Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50910710A>G | CA2693751362 | gnomAD v4 | ||
X | g.50910710A>T | CA2579612618 | |||
X | g.50910711T>C | CA2579612619 | gnomAD v4 | ||
X | g.50910712G>A | CA2693751363 | gnomAD v4 | ||
X | g.50910712G= | CA2429023900 | |||
X | g.50910712G>T | CA2429023901 | dbSNP gnomAD v4 | ||
X | g.50910713A>G | CA2693751364 | gnomAD v4 | ||
X | g.50910714A>G | CA2579612620 | |||
X | g.50910716G>T | CA2539405064 | gnomAD v4 | ||
X | g.50910717G>A | CA2579612621 | |||
X | g.50910717G>C | CA2693751365 | gnomAD v4 | ||
X | g.50910718A>T | CA2693751366 | gnomAD v4 | ||
X | g.50910720A= | CA2429023902 | |||
X | g.50910720A>G | CA329809477 | dbSNP | ||
X | g.50910723G>A | CA2738690540 | dbSNP | ||
X | g.50910725C>A | CA2579612622 | |||
X | g.50910727G>A | CA1133041984 | dbSNP gnomAD v3 gnomAD v4 | ||
X | g.50910727G= | CA2429023903 | |||
X | g.50910727G>T | CA2693751367 | gnomAD v4 | ||
X | g.50910728A>T | CA2579612623 | |||
X | g.50910729G>A | CA2693751368 | gnomAD v4 | ||
X | g.50910730T>C | CA2579612624 | |||
X | g.50910732A= | CA2429023904 | |||
X | g.50910732A>G | CA876101029 | dbSNP gnomAD v3 gnomAD v4 | ||
X | g.50910733C>A | CA2693751369 | gnomAD v4 | ||
X | g.50910733C= | CA2429023905 | |||
X | g.50910733C>T | CA10416464 | dbSNP ExAC gnomAD v2 gnomAD v4 | ||
X | g.50910734G>A | CA10416465 | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 | ||
X | g.50910734G= | CA2429023906 | |||
X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del | ClinVar |
X | g.50910737C= | CA2429023907 | BMP15 | c.-47C= (n.-47C=) | |
X | g.50910737C>T | CA876101030 | BMP15 | c.-47C>T (n.-47C>T) | dbSNP |
X | g.50910738C>A | CA2693751370 | BMP15 | c.-46C>A (n.-46C>A) | gnomAD v4 |
X | g.50910738C>T | CA2579612625 | BMP15 | c.-46C>T (n.-46C>T) | gnomAD v4 |
X | g.50910739T>C | CA641906324 | BMP15 | c.-45T>C (n.-45T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50910739T>G | CA2429023909 | BMP15 | c.-45T>G (n.-45T>G) | dbSNP |
X | g.50910739T= | CA2429023908 | BMP15 | c.-45T= (n.-45T=) | |
X | g.50910740T>C | CA329809478 | BMP15 | c.-44T>C (n.-44T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910740T>G | CA2693751371 | BMP15 | c.-44T>G (n.-44T>G) | gnomAD v4 |
X | g.50910740T= | CA2429023910 | BMP15 | c.-44T= (n.-44T=) | |
X | g.50910741G>A | CA2693751372 | BMP15 | c.-43G>A (n.-43G>A) | gnomAD v4 |
X | g.50910741G>T | CA2693751373 | BMP15 | c.-43G>T (n.-43G>T) | gnomAD v4 |
X | g.50910742G>T | CA2693751374 | BMP15 | c.-42G>T (n.-42G>T) | gnomAD v4 |
X | g.50910743G>A | CA641906325 | BMP15 | c.-41G>A (n.-41G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50910743G= | CA2429023911 | BMP15 | c.-41G= (n.-41G=) | |
X | g.50910743G>T | CA10416466 | BMP15 | c.-41G>T (n.-41G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50910744C>A | CA2579612626 | BMP15 | c.-40C>A (n.-40C>A) | gnomAD v4 |
X | g.50910744C= | CA2429023912 | BMP15 | c.-40C= (n.-40C=) | |
X | g.50910744C>T | CA10416467 | BMP15 | c.-40C>T (n.-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50910747G>C | CA10416468 | BMP15 | c.-37G>C (n.-37G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50910747G= | CA2429023913 | BMP15 | c.-37G= (n.-37G=) | |
X | g.50910747G>T | CA641906326 | BMP15 | c.-37G>T (n.-37G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50910748T>G | CA2693751375 | BMP15 | c.-36T>G (n.-36T>G) | gnomAD v4 |
X | g.50910749G>A | CA876101051 | BMP15 | c.-35G>A (n.-35G>A) | dbSNP |
X | g.50910749G= | CA2429023914 | BMP15 | c.-35G= (n.-35G=) | |
X | g.50910749G>T | CA1133041985 | BMP15 | c.-35G>T (n.-35G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910750T>A | CA2820880766 | BMP15 | c.-34T>A (n.-34T>A) | |
X | g.50910750T>C | CA657965532 | BMP15 | c.-34T>C (n.-34T>C) | COSMIC |
X | g.50910753G>A | CA2693751376 | BMP15 | c.-31G>A (n.-31G>A) | gnomAD v4 |
X | g.50910753G>T | CA2693751377 | BMP15 | c.-31G>T (n.-31G>T) | gnomAD v4 |
X | g.50910754G>A | CA2429023916 | BMP15 | c.-30G>A (n.-30G>A) | dbSNP gnomAD v4 |
X | g.50910754G>C | CA876101055 | BMP15 | c.-30G>C (n.-30G>C) | dbSNP |
X | g.50910754G= | CA2429023915 | BMP15 | c.-30G= (n.-30G=) | |
X | g.50910755G>A | CA2579612627 | BMP15 | c.-29G>A (n.-29G>A) | gnomAD v4 |
X | g.50910755G>T | CA2579612628 | BMP15 | c.-29G>T (n.-29G>T) | gnomAD v4 |
X | g.50910756C>A | CA2693751378 | BMP15 | c.-28C>A (n.-28C>A) | gnomAD v4 |
X | g.50910757C>A | CA2693751379 | BMP15 | c.-27C>A (n.-27C>A) | gnomAD v4 |
X | g.50910758T>C | CA2693751380 | BMP15 | c.-26T>C (n.-26T>C) | gnomAD v4 |
X | g.50910759G>A | CA2693751381 | BMP15 | c.-25G>A (n.-25G>A) | gnomAD v4 |
X | g.50910760T>C | CA2693751383 | BMP15 | c.-24T>C (n.-24T>C) | gnomAD v4 |
X | g.50910760T>G | CA2693751382 | BMP15 | c.-24T>G (n.-24T>G) | gnomAD v4 |
X | g.50910762G>A | CA2693751384 | BMP15 | c.-22G>A (n.-22G>A) | gnomAD v4 |
X | g.50910762G= | CA2429023917 | BMP15 | c.-22G= (n.-22G=) | |
X | g.50910762G>T | CA10416469 | BMP15 | c.-22G>T (n.-22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910764T>C | CA2693751385 | BMP15 | c.-20T>C (n.-20T>C) | gnomAD v4 |
X | g.50910765G= | CA2429023918 | BMP15 | c.-19G= (n.-19G=) | |
X | g.50910765G>T | CA10416470 | BMP15 | c.-19G>T (n.-19G>T) | dbSNP ExAC gnomAD v4 |
X | g.50910768C>A | CA2579612629 | BMP15 | c.-16C>A (n.-16C>A) | gnomAD v4 |
X | g.50910768C>T | CA2693751386 | BMP15 | c.-16C>T (n.-16C>T) | gnomAD v4 |
X | g.50910769A>G | CA2594643944 | BMP15 | c.-15A>G (n.-15A>G) | gnomAD v3 gnomAD v4 |
X | g.50910770C>A | CA2693751387 | BMP15 | c.-14C>A (n.-14C>A) | gnomAD v4 |
X | g.50910770C= | CA2429023919 | BMP15 | c.-14C= (n.-14C=) | |
X | g.50910770C>G | CA2429023920 | BMP15 | c.-14C>G (n.-14C>G) | dbSNP |
X | g.50910771T>C | CA2693751388 | BMP15 | c.-13T>C (n.-13T>C) | gnomAD v4 |
X | g.50910772A= | CA2429023921 | BMP15 | c.-12A= (n.-12A=) | |
X | g.50910772A>G | CA641906327 | BMP15 | c.-12A>G (n.-12A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50910773del | CA2579612630 | BMP15 | c.-11del (n.-11del) | |
X | g.50910774G>A | CA2693751389 | BMP15 | c.-10G>A (n.-10G>A) | gnomAD v4 |
X | g.50910774_50910775delinsGC | CA2429023922 | BMP15 | c.-10_-9delinsGC (n.-10_-9delinsGC) | |
X | g.50910775C>A | CA2579612631 | BMP15 | c.-9C>A (n.-9C>A) | gnomAD v4 |
X | g.50910775C= | CA2429023923 | BMP15 | c.-9C= (n.-9C=) | |
X | g.50910775C>G | CA289714 | BMP15 | c.-9C>G (n.-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910775C>T | CA2580610311 | BMP15 | c.-9C>T (n.-9C>T) | gnomAD v4 |
X | g.50910776del | CA329809479 | BMP15 | c.-8del (n.-8del) | dbSNP |
X | g.50910781A= | CA2429023924 | BMP15 | c.-3A= (n.-3A=) | |
X | g.50910781A>C | CA1133041986 | BMP15 | c.-3A>C (n.-3A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910784A>C | CA413196964 | BMP15 | c.1A>C (p.Met1Leu) | |
X | g.50910784A>G | CA413196965 | BMP15 | c.1A>G (p.Met1Val) | |
X | g.50910784A>T | CA413196966 | BMP15 | c.1A>T (p.Met1Leu) | |
X | g.50910785T>A | CA413196969 | BMP15 | c.2T>A (p.Met1Lys) | gnomAD v4 |
X | g.50910785T>C | CA413196967 | BMP15 | c.2T>C (p.Met1Thr) | |
X | g.50910785T>G | CA413196968 | BMP15 | c.2T>G (p.Met1Arg) | |
X | g.50910786G>A | CA413196970 | BMP15 | c.3G>A (p.Met1Ile) | |
X | g.50910786G>C | CA413196971 | BMP15 | c.3G>C (p.Met1Ile) | |
X | g.50910786G>T | CA413196972 | BMP15 | c.3G>T (p.Met1Ile) | |
X | g.50910787dup | CA2579612632 | BMP15 | c.4dup (p.Val2GlyfsTer7) | |
X | g.50910787G>A | CA413196973 | BMP15 | c.4G>A (p.Val2Ile) | |
X | g.50910787G>C | CA413196974 | BMP15 | c.4G>C (p.Val2Leu) | |
X | g.50910787G>T | CA413196975 | BMP15 | c.4G>T (p.Val2Phe) | |
X | g.50910788T>A | CA413196978 | BMP15 | c.5T>A (p.Val2Asp) | gnomAD v4 |
X | g.50910788T>C | CA413196977 | BMP15 | c.5T>C (p.Val2Ala) | |
X | g.50910788T>G | CA413196976 | BMP15 | c.5T>G (p.Val2Gly) | |
X | g.50910789C>A | CA516680196 | BMP15 | c.6C>A (p.Val2=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50910789C= | CA2429023925 | BMP15 | c.6C= (p.Val2=) | |
X | g.50910789C>G | CA516680198 | BMP15 | c.6C>G (p.Val2=) | |
X | g.50910789C>T | CA516680199 | BMP15 | c.6C>T (p.Val2=) | gnomAD v4 |
X | g.50910790C>A | CA413196979 | BMP15 | c.7C>A (p.Leu3Ile) | |
X | g.50910790C= | CA2429023926 | BMP15 | c.7C= (p.Leu3=) | |
X | g.50910790C>G | CA413196980 | BMP15 | c.7C>G (p.Leu3Val) | |
X | g.50910790C>T | CA329809480 | BMP15 | c.7C>T (p.Leu3Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910791T>A | CA413196981 | BMP15 | c.8T>A (p.Leu3His) | |
X | g.50910791T>C | CA10416471 | BMP15 | c.8T>C (p.Leu3Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910791T>G | CA413196982 | BMP15 | c.8T>G (p.Leu3Arg) | |
X | g.50910791T= | CA2429023927 | BMP15 | c.8T= (p.Leu3=) | |
X | g.50910792C>A | CA516680201 | BMP15 | c.9C>A (p.Leu3=) | |
X | g.50910792C>G | CA516680203 | BMP15 | c.9C>G (p.Leu3=) | |
X | g.50910792C>T | CA516680204 | BMP15 | c.9C>T (p.Leu3=) | |
X | g.50910793C>A | CA413196983 | BMP15 | c.10C>A (p.Leu4Ile) | |
X | g.50910793C= | CA2429023928 | BMP15 | c.10C= (p.Leu4=) | |
X | g.50910793C>G | CA413196985 | BMP15 | c.10C>G (p.Leu4Val) | |
X | g.50910793C>T | CA413196984 | BMP15 | c.10C>T (p.Leu4Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910794T>A | CA413196986 | BMP15 | c.11T>A (p.Leu4His) | |
X | g.50910794T>C | CA413196987 | BMP15 | c.11T>C (p.Leu4Pro) | |
X | g.50910794T>G | CA413196988 | BMP15 | c.11T>G (p.Leu4Arg) | gnomAD v4 |
X | g.50910794_50910796del | CA2693751390 | BMP15 | c.11_13del (p.Leu4_Ser5delinsArg) | gnomAD v4 |
X | g.50910795C>A | CA516680207 | BMP15 | c.12C>A (p.Leu4=) | gnomAD v4 |
X | g.50910795C>G | CA516680209 | BMP15 | c.12C>G (p.Leu4=) | |
X | g.50910795C>T | CA516680211 | BMP15 | c.12C>T (p.Leu4=) | gnomAD v4 |
X | g.50910796A= | CA2429023929 | BMP15 | c.13A= (p.Ser5=) | |
X | g.50910796A>C | CA10416472 | BMP15 | c.13A>C (p.Ser5Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910796A>G | CA413196989 | BMP15 | c.13A>G (p.Ser5Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910796A>T | CA413196990 | BMP15 | c.13A>T (p.Ser5Cys) | |
X | g.50910797G>A | CA413196991 | BMP15 | c.14G>A (p.Ser5Asn) | |
X | g.50910797G>C | CA413196992 | BMP15 | c.14G>C (p.Ser5Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910797G= | CA2429023930 | BMP15 | c.14G= (p.Ser5=) | |
X | g.50910797G>T | CA413196993 | BMP15 | c.14G>T (p.Ser5Ile) | |
X | g.50910798T>A | CA413196994 | BMP15 | c.15T>A (p.Ser5Arg) | |
X | g.50910798T>C | CA516680216 | BMP15 | c.15T>C (p.Ser5=) | |
X | g.50910798T>G | CA413196995 | BMP15 | c.15T>G (p.Ser5Arg) | |
X | g.50910799A>C | CA413196996 | BMP15 | c.16A>C (p.Ile6Leu) | |
X | g.50910799A>G | CA413196998 | BMP15 | c.16A>G (p.Ile6Val) | |
X | g.50910799A>T | CA413196997 | BMP15 | c.16A>T (p.Ile6Phe) | |
X | g.50910800T>A | CA413196999 | BMP15 | c.17T>A (p.Ile6Asn) | |
X | g.50910800T>C | CA413197001 | BMP15 | c.17T>C (p.Ile6Thr) | |
X | g.50910800T>G | CA413197000 | BMP15 | c.17T>G (p.Ile6Ser) | |
X | g.50910801T>A | CA516680220 | BMP15 | c.18T>A (p.Ile6=) | |
X | g.50910801T>C | CA516680222 | BMP15 | c.18T>C (p.Ile6=) | |
X | g.50910801T>G | CA413197002 | BMP15 | c.18T>G (p.Ile6Met) | |
X | g.50910802C>A | CA413197003 | BMP15 | c.19C>A (p.Leu7Ile) | |
X | g.50910802C= | CA2429023931 | BMP15 | c.19C= (p.Leu7=) | |
X | g.50910802C>G | CA10416473 | BMP15 | c.19C>G (p.Leu7Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910802C>T | CA413197004 | BMP15 | c.19C>T (p.Leu7Phe) | gnomAD v4 |
X | g.50910803T>A | CA413197005 | BMP15 | c.20T>A (p.Leu7His) | |
X | g.50910803T>C | CA413197006 | BMP15 | c.20T>C (p.Leu7Pro) | |
X | g.50910803T>G | CA413197007 | BMP15 | c.20T>G (p.Leu7Arg) | |
X | g.50910804del | CA2693751391 | BMP15 | c.21del (p.Arg8GlufsTer?) | gnomAD v4 |
X | g.50910804T>A | CA516680225 | BMP15 | c.21T>A (p.Leu7=) | |
X | g.50910804T>C | CA516680227 | BMP15 | c.21T>C (p.Leu7=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910804T>G | CA516680226 | BMP15 | c.21T>G (p.Leu7=) | |
X | g.50910804T= | CA2429023932 | BMP15 | c.21T= (p.Leu7=) | |
X | g.50910805A>C | CA516680229 | BMP15 | c.22A>C (p.Arg8=) | |
X | g.50910805A>G | CA413197008 | BMP15 | c.22A>G (p.Arg8Gly) | gnomAD v4 |
X | g.50910805A>T | CA413197009 | BMP15 | c.22A>T (p.Arg8Ter) | |
X | g.50910806G>A | CA413197010 | BMP15 | c.23G>A (p.Arg8Lys) | |
X | g.50910806G>C | CA413197011 | BMP15 | c.23G>C (p.Arg8Thr) | |
X | g.50910806G= | CA2429023933 | BMP15 | c.23G= (p.Arg8=) | |
X | g.50910806G>T | CA10416474 | BMP15 | c.23G>T (p.Arg8Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.50910807A>C | CA413197012 | BMP15 | c.24A>C (p.Arg8Ser) | |
X | g.50910807A>G | CA516680231 | BMP15 | c.24A>G (p.Arg8=) | |
X | g.50910807A>T | CA413197013 | BMP15 | c.24A>T (p.Arg8Ser) | |
X | g.50910808A= | CA2429023934 | BMP15 | c.25A= (p.Ile9=) | |
X | g.50910808A>C | CA413197014 | BMP15 | c.25A>C (p.Ile9Leu) | |
X | g.50910808A>G | CA413197015 | BMP15 | c.25A>G (p.Ile9Val) | |
X | g.50910808A>T | CA413197016 | BMP15 | c.25A>T (p.Ile9Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910809T>A | CA413197017 | BMP15 | c.26T>A (p.Ile9Asn) | |
X | g.50910809T>C | CA413197018 | BMP15 | c.26T>C (p.Ile9Thr) | |
X | g.50910809T>G | CA413197019 | BMP15 | c.26T>G (p.Ile9Ser) | |
X | g.50910810T>A | CA516680237 | BMP15 | c.27T>A (p.Ile9=) | dbSNP |
X | g.50910810T>C | CA516680238 | BMP15 | c.27T>C (p.Ile9=) | |
X | g.50910810T>G | CA413197020 | BMP15 | c.27T>G (p.Ile9Met) | |
X | g.50910810T= | CA2429023935 | BMP15 | c.27T= (p.Ile9=) |