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.202519758_202519771delinsTATAATTTGTATTC | CA1321540056 | BMPR2 | c.853-329_853-316delinsTATAATTTGTATTC (n.853-329_853-316delinsTATAATTTGTATTC) c.784-329_784-316delinsTATAATTTGTATTC (n.784-329_784-316delinsTATAATTTGTATTC) | |
2 | g.202519762_202519774del | CA1321540057 | BMPR2 | c.853-325_853-313del (n.853-325_853-313del) c.784-325_784-313del (n.784-325_784-313del) | dbSNP |
2 | g.202519766G= | CA1321540060 | BMPR2 | c.853-321G= (n.853-321G=) c.784-321G= (n.784-321G=) | |
2 | g.202519766G>T | CA1321540061 | BMPR2 | c.853-321G>T (n.853-321G>T) c.784-321G>T (n.784-321G>T) | dbSNP |
2 | g.202519769T>G | CA64016377 | BMPR2 | c.853-318T>G (n.853-318T>G) c.784-318T>G (n.784-318T>G) | dbSNP |
2 | g.202519769T= | CA1321540062 | BMPR2 | c.853-318T= (n.853-318T=) c.784-318T= (n.784-318T=) | |
2 | g.202519770T>C | CA1321540064 | BMPR2 | c.853-317T>C (n.853-317T>C) c.784-317T>C (n.784-317T>C) | dbSNP |
2 | g.202519770T= | CA1321540063 | BMPR2 | c.853-317T= (n.853-317T=) c.784-317T= (n.784-317T=) | |
2 | g.202519772A= | CA1321540065 | BMPR2 | c.853-315A= (n.853-315A=) c.784-315A= (n.784-315A=) | |
2 | g.202519772A>C | CA1041341809 | BMPR2 | c.853-315A>C (n.853-315A>C) c.784-315A>C (n.784-315A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519774A= | CA1321540066 | BMPR2 | c.853-313A= (n.853-313A=) c.784-313A= (n.784-313A=) | |
2 | g.202519774A>G | CA64016382 | BMPR2 | c.853-313A>G (n.853-313A>G) c.784-313A>G (n.784-313A>G) | dbSNP |
2 | g.202519775C>T | CA2701464392 | BMPR2 | c.853-312C>T (n.853-312C>T) c.784-312C>T (n.784-312C>T) | dbSNP |
2 | g.202519779T>C | CA763426966 | BMPR2 | c.853-308T>C (n.853-308T>C) c.784-308T>C (n.784-308T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519779T= | CA1321540067 | BMPR2 | c.853-308T= (n.853-308T=) c.784-308T= (n.784-308T=) | |
2 | g.202519780G>A | CA1321540069 | BMPR2 | c.853-307G>A (n.853-307G>A) c.784-307G>A (n.784-307G>A) | dbSNP |
2 | g.202519780G= | CA1321540068 | BMPR2 | c.853-307G= (n.853-307G=) c.784-307G= (n.784-307G=) | |
2 | g.202519782A= | CA1321540070 | BMPR2 | c.853-305A= (n.853-305A=) c.784-305A= (n.784-305A=) | |
2 | g.202519782A>G | CA1321540071 | BMPR2 | c.853-305A>G (n.853-305A>G) c.784-305A>G (n.784-305A>G) | dbSNP |
2 | g.202519783T>C | CA1321540073 | BMPR2 | c.853-304T>C (n.853-304T>C) c.784-304T>C (n.784-304T>C) | dbSNP |
2 | g.202519783T= | CA1321540072 | BMPR2 | c.853-304T= (n.853-304T=) c.784-304T= (n.784-304T=) | |
2 | g.202519786_202519788delinsTAC | CA1321540074 | BMPR2 | c.853-301_853-299delinsTAC (n.853-301_853-299delinsTAC) c.784-301_784-299delinsTAC (n.784-301_784-299delinsTAC) | |
2 | g.202519789_202519790del | CA763426971 | BMPR2 | c.853-298_853-297del (n.853-298_853-297del) c.784-298_784-297del (n.784-298_784-297del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519788C= | CA1321540075 | BMPR2 | c.853-299C= (n.853-299C=) c.784-299C= (n.784-299C=) | |
2 | g.202519788C>T | CA763426973 | BMPR2 | c.853-299C>T (n.853-299C>T) c.784-299C>T (n.784-299C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519791T>G | CA64016383 | BMPR2 | c.853-296T>G (n.853-296T>G) c.784-296T>G (n.784-296T>G) | dbSNP |
2 | g.202519791T= | CA1321540076 | BMPR2 | c.853-296T= (n.853-296T=) c.784-296T= (n.784-296T=) | |
2 | g.202519795C>A | CA1321540078 | BMPR2 | c.853-292C>A (n.853-292C>A) c.784-292C>A (n.784-292C>A) | dbSNP |
2 | g.202519795C= | CA1321540077 | BMPR2 | c.853-292C= (n.853-292C=) c.784-292C= (n.784-292C=) | |
2 | g.202519797A= | CA1321540079 | BMPR2 | c.853-290A= (n.853-290A=) c.784-290A= (n.784-290A=) | |
2 | g.202519797A>C | CA64016388 | BMPR2 | c.853-290A>C (n.853-290A>C) c.784-290A>C (n.784-290A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519797A>G | CA64016393 | BMPR2 | c.853-290A>G (n.853-290A>G) c.784-290A>G (n.784-290A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519802A= | CA1321540080 | BMPR2 | c.853-285A= (n.853-285A=) c.784-285A= (n.784-285A=) | |
2 | g.202519802A>C | CA1041341816 | BMPR2 | c.853-285A>C (n.853-285A>C) c.784-285A>C (n.784-285A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519803A= | CA1321540081 | BMPR2 | c.853-284A= (n.853-284A=) c.784-284A= (n.784-284A=) | |
2 | g.202519803A>C | CA64016398 | BMPR2 | c.853-284A>C (n.853-284A>C) c.784-284A>C (n.784-284A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519811A= | CA1321540082 | BMPR2 | c.853-276A= (n.853-276A=) c.784-276A= (n.784-276A=) | |
2 | g.202519811A>G | CA763426979 | BMPR2 | c.853-276A>G (n.853-276A>G) c.784-276A>G (n.784-276A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519814G= | CA1321540083 | BMPR2 | c.853-273G= (n.853-273G=) c.784-273G= (n.784-273G=) | |
2 | g.202519814G>T | CA538972749 | BMPR2 | c.853-273G>T (n.853-273G>T) c.784-273G>T (n.784-273G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519815A>T | CA2701464394 | BMPR2 | c.853-272A>T (n.853-272A>T) c.784-272A>T (n.784-272A>T) | dbSNP |
2 | g.202519819G>A | CA763426985 | BMPR2 | c.853-268G>A (n.853-268G>A) c.784-268G>A (n.784-268G>A) | dbSNP |
2 | g.202519819G= | CA1321540084 | BMPR2 | c.853-268G= (n.853-268G=) c.784-268G= (n.784-268G=) | |
2 | g.202519820T>C | CA763426989 | BMPR2 | c.853-267T>C (n.853-267T>C) c.784-267T>C (n.784-267T>C) | dbSNP |
2 | g.202519820T>G | CA64016399 | BMPR2 | c.853-267T>G (n.853-267T>G) c.784-267T>G (n.784-267T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519820T= | CA1321540085 | BMPR2 | c.853-267T= (n.853-267T=) c.784-267T= (n.784-267T=) | |
2 | g.202519823A= | CA1321540086 | BMPR2 | c.853-264A= (n.853-264A=) c.784-264A= (n.784-264A=) | |
2 | g.202519823A>G | CA1321540087 | BMPR2 | c.853-264A>G (n.853-264A>G) c.784-264A>G (n.784-264A>G) | dbSNP |
2 | g.202519832_202519836delinsTAATC | CA1321540088 | BMPR2 | c.853-255_853-251delinsTAATC (n.853-255_853-251delinsTAATC) c.784-255_784-251delinsTAATC (n.784-255_784-251delinsTAATC) | |
2 | g.202519834_202519837del | CA64016400 | BMPR2 | c.853-253_853-250del (n.853-253_853-250del) c.784-253_784-250del (n.784-253_784-250del) | dbSNP |
2 | g.202519835_202519836delinsTC | CA1321540089 | BMPR2 | c.853-252_853-251delinsTC (n.853-252_853-251delinsTC) c.784-252_784-251delinsTC (n.784-252_784-251delinsTC) | |
2 | g.202519836del | CA1321540090 | BMPR2 | c.853-251del (n.853-251del) c.784-251del (n.784-251del) | dbSNP |
2 | g.202519836C= | CA1321540091 | BMPR2 | c.853-251C= (n.853-251C=) c.784-251C= (n.784-251C=) | |
2 | g.202519836C>G | CA1321540092 | BMPR2 | c.853-251C>G (n.853-251C>G) c.784-251C>G (n.784-251C>G) | dbSNP |
2 | g.202519843A= | CA1321540093 | BMPR2 | c.853-244A= (n.853-244A=) c.784-244A= (n.784-244A=) | |
2 | g.202519843A>C | CA1041341822 | BMPR2 | c.853-244A>C (n.853-244A>C) c.784-244A>C (n.784-244A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519843A>G | CA763426993 | BMPR2 | c.853-244A>G (n.853-244A>G) c.784-244A>G (n.784-244A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519846T>G | CA763426996 | BMPR2 | c.853-241T>G (n.853-241T>G) c.784-241T>G (n.784-241T>G) | dbSNP |
2 | g.202519846T= | CA1321540094 | BMPR2 | c.853-241T= (n.853-241T=) c.784-241T= (n.784-241T=) | |
2 | g.202519850A= | CA1321540095 | BMPR2 | c.853-237A= (n.853-237A=) c.784-237A= (n.784-237A=) | |
2 | g.202519850A>G | CA763427015 | BMPR2 | c.853-237A>G (n.853-237A>G) c.784-237A>G (n.784-237A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519851A>G | CA2701464398 | BMPR2 | c.853-236A>G (n.853-236A>G) c.784-236A>G (n.784-236A>G) | dbSNP |
2 | g.202519853A= | CA1321540096 | BMPR2 | c.853-234A= (n.853-234A=) c.784-234A= (n.784-234A=) | |
2 | g.202519853A>G | CA1321540097 | BMPR2 | c.853-234A>G (n.853-234A>G) c.784-234A>G (n.784-234A>G) | dbSNP |
2 | g.202519854_202519856delinsTTA | CA1321540098 | BMPR2 | c.853-233_853-231delinsTTA (n.853-233_853-231delinsTTA) c.784-233_784-231delinsTTA (n.784-233_784-231delinsTTA) | |
2 | g.202519855T>C | CA1041341825 | BMPR2 | c.853-232T>C (n.853-232T>C) c.784-232T>C (n.784-232T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519855T= | CA1321540099 | BMPR2 | c.853-232T= (n.853-232T=) c.784-232T= (n.784-232T=) | |
2 | g.202519855_202519856del | CA538972752 | BMPR2 | c.853-232_853-231del (n.853-232_853-231del) c.784-232_784-231del (n.784-232_784-231del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519856A= | CA1321540100 | BMPR2 | c.853-231A= (n.853-231A=) c.784-231A= (n.784-231A=) | |
2 | g.202519856A>G | CA64016402 | BMPR2 | c.853-231A>G (n.853-231A>G) c.784-231A>G (n.784-231A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519857G>C | CA64016406 | BMPR2 | c.853-230G>C (n.853-230G>C) c.784-230G>C (n.784-230G>C) | dbSNP |
2 | g.202519857G= | CA1321540101 | BMPR2 | c.853-230G= (n.853-230G=) c.784-230G= (n.784-230G=) | |
2 | g.202519860A= | CA1321540102 | BMPR2 | c.853-227A= (n.853-227A=) c.784-227A= (n.784-227A=) | |
2 | g.202519860A>T | CA1321540103 | BMPR2 | c.853-227A>T (n.853-227A>T) c.784-227A>T (n.784-227A>T) | dbSNP |
2 | g.202519861C= | CA1321540105 | BMPR2 | c.853-226C= (n.853-226C=) c.784-226C= (n.784-226C=) | |
2 | g.202519861C>T | CA763427024 | BMPR2 | c.853-226C>T (n.853-226C>T) c.784-226C>T (n.784-226C>T) | dbSNP |
2 | g.202519861_202519863delinsCAT | CA1321540104 | BMPR2 | c.853-226_853-224delinsCAT (n.853-226_853-224delinsCAT) c.784-226_784-224delinsCAT (n.784-226_784-224delinsCAT) | |
2 | g.202519863_202519864del | CA1041341830 | BMPR2 | c.853-224_853-223del (n.853-224_853-223del) c.784-224_784-223del (n.784-224_784-223del) | dbSNP gnomAD v3 gnomAD v4 |