Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
2 | g.202519368_202523159del | CA915941649 | BMPR2 | c.852+316_967+2958del c.783+316_898+2958del | ClinVar |
2 | g.202519956G>A | CA1321540142 | BMPR2 | c.853-131G>A (n.853-131G>A) c.784-131G>A (n.784-131G>A) | dbSNP gnomAD v4 |
2 | g.202519956G= | CA1321540141 | BMPR2 | c.853-131G= (n.853-131G=) c.784-131G= (n.784-131G=) | |
2 | g.202519956G>T | CA2662705728 | BMPR2 | c.853-131G>T (n.853-131G>T) c.784-131G>T (n.784-131G>T) | gnomAD v4 |
2 | g.202519957T>C | CA1321540144 | BMPR2 | c.853-130T>C (n.853-130T>C) c.784-130T>C (n.784-130T>C) | dbSNP gnomAD v4 |
2 | g.202519957T= | CA1321540143 | BMPR2 | c.853-130T= (n.853-130T=) c.784-130T= (n.784-130T=) | |
2 | g.202519958A= | CA1321540146 | BMPR2 | c.853-129A= (n.853-129A=) c.784-129A= (n.784-129A=) | |
2 | g.202519958A>G | CA1321540145 | BMPR2 | c.853-129A>G (n.853-129A>G) c.784-129A>G (n.784-129A>G) | dbSNP gnomAD v4 |
2 | g.202519958A>T | CA2662705729 | BMPR2 | c.853-129A>T (n.853-129A>T) c.784-129A>T (n.784-129A>T) | gnomAD v4 |
2 | g.202519960T>C | CA2662705730 | BMPR2 | c.853-127T>C (n.853-127T>C) c.784-127T>C (n.784-127T>C) | gnomAD v4 |
2 | g.202519961A= | CA1321540147 | BMPR2 | c.853-126A= (n.853-126A=) c.784-126A= (n.784-126A=) | |
2 | g.202519961A>C | CA539387055 | BMPR2 | c.853-126A>C (n.853-126A>C) c.784-126A>C (n.784-126A>C) | dbSNP gnomAD v2 |
2 | g.202519961A>G | CA763427056 | BMPR2 | c.853-126A>G (n.853-126A>G) c.784-126A>G (n.784-126A>G) | dbSNP |
2 | g.202519961A>T | CA1041341862 | BMPR2 | c.853-126A>T (n.853-126A>T) c.784-126A>T (n.784-126A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519962G>A | CA64016508 | BMPR2 | c.853-125G>A (n.853-125G>A) c.784-125G>A (n.784-125G>A) | dbSNP gnomAD v4 |
2 | g.202519962G= | CA1321540148 | BMPR2 | c.853-125G= (n.853-125G=) c.784-125G= (n.784-125G=) | |
2 | g.202519964T>C | CA2662705731 | BMPR2 | c.853-123T>C (n.853-123T>C) c.784-123T>C (n.784-123T>C) | gnomAD v4 |
2 | g.202519965C>A | CA2662705732 | BMPR2 | c.853-122C>A (n.853-122C>A) c.784-122C>A (n.784-122C>A) | gnomAD v4 |
2 | g.202519965C>T | CA2662705733 | BMPR2 | c.853-122C>T (n.853-122C>T) c.784-122C>T (n.784-122C>T) | gnomAD v4 |
2 | g.202519966A>T | CA2662705734 | BMPR2 | c.853-121A>T (n.853-121A>T) c.784-121A>T (n.784-121A>T) | gnomAD v4 |
2 | g.202519967T>A | CA2662705735 | BMPR2 | c.853-120T>A (n.853-120T>A) c.784-120T>A (n.784-120T>A) | gnomAD v4 |
2 | g.202519967T>C | CA2662705736 | BMPR2 | c.853-120T>C (n.853-120T>C) c.784-120T>C (n.784-120T>C) | gnomAD v4 |
2 | g.202519968T>C | CA2662705737 | BMPR2 | c.853-119T>C (n.853-119T>C) c.784-119T>C (n.784-119T>C) | gnomAD v4 |
2 | g.202519969A>G | CA2662705738 | BMPR2 | c.853-118A>G (n.853-118A>G) c.784-118A>G (n.784-118A>G) | gnomAD v4 |
2 | g.202519969A>T | CA2662705739 | BMPR2 | c.853-118A>T (n.853-118A>T) c.784-118A>T (n.784-118A>T) | gnomAD v4 |
2 | g.202519970G>A | CA1321540150 | BMPR2 | c.853-117G>A (n.853-117G>A) c.784-117G>A (n.784-117G>A) | dbSNP |
2 | g.202519970G= | CA1321540149 | BMPR2 | c.853-117G= (n.853-117G=) c.784-117G= (n.784-117G=) | |
2 | g.202519970G>T | CA2662705740 | BMPR2 | c.853-117G>T (n.853-117G>T) c.784-117G>T (n.784-117G>T) | gnomAD v4 |
2 | g.202519971A>C | CA2662705741 | BMPR2 | c.853-116A>C (n.853-116A>C) c.784-116A>C (n.784-116A>C) | gnomAD v4 |
2 | g.202519971A>T | CA2662705742 | BMPR2 | c.853-116A>T (n.853-116A>T) c.784-116A>T (n.784-116A>T) | gnomAD v4 |
2 | g.202519972T>A | CA2662705743 | BMPR2 | c.853-115T>A (n.853-115T>A) c.784-115T>A (n.784-115T>A) | gnomAD v4 |
2 | g.202519972T>C | CA2662705744 | BMPR2 | c.853-115T>C (n.853-115T>C) c.784-115T>C (n.784-115T>C) | gnomAD v4 |
2 | g.202519973C>A | CA2662705745 | BMPR2 | c.853-114C>A (n.853-114C>A) c.784-114C>A (n.784-114C>A) | gnomAD v4 |
2 | g.202519973C>T | CA2662705746 | BMPR2 | c.853-114C>T (n.853-114C>T) c.784-114C>T (n.784-114C>T) | gnomAD v4 |
2 | g.202519974T>C | CA2662705747 | BMPR2 | c.853-113T>C (n.853-113T>C) c.784-113T>C (n.784-113T>C) | gnomAD v4 |
2 | g.202519974T>G | CA2662705748 | BMPR2 | c.853-113T>G (n.853-113T>G) c.784-113T>G (n.784-113T>G) | gnomAD v4 |
2 | g.202519975T>C | CA2662705749 | BMPR2 | c.853-112T>C (n.853-112T>C) c.784-112T>C (n.784-112T>C) | gnomAD v4 |
2 | g.202519976C>A | CA2662705750 | BMPR2 | c.853-111C>A (n.853-111C>A) c.784-111C>A (n.784-111C>A) | gnomAD v4 |
2 | g.202519976C>T | CA2662705751 | BMPR2 | c.853-111C>T (n.853-111C>T) c.784-111C>T (n.784-111C>T) | gnomAD v4 |
2 | g.202519977A= | CA1321540151 | BMPR2 | c.853-110A= (n.853-110A=) c.784-110A= (n.784-110A=) | |
2 | g.202519977A>G | CA2662705752 | BMPR2 | c.853-110A>G (n.853-110A>G) c.784-110A>G (n.784-110A>G) | gnomAD v4 |
2 | g.202519977A>T | CA1041341863 | BMPR2 | c.853-110A>T (n.853-110A>T) c.784-110A>T (n.784-110A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519978T>A | CA2662705753 | BMPR2 | c.853-109T>A (n.853-109T>A) c.784-109T>A (n.784-109T>A) | gnomAD v4 |
2 | g.202519978T>C | CA64016520 | BMPR2 | c.853-109T>C (n.853-109T>C) c.784-109T>C (n.784-109T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519978T= | CA1321540152 | BMPR2 | c.853-109T= (n.853-109T=) c.784-109T= (n.784-109T=) | |
2 | g.202519979G>T | CA2662705754 | BMPR2 | c.853-108G>T (n.853-108G>T) c.784-108G>T (n.784-108G>T) | gnomAD v4 |
2 | g.202519980del | CA2662705755 | BMPR2 | c.853-107del (n.853-107del) c.784-107del (n.784-107del) | gnomAD v4 |
2 | g.202519981A>G | CA2662705756 | BMPR2 | c.853-106A>G (n.853-106A>G) c.784-106A>G (n.784-106A>G) | gnomAD v4 |
2 | g.202519982A>C | CA2662705757 | BMPR2 | c.853-105A>C (n.853-105A>C) c.784-105A>C (n.784-105A>C) | gnomAD v4 |
2 | g.202519984C>A | CA2662705758 | BMPR2 | c.853-103C>A (n.853-103C>A) c.784-103C>A (n.784-103C>A) | gnomAD v4 |
2 | g.202519985C>A | CA2662705759 | BMPR2 | c.853-102C>A (n.853-102C>A) c.784-102C>A (n.784-102C>A) | gnomAD v4 |
2 | g.202519985C= | CA1321540153 | BMPR2 | c.853-102C= (n.853-102C=) c.784-102C= (n.784-102C=) | |
2 | g.202519985C>G | CA539387056 | BMPR2 | c.853-102C>G (n.853-102C>G) c.784-102C>G (n.784-102C>G) | dbSNP gnomAD v2 |
2 | g.202519985C>T | CA2662705760 | BMPR2 | c.853-102C>T (n.853-102C>T) c.784-102C>T (n.784-102C>T) | gnomAD v4 |
2 | g.202519986T>A | CA2662705761 | BMPR2 | c.853-101T>A (n.853-101T>A) c.784-101T>A (n.784-101T>A) | gnomAD v4 |
2 | g.202519988G>A | CA2662705762 | BMPR2 | c.853-99G>A (n.853-99G>A) c.784-99G>A (n.784-99G>A) | gnomAD v4 |
2 | g.202519989C>A | CA539387057 | BMPR2 | c.853-98C>A (n.853-98C>A) c.784-98C>A (n.784-98C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519989C= | CA1321540154 | BMPR2 | c.853-98C= (n.853-98C=) c.784-98C= (n.784-98C=) | |
2 | g.202519989C>G | CA64016524 | BMPR2 | c.853-98C>G (n.853-98C>G) c.784-98C>G (n.784-98C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519990C= | CA1321540155 | BMPR2 | c.853-97C= (n.853-97C=) c.784-97C= (n.784-97C=) | |
2 | g.202519990C>G | CA763427070 | BMPR2 | c.853-97C>G (n.853-97C>G) c.784-97C>G (n.784-97C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519991T>C | CA64016530 | BMPR2 | c.853-96T>C (n.853-96T>C) c.784-96T>C (n.784-96T>C) | dbSNP |
2 | g.202519991T= | CA1321540156 | BMPR2 | c.853-96T= (n.853-96T=) c.784-96T= (n.784-96T=) | |
2 | g.202519992A= | CA1321540157 | BMPR2 | c.853-95A= (n.853-95A=) c.784-95A= (n.784-95A=) | |
2 | g.202519992A>C | CA2662705763 | BMPR2 | c.853-95A>C (n.853-95A>C) c.784-95A>C (n.784-95A>C) | gnomAD v4 |
2 | g.202519992A>G | CA1321540158 | BMPR2 | c.853-95A>G (n.853-95A>G) c.784-95A>G (n.784-95A>G) | dbSNP |
2 | g.202519993T>C | CA2662705764 | BMPR2 | c.853-94T>C (n.853-94T>C) c.784-94T>C (n.784-94T>C) | gnomAD v4 |
2 | g.202519994T>C | CA763427076 | BMPR2 | c.853-93T>C (n.853-93T>C) c.784-93T>C (n.784-93T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519994T= | CA1321540159 | BMPR2 | c.853-93T= (n.853-93T=) c.784-93T= (n.784-93T=) | |
2 | g.202519995T>C | CA2662705765 | BMPR2 | c.853-92T>C (n.853-92T>C) c.784-92T>C (n.784-92T>C) | gnomAD v4 |
2 | g.202519996G>A | CA2662705766 | BMPR2 | c.853-91G>A (n.853-91G>A) c.784-91G>A (n.784-91G>A) | gnomAD v4 |
2 | g.202519996G= | CA1321540160 | BMPR2 | c.853-91G= (n.853-91G=) c.784-91G= (n.784-91G=) | |
2 | g.202519996G>T | CA1321540161 | BMPR2 | c.853-91G>T (n.853-91G>T) c.784-91G>T (n.784-91G>T) | dbSNP gnomAD v4 |
2 | g.202519997C>A | CA2662705767 | BMPR2 | c.853-90C>A (n.853-90C>A) c.784-90C>A (n.784-90C>A) | gnomAD v4 |
2 | g.202519997C>T | CA2662705768 | BMPR2 | c.853-90C>T (n.853-90C>T) c.784-90C>T (n.784-90C>T) | gnomAD v4 |
2 | g.202519997_202519998delinsCA | CA1321540162 | BMPR2 | c.853-90_853-89delinsCA (n.853-90_853-89delinsCA) c.784-90_784-89delinsCA (n.784-90_784-89delinsCA) | |
2 | g.202519998A>T | CA2662705769 | BMPR2 | c.853-89A>T (n.853-89A>T) c.784-89A>T (n.784-89A>T) | gnomAD v4 |
2 | g.202520000del | CA1321540163 | BMPR2 | c.853-87del (n.853-87del) c.784-87del (n.784-87del) | dbSNP |
2 | g.202519999A>C | CA2662705770 | BMPR2 | c.853-88A>C (n.853-88A>C) c.784-88A>C (n.784-88A>C) | gnomAD v4 |
2 | g.202520001T>G | CA2662705771 | BMPR2 | c.853-86T>G (n.853-86T>G) c.784-86T>G (n.784-86T>G) | gnomAD v4 |
2 | g.202520002T>G | CA1321540164 | BMPR2 | c.853-85T>G (n.853-85T>G) c.784-85T>G (n.784-85T>G) | dbSNP |
2 | g.202520002T= | CA1321540165 | BMPR2 | c.853-85T= (n.853-85T=) c.784-85T= (n.784-85T=) | |
2 | g.202520003C>A | CA2530698371 | BMPR2 | c.853-84C>A (n.853-84C>A) c.784-84C>A (n.784-84C>A) | gnomAD v4 |
2 | g.202520003C= | CA1321540166 | BMPR2 | c.853-84C= (n.853-84C=) c.784-84C= (n.784-84C=) | |
2 | g.202520003C>G | CA539387058 | BMPR2 | c.853-84C>G (n.853-84C>G) c.784-84C>G (n.784-84C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520003C>T | CA2662705772 | BMPR2 | c.853-84C>T (n.853-84C>T) c.784-84C>T (n.784-84C>T) | gnomAD v4 |
2 | g.202520006T>C | CA2662705773 | BMPR2 | c.853-81T>C (n.853-81T>C) c.784-81T>C (n.784-81T>C) | gnomAD v4 |
2 | g.202520007A>T | CA2662705774 | BMPR2 | c.853-80A>T (n.853-80A>T) c.784-80A>T (n.784-80A>T) | gnomAD v4 |
2 | g.202520008T>C | CA2662705775 | BMPR2 | c.853-79T>C (n.853-79T>C) c.784-79T>C (n.784-79T>C) | gnomAD v4 |
2 | g.202520009A>G | CA2753905724 | BMPR2 | c.853-78A>G (n.853-78A>G) c.784-78A>G (n.784-78A>G) | |
2 | g.202520009A>T | CA2662705777 | BMPR2 | c.853-78A>T (n.853-78A>T) c.784-78A>T (n.784-78A>T) | gnomAD v4 |
2 | g.202520010del | CA2662705776 | BMPR2 | c.853-77del (n.853-77del) c.784-77del (n.784-77del) | gnomAD v4 |
2 | g.202520011G>A | CA2577215606 | BMPR2 | c.853-76G>A (n.853-76G>A) c.784-76G>A (n.784-76G>A) | gnomAD v4 |
2 | g.202520011G>T | CA2662705778 | BMPR2 | c.853-76G>T (n.853-76G>T) c.784-76G>T (n.784-76G>T) | gnomAD v4 |
2 | g.202520012G>T | CA2662705779 | BMPR2 | c.853-75G>T (n.853-75G>T) c.784-75G>T (n.784-75G>T) | gnomAD v4 |
2 | g.202520013A>G | CA2662705780 | BMPR2 | c.853-74A>G (n.853-74A>G) c.784-74A>G (n.784-74A>G) | gnomAD v4 |
2 | g.202520013A>T | CA2662705781 | BMPR2 | c.853-74A>T (n.853-74A>T) c.784-74A>T (n.784-74A>T) | gnomAD v4 |
2 | g.202520014T>C | CA2662705782 | BMPR2 | c.853-73T>C (n.853-73T>C) c.784-73T>C (n.784-73T>C) | gnomAD v4 |
2 | g.202520015G>A | CA2662705783 | BMPR2 | c.853-72G>A (n.853-72G>A) c.784-72G>A (n.784-72G>A) | gnomAD v4 |
2 | g.202520015G>C | CA763427078 | BMPR2 | c.853-72G>C (n.853-72G>C) c.784-72G>C (n.784-72G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520015G= | CA1321540167 | BMPR2 | c.853-72G= (n.853-72G=) c.784-72G= (n.784-72G=) | |
2 | g.202520015G>T | CA2662705784 | BMPR2 | c.853-72G>T (n.853-72G>T) c.784-72G>T (n.784-72G>T) | gnomAD v4 |
2 | g.202520016del | CA2516412861 | BMPR2 | c.853-71del (n.853-71del) c.784-71del (n.784-71del) | |
2 | g.202520016C>A | CA2662705785 | BMPR2 | c.853-71C>A (n.853-71C>A) c.784-71C>A (n.784-71C>A) | gnomAD v4 |
2 | g.202520016C>T | CA2662705786 | BMPR2 | c.853-71C>T (n.853-71C>T) c.784-71C>T (n.784-71C>T) | gnomAD v4 |
2 | g.202520017T>A | CA2548161397 | BMPR2 | c.853-70T>A (n.853-70T>A) c.784-70T>A (n.784-70T>A) | |
2 | g.202520017T>C | CA763427081 | BMPR2 | c.853-70T>C (n.853-70T>C) c.784-70T>C (n.784-70T>C) | dbSNP gnomAD v4 |
2 | g.202520017T= | CA1321540168 | BMPR2 | c.853-70T= (n.853-70T=) c.784-70T= (n.784-70T=) | |
2 | g.202520018A>G | CA2662705787 | BMPR2 | c.853-69A>G (n.853-69A>G) c.784-69A>G (n.784-69A>G) | gnomAD v4 |
2 | g.202520018A>T | CA2662705788 | BMPR2 | c.853-69A>T (n.853-69A>T) c.784-69A>T (n.784-69A>T) | gnomAD v4 |
2 | g.202520019_202520020delinsAT | CA1321540169 | BMPR2 | c.853-68_853-67delinsAT (n.853-68_853-67delinsAT) c.784-68_784-67delinsAT (n.784-68_784-67delinsAT) | |
2 | g.202520020T>A | CA2513038169 | BMPR2 | c.853-67T>A (n.853-67T>A) c.784-67T>A (n.784-67T>A) | |
2 | g.202520020T>C | CA64016539 | BMPR2 | c.853-67T>C (n.853-67T>C) c.784-67T>C (n.784-67T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520020T= | CA1321540170 | BMPR2 | c.853-67T= (n.853-67T=) c.784-67T= (n.784-67T=) | |
2 | g.202520022del | CA763427088 | BMPR2 | c.853-65del (n.853-65del) c.784-65del (n.784-65del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520022T>A | CA2662705789 | BMPR2 | c.853-65T>A (n.853-65T>A) c.784-65T>A (n.784-65T>A) | gnomAD v4 |
2 | g.202520022T>C | CA2701464579 | BMPR2 | c.853-65T>C (n.853-65T>C) c.784-65T>C (n.784-65T>C) | dbSNP |
2 | g.202520023A>T | CA2662705790 | BMPR2 | c.853-64A>T (n.853-64A>T) c.784-64A>T (n.784-64A>T) | gnomAD v4 |
2 | g.202520024C>A | CA2577215607 | BMPR2 | c.853-63C>A (n.853-63C>A) c.784-63C>A (n.784-63C>A) | gnomAD v4 |
2 | g.202520024C>T | CA2662705791 | BMPR2 | c.853-63C>T (n.853-63C>T) c.784-63C>T (n.784-63C>T) | gnomAD v4 |
2 | g.202520024_202520027delinsCTCT | CA1321540171 | BMPR2 | c.853-63_853-60delinsCTCT (n.853-63_853-60delinsCTCT) c.784-63_784-60delinsCTCT (n.784-63_784-60delinsCTCT) | |
2 | g.202520027_202520029del | CA1321540172 | BMPR2 | c.853-60_853-58del (n.853-60_853-58del) c.784-60_784-58del (n.784-60_784-58del) | dbSNP gnomAD v4 |
2 | g.202520026C>A | CA2662705792 | BMPR2 | c.853-61C>A (n.853-61C>A) c.784-61C>A (n.784-61C>A) | gnomAD v4 |
2 | g.202520027T>C | CA1321540174 | BMPR2 | c.853-60T>C (n.853-60T>C) c.784-60T>C (n.784-60T>C) | dbSNP |
2 | g.202520027T>G | CA763427092 | BMPR2 | c.853-60T>G (n.853-60T>G) c.784-60T>G (n.784-60T>G) | dbSNP |
2 | g.202520027T= | CA1321540173 | BMPR2 | c.853-60T= (n.853-60T=) c.784-60T= (n.784-60T=) | |
2 | g.202520028_202520034del | CA2662705793 | BMPR2 | c.853-59_853-53del (n.853-59_853-53del) c.784-59_784-53del (n.784-59_784-53del) | gnomAD v4 |
2 | g.202520028T>C | CA1321540175 | BMPR2 | c.853-59T>C (n.853-59T>C) c.784-59T>C (n.784-59T>C) | dbSNP gnomAD v4 |
2 | g.202520028T= | CA1321540176 | BMPR2 | c.853-59T= (n.853-59T=) c.784-59T= (n.784-59T=) | |
2 | g.202520029C>A | CA2662705794 | BMPR2 | c.853-58C>A (n.853-58C>A) c.784-58C>A (n.784-58C>A) | gnomAD v4 |
2 | g.202520029C>T | CA2753905726 | BMPR2 | c.853-58C>T (n.853-58C>T) c.784-58C>T (n.784-58C>T) | |
2 | g.202520031T>C | CA2753905727 | BMPR2 | c.853-56T>C (n.853-56T>C) c.784-56T>C (n.784-56T>C) | |
2 | g.202520032G= | CA1321540177 | BMPR2 | c.853-55G= (n.853-55G=) c.784-55G= (n.784-55G=) | |
2 | g.202520032G>T | CA1041341880 | BMPR2 | c.853-55G>T (n.853-55G>T) c.784-55G>T (n.784-55G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520033T>G | CA2662705795 | BMPR2 | c.853-54T>G (n.853-54T>G) c.784-54T>G (n.784-54T>G) | gnomAD v4 |
2 | g.202520035A>T | CA2577215608 | BMPR2 | c.853-52A>T (n.853-52A>T) c.784-52A>T (n.784-52A>T) | gnomAD v4 |
2 | g.202520036A= | CA1321540178 | BMPR2 | c.853-51A= (n.853-51A=) c.784-51A= (n.784-51A=) | |
2 | g.202520036A>C | CA539387059 | BMPR2 | c.853-51A>C (n.853-51A>C) c.784-51A>C (n.784-51A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520038G>A | CA1321540180 | BMPR2 | c.853-49G>A (n.853-49G>A) c.784-49G>A (n.784-49G>A) | dbSNP gnomAD v4 |
2 | g.202520038G= | CA1321540179 | BMPR2 | c.853-49G= (n.853-49G=) c.784-49G= (n.784-49G=) | |
2 | g.202520038G>T | CA1041341881 | BMPR2 | c.853-49G>T (n.853-49G>T) c.784-49G>T (n.784-49G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520040G>T | CA2662705796 | BMPR2 | c.853-47G>T (n.853-47G>T) c.784-47G>T (n.784-47G>T) | gnomAD v4 |
2 | g.202520041A>G | CA2662705797 | BMPR2 | c.853-46A>G (n.853-46A>G) c.784-46A>G (n.784-46A>G) | gnomAD v4 |
2 | g.202520041A>T | CA2662705798 | BMPR2 | c.853-46A>T (n.853-46A>T) c.784-46A>T (n.784-46A>T) | gnomAD v4 |
2 | g.202520042G>T | CA2662705799 | BMPR2 | c.853-45G>T (n.853-45G>T) c.784-45G>T (n.784-45G>T) | gnomAD v4 |
2 | g.202520043T>C | CA2662705800 | BMPR2 | c.853-44T>C (n.853-44T>C) c.784-44T>C (n.784-44T>C) | gnomAD v4 |
2 | g.202520044T>C | CA647681727 | BMPR2 | c.853-43T>C (n.853-43T>C) c.784-43T>C (n.784-43T>C) | gnomAD v4 COSMIC |
2 | g.202520044T>G | CA2662705801 | BMPR2 | c.853-43T>G (n.853-43T>G) c.784-43T>G (n.784-43T>G) | gnomAD v4 |
2 | g.202520045A>C | CA2662705802 | BMPR2 | c.853-42A>C (n.853-42A>C) c.784-42A>C (n.784-42A>C) | gnomAD v4 |
2 | g.202520045A>T | CA2577215609 | BMPR2 | c.853-42A>T (n.853-42A>T) c.784-42A>T (n.784-42A>T) | gnomAD v4 |
2 | g.202520046A>G | CA2662705803 | BMPR2 | c.853-41A>G (n.853-41A>G) c.784-41A>G (n.784-41A>G) | gnomAD v4 |
2 | g.202520046A>T | CA1041341883 | BMPR2 | c.853-41A>T (n.853-41A>T) c.784-41A>T (n.784-41A>T) | gnomAD v3 gnomAD v4 |
2 | g.202520047T>A | CA2662705805 | BMPR2 | c.853-40T>A (n.853-40T>A) c.784-40T>A (n.784-40T>A) | gnomAD v4 |
2 | g.202520047T>G | CA2662705804 | BMPR2 | c.853-40T>G (n.853-40T>G) c.784-40T>G (n.784-40T>G) | gnomAD v4 |
2 | g.202520048T>A | CA539387060 | BMPR2 | c.853-39T>A (n.853-39T>A) c.784-39T>A (n.784-39T>A) | dbSNP gnomAD v2 |
2 | g.202520048T>G | CA2538758039 | BMPR2 | c.853-39T>G (n.853-39T>G) c.784-39T>G (n.784-39T>G) | |
2 | g.202520048T= | CA1321540181 | BMPR2 | c.853-39T= (n.853-39T=) c.784-39T= (n.784-39T=) | |
2 | g.202520049_202520050del | CA2662705806 | BMPR2 | c.853-38_853-37del (n.853-38_853-37del) c.784-38_784-37del (n.784-38_784-37del) | gnomAD v4 |
2 | g.202520049C>A | CA2662705807 | BMPR2 | c.853-38C>A (n.853-38C>A) c.784-38C>A (n.784-38C>A) | gnomAD v4 |
2 | g.202520049C>T | CA2662705808 | BMPR2 | c.853-38C>T (n.853-38C>T) c.784-38C>T (n.784-38C>T) | gnomAD v4 |
2 | g.202520050T>G | CA2662705809 | BMPR2 | c.853-37T>G (n.853-37T>G) c.784-37T>G (n.784-37T>G) | gnomAD v4 |
2 | g.202520051A= | CA1321540182 | BMPR2 | c.853-36A= (n.853-36A=) c.784-36A= (n.784-36A=) | |
2 | g.202520051A>C | CA539387061 | BMPR2 | c.853-36A>C (n.853-36A>C) c.784-36A>C (n.784-36A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520051A>T | CA539387062 | BMPR2 | c.853-36A>T (n.853-36A>T) c.784-36A>T (n.784-36A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520051dup | CA2662705811 | BMPR2 | c.853-36dup (n.853-36dup) c.784-36dup (n.784-36dup) | gnomAD v4 |
2 | g.202520052C>A | CA539387064 | BMPR2 | c.853-35C>A (n.853-35C>A) c.784-35C>A (n.784-35C>A) | gnomAD v2 gnomAD v4 |
2 | g.202520052C= | CA1321540183 | BMPR2 | c.853-35C= (n.853-35C=) c.784-35C= (n.784-35C=) | |
2 | g.202520053dup | CA539387063 | BMPR2 | c.853-34dup (n.853-34dup) c.784-34dup (n.784-34dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520052_202520053insA | CA2753905729 | BMPR2 | c.853-35_853-34insA (n.853-35_853-34insA) c.784-35_784-34insA (n.784-35_784-34insA) | |
2 | g.202520052_202520053insT | CA539387065 | BMPR2 | c.853-35_853-34insT (n.853-35_853-34insT) c.784-35_784-34insT (n.784-35_784-34insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520052_202520053insTT | CA1041341892 | BMPR2 | c.853-35_853-34insTT (n.853-35_853-34insTT) c.784-35_784-34insTT (n.784-35_784-34insTT) | gnomAD v3 gnomAD v4 |
2 | g.202520053C= | CA1321540184 | BMPR2 | c.853-34C= (n.853-34C=) c.784-34C= (n.784-34C=) | |
2 | g.202520053C>T | CA763427115 | BMPR2 | c.853-34C>T (n.853-34C>T) c.784-34C>T (n.784-34C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520053_202520055delinsCTT | CA1321540185 | BMPR2 | c.853-34_853-32delinsCTT (n.853-34_853-32delinsCTT) c.784-34_784-32delinsCTT (n.784-34_784-32delinsCTT) | |
2 | g.202520053_202520054insG | CA1321540186 | BMPR2 | c.853-34_853-33insG (n.853-34_853-33insG) c.784-34_784-33insG (n.784-34_784-33insG) | dbSNP |
2 | g.202520053_202520054insAT | CA2662705820 | BMPR2 | c.853-34_853-33insAT (n.853-34_853-33insAT) c.784-34_784-33insAT (n.784-34_784-33insAT) | gnomAD v4 |
2 | g.202520053_202520054insCT | CA2607240802 | BMPR2 | c.853-34_853-33insCT (n.853-34_853-33insCT) c.784-34_784-33insCT (n.784-34_784-33insCT) | gnomAD v3 gnomAD v4 |
2 | g.202520053_202520054insGT | CA2577215612 | BMPR2 | c.853-34_853-33insGT (n.853-34_853-33insGT) c.784-34_784-33insGT (n.784-34_784-33insGT) | |
2 | g.202520053_202520054insCTTT | CA2662705814 | BMPR2 | c.853-34_853-33insCTTT (n.853-34_853-33insCTTT) c.784-34_784-33insCTTT (n.784-34_784-33insCTTT) | gnomAD v4 |
2 | g.202520054T>C | CA2577215610 | BMPR2 | c.853-33T>C (n.853-33T>C) c.784-33T>C (n.784-33T>C) | gnomAD v4 |
2 | g.202520065_202520066insTTTTTTTTTTTTTTTTTTTTTTTT | CA2662705817 | BMPR2 | c.853-22_853-21insTTTTTTTTTTTTTTTTTTTTTTTT (n.853-22_853-21insTTTTTTTTTTTTTTTTTTTTTTTT) c.784-22_784-21insTTTTTTTTTTTTTTTTTTTTTTTT (n.784-22_784-21insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
2 | g.202520065dup | CA2061223 | BMPR2 | c.853-22dup (n.853-22dup) c.784-22dup (n.784-22dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520064_202520065dup | CA2061224 | BMPR2 | c.853-23_853-22dup (n.853-23_853-22dup) c.784-23_784-22dup (n.784-23_784-22dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520063_202520065dup | CA2061225 | BMPR2 | c.853-24_853-22dup (n.853-24_853-22dup) c.784-24_784-22dup (n.784-24_784-22dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520062_202520065dup | CA539387066 | BMPR2 | c.853-25_853-22dup (n.853-25_853-22dup) c.784-25_784-22dup (n.784-25_784-22dup) | gnomAD v2 gnomAD v4 |
2 | g.202520061_202520065dup | CA2662705819 | BMPR2 | c.853-26_853-22dup (n.853-26_853-22dup) c.784-26_784-22dup (n.784-26_784-22dup) | gnomAD v4 |
2 | g.202520060_202520065dup | CA2662705818 | BMPR2 | c.853-27_853-22dup (n.853-27_853-22dup) c.784-27_784-22dup (n.784-27_784-22dup) | gnomAD v4 |
2 | g.202520065del | CA2061226 | BMPR2 | c.853-22del (n.853-22del) c.784-22del (n.784-22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520064_202520065del | CA2061227 | BMPR2 | c.853-23_853-22del (n.853-23_853-22del) c.784-23_784-22del (n.784-23_784-22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520063_202520065del | CA2662705815 | BMPR2 | c.853-24_853-22del (n.853-24_853-22del) c.784-24_784-22del (n.784-24_784-22del) | gnomAD v4 |
2 | g.202520062_202520065del | CA2577215611 | BMPR2 | c.853-25_853-22del (n.853-25_853-22del) c.784-25_784-22del (n.784-25_784-22del) | |
2 | g.202520055T>C | CA2512772745 | BMPR2 | c.853-32T>C (n.853-32T>C) c.784-32T>C (n.784-32T>C) | |
2 | g.202520064_202520065insCTTTTTTTTTT | CA2753905639 | BMPR2 | c.853-23_853-22insCTTTTTTTTTT (n.853-23_853-22insCTTTTTTTTTT) c.784-23_784-22insCTTTTTTTTTT (n.784-23_784-22insCTTTTTTTTTT) |