Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261762A= | CA1397873040 | CASR | c.727A= (p.Ile243=) c.244A= (p.Ile82=) c.139A= (p.Ile47=) | |
3 | g.122261762A>C | CA354151221 | CASR | c.727A>C (p.Ile243Leu) c.244A>C (p.Ile82Leu) c.139A>C (p.Ile47Leu) | ClinVar dbSNP gnomAD v2 |
3 | g.122261762A>G | CA354151222 | CASR | c.727A>G (p.Ile243Val) c.244A>G (p.Ile82Val) c.139A>G (p.Ile47Val) | ClinVar |
3 | g.122261762A>T | CA354151223 | CASR | c.727A>T (p.Ile243Phe) c.244A>T (p.Ile82Phe) c.139A>T (p.Ile47Phe) | |
3 | g.122261763T>A | CA354151226 | CASR | c.728T>A (p.Ile243Asn) c.245T>A (p.Ile82Asn) c.140T>A (p.Ile47Asn) | |
3 | g.122261763T>C | CA354151225 | CASR | c.728T>C (p.Ile243Thr) c.245T>C (p.Ile82Thr) c.140T>C (p.Ile47Thr) | |
3 | g.122261763T>G | CA354151224 | CASR | c.728T>G (p.Ile243Ser) c.245T>G (p.Ile82Ser) c.140T>G (p.Ile47Ser) | |
3 | g.122261764C>A | CA435424267 | CASR | c.729C>A (p.Ile243=) c.246C>A (p.Ile82=) c.141C>A (p.Ile47=) | |
3 | g.122261764C>G | CA354151227 | CASR | c.729C>G (p.Ile243Met) c.246C>G (p.Ile82Met) c.141C>G (p.Ile47Met) | ClinVar |
3 | g.122261764C>T | CA435424265 | CASR | c.729C>T (p.Ile243=) c.246C>T (p.Ile82=) c.141C>T (p.Ile47=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261765T>A | CA354151228 | CASR | c.730T>A (p.Ser244Thr) c.247T>A (p.Ser83Thr) c.142T>A (p.Ser48Thr) | |
3 | g.122261765T>C | CA354151229 | CASR | c.730T>C (p.Ser244Pro) c.247T>C (p.Ser83Pro) c.142T>C (p.Ser48Pro) | |
3 | g.122261765T>G | CA354151230 | CASR | c.730T>G (p.Ser244Ala) c.247T>G (p.Ser83Ala) c.142T>G (p.Ser48Ala) | |
3 | g.122261765_122261766delinsTC | CA1397873042 | CASR | c.730_731delinsTC (p.Ser244=) c.247_248delinsTC (p.Ser83=) c.142_143delinsTC (p.Ser48=) | |
3 | g.122261766C>A | CA354151231 | CASR | c.731C>A (p.Ser244Tyr) c.248C>A (p.Ser83Tyr) c.143C>A (p.Ser48Tyr) | |
3 | g.122261766C>G | CA354151232 | CASR | c.731C>G (p.Ser244Cys) c.248C>G (p.Ser83Cys) c.143C>G (p.Ser48Cys) | |
3 | g.122261766C>T | CA354151233 | CASR | c.731C>T (p.Ser244Phe) c.248C>T (p.Ser83Phe) c.143C>T (p.Ser48Phe) | COSMIC |
3 | g.122261768del | CA1397873043 | CASR | c.733del (p.Gln245SerfsTer12) c.250del (p.Gln84SerfsTer12) c.145del (p.Gln49SerfsTer12) | dbSNP |
3 | g.122261767C>A | CA435424271 | CASR | c.732C>A (p.Ser244=) c.249C>A (p.Ser83=) c.144C>A (p.Ser48=) | |
3 | g.122261767C= | CA1397873044 | CASR | c.732C= (p.Ser244=) c.249C= (p.Ser83=) c.144C= (p.Ser48=) | |
3 | g.122261767C>G | CA435424272 | CASR | c.732C>G (p.Ser244=) c.249C>G (p.Ser83=) c.144C>G (p.Ser48=) | COSMIC |
3 | g.122261767C>T | CA435424273 | CASR | c.732C>T (p.Ser244=) c.249C>T (p.Ser83=) c.144C>T (p.Ser48=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261768C>A | CA354151234 | CASR | c.733C>A (p.Gln245Lys) c.250C>A (p.Gln84Lys) c.145C>A (p.Gln49Lys) | COSMIC |
3 | g.122261768C= | CA1397873046 | CASR | c.733C= (p.Gln245=) c.250C= (p.Gln84=) c.145C= (p.Gln49=) | |
3 | g.122261768C>G | CA354151235 | CASR | c.733C>G (p.Gln245Glu) c.250C>G (p.Gln84Glu) c.145C>G (p.Gln49Glu) | |
3 | g.122261768C>T | CA354151236 | CASR | c.733C>T (p.Gln245Ter) c.250C>T (p.Gln84Ter) c.145C>T (p.Gln49Ter) | ClinVar dbSNP |
3 | g.122261769A>C | CA354151237 | CASR | c.734A>C (p.Gln245Pro) c.251A>C (p.Gln84Pro) c.146A>C (p.Gln49Pro) | gnomAD v4 |
3 | g.122261769A>G | CA354151238 | CASR | c.734A>G (p.Gln245Arg) c.251A>G (p.Gln84Arg) c.146A>G (p.Gln49Arg) | ClinVar |
3 | g.122261769A>T | CA354151239 | CASR | c.734A>T (p.Gln245Leu) c.251A>T (p.Gln84Leu) c.146A>T (p.Gln49Leu) | |
3 | g.122261770G>A | CA435424274 | CASR | c.735G>A (p.Gln245=) c.252G>A (p.Gln84=) c.147G>A (p.Gln49=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261770G>C | CA354151240 | CASR | c.735G>C (p.Gln245His) c.252G>C (p.Gln84His) c.147G>C (p.Gln49His) | |
3 | g.122261770G= | CA1397873048 | CASR | c.735G= (p.Gln245=) c.252G= (p.Gln84=) c.147G= (p.Gln49=) | |
3 | g.122261770G>T | CA354151241 | CASR | c.735G>T (p.Gln245His) c.252G>T (p.Gln84His) c.147G>T (p.Gln49His) | |
3 | g.122261771T>A | CA354151242 | CASR | c.736T>A (p.Tyr246Asn) c.253T>A (p.Tyr85Asn) c.148T>A (p.Tyr50Asn) | |
3 | g.122261771T>C | CA354151243 | CASR | c.736T>C (p.Tyr246His) c.253T>C (p.Tyr85His) c.148T>C (p.Tyr50His) | |
3 | g.122261771T>G | CA354151244 | CASR | c.736T>G (p.Tyr246Asp) c.253T>G (p.Tyr85Asp) c.148T>G (p.Tyr50Asp) | |
3 | g.122261772A>C | CA354151245 | CASR | c.737A>C (p.Tyr246Ser) c.254A>C (p.Tyr85Ser) c.149A>C (p.Tyr50Ser) | |
3 | g.122261772A>G | CA354151246 | CASR | c.737A>G (p.Tyr246Cys) c.254A>G (p.Tyr85Cys) c.149A>G (p.Tyr50Cys) | |
3 | g.122261772A>T | CA354151247 | CASR | c.737A>T (p.Tyr246Phe) c.254A>T (p.Tyr85Phe) c.149A>T (p.Tyr50Phe) | |
3 | g.122261773C>A | CA354151248 | CASR | c.738C>A (p.Tyr246Ter) c.255C>A (p.Tyr85Ter) c.150C>A (p.Tyr50Ter) | |
3 | g.122261773C= | CA1397873050 | CASR | c.738C= (p.Tyr246=) c.255C= (p.Tyr85=) c.150C= (p.Tyr50=) | |
3 | g.122261773C>G | CA82738393 | CASR | c.738C>G (p.Tyr246Ter) c.255C>G (p.Tyr85Ter) c.150C>G (p.Tyr50Ter) | dbSNP |
3 | g.122261773C>T | CA82738398 | CASR | c.738C>T (p.Tyr246=) c.255C>T (p.Tyr85=) c.150C>T (p.Tyr50=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261774T>A | CA354151249 | CASR | c.739T>A (p.Ser247Thr) c.256T>A (p.Ser86Thr) c.151T>A (p.Ser51Thr) | |
3 | g.122261774T>C | CA82738406 | CASR | c.739T>C (p.Ser247Pro) c.256T>C (p.Ser86Pro) c.151T>C (p.Ser51Pro) | dbSNP gnomAD v4 |
3 | g.122261774T>G | CA354151250 | CASR | c.739T>G (p.Ser247Ala) c.256T>G (p.Ser86Ala) c.151T>G (p.Ser51Ala) | |
3 | g.122261774T= | CA1397873053 | CASR | c.739T= (p.Ser247=) c.256T= (p.Ser86=) c.151T= (p.Ser51=) | |
3 | g.122261775C>A | CA354151251 | CASR | c.740C>A (p.Ser247Tyr) c.257C>A (p.Ser86Tyr) c.152C>A (p.Ser51Tyr) | |
3 | g.122261775C= | CA1397873055 | CASR | c.740C= (p.Ser247=) c.257C= (p.Ser86=) c.152C= (p.Ser51=) | |
3 | g.122261775C>G | CA354151252 | CASR | c.740C>G (p.Ser247Cys) c.257C>G (p.Ser86Cys) c.152C>G (p.Ser51Cys) | |
3 | g.122261775C>T | CA216140 | CASR | c.740C>T (p.Ser247Phe) c.257C>T (p.Ser86Phe) c.152C>T (p.Ser51Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261776T>A | CA435424279 | CASR | c.741T>A (p.Ser247=) c.258T>A (p.Ser86=) c.153T>A (p.Ser51=) | |
3 | g.122261776T>C | CA435424280 | CASR | c.741T>C (p.Ser247=) c.258T>C (p.Ser86=) c.153T>C (p.Ser51=) | |
3 | g.122261776T>G | CA435424281 | CASR | c.741T>G (p.Ser247=) c.258T>G (p.Ser86=) c.153T>G (p.Ser51=) | |
3 | g.122261776dup | CA2586972804 | CASR | c.741dup (p.Asp248Ter) c.258dup (p.Asp87Ter) c.153dup (p.Asp52Ter) | ClinVar gnomAD v4 |
3 | g.122261777G>A | CA354151253 | CASR | c.742G>A (p.Asp248Asn) c.259G>A (p.Asp87Asn) c.154G>A (p.Asp52Asn) | gnomAD v4 COSMIC |
3 | g.122261777G>C | CA354151255 | CASR | c.742G>C (p.Asp248His) c.259G>C (p.Asp87His) c.154G>C (p.Asp52His) | COSMIC |
3 | g.122261777G>T | CA354151254 | CASR | c.742G>T (p.Asp248Tyr) c.259G>T (p.Asp87Tyr) c.154G>T (p.Asp52Tyr) | |
3 | g.122261778A>C | CA354151256 | CASR | c.743A>C (p.Asp248Ala) c.260A>C (p.Asp87Ala) c.155A>C (p.Asp52Ala) | |
3 | g.122261778A>G | CA354151257 | CASR | c.743A>G (p.Asp248Gly) c.260A>G (p.Asp87Gly) c.155A>G (p.Asp52Gly) | |
3 | g.122261778A>T | CA354151258 | CASR | c.743A>T (p.Asp248Val) c.260A>T (p.Asp87Val) c.155A>T (p.Asp52Val) | |
3 | g.122261779T>A | CA354151259 | CASR | c.744T>A (p.Asp248Glu) c.261T>A (p.Asp87Glu) c.156T>A (p.Asp52Glu) | gnomAD v4 |
3 | g.122261779T>C | CA435424285 | CASR | c.744T>C (p.Asp248=) c.261T>C (p.Asp87=) c.156T>C (p.Asp52=) | |
3 | g.122261779T>G | CA354151260 | CASR | c.744T>G (p.Asp248Glu) c.261T>G (p.Asp87Glu) c.156T>G (p.Asp52Glu) | |
3 | g.122261779_122261782delinsTGAG | CA1397873057 | CASR | c.744_747delinsTGAG (p.Asp248=) c.261_264delinsTGAG (p.Asp87=) c.156_159delinsTGAG (p.Asp52=) | |
3 | g.122261780G>A | CA354151261 | CASR | c.745G>A (p.Glu249Lys) c.262G>A (p.Glu88Lys) c.157G>A (p.Glu53Lys) | |
3 | g.122261780G>C | CA354151262 | CASR | c.745G>C (p.Glu249Gln) c.262G>C (p.Glu88Gln) c.157G>C (p.Glu53Gln) | |
3 | g.122261780G>T | CA354151263 | CASR | c.745G>T (p.Glu249Ter) c.262G>T (p.Glu88Ter) c.157G>T (p.Glu53Ter) | |
3 | g.122261782_122261784del | CA1397873058 | CASR | c.747_749del (p.Glu250del) c.264_266del (p.Glu89del) c.159_161del (p.Glu54del) | ClinVar dbSNP |
3 | g.122261781A>C | CA354151264 | CASR | c.746A>C (p.Glu249Ala) c.263A>C (p.Glu88Ala) c.158A>C (p.Glu53Ala) | |
3 | g.122261781A>G | CA354151265 | CASR | c.746A>G (p.Glu249Gly) c.263A>G (p.Glu88Gly) c.158A>G (p.Glu53Gly) | |
3 | g.122261781A>T | CA354151266 | CASR | c.746A>T (p.Glu249Val) c.263A>T (p.Glu88Val) c.158A>T (p.Glu53Val) | ClinVar |
3 | g.122261782G>A | CA2569527 | CASR | c.747G>A (p.Glu249=) c.264G>A (p.Glu88=) c.159G>A (p.Glu53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261782G>C | CA354151268 | CASR | c.747G>C (p.Glu249Asp) c.264G>C (p.Glu88Asp) c.159G>C (p.Glu53Asp) | |
3 | g.122261782G= | CA1397873059 | CASR | c.747G= (p.Glu249=) c.264G= (p.Glu88=) c.159G= (p.Glu53=) | |
3 | g.122261782G>T | CA354151267 | CASR | c.747G>T (p.Glu249Asp) c.264G>T (p.Glu88Asp) c.159G>T (p.Glu53Asp) | |
3 | g.122261783G>A | CA202250 | CASR | c.748G>A (p.Glu250Lys) c.265G>A (p.Glu89Lys) c.160G>A (p.Glu54Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261783G>C | CA354151270 | CASR | c.748G>C (p.Glu250Gln) c.265G>C (p.Glu89Gln) c.160G>C (p.Glu54Gln) | |
3 | g.122261783G= | CA1397873061 | CASR | c.748G= (p.Glu250=) c.265G= (p.Glu89=) c.160G= (p.Glu54=) | |
3 | g.122261783G>T | CA354151269 | CASR | c.748G>T (p.Glu250Ter) c.265G>T (p.Glu89Ter) c.160G>T (p.Glu54Ter) | |
3 | g.122261784A= | CA1397873064 | CASR | c.749A= (p.Glu250=) c.266A= (p.Glu89=) c.161A= (p.Glu54=) | |
3 | g.122261784A>C | CA354151271 | CASR | c.749A>C (p.Glu250Ala) c.266A>C (p.Glu89Ala) c.161A>C (p.Glu54Ala) | |
3 | g.122261784A>G | CA354151272 | CASR | c.749A>G (p.Glu250Gly) c.266A>G (p.Glu89Gly) c.161A>G (p.Glu54Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261784A>T | CA354151273 | CASR | c.749A>T (p.Glu250Val) c.266A>T (p.Glu89Val) c.161A>T (p.Glu54Val) | |
3 | g.122261785A>C | CA354151274 | CASR | c.750A>C (p.Glu250Asp) c.267A>C (p.Glu89Asp) c.162A>C (p.Glu54Asp) | ClinVar gnomAD v3 gnomAD v4 |
3 | g.122261785A>G | CA435424287 | CASR | c.750A>G (p.Glu250=) c.267A>G (p.Glu89=) c.162A>G (p.Glu54=) | |
3 | g.122261785A>T | CA354151275 | CASR | c.750A>T (p.Glu250Asp) c.267A>T (p.Glu89Asp) c.162A>T (p.Glu54Asp) | |
3 | g.122261786G>A | CA354151276 | CASR | c.751G>A (p.Glu251Lys) c.268G>A (p.Glu90Lys) c.163G>A (p.Glu55Lys) | gnomAD v4 |
3 | g.122261786G>C | CA16611086 | CASR | c.751G>C (p.Glu251Gln) c.268G>C (p.Glu90Gln) c.163G>C (p.Glu55Gln) | ClinVar dbSNP |
3 | g.122261786G= | CA1397873066 | CASR | c.751G= (p.Glu251=) c.268G= (p.Glu90=) c.163G= (p.Glu55=) | |
3 | g.122261786G>T | CA354151277 | CASR | c.751G>T (p.Glu251Ter) c.268G>T (p.Glu90Ter) c.163G>T (p.Glu55Ter) | |
3 | g.122261786_122261790del | CA2522536752 | CASR | c.751_755del (p.Glu251ProfsTer25) c.268_272del (p.Glu90ProfsTer25) c.163_167del (p.Glu55ProfsTer25) | |
3 | g.122261787A= | CA1397873069 | CASR | c.752A= (p.Glu251=) c.269A= (p.Glu90=) c.164A= (p.Glu55=) | |
3 | g.122261787A>C | CA354151278 | CASR | c.752A>C (p.Glu251Ala) c.269A>C (p.Glu90Ala) c.164A>C (p.Glu55Ala) | |
3 | g.122261787A>G | CA2569528 | CASR | c.752A>G (p.Glu251Gly) c.269A>G (p.Glu90Gly) c.164A>G (p.Glu55Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261787A>T | CA354151279 | CASR | c.752A>T (p.Glu251Val) c.269A>T (p.Glu90Val) c.164A>T (p.Glu55Val) | |
3 | g.122261788G>A | CA435424290 | CASR | c.753G>A (p.Glu251=) c.270G>A (p.Glu90=) c.165G>A (p.Glu55=) | ClinVar gnomAD v4 COSMIC |
3 | g.122261788G>C | CA354151280 | CASR | c.753G>C (p.Glu251Asp) c.270G>C (p.Glu90Asp) c.165G>C (p.Glu55Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.122261788G= | CA1397873071 | CASR | c.753G= (p.Glu251=) c.270G= (p.Glu90=) c.165G= (p.Glu55=) | |
3 | g.122261788G>T | CA354151281 | CASR | c.753G>T (p.Glu251Asp) c.270G>T (p.Glu90Asp) c.165G>T (p.Glu55Asp) | |
3 | g.122261789A>C | CA354151284 | CASR | c.754A>C (p.Ile252Leu) c.271A>C (p.Ile91Leu) c.166A>C (p.Ile56Leu) | |
3 | g.122261789A>G | CA354151283 | CASR | c.754A>G (p.Ile252Val) c.271A>G (p.Ile91Val) c.166A>G (p.Ile56Val) | ClinVar dbSNP |
3 | g.122261789A>T | CA354151282 | CASR | c.754A>T (p.Ile252Phe) c.271A>T (p.Ile91Phe) c.166A>T (p.Ile56Phe) | ClinVar |
3 | g.122261790T>A | CA354151285 | CASR | c.755T>A (p.Ile252Asn) c.272T>A (p.Ile91Asn) c.167T>A (p.Ile56Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.122261790T>C | CA354151286 | CASR | c.755T>C (p.Ile252Thr) c.272T>C (p.Ile91Thr) c.167T>C (p.Ile56Thr) | |
3 | g.122261790T>G | CA354151287 | CASR | c.755T>G (p.Ile252Ser) c.272T>G (p.Ile91Ser) c.167T>G (p.Ile56Ser) | |
3 | g.122261790T= | CA1397873074 | CASR | c.755T= (p.Ile252=) c.272T= (p.Ile91=) c.167T= (p.Ile56=) | |
3 | g.122261791C>A | CA435424293 | CASR | c.756C>A (p.Ile252=) c.273C>A (p.Ile91=) c.168C>A (p.Ile56=) | ClinVar dbSNP |
3 | g.122261791C= | CA1397873075 | CASR | c.756C= (p.Ile252=) c.273C= (p.Ile91=) c.168C= (p.Ile56=) | |
3 | g.122261791C>G | CA354151288 | CASR | c.756C>G (p.Ile252Met) c.273C>G (p.Ile91Met) c.168C>G (p.Ile56Met) | ClinVar |
3 | g.122261791C>T | CA82738476 | CASR | c.756C>T (p.Ile252=) c.273C>T (p.Ile91=) c.168C>T (p.Ile56=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261792C>A | CA2569529 | CASR | c.757C>A (p.Gln253Lys) c.274C>A (p.Gln92Lys) c.169C>A (p.Gln57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261792C= | CA1397873078 | CASR | c.757C= (p.Gln253=) c.274C= (p.Gln92=) c.169C= (p.Gln57=) | |
3 | g.122261792C>G | CA354151289 | CASR | c.757C>G (p.Gln253Glu) c.274C>G (p.Gln92Glu) c.169C>G (p.Gln57Glu) | |
3 | g.122261792C>T | CA354151290 | CASR | c.757C>T (p.Gln253Ter) c.274C>T (p.Gln92Ter) c.169C>T (p.Gln57Ter) | gnomAD v4 |
3 | g.122261793A= | CA1397873080 | CASR | c.758A= (p.Gln253=) c.275A= (p.Gln92=) c.170A= (p.Gln57=) | |
3 | g.122261793A>C | CA354151291 | CASR | c.758A>C (p.Gln253Pro) c.275A>C (p.Gln92Pro) c.170A>C (p.Gln57Pro) | |
3 | g.122261793A>G | CA354151292 | CASR | c.758A>G (p.Gln253Arg) c.275A>G (p.Gln92Arg) c.170A>G (p.Gln57Arg) | |
3 | g.122261793A>T | CA2569530 | CASR | c.758A>T (p.Gln253Leu) c.275A>T (p.Gln92Leu) c.170A>T (p.Gln57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261794G>A | CA435424297 | CASR | c.759G>A (p.Gln253=) c.276G>A (p.Gln92=) c.171G>A (p.Gln57=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261794G>C | CA354151293 | CASR | c.759G>C (p.Gln253His) c.276G>C (p.Gln92His) c.171G>C (p.Gln57His) | dbSNP |
3 | g.122261794G= | CA1397873082 | CASR | c.759G= (p.Gln253=) c.276G= (p.Gln92=) c.171G= (p.Gln57=) | |
3 | g.122261794G>T | CA354151294 | CASR | c.759G>T (p.Gln253His) c.276G>T (p.Gln92His) c.171G>T (p.Gln57His) | |
3 | g.122261795C>A | CA354151296 | CASR | c.760C>A (p.His254Asn) c.277C>A (p.His93Asn) c.172C>A (p.His58Asn) | |
3 | g.122261795C>G | CA354151297 | CASR | c.760C>G (p.His254Asp) c.277C>G (p.His93Asp) c.172C>G (p.His58Asp) | |
3 | g.122261795C>T | CA354151295 | CASR | c.760C>T (p.His254Tyr) c.277C>T (p.His93Tyr) c.172C>T (p.His58Tyr) | |
3 | g.122261796A>C | CA354151298 | CASR | c.761A>C (p.His254Pro) c.278A>C (p.His93Pro) c.173A>C (p.His58Pro) | |
3 | g.122261796A>G | CA354151299 | CASR | c.761A>G (p.His254Arg) c.278A>G (p.His93Arg) c.173A>G (p.His58Arg) | |
3 | g.122261796A>T | CA354151300 | CASR | c.761A>T (p.His254Leu) c.278A>T (p.His93Leu) c.173A>T (p.His58Leu) | |
3 | g.122261797T>A | CA354151301 | CASR | c.762T>A (p.His254Gln) c.279T>A (p.His93Gln) c.174T>A (p.His58Gln) | |
3 | g.122261797T>C | CA2569531 | CASR | c.762T>C (p.His254=) c.279T>C (p.His93=) c.174T>C (p.His58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261797T>G | CA354151302 | CASR | c.762T>G (p.His254Gln) c.279T>G (p.His93Gln) c.174T>G (p.His58Gln) | |
3 | g.122261797T= | CA1397873084 | CASR | c.762T= (p.His254=) c.279T= (p.His93=) c.174T= (p.His58=) | |
3 | g.122261798G>A | CA354151303 | CASR | c.763G>A (p.Val255Met) c.280G>A (p.Val94Met) c.175G>A (p.Val59Met) | |
3 | g.122261798G>C | CA354151304 | CASR | c.763G>C (p.Val255Leu) c.280G>C (p.Val94Leu) c.175G>C (p.Val59Leu) | |
3 | g.122261798G>T | CA354151305 | CASR | c.763G>T (p.Val255Leu) c.280G>T (p.Val94Leu) c.175G>T (p.Val59Leu) | gnomAD v4 |
3 | g.122261799T>A | CA354151306 | CASR | c.764T>A (p.Val255Glu) c.281T>A (p.Val94Glu) c.176T>A (p.Val59Glu) | |
3 | g.122261799T>C | CA354151307 | CASR | c.764T>C (p.Val255Ala) c.281T>C (p.Val94Ala) c.176T>C (p.Val59Ala) | |
3 | g.122261799T>G | CA354151308 | CASR | c.764T>G (p.Val255Gly) c.281T>G (p.Val94Gly) c.176T>G (p.Val59Gly) | |
3 | g.122261800G>A | CA435424308 | CASR | c.765G>A (p.Val255=) c.282G>A (p.Val94=) c.177G>A (p.Val59=) | ClinVar dbSNP |
3 | g.122261800G>C | CA435424309 | CASR | c.765G>C (p.Val255=) c.282G>C (p.Val94=) c.177G>C (p.Val59=) | |
3 | g.122261800G>T | CA435424310 | CASR | c.765G>T (p.Val255=) c.282G>T (p.Val94=) c.177G>T (p.Val59=) | |
3 | g.122261801G>A | CA354151311 | CASR | c.766G>A (p.Val256Ile) c.283G>A (p.Val95Ile) c.178G>A (p.Val60Ile) | ClinVar gnomAD v4 |
3 | g.122261801G>C | CA354151309 | CASR | c.766G>C (p.Val256Leu) c.283G>C (p.Val95Leu) c.178G>C (p.Val60Leu) | |
3 | g.122261801G>T | CA354151310 | CASR | c.766G>T (p.Val256Leu) c.283G>T (p.Val95Leu) c.178G>T (p.Val60Leu) | |
3 | g.122261802T>A | CA354151312 | CASR | c.767T>A (p.Val256Glu) c.284T>A (p.Val95Glu) c.179T>A (p.Val60Glu) | |
3 | g.122261802T>C | CA354151313 | CASR | c.767T>C (p.Val256Ala) c.284T>C (p.Val95Ala) c.179T>C (p.Val60Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122261802T>G | CA354151314 | CASR | c.767T>G (p.Val256Gly) c.284T>G (p.Val95Gly) c.179T>G (p.Val60Gly) | |
3 | g.122261802T= | CA1397873086 | CASR | c.767T= (p.Val256=) c.284T= (p.Val95=) c.179T= (p.Val60=) | |
3 | g.122261803A>C | CA435424319 | CASR | c.768A>C (p.Val256=) c.285A>C (p.Val95=) c.180A>C (p.Val60=) | |
3 | g.122261803A>G | CA435424321 | CASR | c.768A>G (p.Val256=) c.285A>G (p.Val95=) c.180A>G (p.Val60=) | dbSNP |
3 | g.122261803A>T | CA435424322 | CASR | c.768A>T (p.Val256=) c.285A>T (p.Val95=) c.180A>T (p.Val60=) | |
3 | g.122261804G>A | CA354151315 | CASR | c.769G>A (p.Glu257Lys) c.286G>A (p.Glu96Lys) c.181G>A (p.Glu61Lys) | |
3 | g.122261804G>C | CA354151316 | CASR | c.769G>C (p.Glu257Gln) c.286G>C (p.Glu96Gln) c.181G>C (p.Glu61Gln) | |
3 | g.122261804G>T | CA354151317 | CASR | c.769G>T (p.Glu257Ter) c.286G>T (p.Glu96Ter) c.181G>T (p.Glu61Ter) | |
3 | g.122261805A= | CA1397873087 | CASR | c.770A= (p.Glu257=) c.287A= (p.Glu96=) c.182A= (p.Glu61=) | |
3 | g.122261805A>C | CA354151318 | CASR | c.770A>C (p.Glu257Ala) c.287A>C (p.Glu96Ala) c.182A>C (p.Glu61Ala) | |
3 | g.122261805A>G | CA2569532 | CASR | c.770A>G (p.Glu257Gly) c.287A>G (p.Glu96Gly) c.182A>G (p.Glu61Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261805A>T | CA354151319 | CASR | c.770A>T (p.Glu257Val) c.287A>T (p.Glu96Val) c.182A>T (p.Glu61Val) | |
3 | g.122261806G>A | CA435424329 | CASR | c.771G>A (p.Glu257=) c.288G>A (p.Glu96=) c.183G>A (p.Glu61=) | |
3 | g.122261806G>C | CA354151320 | CASR | c.771G>C (p.Glu257Asp) c.288G>C (p.Glu96Asp) c.183G>C (p.Glu61Asp) | |
3 | g.122261806G>T | CA354151321 | CASR | c.771G>T (p.Glu257Asp) c.288G>T (p.Glu96Asp) c.183G>T (p.Glu61Asp) | |
3 | g.122261807G>A | CA354151324 | CASR | c.772G>A (p.Val258Met) c.289G>A (p.Val97Met) c.184G>A (p.Val62Met) | |
3 | g.122261807G>C | CA354151323 | CASR | c.772G>C (p.Val258Leu) c.289G>C (p.Val97Leu) c.184G>C (p.Val62Leu) | |
3 | g.122261807G>T | CA354151322 | CASR | c.772G>T (p.Val258Leu) c.289G>T (p.Val97Leu) c.184G>T (p.Val62Leu) | |
3 | g.122261807_122261808delinsA | CA2580068638 | CASR | c.772_773delinsA (p.Val258ArgfsTer?) c.289_290delinsA (p.Val97ArgfsTer?) c.184_185delinsA (p.Val62ArgfsTer?) | ClinVar |
3 | g.122261808T>A | CA354151325 | CASR | c.773T>A (p.Val258Glu) c.290T>A (p.Val97Glu) c.185T>A (p.Val62Glu) | gnomAD v4 |
3 | g.122261808T>C | CA2569533 | CASR | c.773T>C (p.Val258Ala) c.290T>C (p.Val97Ala) c.185T>C (p.Val62Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261808T>G | CA354151326 | CASR | c.773T>G (p.Val258Gly) c.290T>G (p.Val97Gly) c.185T>G (p.Val62Gly) | |
3 | g.122261808T= | CA1397873089 | CASR | c.773T= (p.Val258=) c.290T= (p.Val97=) c.185T= (p.Val62=) | |
3 | g.122261809G>A | CA435424339 | CASR | c.774G>A (p.Val258=) c.291G>A (p.Val97=) c.186G>A (p.Val62=) | |
3 | g.122261809G>C | CA435424340 | CASR | c.774G>C (p.Val258=) c.291G>C (p.Val97=) c.186G>C (p.Val62=) | |
3 | g.122261809G>T | CA435424341 | CASR | c.774G>T (p.Val258=) c.291G>T (p.Val97=) c.186G>T (p.Val62=) | |
3 | g.122261810A>C | CA354151327 | CASR | c.775A>C (p.Ile259Leu) c.292A>C (p.Ile98Leu) c.187A>C (p.Ile63Leu) | |
3 | g.122261810A>G | CA354151328 | CASR | c.775A>G (p.Ile259Val) c.292A>G (p.Ile98Val) c.187A>G (p.Ile63Val) | |
3 | g.122261810A>T | CA354151329 | CASR | c.775A>T (p.Ile259Phe) c.292A>T (p.Ile98Phe) c.187A>T (p.Ile63Phe) | |
3 | g.122261811T>A | CA354151330 | CASR | c.776T>A (p.Ile259Asn) c.293T>A (p.Ile98Asn) c.188T>A (p.Ile63Asn) | |
3 | g.122261811T>C | CA354151331 | CASR | c.776T>C (p.Ile259Thr) c.293T>C (p.Ile98Thr) c.188T>C (p.Ile63Thr) | ClinVar dbSNP gnomAD v2 |
3 | g.122261811T>G | CA354151332 | CASR | c.776T>G (p.Ile259Ser) c.293T>G (p.Ile98Ser) c.188T>G (p.Ile63Ser) | |
3 | g.122261811T= | CA1397873091 | CASR | c.776T= (p.Ile259=) c.293T= (p.Ile98=) c.188T= (p.Ile63=) | |
3 | g.122261812T>A | CA435424347 | CASR | c.777T>A (p.Ile259=) c.294T>A (p.Ile98=) c.189T>A (p.Ile63=) | |
3 | g.122261812T>C | CA435424348 | CASR | c.777T>C (p.Ile259=) c.294T>C (p.Ile98=) c.189T>C (p.Ile63=) | |
3 | g.122261812T>G | CA354151333 | CASR | c.777T>G (p.Ile259Met) c.294T>G (p.Ile98Met) c.189T>G (p.Ile63Met) | |
3 | g.122261813C>A | CA354151334 | CASR | c.778C>A (p.Gln260Lys) c.295C>A (p.Gln99Lys) c.190C>A (p.Gln64Lys) | |
3 | g.122261813C= | CA1397873092 | CASR | c.778C= (p.Gln260=) c.295C= (p.Gln99=) c.190C= (p.Gln64=) | |
3 | g.122261813C>G | CA354151335 | CASR | c.778C>G (p.Gln260Glu) c.295C>G (p.Gln99Glu) c.190C>G (p.Gln64Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.122261813C>T | CA354151336 | CASR | c.778C>T (p.Gln260Ter) c.295C>T (p.Gln99Ter) c.190C>T (p.Gln64Ter) | |
3 | g.122261814A= | CA1397873095 | CASR | c.779A= (p.Gln260=) c.296A= (p.Gln99=) c.191A= (p.Gln64=) | |
3 | g.122261814A>C | CA354151337 | CASR | c.779A>C (p.Gln260Pro) c.296A>C (p.Gln99Pro) c.191A>C (p.Gln64Pro) | |
3 | g.122261814A>G | CA2569534 | CASR | c.779A>G (p.Gln260Arg) c.296A>G (p.Gln99Arg) c.191A>G (p.Gln64Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261814A>T | CA354151338 | CASR | c.779A>T (p.Gln260Leu) c.296A>T (p.Gln99Leu) c.191A>T (p.Gln64Leu) | |
3 | g.122261815A= | CA1397873097 | CASR | c.780A= (p.Gln260=) c.297A= (p.Gln99=) c.192A= (p.Gln64=) | |
3 | g.122261815A>C | CA354151339 | CASR | c.780A>C (p.Gln260His) c.297A>C (p.Gln99His) c.192A>C (p.Gln64His) | |
3 | g.122261815A>G | CA16611290 | CASR | c.780A>G (p.Gln260=) c.297A>G (p.Gln99=) c.192A>G (p.Gln64=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261815A>T | CA354151340 | CASR | c.780A>T (p.Gln260His) c.297A>T (p.Gln99His) c.192A>T (p.Gln64His) | |
3 | g.122261816A>C | CA354151341 | CASR | c.781A>C (p.Asn261His) c.298A>C (p.Asn100His) c.193A>C (p.Asn65His) | |
3 | g.122261816A>G | CA354151342 | CASR | c.781A>G (p.Asn261Asp) c.298A>G (p.Asn100Asp) c.193A>G (p.Asn65Asp) | |
3 | g.122261816A>T | CA354151343 | CASR | c.781A>T (p.Asn261Tyr) c.298A>T (p.Asn100Tyr) c.193A>T (p.Asn65Tyr) | |
3 | g.122261817A= | CA1397873099 | CASR | c.782A= (p.Asn261=) c.299A= (p.Asn100=) c.194A= (p.Asn65=) | |
3 | g.122261817A>C | CA354151344 | CASR | c.782A>C (p.Asn261Thr) c.299A>C (p.Asn100Thr) c.194A>C (p.Asn65Thr) | ClinVar dbSNP |
3 | g.122261817A>G | CA354151345 | CASR | c.782A>G (p.Asn261Ser) c.299A>G (p.Asn100Ser) c.194A>G (p.Asn65Ser) | |
3 | g.122261817A>T | CA354151346 | CASR | c.782A>T (p.Asn261Ile) c.299A>T (p.Asn100Ile) c.194A>T (p.Asn65Ile) | |
3 | g.122261818T>A | CA354151347 | CASR | c.783T>A (p.Asn261Lys) c.300T>A (p.Asn100Lys) c.195T>A (p.Asn65Lys) | |
3 | g.122261818T>C | CA435424356 | CASR | c.783T>C (p.Asn261=) c.300T>C (p.Asn100=) c.195T>C (p.Asn65=) | ClinVar dbSNP |
3 | g.122261818T>G | CA354151348 | CASR | c.783T>G (p.Asn261Lys) c.300T>G (p.Asn100Lys) c.195T>G (p.Asn65Lys) | |
3 | g.122261818T= | CA1397873100 | CASR | c.783T= (p.Asn261=) c.300T= (p.Asn100=) c.195T= (p.Asn65=) | |
3 | g.122261819T>A | CA354151349 | CASR | c.784T>A (p.Ser262Thr) c.301T>A (p.Ser101Thr) c.196T>A (p.Ser66Thr) | |
3 | g.122261819T>C | CA354151350 | CASR | c.784T>C (p.Ser262Pro) c.301T>C (p.Ser101Pro) c.196T>C (p.Ser66Pro) | |
3 | g.122261819T>G | CA354151351 | CASR | c.784T>G (p.Ser262Ala) c.301T>G (p.Ser101Ala) c.196T>G (p.Ser66Ala) | |
3 | g.122261820C>A | CA354151353 | CASR | c.785C>A (p.Ser262Tyr) c.302C>A (p.Ser101Tyr) c.197C>A (p.Ser66Tyr) | |
3 | g.122261820C>G | CA354151354 | CASR | c.785C>G (p.Ser262Cys) c.302C>G (p.Ser101Cys) c.197C>G (p.Ser66Cys) | |
3 | g.122261820C>T | CA354151352 | CASR | c.785C>T (p.Ser262Phe) c.302C>T (p.Ser101Phe) c.197C>T (p.Ser66Phe) | |
3 | g.122261821C>A | CA435424364 | CASR | c.786C>A (p.Ser262=) c.303C>A (p.Ser101=) c.198C>A (p.Ser66=) | |
3 | g.122261821C>G | CA435424365 | CASR | c.786C>G (p.Ser262=) c.303C>G (p.Ser101=) c.198C>G (p.Ser66=) | |
3 | g.122261821C>T | CA435424368 | CASR | c.786C>T (p.Ser262=) c.303C>T (p.Ser101=) c.198C>T (p.Ser66=) | |
3 | g.122261822A= | CA1397873102 | CASR | c.787A= (p.Thr263=) c.304A= (p.Thr102=) c.199A= (p.Thr67=) | |
3 | g.122261822A>C | CA354151355 | CASR | c.787A>C (p.Thr263Pro) c.304A>C (p.Thr102Pro) c.199A>C (p.Thr67Pro) | |
3 | g.122261822A>G | CA354151356 | CASR | c.787A>G (p.Thr263Ala) c.304A>G (p.Thr102Ala) c.199A>G (p.Thr67Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261822A>T | CA354151357 | CASR | c.787A>T (p.Thr263Ser) c.304A>T (p.Thr102Ser) c.199A>T (p.Thr67Ser) | |
3 | g.122261823C>A | CA2569536 | CASR | c.788C>A (p.Thr263Lys) c.305C>A (p.Thr102Lys) c.200C>A (p.Thr67Lys) | dbSNP ExAC |
3 | g.122261823C= | CA1397873104 | CASR | c.788C= (p.Thr263=) c.305C= (p.Thr102=) c.200C= (p.Thr67=) | |
3 | g.122261823C>G | CA354151358 | CASR | c.788C>G (p.Thr263Arg) c.305C>G (p.Thr102Arg) c.200C>G (p.Thr67Arg) | |
3 | g.122261823C>T | CA2569535 | CASR | c.788C>T (p.Thr263Met) c.305C>T (p.Thr102Met) c.200C>T (p.Thr67Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261824G>A | CA82738552 | CASR | c.789G>A (p.Thr263=) c.306G>A (p.Thr102=) c.201G>A (p.Thr67=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261824G>C | CA435424372 | CASR | c.789G>C (p.Thr263=) c.306G>C (p.Thr102=) c.201G>C (p.Thr67=) | |
3 | g.122261824G= | CA1397873106 | CASR | c.789G= (p.Thr263=) c.306G= (p.Thr102=) c.201G= (p.Thr67=) | |
3 | g.122261824G>T | CA435424374 | CASR | c.789G>T (p.Thr263=) c.306G>T (p.Thr102=) c.201G>T (p.Thr67=) | gnomAD v4 |
3 | g.122261825G>A | CA354151359 | CASR | c.790G>A (p.Ala264Thr) c.307G>A (p.Ala103Thr) c.202G>A (p.Ala68Thr) | ClinVar COSMIC |
3 | g.122261825G>C | CA354151360 | CASR | c.790G>C (p.Ala264Pro) c.307G>C (p.Ala103Pro) c.202G>C (p.Ala68Pro) | |
3 | g.122261825G>T | CA354151361 | CASR | c.790G>T (p.Ala264Ser) c.307G>T (p.Ala103Ser) c.202G>T (p.Ala68Ser) | |
3 | g.122261826C>A | CA354151362 | CASR | c.791C>A (p.Ala264Asp) c.308C>A (p.Ala103Asp) c.203C>A (p.Ala68Asp) | |
3 | g.122261826C>G | CA354151363 | CASR | c.791C>G (p.Ala264Gly) c.308C>G (p.Ala103Gly) c.203C>G (p.Ala68Gly) | ClinVar |
3 | g.122261826C>T | CA354151364 | CASR | c.791C>T (p.Ala264Val) c.308C>T (p.Ala103Val) c.203C>T (p.Ala68Val) | ClinVar gnomAD v4 |
3 | g.122261827del | CA2603853746 | CASR | c.792del (p.Val266SerfsTer?) c.309del (p.Val105SerfsTer?) c.204del (p.Val70SerfsTer?) | gnomAD v3 gnomAD v4 |
3 | g.122261827C>A | CA435424375 | CASR | c.792C>A (p.Ala264=) c.309C>A (p.Ala103=) c.204C>A (p.Ala68=) | |
3 | g.122261827C>G | CA435424376 | CASR | c.792C>G (p.Ala264=) c.309C>G (p.Ala103=) c.204C>G (p.Ala68=) | |
3 | g.122261827C>T | CA435424377 | CASR | c.792C>T (p.Ala264=) c.309C>T (p.Ala103=) c.204C>T (p.Ala68=) | |
3 | g.122261828A>C | CA354151367 | CASR | c.793A>C (p.Lys265Gln) c.310A>C (p.Lys104Gln) c.205A>C (p.Lys69Gln) | |
3 | g.122261828A>G | CA354151366 | CASR | c.793A>G (p.Lys265Glu) c.310A>G (p.Lys104Glu) c.205A>G (p.Lys69Glu) | |
3 | g.122261828A>T | CA354151365 | CASR | c.793A>T (p.Lys265Ter) c.310A>T (p.Lys104Ter) c.205A>T (p.Lys69Ter) | |
3 | g.122261829A>C | CA354151368 | CASR | c.794A>C (p.Lys265Thr) c.311A>C (p.Lys104Thr) c.206A>C (p.Lys69Thr) | |
3 | g.122261829A>G | CA354151369 | CASR | c.794A>G (p.Lys265Arg) c.311A>G (p.Lys104Arg) c.206A>G (p.Lys69Arg) | ClinVar |
3 | g.122261829A>T | CA354151370 | CASR | c.794A>T (p.Lys265Ile) c.311A>T (p.Lys104Ile) c.206A>T (p.Lys69Ile) | |
3 | g.122261830A>C | CA354151371 | CASR | c.795A>C (p.Lys265Asn) c.312A>C (p.Lys104Asn) c.207A>C (p.Lys69Asn) | |
3 | g.122261830A>G | CA435424382 | CASR | c.795A>G (p.Lys265=) c.312A>G (p.Lys104=) c.207A>G (p.Lys69=) | ClinVar dbSNP |
3 | g.122261830A>T | CA354151372 | CASR | c.795A>T (p.Lys265Asn) c.312A>T (p.Lys104Asn) c.207A>T (p.Lys69Asn) | |
3 | g.122261831G>A | CA354151373 | CASR | c.796G>A (p.Val266Ile) c.313G>A (p.Val105Ile) c.208G>A (p.Val70Ile) | ClinVar dbSNP |
3 | g.122261831G>C | CA354151374 | CASR | c.796G>C (p.Val266Leu) c.313G>C (p.Val105Leu) c.208G>C (p.Val70Leu) | |
3 | g.122261831G= | CA1397873108 | CASR | c.796G= (p.Val266=) c.313G= (p.Val105=) c.208G= (p.Val70=) | |
3 | g.122261831G>T | CA354151375 | CASR | c.796G>T (p.Val266Phe) c.313G>T (p.Val105Phe) c.208G>T (p.Val70Phe) | |
3 | g.122261832T>A | CA354151376 | CASR | c.797T>A (p.Val266Asp) c.314T>A (p.Val105Asp) c.209T>A (p.Val70Asp) | |
3 | g.122261832T>C | CA354151377 | CASR | c.797T>C (p.Val266Ala) c.314T>C (p.Val105Ala) c.209T>C (p.Val70Ala) | |
3 | g.122261832T>G | CA354151378 | CASR | c.797T>G (p.Val266Gly) c.314T>G (p.Val105Gly) c.209T>G (p.Val70Gly) | ClinVar |
3 | g.122261833C>A | CA435424389 | CASR | c.798C>A (p.Val266=) c.315C>A (p.Val105=) c.210C>A (p.Val70=) | |
3 | g.122261833C>G | CA435424387 | CASR | c.798C>G (p.Val266=) c.315C>G (p.Val105=) c.210C>G (p.Val70=) | |
3 | g.122261833C>T | CA435424388 | CASR | c.798C>T (p.Val266=) c.315C>T (p.Val105=) c.210C>T (p.Val70=) | ClinVar gnomAD v4 |
3 | g.122261834A>C | CA354151379 | CASR | c.799A>C (p.Ile267Leu) c.316A>C (p.Ile106Leu) c.211A>C (p.Ile71Leu) | |
3 | g.122261834A>G | CA354151380 | CASR | c.799A>G (p.Ile267Val) c.316A>G (p.Ile106Val) c.211A>G (p.Ile71Val) | |
3 | g.122261834A>T | CA354151381 | CASR | c.799A>T (p.Ile267Phe) c.316A>T (p.Ile106Phe) c.211A>T (p.Ile71Phe) | |
3 | g.122261835T>A | CA354151383 | CASR | c.800T>A (p.Ile267Asn) c.317T>A (p.Ile106Asn) c.212T>A (p.Ile71Asn) | |
3 | g.122261835T>C | CA354151384 | CASR | c.800T>C (p.Ile267Thr) c.317T>C (p.Ile106Thr) c.212T>C (p.Ile71Thr) | |
3 | g.122261835T>G | CA354151382 | CASR | c.800T>G (p.Ile267Ser) c.317T>G (p.Ile106Ser) c.212T>G (p.Ile71Ser) | |
3 | g.122261836C>A | CA2569537 | CASR | c.801C>A (p.Ile267=) c.318C>A (p.Ile106=) c.213C>A (p.Ile71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261836C= | CA1397873109 | CASR | c.801C= (p.Ile267=) c.318C= (p.Ile106=) c.213C= (p.Ile71=) | |
3 | g.122261836C>G | CA354151385 | CASR | c.801C>G (p.Ile267Met) c.318C>G (p.Ile106Met) c.213C>G (p.Ile71Met) | |
3 | g.122261836C>T | CA82738553 | CASR | c.801C>T (p.Ile267=) c.318C>T (p.Ile106=) c.213C>T (p.Ile71=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261837G>A | CA354151386 | CASR | c.802G>A (p.Val268Met) c.319G>A (p.Val107Met) c.214G>A (p.Val72Met) | ClinVar dbSNP gnomAD v4 |
3 | g.122261837G>C | CA354151388 | CASR | c.802G>C (p.Val268Leu) c.319G>C (p.Val107Leu) c.214G>C (p.Val72Leu) | |
3 | g.122261837G= | CA1397873111 | CASR | c.802G= (p.Val268=) c.319G= (p.Val107=) c.214G= (p.Val72=) | |
3 | g.122261837G>T | CA354151387 | CASR | c.802G>T (p.Val268Leu) c.319G>T (p.Val107Leu) c.214G>T (p.Val72Leu) | gnomAD v4 |
3 | g.122261838T>A | CA354151389 | CASR | c.803T>A (p.Val268Glu) c.320T>A (p.Val107Glu) c.215T>A (p.Val72Glu) | |
3 | g.122261838T>C | CA354151390 | CASR | c.803T>C (p.Val268Ala) c.320T>C (p.Val107Ala) c.215T>C (p.Val72Ala) | |
3 | g.122261838T>G | CA354151391 | CASR | c.803T>G (p.Val268Gly) c.320T>G (p.Val107Gly) c.215T>G (p.Val72Gly) | |
3 | g.122261839G>A | CA435424398 | CASR | c.804G>A (p.Val268=) c.321G>A (p.Val107=) c.216G>A (p.Val72=) | |
3 | g.122261839G>C | CA435424401 | CASR | c.804G>C (p.Val268=) c.321G>C (p.Val107=) c.216G>C (p.Val72=) | |
3 | g.122261839G>T | CA435424400 | CASR | c.804G>T (p.Val268=) c.321G>T (p.Val107=) c.216G>T (p.Val72=) | |
3 | g.122261840_122261850del | CA2586972805 | CASR | c.805_815del (p.Val269TrpfsTer5) c.322_332del (p.Val108TrpfsTer5) c.217_227del (p.Val73TrpfsTer5) | |
3 | g.122261840G>A | CA354151392 | CASR | c.805G>A (p.Val269Ile) c.322G>A (p.Val108Ile) c.217G>A (p.Val73Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261840G>C | CA354151393 | CASR | c.805G>C (p.Val269Leu) c.322G>C (p.Val108Leu) c.217G>C (p.Val73Leu) | |
3 | g.122261840G= | CA1397873113 | CASR | c.805G= (p.Val269=) c.322G= (p.Val108=) c.217G= (p.Val73=) | |
3 | g.122261840G>T | CA354151394 | CASR | c.805G>T (p.Val269Phe) c.322G>T (p.Val108Phe) c.217G>T (p.Val73Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261841T>A | CA354151395 | CASR | c.806T>A (p.Val269Asp) c.323T>A (p.Val108Asp) c.218T>A (p.Val73Asp) | |
3 | g.122261841T>C | CA354151396 | CASR | c.806T>C (p.Val269Ala) c.323T>C (p.Val108Ala) c.218T>C (p.Val73Ala) | |
3 | g.122261841T>G | CA354151397 | CASR | c.806T>G (p.Val269Gly) c.323T>G (p.Val108Gly) c.218T>G (p.Val73Gly) | |
3 | g.122261842T>A | CA435424405 | CASR | c.807T>A (p.Val269=) c.324T>A (p.Val108=) c.219T>A (p.Val73=) | |
3 | g.122261842T>C | CA435424406 | CASR | c.807T>C (p.Val269=) c.324T>C (p.Val108=) c.219T>C (p.Val73=) | |
3 | g.122261842T>G | CA435424407 | CASR | c.807T>G (p.Val269=) c.324T>G (p.Val108=) c.219T>G (p.Val73=) | |
3 | g.122261843T>A | CA354151398 | CASR | c.808T>A (p.Phe270Ile) c.325T>A (p.Phe109Ile) c.220T>A (p.Phe74Ile) | |
3 | g.122261843T>C | CA354151399 | CASR | c.808T>C (p.Phe270Leu) c.325T>C (p.Phe109Leu) c.220T>C (p.Phe74Leu) | COSMIC |
3 | g.122261843T>G | CA354151400 | CASR | c.808T>G (p.Phe270Val) c.325T>G (p.Phe109Val) c.220T>G (p.Phe74Val) | |
3 | g.122261844T>A | CA354151401 | CASR | c.809T>A (p.Phe270Tyr) c.326T>A (p.Phe109Tyr) c.221T>A (p.Phe74Tyr) | gnomAD v4 |
3 | g.122261844T>C | CA354151403 | CASR | c.809T>C (p.Phe270Ser) c.326T>C (p.Phe109Ser) c.221T>C (p.Phe74Ser) | |
3 | g.122261844T>G | CA354151402 | CASR | c.809T>G (p.Phe270Cys) c.326T>G (p.Phe109Cys) c.221T>G (p.Phe74Cys) | |
3 | g.122261845C>A | CA354151404 | CASR | c.810C>A (p.Phe270Leu) c.327C>A (p.Phe109Leu) c.222C>A (p.Phe74Leu) | gnomAD v4 |
3 | g.122261845C>G | CA354151405 | CASR | c.810C>G (p.Phe270Leu) c.327C>G (p.Phe109Leu) c.222C>G (p.Phe74Leu) | |
3 | g.122261845C>T | CA435424410 | CASR | c.810C>T (p.Phe270=) c.327C>T (p.Phe109=) c.222C>T (p.Phe74=) | |
3 | g.122261846T>A | CA354151406 | CASR | c.811T>A (p.Ser271Thr) c.328T>A (p.Ser110Thr) c.223T>A (p.Ser75Thr) | |
3 | g.122261846T>C | CA354151407 | CASR | c.811T>C (p.Ser271Pro) c.328T>C (p.Ser110Pro) c.223T>C (p.Ser75Pro) | ClinVar gnomAD v4 |
3 | g.122261846T>G | CA354151408 | CASR | c.811T>G (p.Ser271Ala) c.328T>G (p.Ser110Ala) c.223T>G (p.Ser75Ala) | |
3 | g.122261847C>A | CA354151409 | CASR | c.812C>A (p.Ser271Tyr) c.329C>A (p.Ser110Tyr) c.224C>A (p.Ser75Tyr) | |
3 | g.122261847C>G | CA354151410 | CASR | c.812C>G (p.Ser271Cys) c.329C>G (p.Ser110Cys) c.224C>G (p.Ser75Cys) | |
3 | g.122261847C>T | CA354151411 | CASR | c.812C>T (p.Ser271Phe) c.329C>T (p.Ser110Phe) c.224C>T (p.Ser75Phe) | COSMIC |
3 | g.122261848C>A | CA2569538 | CASR | c.813C>A (p.Ser271=) c.330C>A (p.Ser110=) c.225C>A (p.Ser75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261848C= | CA1397873115 | CASR | c.813C= (p.Ser271=) c.330C= (p.Ser110=) c.225C= (p.Ser75=) | |
3 | g.122261848C>G | CA435424416 | CASR | c.813C>G (p.Ser271=) c.330C>G (p.Ser110=) c.225C>G (p.Ser75=) | |
3 | g.122261848C>T | CA435424418 | CASR | c.813C>T (p.Ser271=) c.330C>T (p.Ser110=) c.225C>T (p.Ser75=) | |
3 | g.122261849A= | CA1397873116 | CASR | c.814A= (p.Ser272=) c.331A= (p.Ser111=) c.226A= (p.Ser76=) | |
3 | g.122261849A>C | CA354151413 | CASR | c.814A>C (p.Ser272Arg) c.331A>C (p.Ser111Arg) c.226A>C (p.Ser76Arg) | |
3 | g.122261849A>G | CA2569539 | CASR | c.814A>G (p.Ser272Gly) c.331A>G (p.Ser111Gly) c.226A>G (p.Ser76Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261849A>T | CA354151412 | CASR | c.814A>T (p.Ser272Cys) c.331A>T (p.Ser111Cys) c.226A>T (p.Ser76Cys) | |
3 | g.122261850G>A | CA354151414 | CASR | c.815G>A (p.Ser272Asn) c.332G>A (p.Ser111Asn) c.227G>A (p.Ser76Asn) | ClinVar dbSNP |
3 | g.122261850G>C | CA354151415 | CASR | c.815G>C (p.Ser272Thr) c.332G>C (p.Ser111Thr) c.227G>C (p.Ser76Thr) | |
3 | g.122261850G= | CA1397873118 | CASR | c.815G= (p.Ser272=) c.332G= (p.Ser111=) c.227G= (p.Ser76=) | |
3 | g.122261850G>T | CA354151416 | CASR | c.815G>T (p.Ser272Ile) c.332G>T (p.Ser111Ile) c.227G>T (p.Ser76Ile) | |
3 | g.122261851T>A | CA354151417 | CASR | c.816T>A (p.Ser272Arg) c.333T>A (p.Ser111Arg) c.228T>A (p.Ser76Arg) | ClinVar dbSNP |
3 | g.122261851T>C | CA435424420 | CASR | c.816T>C (p.Ser272=) c.333T>C (p.Ser111=) c.228T>C (p.Ser76=) | ClinVar |
3 | g.122261851T>G | CA354151418 | CASR | c.816T>G (p.Ser272Arg) c.333T>G (p.Ser111Arg) c.228T>G (p.Ser76Arg) | |
3 | g.122261851_122261853delinsTGG | CA1397873120 | CASR | c.816_818delinsTGG (p.Ser272=) c.333_335delinsTGG (p.Ser111=) c.228_230delinsTGG (p.Ser76=) | |
3 | g.122261852G>A | CA354151419 | CASR | c.817G>A (p.Gly273Ser) c.334G>A (p.Gly112Ser) c.229G>A (p.Gly77Ser) | |
3 | g.122261852G>C | CA354151420 | CASR | c.817G>C (p.Gly273Arg) c.334G>C (p.Gly112Arg) c.229G>C (p.Gly77Arg) | |
3 | g.122261852G>T | CA354151421 | CASR | c.817G>T (p.Gly273Cys) c.334G>T (p.Gly112Cys) c.229G>T (p.Gly77Cys) | |
3 | g.122261852_122261853del | CA2569540 | CASR | c.817_818del (p.Gly273ProfsTer4) c.334_335del (p.Gly112ProfsTer4) c.229_230del (p.Gly77ProfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261853G>A | CA354151422 | CASR | c.818G>A (p.Gly273Asp) c.335G>A (p.Gly112Asp) c.230G>A (p.Gly77Asp) | |
3 | g.122261853G>C | CA354151423 | CASR | c.818G>C (p.Gly273Ala) c.335G>C (p.Gly112Ala) c.230G>C (p.Gly77Ala) | ClinVar dbSNP |
3 | g.122261853G= | CA1397873122 | CASR | c.818G= (p.Gly273=) c.335G= (p.Gly112=) c.230G= (p.Gly77=) | |
3 | g.122261853G>T | CA354151424 | CASR | c.818G>T (p.Gly273Val) c.335G>T (p.Gly112Val) c.230G>T (p.Gly77Val) | |
3 | g.122261854C>A | CA435424423 | CASR | c.819C>A (p.Gly273=) c.336C>A (p.Gly112=) c.231C>A (p.Gly77=) | |
3 | g.122261854C>G | CA435424422 | CASR | c.819C>G (p.Gly273=) c.336C>G (p.Gly112=) c.231C>G (p.Gly77=) | |
3 | g.122261854C>T | CA435424421 | CASR | c.819C>T (p.Gly273=) c.336C>T (p.Gly112=) c.231C>T (p.Gly77=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261855C>A | CA354151427 | CASR | c.820C>A (p.Pro274Thr) c.337C>A (p.Pro113Thr) c.232C>A (p.Pro78Thr) | ClinVar |
3 | g.122261855C= | CA1397873123 | CASR | c.820C= (p.Pro274=) c.337C= (p.Pro113=) c.232C= (p.Pro78=) | |
3 | g.122261855C>G | CA354151425 | CASR | c.820C>G (p.Pro274Ala) c.337C>G (p.Pro113Ala) c.232C>G (p.Pro78Ala) | ClinVar |
3 | g.122261855C>T | CA354151426 | CASR | c.820C>T (p.Pro274Ser) c.337C>T (p.Pro113Ser) c.232C>T (p.Pro78Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261856C>A | CA354151428 | CASR | c.821C>A (p.Pro274Gln) c.338C>A (p.Pro113Gln) c.233C>A (p.Pro78Gln) | |
3 | g.122261856C= | CA1397873125 | CASR | c.821C= (p.Pro274=) c.338C= (p.Pro113=) c.233C= (p.Pro78=) | |
3 | g.122261856C>G | CA354151429 | CASR | c.821C>G (p.Pro274Arg) c.338C>G (p.Pro113Arg) c.233C>G (p.Pro78Arg) | |
3 | g.122261856C>T | CA82738561 | CASR | c.821C>T (p.Pro274Leu) c.338C>T (p.Pro113Leu) c.233C>T (p.Pro78Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122261856_122261858delinsCAG | CA1397873124 | CASR | c.821_823delinsCAG (p.Pro274=) c.338_340delinsCAG (p.Pro113=) c.233_235delinsCAG (p.Pro78=) | |
3 | g.122261857A= | CA1397873128 | CASR | c.822A= (p.Pro274=) c.339A= (p.Pro113=) c.234A= (p.Pro78=) | |
3 | g.122261857A>C | CA435424428 | CASR | c.822A>C (p.Pro274=) c.339A>C (p.Pro113=) c.234A>C (p.Pro78=) | dbSNP |
3 | g.122261857A>G | CA435424426 | CASR | c.822A>G (p.Pro274=) c.339A>G (p.Pro113=) c.234A>G (p.Pro78=) | |
3 | g.122261857A>T | CA435424425 | CASR | c.822A>T (p.Pro274=) c.339A>T (p.Pro113=) c.234A>T (p.Pro78=) | |
3 | g.122261858_122261859del | CA658657326 | CASR | c.823_824del (p.Asp275SerfsTer2) c.340_341del (p.Asp114SerfsTer2) c.235_236del (p.Asp79SerfsTer2) | ClinVar dbSNP |
3 | g.122261858G>A | CA354151430 | CASR | c.823G>A (p.Asp275Asn) c.340G>A (p.Asp114Asn) c.235G>A (p.Asp79Asn) | COSMIC |
3 | g.122261858G>C | CA354151431 | CASR | c.823G>C (p.Asp275His) c.340G>C (p.Asp114His) c.235G>C (p.Asp79His) | |
3 | g.122261858G= | CA1397873130 | CASR | c.823G= (p.Asp275=) c.340G= (p.Asp114=) c.235G= (p.Asp79=) | |
3 | g.122261858G>T | CA354151432 | CASR | c.823G>T (p.Asp275Tyr) c.340G>T (p.Asp114Tyr) c.235G>T (p.Asp79Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261859A>C | CA354151433 | CASR | c.824A>C (p.Asp275Ala) c.341A>C (p.Asp114Ala) c.236A>C (p.Asp79Ala) | |
3 | g.122261859A>G | CA354151434 | CASR | c.824A>G (p.Asp275Gly) c.341A>G (p.Asp114Gly) c.236A>G (p.Asp79Gly) | |
3 | g.122261859A>T | CA354151435 | CASR | c.824A>T (p.Asp275Val) c.341A>T (p.Asp114Val) c.236A>T (p.Asp79Val) | |
3 | g.122261860T>A | CA354151436 | CASR | c.825T>A (p.Asp275Glu) c.342T>A (p.Asp114Glu) c.237T>A (p.Asp79Glu) | |
3 | g.122261860T>C | CA2569541 | CASR | c.825T>C (p.Asp275=) c.342T>C (p.Asp114=) c.237T>C (p.Asp79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261860T>G | CA354151437 | CASR | c.825T>G (p.Asp275Glu) c.342T>G (p.Asp114Glu) c.237T>G (p.Asp79Glu) | |
3 | g.122261860T= | CA1397873131 | CASR | c.825T= (p.Asp275=) c.342T= (p.Asp114=) c.237T= (p.Asp79=) | |
3 | g.122261861C>A | CA354151440 | CASR | c.826C>A (p.Leu276Ile) c.343C>A (p.Leu115Ile) c.238C>A (p.Leu80Ile) | ClinVar gnomAD v4 |
3 | g.122261861C>G | CA354151439 | CASR | c.826C>G (p.Leu276Val) c.343C>G (p.Leu115Val) c.238C>G (p.Leu80Val) | |
3 | g.122261861C>T | CA354151438 | CASR | c.826C>T (p.Leu276Phe) c.343C>T (p.Leu115Phe) c.238C>T (p.Leu80Phe) | COSMIC |
3 | g.122261862T>A | CA354151441 | CASR | c.827T>A (p.Leu276His) c.344T>A (p.Leu115His) c.239T>A (p.Leu80His) | |
3 | g.122261862T>C | CA354151443 | CASR | c.827T>C (p.Leu276Pro) c.344T>C (p.Leu115Pro) c.239T>C (p.Leu80Pro) | |
3 | g.122261862T>G | CA354151442 | CASR | c.827T>G (p.Leu276Arg) c.344T>G (p.Leu115Arg) c.239T>G (p.Leu80Arg) |