Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202530714_202530716del | CA2662706036 | BMPR2 | c.968-80_968-78del (n.968-80_968-78del) c.899-80_899-78del (n.899-80_899-78del) | gnomAD v4 |
2 | g.202530712C>A | CA2662706039 | BMPR2 | c.968-82C>A (n.968-82C>A) c.899-82C>A (n.899-82C>A) | gnomAD v4 |
2 | g.202530712C>G | CA2662706040 | BMPR2 | c.968-82C>G (n.968-82C>G) c.899-82C>G (n.899-82C>G) | gnomAD v4 |
2 | g.202530712C>T | CA2662706041 | BMPR2 | c.968-82C>T (n.968-82C>T) c.899-82C>T (n.899-82C>T) | gnomAD v4 |
2 | g.202530713T>A | CA763433301 | BMPR2 | c.968-81T>A (n.968-81T>A) c.899-81T>A (n.899-81T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530713T>C | CA647681757 | BMPR2 | c.968-81T>C (n.968-81T>C) c.899-81T>C (n.899-81T>C) | gnomAD v4 COSMIC |
2 | g.202530713T>G | CA1041346399 | BMPR2 | c.968-81T>G (n.968-81T>G) c.899-81T>G (n.899-81T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530713T= | CA1321544857 | BMPR2 | c.968-81T= (n.968-81T=) c.899-81T= (n.899-81T=) | |
2 | g.202530714A>C | CA2662706045 | BMPR2 | c.968-80A>C (n.968-80A>C) c.899-80A>C (n.899-80A>C) | gnomAD v4 |
2 | g.202530714A>G | CA2577215640 | BMPR2 | c.968-80A>G (n.968-80A>G) c.899-80A>G (n.899-80A>G) | gnomAD v4 |
2 | g.202530714_202530717delinsACTT | CA1321544858 | BMPR2 | c.968-80_968-77delinsACTT (n.968-80_968-77delinsACTT) c.899-80_899-77delinsACTT (n.899-80_899-77delinsACTT) | |
2 | g.202530715C>A | CA2577215641 | BMPR2 | c.968-79C>A (n.968-79C>A) c.899-79C>A (n.899-79C>A) | gnomAD v4 |
2 | g.202530717_202530719del | CA1041346400 | BMPR2 | c.968-77_968-75del (n.968-77_968-75del) c.899-77_899-75del (n.899-77_899-75del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530717dup | CA2662706047 | BMPR2 | c.968-77dup (n.968-77dup) c.899-77dup (n.899-77dup) | gnomAD v4 |
2 | g.202530717T>A | CA64023208 | BMPR2 | c.968-77T>A (n.968-77T>A) c.899-77T>A (n.899-77T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530717T= | CA1321544859 | BMPR2 | c.968-77T= (n.968-77T=) c.899-77T= (n.899-77T=) | |
2 | g.202530718C>A | CA1321544861 | BMPR2 | c.968-76C>A (n.968-76C>A) c.899-76C>A (n.899-76C>A) | dbSNP |
2 | g.202530718C= | CA1321544860 | BMPR2 | c.968-76C= (n.968-76C=) c.899-76C= (n.899-76C=) | |
2 | g.202530718C>G | CA1041346402 | BMPR2 | c.968-76C>G (n.968-76C>G) c.899-76C>G (n.899-76C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530719T>C | CA2577215642 | BMPR2 | c.968-75T>C (n.968-75T>C) c.899-75T>C (n.899-75T>C) | gnomAD v4 |
2 | g.202530720A= | CA1321544862 | BMPR2 | c.968-74A= (n.968-74A=) c.899-74A= (n.899-74A=) | |
2 | g.202530720A>C | CA2662706052 | BMPR2 | c.968-74A>C (n.968-74A>C) c.899-74A>C (n.899-74A>C) | gnomAD v4 |
2 | g.202530720A>G | CA763433307 | BMPR2 | c.968-74A>G (n.968-74A>G) c.899-74A>G (n.899-74A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530720A>T | CA1041346404 | BMPR2 | c.968-74A>T (n.968-74A>T) c.899-74A>T (n.899-74A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530721T>C | CA2662706055 | BMPR2 | c.968-73T>C (n.968-73T>C) c.899-73T>C (n.899-73T>C) | gnomAD v4 |
2 | g.202530724_202530727del | CA2662706054 | BMPR2 | c.968-70_968-67del (n.968-70_968-67del) c.899-70_899-67del (n.899-70_899-67del) | gnomAD v4 |
2 | g.202530722A>G | CA2753905951 | BMPR2 | c.968-72A>G (n.968-72A>G) c.899-72A>G (n.899-72A>G) | |
2 | g.202530723T>C | CA763433308 | BMPR2 | c.968-71T>C (n.968-71T>C) c.899-71T>C (n.899-71T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530723T= | CA1321544863 | BMPR2 | c.968-71T= (n.968-71T=) c.899-71T= (n.899-71T=) | |
2 | g.202530724T>A | CA2662706056 | BMPR2 | c.968-70T>A (n.968-70T>A) c.899-70T>A (n.899-70T>A) | gnomAD v4 |
2 | g.202530726A>G | CA2753905952 | BMPR2 | c.968-68A>G (n.968-68A>G) c.899-68A>G (n.899-68A>G) | |
2 | g.202530727T>A | CA1321544865 | BMPR2 | c.968-67T>A (n.968-67T>A) c.899-67T>A (n.899-67T>A) | dbSNP gnomAD v4 |
2 | g.202530727T>C | CA2753905953 | BMPR2 | c.968-67T>C (n.968-67T>C) c.899-67T>C (n.899-67T>C) | |
2 | g.202530727T= | CA1321544864 | BMPR2 | c.968-67T= (n.968-67T=) c.899-67T= (n.899-67T=) | |
2 | g.202530728G>A | CA1321544867 | BMPR2 | c.968-66G>A (n.968-66G>A) c.899-66G>A (n.899-66G>A) | dbSNP gnomAD v4 |
2 | g.202530728G= | CA1321544866 | BMPR2 | c.968-66G= (n.968-66G=) c.899-66G= (n.899-66G=) | |
2 | g.202530728G>T | CA1041346406 | BMPR2 | c.968-66G>T (n.968-66G>T) c.899-66G>T (n.899-66G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530730A= | CA1321544868 | BMPR2 | c.968-64A= (n.968-64A=) c.899-64A= (n.899-64A=) | |
2 | g.202530730A>G | CA539387036 | BMPR2 | c.968-64A>G (n.968-64A>G) c.899-64A>G (n.899-64A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530730A>T | CA64023225 | BMPR2 | c.968-64A>T (n.968-64A>T) c.899-64A>T (n.899-64A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530731T>C | CA2577215643 | BMPR2 | c.968-63T>C (n.968-63T>C) c.899-63T>C (n.899-63T>C) | |
2 | g.202530732G>A | CA2701463278 | BMPR2 | c.968-62G>A (n.968-62G>A) c.899-62G>A (n.899-62G>A) | dbSNP |
2 | g.202530732G>T | CA2662706063 | BMPR2 | c.968-62G>T (n.968-62G>T) c.899-62G>T (n.899-62G>T) | gnomAD v4 |
2 | g.202530735C>A | CA2662706065 | BMPR2 | c.968-59C>A (n.968-59C>A) c.899-59C>A (n.899-59C>A) | gnomAD v4 |
2 | g.202530735C= | CA1321544869 | BMPR2 | c.968-59C= (n.968-59C=) c.899-59C= (n.899-59C=) | |
2 | g.202530735C>T | CA539387037 | BMPR2 | c.968-59C>T (n.968-59C>T) c.899-59C>T (n.899-59C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530736A>G | CA2662706068 | BMPR2 | c.968-58A>G (n.968-58A>G) c.899-58A>G (n.899-58A>G) | gnomAD v4 |
2 | g.202530740C>A | CA2662706070 | BMPR2 | c.968-54C>A (n.968-54C>A) c.899-54C>A (n.899-54C>A) | gnomAD v4 |
2 | g.202530740C>T | CA2753905954 | BMPR2 | c.968-54C>T (n.968-54C>T) c.899-54C>T (n.899-54C>T) | |
2 | g.202530741A= | CA1321544870 | BMPR2 | c.968-53A= (n.968-53A=) c.899-53A= (n.899-53A=) | |
2 | g.202530741A>G | CA539387038 | BMPR2 | c.968-53A>G (n.968-53A>G) c.899-53A>G (n.899-53A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530745T>C | CA2662706072 | BMPR2 | c.968-49T>C (n.968-49T>C) c.899-49T>C (n.899-49T>C) | gnomAD v4 |
2 | g.202530746C>A | CA2662706073 | BMPR2 | c.968-48C>A (n.968-48C>A) c.899-48C>A (n.899-48C>A) | gnomAD v4 |
2 | g.202530746_202530747delinsCA | CA1321544871 | BMPR2 | c.968-48_968-47delinsCA (n.968-48_968-47delinsCA) c.899-48_899-47delinsCA (n.899-48_899-47delinsCA) | |
2 | g.202530747A>C | CA2662706076 | BMPR2 | c.968-47A>C (n.968-47A>C) c.899-47A>C (n.899-47A>C) | gnomAD v4 |
2 | g.202530747A>G | CA2662706075 | BMPR2 | c.968-47A>G (n.968-47A>G) c.899-47A>G (n.899-47A>G) | gnomAD v4 |
2 | g.202530748del | CA539387039 | BMPR2 | c.968-46del (n.968-46del) c.899-46del (n.899-46del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530748A= | CA1321544872 | BMPR2 | c.968-46A= (n.968-46A=) c.899-46A= (n.899-46A=) | |
2 | g.202530748A>C | CA2061262 | BMPR2 | c.968-46A>C (n.968-46A>C) c.899-46A>C (n.899-46A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530748A>G | CA539387040 | BMPR2 | c.968-46A>G (n.968-46A>G) c.899-46A>G (n.899-46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530750A= | CA1321544873 | BMPR2 | c.968-44A= (n.968-44A=) c.899-44A= (n.899-44A=) | |
2 | g.202530750A>G | CA2061263 | BMPR2 | c.968-44A>G (n.968-44A>G) c.899-44A>G (n.899-44A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530751G>C | CA2061264 | BMPR2 | c.968-43G>C (n.968-43G>C) c.899-43G>C (n.899-43G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530751G= | CA1321544874 | BMPR2 | c.968-43G= (n.968-43G=) c.899-43G= (n.899-43G=) | |
2 | g.202530751G>T | CA2662706080 | BMPR2 | c.968-43G>T (n.968-43G>T) c.899-43G>T (n.899-43G>T) | gnomAD v4 |
2 | g.202530753C>A | CA2662706081 | BMPR2 | c.968-41C>A (n.968-41C>A) c.899-41C>A (n.899-41C>A) | gnomAD v4 |
2 | g.202530754C>G | CA2662706082 | BMPR2 | c.968-40C>G (n.968-40C>G) c.899-40C>G (n.899-40C>G) | gnomAD v4 |
2 | g.202530755C>A | CA1041346410 | BMPR2 | c.968-39C>A (n.968-39C>A) c.899-39C>A (n.899-39C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530755C= | CA1321544875 | BMPR2 | c.968-39C= (n.968-39C=) c.899-39C= (n.899-39C=) | |
2 | g.202530755C>G | CA2662706084 | BMPR2 | c.968-39C>G (n.968-39C>G) c.899-39C>G (n.899-39C>G) | gnomAD v4 |
2 | g.202530756T>C | CA2662706087 | BMPR2 | c.968-38T>C (n.968-38T>C) c.899-38T>C (n.899-38T>C) | gnomAD v4 |
2 | g.202530759del | CA2662706086 | BMPR2 | c.968-35del (n.968-35del) c.899-35del (n.899-35del) | gnomAD v4 |
2 | g.202530761T>C | CA2662706089 | BMPR2 | c.968-33T>C (n.968-33T>C) c.899-33T>C (n.899-33T>C) | dbSNP gnomAD v4 |
2 | g.202530762del | CA2662706088 | BMPR2 | c.968-32del (n.968-32del) c.899-32del (n.899-32del) | gnomAD v4 |
2 | g.202530762T>G | CA539387041 | BMPR2 | c.968-32T>G (n.968-32T>G) c.899-32T>G (n.899-32T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530762T= | CA1321544876 | BMPR2 | c.968-32T= (n.968-32T=) c.899-32T= (n.899-32T=) | |
2 | g.202530763C>A | CA2061265 | BMPR2 | c.968-31C>A (n.968-31C>A) c.899-31C>A (n.899-31C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530763C= | CA1321544877 | BMPR2 | c.968-31C= (n.968-31C=) c.899-31C= (n.899-31C=) | |
2 | g.202530763C>G | CA2662706096 | BMPR2 | c.968-31C>G (n.968-31C>G) c.899-31C>G (n.899-31C>G) | gnomAD v4 |
2 | g.202530763C>T | CA539387042 | BMPR2 | c.968-31C>T (n.968-31C>T) c.899-31C>T (n.899-31C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530764del | CA2662706097 | BMPR2 | c.968-30del (n.968-30del) c.899-30del (n.899-30del) | gnomAD v4 |
2 | g.202530765T>C | CA64023281 | BMPR2 | c.968-29T>C (n.968-29T>C) c.899-29T>C (n.899-29T>C) | dbSNP |
2 | g.202530765T= | CA1321544878 | BMPR2 | c.968-29T= (n.968-29T=) c.899-29T= (n.899-29T=) | |
2 | g.202530766T>C | CA2662706099 | BMPR2 | c.968-28T>C (n.968-28T>C) c.899-28T>C (n.899-28T>C) | gnomAD v4 |
2 | g.202530767G>T | CA2662706101 | BMPR2 | c.968-27G>T (n.968-27G>T) c.899-27G>T (n.899-27G>T) | gnomAD v4 |
2 | g.202530768A>G | CA2662706102 | BMPR2 | c.968-26A>G (n.968-26A>G) c.899-26A>G (n.899-26A>G) | gnomAD v4 |
2 | g.202530769_202530770delinsTA | CA1321544879 | BMPR2 | c.968-25_968-24delinsTA (n.968-25_968-24delinsTA) c.899-25_899-24delinsTA (n.899-25_899-24delinsTA) | |
2 | g.202530772del | CA763433319 | BMPR2 | c.968-22del (n.968-22del) c.899-22del (n.899-22del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530771A>C | CA2577215644 | BMPR2 | c.968-23A>C (n.968-23A>C) c.899-23A>C (n.899-23A>C) | |
2 | g.202530773T>C | CA2662706103 | BMPR2 | c.968-21T>C (n.968-21T>C) c.899-21T>C (n.899-21T>C) | gnomAD v4 |
2 | g.202530773_202530791delinsTATTTGAAATTATCCAAAC | CA1321544880 | BMPR2 | c.968-21_968-3delinsTATTTGAAATTATCCAAAC (n.968-21_968-3delinsTATTTGAAATTATCCAAAC) c.899-21_899-3delinsTATTTGAAATTATCCAAAC (n.899-21_899-3delinsTATTTGAAATTATCCAAAC) | |
2 | g.202530775_202530792del | CA2061266 | BMPR2 | c.968-19_968-2del (n.968-19_968-2del) c.899-19_899-2del (n.899-19_899-2del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530775T>C | CA2662706107 | BMPR2 | c.968-19T>C (n.968-19T>C) c.899-19T>C (n.899-19T>C) | gnomAD v4 |
2 | g.202530776T>C | CA2061267 | BMPR2 | c.968-18T>C (n.968-18T>C) c.899-18T>C (n.899-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530776T= | CA1321544881 | BMPR2 | c.968-18T= (n.968-18T=) c.899-18T= (n.899-18T=) | |
2 | g.202530777T>C | CA2662706109 | BMPR2 | c.968-17T>C (n.968-17T>C) c.899-17T>C (n.899-17T>C) | gnomAD v4 |
2 | g.202530778G>T | CA2662706110 | BMPR2 | c.968-16G>T (n.968-16G>T) c.899-16G>T (n.899-16G>T) | gnomAD v4 |
2 | g.202530779A>G | CA2662706111 | BMPR2 | c.968-15A>G (n.968-15A>G) c.899-15A>G (n.899-15A>G) | gnomAD v4 |
2 | g.202530782T>G | CA2586965552 | BMPR2 | c.968-12T>G (n.968-12T>G) c.899-12T>G (n.899-12T>G) | |
2 | g.202530786C>A | CA2662706112 | BMPR2 | c.968-8C>A (n.968-8C>A) c.899-8C>A (n.899-8C>A) | gnomAD v4 |
2 | g.202530787C>A | CA645532632 | BMPR2 | c.968-7C>A (n.968-7C>A) c.899-7C>A (n.899-7C>A) | COSMIC |
2 | g.202530787C= | CA1321544882 | BMPR2 | c.968-7C= (n.968-7C=) c.899-7C= (n.899-7C=) | |
2 | g.202530787C>T | CA539387043 | BMPR2 | c.968-7C>T (n.968-7C>T) c.899-7C>T (n.899-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530789_202530792del | CA2662706114 | BMPR2 | c.968-5_968-2del (n.968-5_968-2del) c.899-5_899-2del (n.899-5_899-2del) | gnomAD v4 |
2 | g.202530788A>T | CA2662706119 | BMPR2 | c.968-6A>T (n.968-6A>T) c.899-6A>T (n.899-6A>T) | gnomAD v4 |
2 | g.202530789A= | CA1321544883 | BMPR2 | c.968-5A= (n.968-5A=) c.899-5A= (n.899-5A=) | |
2 | g.202530789A>G | CA16610662 | BMPR2 | c.968-5A>G (n.968-5A>G) c.899-5A>G (n.899-5A>G) | ClinVar dbSNP |
2 | g.202530790A= | CA1321544884 | BMPR2 | c.968-4A= (n.968-4A=) c.899-4A= (n.899-4A=) | |
2 | g.202530790A>G | CA1041346411 | BMPR2 | c.968-4A>G (n.968-4A>G) c.899-4A>G (n.899-4A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530791C= | CA1321544885 | BMPR2 | c.968-3C= (n.968-3C=) c.899-3C= (n.899-3C=) | |
2 | g.202530791C>G | CA645293968 | BMPR2 | c.968-3C>G (n.968-3C>G) c.899-3C>G (n.899-3C>G) | ClinVar dbSNP |
2 | g.202530792A= | CA1321544886 | BMPR2 | c.968-2A= (n.968-2A=) c.899-2A= (n.899-2A=) | |
2 | g.202530792A>C | CA350341220 | BMPR2 | c.968-2A>C (n.968-2A>C) c.899-2A>C (n.899-2A>C) | ClinVar dbSNP |
2 | g.202530792A>G | CA350341221 | BMPR2 | c.968-2A>G (n.968-2A>G) c.899-2A>G (n.899-2A>G) | |
2 | g.202530792A>T | CA350341224 | BMPR2 | c.968-2A>T (n.968-2A>T) c.899-2A>T (n.899-2A>T) | |
2 | g.202530793G>A | CA350341227 | BMPR2 | c.968-1G>A (n.968-1G>A) c.899-1G>A (n.899-1G>A) | |
2 | g.202530793G>C | CA350341228 | BMPR2 | c.968-1G>C (n.968-1G>C) c.899-1G>C (n.899-1G>C) | |
2 | g.202530793G= | CA1321544887 | BMPR2 | c.968-1G= (n.968-1G=) c.899-1G= (n.899-1G=) | |
2 | g.202530793G>T | CA350341230 | BMPR2 | c.968-1G>T (n.968-1G>T) c.899-1G>T (n.899-1G>T) | ClinVar dbSNP |
2 | g.202530794A= | CA1321544888 | BMPR2 | c.968A= (p.Asp323=) c.899A= (p.Asp300=) | |
2 | g.202530794A>C | CA350341233 | BMPR2 | c.968A>C (p.Asp323Ala) c.899A>C (p.Asp300Ala) | |
2 | g.202530794A>G | CA350341236 | BMPR2 | c.968A>G (p.Asp323Gly) c.899A>G (p.Asp300Gly) | |
2 | g.202530794A>T | CA350341235 | BMPR2 | c.968A>T (p.Asp323Val) c.899A>T (p.Asp300Val) | |
2 | g.202530795T>A | CA350341239 | BMPR2 | c.969T>A (p.Asp323Glu) c.900T>A (p.Asp300Glu) | |
2 | g.202530795T>C | CA2061268 | BMPR2 | c.969T>C (p.Asp323=) c.900T>C (p.Asp300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530795T>G | CA350341241 | BMPR2 | c.969T>G (p.Asp323Glu) c.900T>G (p.Asp300Glu) | |
2 | g.202530795T= | CA1321544889 | BMPR2 | c.969T= (p.Asp323=) c.900T= (p.Asp300=) | |
2 | g.202530795dup | CA645293969 | BMPR2 | c.969dup (p.His324SerfsTer3) c.900dup (p.His301SerfsTer3) | ClinVar dbSNP |
2 | g.202530796C>A | CA350341244 | BMPR2 | c.970C>A (p.His324Asn) c.901C>A (p.His301Asn) | |
2 | g.202530796C>G | CA350341245 | BMPR2 | c.970C>G (p.His324Asp) c.901C>G (p.His301Asp) | |
2 | g.202530796C>T | CA350341247 | BMPR2 | c.970C>T (p.His324Tyr) c.901C>T (p.His301Tyr) | gnomAD v4 |
2 | g.202530797A= | CA1321544890 | BMPR2 | c.971A= (p.His324=) c.902A= (p.His301=) | |
2 | g.202530797A>C | CA350341250 | BMPR2 | c.971A>C (p.His324Pro) c.902A>C (p.His301Pro) | |
2 | g.202530797A>G | CA2061269 | BMPR2 | c.971A>G (p.His324Arg) c.902A>G (p.His301Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530797A>T | CA350341253 | BMPR2 | c.971A>T (p.His324Leu) c.902A>T (p.His301Leu) | |
2 | g.202530798T>A | CA350341255 | BMPR2 | c.972T>A (p.His324Gln) c.903T>A (p.His301Gln) | |
2 | g.202530798T>C | CA430847202 | BMPR2 | c.972T>C (p.His324=) c.903T>C (p.His301=) | |
2 | g.202530798T>G | CA350341256 | BMPR2 | c.972T>G (p.His324Gln) c.903T>G (p.His301Gln) | |
2 | g.202530799T>A | CA350341260 | BMPR2 | c.973T>A (p.Tyr325Asn) c.904T>A (p.Tyr302Asn) | |
2 | g.202530799T>C | CA350341262 | BMPR2 | c.973T>C (p.Tyr325His) c.904T>C (p.Tyr302His) | |
2 | g.202530799T>G | CA350341259 | BMPR2 | c.973T>G (p.Tyr325Asp) c.904T>G (p.Tyr302Asp) | |
2 | g.202530800A= | CA1321544891 | BMPR2 | c.974A= (p.Tyr325=) c.905A= (p.Tyr302=) | |
2 | g.202530800A>C | CA350341266 | BMPR2 | c.974A>C (p.Tyr325Ser) c.905A>C (p.Tyr302Ser) | |
2 | g.202530800A>G | CA350341265 | BMPR2 | c.974A>G (p.Tyr325Cys) c.905A>G (p.Tyr302Cys) | |
2 | g.202530800A>T | CA2061270 | BMPR2 | c.974A>T (p.Tyr325Phe) c.905A>T (p.Tyr302Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530801T>A | CA350341269 | BMPR2 | c.975T>A (p.Tyr325Ter) c.906T>A (p.Tyr302Ter) | |
2 | g.202530801T>C | CA430847226 | BMPR2 | c.975T>C (p.Tyr325=) c.906T>C (p.Tyr302=) | |
2 | g.202530801T>G | CA350341271 | BMPR2 | c.975T>G (p.Tyr325Ter) c.906T>G (p.Tyr302Ter) | |
2 | g.202530802A>C | CA350341274 | BMPR2 | c.976A>C (p.Lys326Gln) c.907A>C (p.Lys303Gln) | |
2 | g.202530802A>G | CA350341275 | BMPR2 | c.976A>G (p.Lys326Glu) c.907A>G (p.Lys303Glu) | |
2 | g.202530802A>T | CA350341277 | BMPR2 | c.976A>T (p.Lys326Ter) c.907A>T (p.Lys303Ter) | |
2 | g.202530804del | CA2580065460 | BMPR2 | c.978del (p.Lys326AsnfsTer9) c.909del (p.Lys303AsnfsTer9) | ClinVar |
2 | g.202530803A>C | CA350341280 | BMPR2 | c.977A>C (p.Lys326Thr) c.908A>C (p.Lys303Thr) | COSMIC |
2 | g.202530803A>G | CA350341281 | BMPR2 | c.977A>G (p.Lys326Arg) c.908A>G (p.Lys303Arg) | |
2 | g.202530803A>T | CA350341283 | BMPR2 | c.977A>T (p.Lys326Ile) c.908A>T (p.Lys303Ile) | |
2 | g.202530804A>C | CA350341286 | BMPR2 | c.978A>C (p.Lys326Asn) c.909A>C (p.Lys303Asn) | |
2 | g.202530804A>G | CA430847249 | BMPR2 | c.978A>G (p.Lys326=) c.909A>G (p.Lys303=) | |
2 | g.202530804A>T | CA350341288 | BMPR2 | c.978A>T (p.Lys326Asn) c.909A>T (p.Lys303Asn) | |
2 | g.202530804_202530805delinsAC | CA1321544892 | BMPR2 | c.978_979delinsAC (p.Lys326=) c.909_910delinsAC (p.Lys303=) | |
2 | g.202530805C>A | CA350341290 | BMPR2 | c.979C>A (p.Pro327Thr) c.910C>A (p.Pro304Thr) | |
2 | g.202530805C>G | CA350341292 | BMPR2 | c.979C>G (p.Pro327Ala) c.910C>G (p.Pro304Ala) | |
2 | g.202530805C>T | CA350341293 | BMPR2 | c.979C>T (p.Pro327Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
2 | g.202530806del | CA645293970 | BMPR2 | c.980del (p.Pro327LeufsTer8) c.911del (p.Pro304LeufsTer8) | ClinVar dbSNP |
2 | g.202530806C>A | CA350341299 | BMPR2 | c.980C>A (p.Pro327His) c.911C>A (p.Pro304His) | |
2 | g.202530806C>G | CA350341296 | BMPR2 | c.980C>G (p.Pro327Arg) c.911C>G (p.Pro304Arg) | |
2 | g.202530806C>T | CA350341298 | BMPR2 | c.980C>T (p.Pro327Leu) c.911C>T (p.Pro304Leu) | |
2 | g.202530807T>A | CA430847271 | BMPR2 | c.981T>A (p.Pro327=) c.912T>A (p.Pro304=) | |
2 | g.202530807T>C | CA2061271 | BMPR2 | c.981T>C (p.Pro327=) c.912T>C (p.Pro304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202530807T>G | CA430847268 | BMPR2 | c.981T>G (p.Pro327=) c.912T>G (p.Pro304=) | |
2 | g.202530807T= | CA1321544893 | BMPR2 | c.981T= (p.Pro327=) c.912T= (p.Pro304=) | |
2 | g.202530808G>A | CA350341300 | BMPR2 | c.982G>A (p.Ala328Thr) c.913G>A (p.Ala305Thr) | |
2 | g.202530808G>C | CA350341301 | BMPR2 | c.982G>C (p.Ala328Pro) c.913G>C (p.Ala305Pro) | |
2 | g.202530808G>T | CA350341302 | BMPR2 | c.982G>T (p.Ala328Ser) c.913G>T (p.Ala305Ser) | |
2 | g.202530809C>A | CA350341303 | BMPR2 | c.983C>A (p.Ala328Glu) c.914C>A (p.Ala305Glu) | |
2 | g.202530809C= | CA1321544894 | BMPR2 | c.983C= (p.Ala328=) c.914C= (p.Ala305=) | |
2 | g.202530809C>G | CA350341304 | BMPR2 | c.983C>G (p.Ala328Gly) c.914C>G (p.Ala305Gly) | |
2 | g.202530809C>T | CA64023300 | BMPR2 | c.983C>T (p.Ala328Val) c.914C>T (p.Ala305Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530810A= | CA1321544895 | BMPR2 | c.984A= (p.Ala328=) c.915A= (p.Ala305=) | |
2 | g.202530810A>C | CA2061272 | BMPR2 | c.984A>C (p.Ala328=) c.915A>C (p.Ala305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530810A>G | CA430847291 | BMPR2 | c.984A>G (p.Ala328=) c.915A>G (p.Ala305=) | |
2 | g.202530810A>T | CA430847296 | BMPR2 | c.984A>T (p.Ala328=) c.915A>T (p.Ala305=) | |
2 | g.202530811del | CA2739292324 | BMPR2 | c.985del (p.Ile329PhefsTer6) c.916del (p.Ile306PhefsTer6) | |
2 | g.202530811A= | CA1321544896 | BMPR2 | c.985A= (p.Ile329=) c.916A= (p.Ile306=) | |
2 | g.202530811A>C | CA350341305 | BMPR2 | c.985A>C (p.Ile329Leu) c.916A>C (p.Ile306Leu) | dbSNP gnomAD v4 |
2 | g.202530811A>G | CA350341306 | BMPR2 | c.985A>G (p.Ile329Val) c.916A>G (p.Ile306Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530811A>T | CA350341307 | BMPR2 | c.985A>T (p.Ile329Phe) c.916A>T (p.Ile306Phe) | |
2 | g.202530812T>A | CA350341310 | BMPR2 | c.986T>A (p.Ile329Asn) c.917T>A (p.Ile306Asn) | |
2 | g.202530812T>C | CA350341309 | BMPR2 | c.986T>C (p.Ile329Thr) c.917T>C (p.Ile306Thr) | gnomAD v4 |
2 | g.202530812T>G | CA350341308 | BMPR2 | c.986T>G (p.Ile329Ser) c.917T>G (p.Ile306Ser) |