>A (p.Trp281Arg)
c.922T>A (p.Trp308Arg)
c.904T>A (p.Trp302Arg)
c.802T>A (p.Trp268Arg)
n.1486-777A>T
c.982T>A (p.Trp328Arg)
c.1084T>A (p.Trp362Arg)
c.1024T>A (p.Trp342Arg)
n.4197-777A>T
c.907T>A (p.Trp303Arg)
c.925T>A (p.Trp309Arg)
c.682T>A (p.Trp228Arg)
c.715T>A (p.Trp239Arg)
c.733T>A (p.Trp245Arg)
2g.127427165T>CCA348402278PROCc.739T>C (p.Trp247Arg)
c.121-1192T>C
c.841T>C (p.Trp281Arg)
c.922T>C (p.Trp308Arg)
c.904T>C (p.Trp302Arg)
c.802T>C (p.Trp268Arg)
n.1486-777A>G
c.982T>C (p.Trp328Arg)
c.1084T>C (p.Trp362Arg)
c.1024T>C (p.Trp342Arg)
n.4197-777A>G
c.907T>C (p.Trp303Arg)
c.925T>C (p.Trp309Arg)
c.682T>C (p.Trp228Arg)
c.715T>C (p.Trp239Arg)
c.733T>C (p.Trp245Arg)
2g.127427165T>GCA348402279PROCc.739T>G (p.Trp247Gly)
c.121-1192T>G
c.841T>G (p.Trp281Gly)
c.922T>G (p.Trp308Gly)
c.904T>G (p.Trp302Gly)
c.802T>G (p.Trp268Gly)
n.1486-777A>C
c.982T>G (p.Trp328Gly)
c.1084T>G (p.Trp362Gly)
c.1024T>G (p.Trp342Gly)
n.4197-777A>C
c.907T>G (p.Trp303Gly)
c.925T>G (p.Trp309Gly)
c.682T>G (p.Trp228Gly)
c.715T>G (p.Trp239Gly)
c.733T>G (p.Trp245Gly)
2g.127427166G>ACA348402287PROCc.740G>A (p.Trp247Ter)
c.121-1191G>A
c.842G>A (p.Trp281Ter)
c.923G>A (p.Trp308Ter)
c.905G>A (p.Trp302Ter)
c.803G>A (p.Trp268Ter)
n.1486-778C>T
c.983G>A (p.Trp328Ter)
c.1085G>A (p.Trp362Ter)
c.1025G>A (p.Trp342Ter)
n.4197-778C>T
c.908G>A (p.Trp303Ter)
c.926G>A (p.Trp309Ter)
c.683G>A (p.Trp228Ter)
c.716G>A (p.Trp239Ter)
c.734G>A (p.Trp245Ter)
2g.127427166G>CCA348402284PROCc.740G>C (p.Trp247Ser)
c.121-1191G>C
c.842G>C (p.Trp281Ser)
c.923G>C (p.Trp308Ser)
c.905G>C (p.Trp302Ser)
c.803G>C (p.Trp268Ser)
n.1486-778C>G
c.983G>C (p.Trp328Ser)
c.1085G>C (p.Trp362Ser)
c.1025G>C (p.Trp342Ser)
n.4197-778C>G
c.908G>C (p.Trp303Ser)
c.926G>C (p.Trp309Ser)
c.683G>C (p.Trp228Ser)
c.716G>C (p.Trp239Ser)
c.734G>C (p.Trp245Ser)
2g.127427166G=CA1286883865PROCc.740G= (p.Trp247=)
c.121-1191G=
c.842G= (p.Trp281=)
c.923G= (p.Trp308=)
c.905G= (p.Trp302=)
c.803G= (p.Trp268=)
n.1486-778C=
c.983G= (p.Trp328=)
c.1085G= (p.Trp362=)
c.1025G= (p.Trp342=)
n.4197-778C=
c.908G= (p.Trp303=)
c.926G= (p.Trp309=)
c.683G= (p.Trp228=)
c.716G= (p.Trp239=)
c.734G= (p.Trp245=)
2g.127427166G>TCA348402282PROCc.740G>T (p.Trp247Leu)
c.121-1191G>T
c.842G>T (p.Trp281Leu)
c.923G>T (p.Trp308Leu)
c.905G>T (p.Trp302Leu)
c.803G>T (p.Trp268Leu)
n.1486-778C>A
c.983G>T (p.Trp328Leu)
c.1085G>T (p.Trp362Leu)
c.1025G>T (p.Trp342Leu)
n.4197-778C>A
c.908G>T (p.Trp303Leu)
c.926G>T (p.Trp309Leu)
c.683G>T (p.Trp228Leu)
c.716G>T (p.Trp239Leu)
c.734G>T (p.Trp245Leu)
2g.127427167G>ACA348402290PROCc.741G>A (p.Trp247Ter)
c.121-1190G>A
c.843G>A (p.Trp281Ter)
c.924G>A (p.Trp308Ter)
c.906G>A (p.Trp302Ter)
c.804G>A (p.Trp268Ter)
n.1486-779C>T
c.984G>A (p.Trp328Ter)
c.1086G>A (p.Trp362Ter)
c.1026G>A (p.Trp342Ter)
n.4197-779C>T
c.909G>A (p.Trp303Ter)
c.927G>A (p.Trp309Ter)
c.684G>A (p.Trp228Ter)
c.717G>A (p.Trp239Ter)
c.735G>A (p.Trp245Ter)
2g.127427167G>CCA348402292PROCc.741G>C (p.Trp247Cys)
c.121-1190G>C
c.843G>C (p.Trp281Cys)
c.924G>C (p.Trp308Cys)
c.906G>C (p.Trp302Cys)
c.804G>C (p.Trp268Cys)
n.1486-779C>G
c.984G>C (p.Trp328Cys)
c.1086G>C (p.Trp362Cys)
c.1026G>C (p.Trp342Cys)
n.4197-779C>G
c.909G>C (p.Trp303Cys)
c.927G>C (p.Trp309Cys)
c.684G>C (p.Trp228Cys)
c.717G>C (p.Trp239Cys)
c.735G>C (p.Trp245Cys)
2g.127427167G>TCA348402294PROCc.741G>T (p.Trp247Cys)
c.121-1190G>T
c.843G>T (p.Trp281Cys)
c.924G>T (p.Trp308Cys)
c.906G>T (p.Trp302Cys)
c.804G>T (p.Trp268Cys)
n.1486-779C>A
c.984G>T (p.Trp328Cys)
c.1086G>T (p.Trp362Cys)
c.1026G>T (p.Trp342Cys)
n.4197-779C>A
c.909G>T (p.Trp303Cys)
c.927G>T (p.Trp309Cys)
c.684G>T (p.Trp228Cys)
c.717G>T (p.Trp239Cys)
c.735G>T (p.Trp245Cys)

Number of alleles fetched