Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46895782G>ACA352492079PTH1Rc.226G>A (p.Gly76Arg)
n.246G>A
c.133G>A (p.Gly45Arg)
c.265G>A (p.Gly89Arg)
c.247G>A (p.Gly83Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.46895782G>CCA2359123PTH1Rc.226G>C (p.Gly76Arg)
n.246G>C
c.133G>C (p.Gly45Arg)
c.265G>C (p.Gly89Arg)
c.247G>C (p.Gly83Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895782G=CA1362307942PTH1Rc.226G= (p.Gly76=)
n.246G=
c.133G= (p.Gly45=)
c.265G= (p.Gly89=)
c.247G= (p.Gly83=)
3g.46895782G>TCA352492080PTH1Rc.226G>T (p.Gly76Trp)
n.246G>T
c.133G>T (p.Gly45Trp)
c.265G>T (p.Gly89Trp)
c.247G>T (p.Gly83Trp)
3g.46895789_46895815delCA2665482017PTH1Rc.233_259del (p.Pro78_Lys86del)
n.253_279del
c.140_166del (p.Pro47_Lys55del)
c.272_298del (p.Pro91_Lys99del)
c.254_280del (p.Pro85_Lys93del)
 gnomAD v4
3g.46895783G>ACA2359124PTH1Rc.227G>A (p.Gly76Glu)
n.247G>A
c.134G>A (p.Gly45Glu)
c.266G>A (p.Gly89Glu)
c.248G>A (p.Gly83Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.46895783G>CCA352492081PTH1Rc.227G>C (p.Gly76Ala)
n.247G>C
c.134G>C (p.Gly45Ala)
c.266G>C (p.Gly89Ala)
c.248G>C (p.Gly83Ala)
3g.46895783G=CA1362307948PTH1Rc.227G= (p.Gly76=)
n.247G=
c.134G= (p.Gly45=)
c.266G= (p.Gly89=)
c.248G= (p.Gly83=)
3g.46895783G>TCA352492082PTH1Rc.227G>T (p.Gly76Val)
n.247G>T
c.134G>T (p.Gly45Val)
c.266G>T (p.Gly89Val)
c.248G>T (p.Gly83Val)
 COSMIC
3g.46895784G>ACA433466256PTH1Rc.228G>A (p.Gly76=)
n.248G>A
c.135G>A (p.Gly45=)
c.267G>A (p.Gly89=)
c.249G>A (p.Gly83=)
 gnomAD v4
3g.46895784G>CCA433466258PTH1Rc.228G>C (p.Gly76=)
n.248G>C
c.135G>C (p.Gly45=)
c.267G>C (p.Gly89=)
c.249G>C (p.Gly83=)
 gnomAD v4
3g.46895784G>TCA433466263PTH1Rc.228G>T (p.Gly76=)
n.248G>T
c.135G>T (p.Gly45=)
c.267G>T (p.Gly89=)
c.249G>T (p.Gly83=)
3g.46895785A>CCA352492083PTH1Rc.229A>C (p.Lys77Gln)
n.249A>C
c.136A>C (p.Lys46Gln)
c.268A>C (p.Lys90Gln)
c.250A>C (p.Lys84Gln)
3g.46895785A>GCA352492084PTH1Rc.229A>G (p.Lys77Glu)
n.249A>G
c.136A>G (p.Lys46Glu)
c.268A>G (p.Lys90Glu)
c.250A>G (p.Lys84Glu)
3g.46895785A>TCA352492085PTH1Rc.229A>T (p.Lys77Ter)
n.249A>T
c.136A>T (p.Lys46Ter)
c.268A>T (p.Lys90Ter)
c.250A>T (p.Lys84Ter)
3g.46895786A>CCA352492088PTH1Rc.230A>C (p.Lys77Thr)
n.250A>C
c.137A>C (p.Lys46Thr)
c.269A>C (p.Lys90Thr)
c.251A>C (p.Lys84Thr)
3g.46895786A>GCA352492087PTH1Rc.230A>G (p.Lys77Arg)
n.250A>G
c.137A>G (p.Lys46Arg)
c.269A>G (p.Lys90Arg)
c.251A>G (p.Lys84Arg)
3g.46895786A>TCA352492086PTH1Rc.230A>T (p.Lys77Met)
n.250A>T
c.137A>T (p.Lys46Met)
c.269A>T (p.Lys90Met)
c.251A>T (p.Lys84Met)
3g.46895787G>ACA433466270PTH1Rc.231G>A (p.Lys77=)
n.251G>A
c.138G>A (p.Lys46=)
c.270G>A (p.Lys90=)
c.252G>A (p.Lys84=)
 gnomAD v4
3g.46895787G>CCA352492089PTH1Rc.231G>C (p.Lys77Asn)
n.251G>C
c.138G>C (p.Lys46Asn)
c.270G>C (p.Lys90Asn)
c.252G>C (p.Lys84Asn)
3g.46895787G>TCA352492090PTH1Rc.231G>T (p.Lys77Asn)
n.251G>T
c.138G>T (p.Lys46Asn)
c.270G>T (p.Lys90Asn)
c.252G>T (p.Lys84Asn)
3g.46895788C>ACA352492091PTH1Rc.232C>A (p.Pro78Thr)
n.252C>A
c.139C>A (p.Pro47Thr)
c.271C>A (p.Pro91Thr)
c.253C>A (p.Pro85Thr)
3g.46895788C=CA1362307952PTH1Rc.232C= (p.Pro78=)
n.252C=
c.139C= (p.Pro47=)
c.271C= (p.Pro91=)
c.253C= (p.Pro85=)
3g.46895788C>GCA352492092PTH1Rc.232C>G (p.Pro78Ala)
n.252C>G
c.139C>G (p.Pro47Ala)
c.271C>G (p.Pro91Ala)
c.253C>G (p.Pro85Ala)
3g.46895788C>TCA2359125PTH1Rc.232C>T (p.Pro78Ser)
n.252C>T
c.139C>T (p.Pro47Ser)
c.271C>T (p.Pro91Ser)
c.253C>T (p.Pro85Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46895789C>ACA352492093PTH1Rc.233C>A (p.Pro78His)
n.253C>A
c.140C>A (p.Pro47His)
c.272C>A (p.Pro91His)
c.254C>A (p.Pro85His)
3g.46895789C=CA1362307955PTH1Rc.233C= (p.Pro78=)
n.253C=
c.140C= (p.Pro47=)
c.272C= (p.Pro91=)
c.254C= (p.Pro85=)
3g.46895789C>GCA352492094PTH1Rc.233C>G (p.Pro78Arg)
n.253C>G
c.140C>G (p.Pro47Arg)
c.272C>G (p.Pro91Arg)
c.254C>G (p.Pro85Arg)
3g.46895789C>TCA352492095PTH1Rc.233C>T (p.Pro78Leu)
n.253C>T
c.140C>T (p.Pro47Leu)
c.272C>T (p.Pro91Leu)
c.254C>T (p.Pro85Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.46895790C>ACA433466279PTH1Rc.234C>A (p.Pro78=)
n.254C>A
c.141C>A (p.Pro47=)
c.273C>A (p.Pro91=)
c.255C>A (p.Pro85=)
3g.46895790C>GCA433466280PTH1Rc.234C>G (p.Pro78=)
n.254C>G
c.141C>G (p.Pro47=)
c.273C>G (p.Pro91=)
c.255C>G (p.Pro85=)
3g.46895790C>TCA433466282PTH1Rc.234C>T (p.Pro78=)
n.254C>T
c.141C>T (p.Pro47=)
c.273C>T (p.Pro91=)
c.255C>T (p.Pro85=)
3g.46895791A>CCA433466285PTH1Rc.235A>C (p.Arg79=)
n.255A>C
c.142A>C (p.Arg48=)
c.274A>C (p.Arg92=)
c.256A>C (p.Arg86=)
3g.46895791A>GCA352492096PTH1Rc.235A>G (p.Arg79Gly)
n.255A>G
c.142A>G (p.Arg48Gly)
c.274A>G (p.Arg92Gly)
c.256A>G (p.Arg86Gly)
3g.46895791A>TCA352492097PTH1Rc.235A>T (p.Arg79Trp)
n.255A>T
c.142A>T (p.Arg48Trp)
c.274A>T (p.Arg92Trp)
c.256A>T (p.Arg86Trp)
3g.46895792G>ACA352492098PTH1Rc.236G>A (p.Arg79Lys)
n.256G>A
c.143G>A (p.Arg48Lys)
c.275G>A (p.Arg92Lys)
c.257G>A (p.Arg86Lys)
3g.46895792G>CCA352492099PTH1Rc.236G>C (p.Arg79Thr)
n.256G>C
c.143G>C (p.Arg48Thr)
c.275G>C (p.Arg92Thr)
c.257G>C (p.Arg86Thr)
3g.46895792G>TCA352492100PTH1Rc.236G>T (p.Arg79Met)
n.256G>T
c.143G>T (p.Arg48Met)
c.275G>T (p.Arg92Met)
c.257G>T (p.Arg86Met)
3g.46895793G>ACA433466301PTH1Rc.237G>A (p.Arg79=)
n.257G>A
c.144G>A (p.Arg48=)
c.276G>A (p.Arg92=)
c.258G>A (p.Arg86=)
 COSMIC
3g.46895793G>CCA2359126PTH1Rc.237G>C (p.Arg79Ser)
n.257G>C
c.144G>C (p.Arg48Ser)
c.276G>C (p.Arg92Ser)
c.258G>C (p.Arg86Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46895793G=CA1362307958PTH1Rc.237G= (p.Arg79=)
n.257G=
c.144G= (p.Arg48=)
c.276G= (p.Arg92=)
c.258G= (p.Arg86=)
3g.46895793G>TCA352492101PTH1Rc.237G>T (p.Arg79Ser)
n.257G>T
c.144G>T (p.Arg48Ser)
c.276G>T (p.Arg92Ser)
c.258G>T (p.Arg86Ser)
3g.46895794A>CCA352492102PTH1Rc.238A>C (p.Lys80Gln)
n.258A>C
c.145A>C (p.Lys49Gln)
c.277A>C (p.Lys93Gln)
c.259A>C (p.Lys87Gln)
3g.46895794A>GCA352492103PTH1Rc.238A>G (p.Lys80Glu)
n.258A>G
c.145A>G (p.Lys49Glu)
c.277A>G (p.Lys93Glu)
c.259A>G (p.Lys87Glu)
3g.46895794A>TCA352492104PTH1Rc.238A>T (p.Lys80Ter)
n.258A>T
c.145A>T (p.Lys49Ter)
c.277A>T (p.Lys93Ter)
c.259A>T (p.Lys87Ter)
3g.46895795A>CCA352492105PTH1Rc.239A>C (p.Lys80Thr)
n.259A>C
c.146A>C (p.Lys49Thr)
c.278A>C (p.Lys93Thr)
c.260A>C (p.Lys87Thr)
3g.46895795A>GCA352492106PTH1Rc.239A>G (p.Lys80Arg)
n.259A>G
c.146A>G (p.Lys49Arg)
c.278A>G (p.Lys93Arg)
c.260A>G (p.Lys87Arg)
3g.46895795A>TCA352492107PTH1Rc.239A>T (p.Lys80Ile)
n.259A>T
c.146A>T (p.Lys49Ile)
c.278A>T (p.Lys93Ile)
c.260A>T (p.Lys87Ile)
3g.46895796A=CA1362307962PTH1Rc.240A= (p.Lys80=)
n.260A=
c.147A= (p.Lys49=)
c.279A= (p.Lys93=)
c.261A= (p.Lys87=)
3g.46895796A>CCA352492108PTH1Rc.240A>C (p.Lys80Asn)
n.260A>C
c.147A>C (p.Lys49Asn)
c.279A>C (p.Lys93Asn)
c.261A>C (p.Lys87Asn)
3g.46895796A>GCA433466320PTH1Rc.240A>G (p.Lys80=)
n.260A>G
c.147A>G (p.Lys49=)
c.279A>G (p.Lys93=)
c.261A>G (p.Lys87=)
 dbSNP gnomAD v2 gnomAD v4
3g.46895796A>TCA352492109PTH1Rc.240A>T (p.Lys80Asn)
n.260A>T
c.147A>T (p.Lys49Asn)
c.279A>T (p.Lys93Asn)
c.261A>T (p.Lys87Asn)
3g.46895797G>ACA352492110PTH1Rc.241G>A (p.Asp81Asn)
n.261G>A
c.148G>A (p.Asp50Asn)
c.280G>A (p.Asp94Asn)
c.262G>A (p.Asp88Asn)
3g.46895797G>CCA352492111PTH1Rc.241G>C (p.Asp81His)
n.261G>C
c.148G>C (p.Asp50His)
c.280G>C (p.Asp94His)
c.262G>C (p.Asp88His)
 gnomAD v4
3g.46895797G>TCA352492112PTH1Rc.241G>T (p.Asp81Tyr)
n.261G>T
c.148G>T (p.Asp50Tyr)
c.280G>T (p.Asp94Tyr)
c.262G>T (p.Asp88Tyr)
3g.46895798A>CCA352492114PTH1Rc.242A>C (p.Asp81Ala)
n.262A>C
c.149A>C (p.Asp50Ala)
c.281A>C (p.Asp94Ala)
c.263A>C (p.Asp88Ala)
3g.46895798A>GCA352492115PTH1Rc.242A>G (p.Asp81Gly)
n.262A>G
c.149A>G (p.Asp50Gly)
c.281A>G (p.Asp94Gly)
c.263A>G (p.Asp88Gly)
3g.46895798A>TCA352492113PTH1Rc.242A>T (p.Asp81Val)
n.262A>T
c.149A>T (p.Asp50Val)
c.281A>T (p.Asp94Val)
c.263A>T (p.Asp88Val)
3g.46895799T>ACA352492117PTH1Rc.243T>A (p.Asp81Glu)
n.263T>A
c.150T>A (p.Asp50Glu)
c.282T>A (p.Asp94Glu)
c.264T>A (p.Asp88Glu)
3g.46895799T>CCA433466358PTH1Rc.243T>C (p.Asp81=)
n.263T>C
c.150T>C (p.Asp50=)
c.282T>C (p.Asp94=)
c.264T>C (p.Asp88=)
3g.46895799T>GCA352492116PTH1Rc.243T>G (p.Asp81Glu)
n.263T>G
c.150T>G (p.Asp50Glu)
c.282T>G (p.Asp94Glu)
c.264T>G (p.Asp88Glu)
3g.46895800A>CCA352492118PTH1Rc.244A>C (p.Lys82Gln)
n.264A>C
c.151A>C (p.Lys51Gln)
c.283A>C (p.Lys95Gln)
c.265A>C (p.Lys89Gln)
3g.46895800A>GCA352492119PTH1Rc.244A>G (p.Lys82Glu)
n.264A>G
c.151A>G (p.Lys51Glu)
c.283A>G (p.Lys95Glu)
c.265A>G (p.Lys89Glu)
 gnomAD v4
3g.46895800A>TCA352492120PTH1Rc.244A>T (p.Lys82Ter)
n.264A>T
c.151A>T (p.Lys51Ter)
c.283A>T (p.Lys95Ter)
c.265A>T (p.Lys89Ter)
3g.46895801A>CCA352492121PTH1Rc.245A>C (p.Lys82Thr)
n.265A>C
c.152A>C (p.Lys51Thr)
c.284A>C (p.Lys95Thr)
c.266A>C (p.Lys89Thr)
3g.46895801A>GCA352492122PTH1Rc.245A>G (p.Lys82Arg)
n.265A>G
c.152A>G (p.Lys51Arg)
c.284A>G (p.Lys95Arg)
c.266A>G (p.Lys89Arg)
3g.46895801A>TCA352492123PTH1Rc.245A>T (p.Lys82Met)
n.265A>T
c.152A>T (p.Lys51Met)
c.284A>T (p.Lys95Met)
c.266A>T (p.Lys89Met)
3g.46895802G>ACA433466377PTH1Rc.246G>A (p.Lys82=)
n.266G>A
c.153G>A (p.Lys51=)
c.285G>A (p.Lys95=)
c.267G>A (p.Lys89=)
 gnomAD v4
3g.46895802G>CCA352492124PTH1Rc.246G>C (p.Lys82Asn)
n.266G>C
c.153G>C (p.Lys51Asn)
c.285G>C (p.Lys95Asn)
c.267G>C (p.Lys89Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.46895802G=CA1362307966PTH1Rc.246G= (p.Lys82=)
n.266G=
c.153G= (p.Lys51=)
c.285G= (p.Lys95=)
c.267G= (p.Lys89=)
3g.46895802G>TCA352492125PTH1Rc.246G>T (p.Lys82Asn)
n.266G>T
c.153G>T (p.Lys51Asn)
c.285G>T (p.Lys95Asn)
c.267G>T (p.Lys89Asn)
 COSMIC
3g.46895802_46895803insTGTTGGCA2756109149PTH1Rc.246_247insTGTTGG (p.Lys82_Ala83insCysTrp)
n.266_267insTGTTGG
c.153_154insTGTTGG (p.Lys51_Ala52insCysTrp)
c.285_286insTGTTGG (p.Lys95_Ala96insCysTrp)
c.267_268insTGTTGG (p.Lys89_Ala90insCysTrp)
3g.46895803G>ACA352492126PTH1Rc.247G>A (p.Ala83Thr)
n.267G>A
c.154G>A (p.Ala52Thr)
c.286G>A (p.Ala96Thr)
c.268G>A (p.Ala90Thr)
 gnomAD v4
3g.46895803G>CCA352492127PTH1Rc.247G>C (p.Ala83Pro)
n.267G>C
c.154G>C (p.Ala52Pro)
c.286G>C (p.Ala96Pro)
c.268G>C (p.Ala90Pro)
 dbSNP gnomAD v4
3g.46895803G=CA1362307968PTH1Rc.247G= (p.Ala83=)
n.267G=
c.154G= (p.Ala52=)
c.286G= (p.Ala96=)
c.268G= (p.Ala90=)
3g.46895803G>TCA73767594PTH1Rc.247G>T (p.Ala83Ser)
n.267G>T
c.154G>T (p.Ala52Ser)
c.286G>T (p.Ala96Ser)
c.268G>T (p.Ala90Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.46895804C>ACA352492129PTH1Rc.248C>A (p.Ala83Glu)
n.268C>A
c.155C>A (p.Ala52Glu)
c.287C>A (p.Ala96Glu)
c.269C>A (p.Ala90Glu)
3g.46895804C=CA1362307971PTH1Rc.248C= (p.Ala83=)
n.268C=
c.155C= (p.Ala52=)
c.287C= (p.Ala96=)
c.269C= (p.Ala90=)
3g.46895804C>GCA352492128PTH1Rc.248C>G (p.Ala83Gly)
n.268C>G
c.155C>G (p.Ala52Gly)
c.287C>G (p.Ala96Gly)
c.269C>G (p.Ala90Gly)
3g.46895804C>TCA2359127PTH1Rc.248C>T (p.Ala83Val)
n.268C>T
c.155C>T (p.Ala52Val)
c.287C>T (p.Ala96Val)
c.269C>T (p.Ala90Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895805A>CCA433466394PTH1Rc.249A>C (p.Ala83=)
n.269A>C
c.156A>C (p.Ala52=)
c.288A>C (p.Ala96=)
c.270A>C (p.Ala90=)
3g.46895805A>GCA433466397PTH1Rc.249A>G (p.Ala83=)
n.269A>G
c.156A>G (p.Ala52=)
c.288A>G (p.Ala96=)
c.270A>G (p.Ala90=)
3g.46895805A>TCA433466400PTH1Rc.249A>T (p.Ala83=)
n.269A>T
c.156A>T (p.Ala52=)
c.288A>T (p.Ala96=)
c.270A>T (p.Ala90=)
3g.46895805_46895806insGGTGGCAGTATTGCTGATGGTGCTAATGTTGCCTTGGTGATGCTGGAGGTGGTGGCAGTGGTGCTGGTGCTGGTGATGTACCAGCA2756109150PTH1Rc.249_250insGGTGGCAGTATTGCTGATGGTGCTAATGTTGCCTTGGTGATGCTGGAGGTGGTGGCAGTGGTGCTGGTGCTGGTGATGTACCAG (p.Ala83_Ser84insGlyGlySerIleAlaAspGlyAlaAsnValAlaLeuValMetLeuGluValValAlaValValLeuValLeuValMetTyrGln)
n.269_270insGGTGGCAGTATTGCTGATGGTGCTAATGTTGCCTTGGTGATGCTGGAGGTGGTGGCAGTGGTGCTGGTGCTGGTGATGTACCAG
c.156_157insGGTGGCAGTATTGCTGATGGTGCTAATGTTGCCTTGGTGATGCTGGAGGTGGTGGCAGTGGTGCTGGTGCTGGTGATGTACCAG (p.Ala52_Ser53insGlyGlySerIleAlaAspGlyAlaAsnValAlaLeuValMetLeuGluValValAlaValValLeuValLeuValMetTyrGln)
c.288_289insGGTGGCAGTATTGCTGATGGTGCTAATGTTGCCTTGGTGATGCTGGAGGTGGTGGCAGTGGTGCTGGTGCTGGTGATGTACCAG (p.Ala96_Ser97insGlyGlySerIleAlaAspGlyAlaAsnValAlaLeuValMetLeuGluValValAlaValValLeuValLeuValMetTyrGln)
c.270_271insGGTGGCAGTATTGCTGATGGTGCTAATGTTGCCTTGGTGATGCTGGAGGTGGTGGCAGTGGTGCTGGTGCTGGTGATGTACCAG (p.Ala90_Ser91insGlyGlySerIleAlaAspGlyAlaAsnValAlaLeuValMetLeuGluValValAlaValValLeuValLeuValMetTyrGln)
3g.46895806T>ACA352492130PTH1Rc.250T>A (p.Ser84Thr)
n.270T>A
c.157T>A (p.Ser53Thr)
c.289T>A (p.Ser97Thr)
c.271T>A (p.Ser91Thr)
3g.46895806T>CCA352492131PTH1Rc.250T>C (p.Ser84Pro)
n.270T>C
c.157T>C (p.Ser53Pro)
c.289T>C (p.Ser97Pro)
c.271T>C (p.Ser91Pro)
3g.46895806T>GCA352492132PTH1Rc.250T>G (p.Ser84Ala)
n.270T>G
c.157T>G (p.Ser53Ala)
c.289T>G (p.Ser97Ala)
c.271T>G (p.Ser91Ala)
3g.46895807delCA2756109152PTH1Rc.251del (p.Ser84LeufsTer?)
n.271del
c.158del (p.Ser53LeufsTer?)
c.290del (p.Ser97LeufsTer?)
c.272del (p.Ser91LeufsTer?)
3g.46895807C>ACA352492133PTH1Rc.251C>A (p.Ser84Tyr)
n.271C>A
c.158C>A (p.Ser53Tyr)
c.290C>A (p.Ser97Tyr)
c.272C>A (p.Ser91Tyr)
3g.46895807C=CA1362307975PTH1Rc.251C= (p.Ser84=)
n.271C=
c.158C= (p.Ser53=)
c.290C= (p.Ser97=)
c.272C= (p.Ser91=)
3g.46895807C>GCA2359128PTH1Rc.251C>G (p.Ser84Cys)
n.271C>G
c.158C>G (p.Ser53Cys)
c.290C>G (p.Ser97Cys)
c.272C>G (p.Ser91Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895807C>TCA352492134PTH1Rc.251C>T (p.Ser84Phe)
n.271C>T
c.158C>T (p.Ser53Phe)
c.290C>T (p.Ser97Phe)
c.272C>T (p.Ser91Phe)
3g.46895808T>ACA433466411PTH1Rc.252T>A (p.Ser84=)
n.272T>A
c.159T>A (p.Ser53=)
c.291T>A (p.Ser97=)
c.273T>A (p.Ser91=)
3g.46895808T>CCA433466413PTH1Rc.252T>C (p.Ser84=)
n.272T>C
c.159T>C (p.Ser53=)
c.291T>C (p.Ser97=)
c.273T>C (p.Ser91=)
3g.46895808T>GCA433466415PTH1Rc.252T>G (p.Ser84=)
n.272T>G
c.159T>G (p.Ser53=)
c.291T>G (p.Ser97=)
c.273T>G (p.Ser91=)
3g.46895809G>ACA352492135PTH1Rc.253G>A (p.Gly85Arg)
n.273G>A
c.160G>A (p.Gly54Arg)
c.292G>A (p.Gly98Arg)
c.274G>A (p.Gly92Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46895809G>CCA352492136PTH1Rc.253G>C (p.Gly85Arg)
n.273G>C
c.160G>C (p.Gly54Arg)
c.292G>C (p.Gly98Arg)
c.274G>C (p.Gly92Arg)
3g.46895809G=CA1362307978PTH1Rc.253G= (p.Gly85=)
n.273G=
c.160G= (p.Gly54=)
c.292G= (p.Gly98=)
c.274G= (p.Gly92=)
3g.46895809G>TCA352492137PTH1Rc.253G>T (p.Gly85Trp)
n.273G>T
c.160G>T (p.Gly54Trp)
c.292G>T (p.Gly98Trp)
c.274G>T (p.Gly92Trp)
3g.46895810G>ACA352492138PTH1Rc.254G>A (p.Gly85Glu)
n.274G>A
c.161G>A (p.Gly54Glu)
c.293G>A (p.Gly98Glu)
c.275G>A (p.Gly92Glu)
3g.46895810G>CCA352492139PTH1Rc.254G>C (p.Gly85Ala)
n.274G>C
c.161G>C (p.Gly54Ala)
c.293G>C (p.Gly98Ala)
c.275G>C (p.Gly92Ala)
3g.46895810G>TCA352492140PTH1Rc.254G>T (p.Gly85Val)
n.274G>T
c.161G>T (p.Gly54Val)
c.293G>T (p.Gly98Val)
c.275G>T (p.Gly92Val)
3g.46895811G>ACA433466429PTH1Rc.255G>A (p.Gly85=)
n.275G>A
c.162G>A (p.Gly54=)
c.294G>A (p.Gly98=)
c.276G>A (p.Gly92=)
 dbSNP gnomAD v2 gnomAD v4
3g.46895811G>CCA433466430PTH1Rc.255G>C (p.Gly85=)
n.275G>C
c.162G>C (p.Gly54=)
c.294G>C (p.Gly98=)
c.276G>C (p.Gly92=)
3g.46895811G=CA1362307982PTH1Rc.255G= (p.Gly85=)
n.275G=
c.162G= (p.Gly54=)
c.294G= (p.Gly98=)
c.276G= (p.Gly92=)
3g.46895811G>TCA433466431PTH1Rc.255G>T (p.Gly85=)
n.275G>T
c.162G>T (p.Gly54=)
c.294G>T (p.Gly98=)
c.276G>T (p.Gly92=)
3g.46895812A>CCA352492143PTH1Rc.256A>C (p.Lys86Gln)
n.276A>C
c.163A>C (p.Lys55Gln)
c.295A>C (p.Lys99Gln)
c.277A>C (p.Lys93Gln)
3g.46895812A>GCA352492142PTH1Rc.256A>G (p.Lys86Glu)
n.276A>G
c.163A>G (p.Lys55Glu)
c.295A>G (p.Lys99Glu)
c.277A>G (p.Lys93Glu)
 gnomAD v4
3g.46895812A>TCA352492141PTH1Rc.256A>T (p.Lys86Ter)
n.276A>T
c.163A>T (p.Lys55Ter)
c.295A>T (p.Lys99Ter)
c.277A>T (p.Lys93Ter)
3g.46895813A>CCA352492144PTH1Rc.257A>C (p.Lys86Thr)
n.277A>C
c.164A>C (p.Lys55Thr)
c.296A>C (p.Lys99Thr)
c.278A>C (p.Lys93Thr)
3g.46895813A>GCA352492145PTH1Rc.257A>G (p.Lys86Arg)
n.277A>G
c.164A>G (p.Lys55Arg)
c.296A>G (p.Lys99Arg)
c.278A>G (p.Lys93Arg)
3g.46895813A>TCA352492146PTH1Rc.257A>T (p.Lys86Met)
n.277A>T
c.164A>T (p.Lys55Met)
c.296A>T (p.Lys99Met)
c.278A>T (p.Lys93Met)
3g.46895814G>ACA433466479PTH1Rc.258G>A (p.Lys86=)
n.278G>A
c.165G>A (p.Lys55=)
c.297G>A (p.Lys99=)
c.279G>A (p.Lys93=)
3g.46895814G>CCA2359129PTH1Rc.258G>C (p.Lys86Asn)
n.278G>C
c.165G>C (p.Lys55Asn)
c.297G>C (p.Lys99Asn)
c.279G>C (p.Lys93Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46895814G=CA1362307985PTH1Rc.258G= (p.Lys86=)
n.278G=
c.165G= (p.Lys55=)
c.297G= (p.Lys99=)
c.279G= (p.Lys93=)
3g.46895814G>TCA352492147PTH1Rc.258G>T (p.Lys86Asn)
n.278G>T
c.165G>T (p.Lys55Asn)
c.297G>T (p.Lys99Asn)
c.279G>T (p.Lys93Asn)
3g.46895815C>ACA352492150PTH1Rc.259C>A (p.Leu87Ile)
n.279C>A
c.166C>A (p.Leu56Ile)
c.298C>A (p.Leu100Ile)
c.280C>A (p.Leu94Ile)
3g.46895815C=CA1362307990PTH1Rc.259C= (p.Leu87=)
n.279C=
c.166C= (p.Leu56=)
c.298C= (p.Leu100=)
c.280C= (p.Leu94=)
3g.46895815C>GCA352492149PTH1Rc.259C>G (p.Leu87Val)
n.279C>G
c.166C>G (p.Leu56Val)
c.298C>G (p.Leu100Val)
c.280C>G (p.Leu94Val)
3g.46895815C>TCA352492148PTH1Rc.259C>T (p.Leu87Phe)
n.279C>T
c.166C>T (p.Leu56Phe)
c.298C>T (p.Leu100Phe)
c.280C>T (p.Leu94Phe)
 dbSNP gnomAD v4
3g.46895816T>ACA352492151PTH1Rc.260T>A (p.Leu87His)
n.280T>A
c.167T>A (p.Leu56His)
c.299T>A (p.Leu100His)
c.281T>A (p.Leu94His)
3g.46895816T>CCA352492152PTH1Rc.260T>C (p.Leu87Pro)
n.280T>C
c.167T>C (p.Leu56Pro)
c.299T>C (p.Leu100Pro)
c.281T>C (p.Leu94Pro)
 dbSNP
3g.46895816T>GCA352492153PTH1Rc.260T>G (p.Leu87Arg)
n.280T>G
c.167T>G (p.Leu56Arg)
c.299T>G (p.Leu100Arg)
c.281T>G (p.Leu94Arg)
3g.46895816T=CA1362307993PTH1Rc.260T= (p.Leu87=)
n.280T=
c.167T= (p.Leu56=)
c.299T= (p.Leu100=)
c.281T= (p.Leu94=)
3g.46895817C>ACA433466504PTH1Rc.261C>A (p.Leu87=)
n.281C>A
c.168C>A (p.Leu56=)
c.300C>A (p.Leu100=)
c.282C>A (p.Leu94=)
3g.46895817C>GCA433466513PTH1Rc.261C>G (p.Leu87=)
n.281C>G
c.168C>G (p.Leu56=)
c.300C>G (p.Leu100=)
c.282C>G (p.Leu94=)
3g.46895817C>TCA433466515PTH1Rc.261C>T (p.Leu87=)
n.281C>T
c.168C>T (p.Leu56=)
c.300C>T (p.Leu100=)
c.282C>T (p.Leu94=)
 gnomAD v4
3g.46895818T>ACA352492154PTH1Rc.262T>A (p.Tyr88Asn)
n.282T>A
c.169T>A (p.Tyr57Asn)
c.301T>A (p.Tyr101Asn)
c.283T>A (p.Tyr95Asn)
3g.46895818T>CCA352492155PTH1Rc.262T>C (p.Tyr88His)
n.282T>C
c.169T>C (p.Tyr57His)
c.301T>C (p.Tyr101His)
c.283T>C (p.Tyr95His)
 gnomAD v4
3g.46895818T>GCA352492156PTH1Rc.262T>G (p.Tyr88Asp)
n.282T>G
c.169T>G (p.Tyr57Asp)
c.301T>G (p.Tyr101Asp)
c.283T>G (p.Tyr95Asp)
3g.46895819A=CA1362307996PTH1Rc.263A= (p.Tyr88=)
n.283A=
c.170A= (p.Tyr57=)
c.302A= (p.Tyr101=)
c.284A= (p.Tyr95=)
3g.46895819A>CCA352492157PTH1Rc.263A>C (p.Tyr88Ser)
n.283A>C
c.170A>C (p.Tyr57Ser)
c.302A>C (p.Tyr101Ser)
c.284A>C (p.Tyr95Ser)
3g.46895819A>GCA73767612PTH1Rc.263A>G (p.Tyr88Cys)
n.283A>G
c.170A>G (p.Tyr57Cys)
c.302A>G (p.Tyr101Cys)
c.284A>G (p.Tyr95Cys)
 dbSNP gnomAD v4
3g.46895819A>TCA352492158PTH1Rc.263A>T (p.Tyr88Phe)
n.283A>T
c.170A>T (p.Tyr57Phe)
c.302A>T (p.Tyr101Phe)
c.284A>T (p.Tyr95Phe)
3g.46895820C>ACA352492159PTH1Rc.264C>A (p.Tyr88Ter)
n.284C>A
c.171C>A (p.Tyr57Ter)
c.303C>A (p.Tyr101Ter)
c.285C>A (p.Tyr95Ter)
3g.46895820C>GCA352492160PTH1Rc.264C>G (p.Tyr88Ter)
n.284C>G
c.171C>G (p.Tyr57Ter)
c.303C>G (p.Tyr101Ter)
c.285C>G (p.Tyr95Ter)
3g.46895820C>TCA433466571PTH1Rc.264C>T (p.Tyr88=)
n.284C>T
c.171C>T (p.Tyr57=)
c.303C>T (p.Tyr101=)
c.285C>T (p.Tyr95=)
3g.46895821C>ACA352492161PTH1Rc.265C>A (p.Pro89Thr)
n.285C>A
c.172C>A (p.Pro58Thr)
c.304C>A (p.Pro102Thr)
c.286C>A (p.Pro96Thr)
3g.46895821C=CA1362307999PTH1Rc.265C= (p.Pro89=)
n.285C=
c.172C= (p.Pro58=)
c.304C= (p.Pro102=)
c.286C= (p.Pro96=)
3g.46895821C>GCA352492162PTH1Rc.265C>G (p.Pro89Ala)
n.285C>G
c.172C>G (p.Pro58Ala)
c.304C>G (p.Pro102Ala)
c.286C>G (p.Pro96Ala)
 gnomAD v4
3g.46895821C>TCA2359130PTH1Rc.265C>T (p.Pro89Ser)
n.285C>T
c.172C>T (p.Pro58Ser)
c.304C>T (p.Pro102Ser)
c.286C>T (p.Pro96Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.46895822C>ACA352492163PTH1Rc.266C>A (p.Pro89His)
n.286C>A
c.173C>A (p.Pro58His)
c.305C>A (p.Pro102His)
c.287C>A (p.Pro96His)
 gnomAD v4
3g.46895822C=CA1362308001PTH1Rc.266C= (p.Pro89=)
n.286C=
c.173C= (p.Pro58=)
c.305C= (p.Pro102=)
c.287C= (p.Pro96=)
3g.46895822C>GCA2359131PTH1Rc.266C>G (p.Pro89Arg)
n.286C>G
c.173C>G (p.Pro58Arg)
c.305C>G (p.Pro102Arg)
c.287C>G (p.Pro96Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895822C>TCA352492164PTH1Rc.266C>T (p.Pro89Leu)
n.286C>T
c.173C>T (p.Pro58Leu)
c.305C>T (p.Pro102Leu)
c.287C>T (p.Pro96Leu)
3g.46895823T>ACA433466592PTH1Rc.267T>A (p.Pro89=)
n.287T>A
c.174T>A (p.Pro58=)
c.306T>A (p.Pro102=)
c.288T>A (p.Pro96=)
3g.46895823T>CCA433466594PTH1Rc.267T>C (p.Pro89=)
n.287T>C
c.174T>C (p.Pro58=)
c.306T>C (p.Pro102=)
c.288T>C (p.Pro96=)
3g.46895823T>GCA2359132PTH1Rc.267T>G (p.Pro89=)
n.287T>G
c.174T>G (p.Pro58=)
c.306T>G (p.Pro102=)
c.288T>G (p.Pro96=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46895823T=CA1362308004PTH1Rc.267T= (p.Pro89=)
n.287T=
c.174T= (p.Pro58=)
c.306T= (p.Pro102=)
c.288T= (p.Pro96=)
3g.46895824G>ACA352492165PTH1Rc.268G>A (p.Glu90Lys)
n.288G>A
c.175G>A (p.Glu59Lys)
c.307G>A (p.Glu103Lys)
c.289G>A (p.Glu97Lys)
3g.46895824G>CCA352492166PTH1Rc.268G>C (p.Glu90Gln)
n.288G>C
c.175G>C (p.Glu59Gln)
c.307G>C (p.Glu103Gln)
c.289G>C (p.Glu97Gln)
3g.46895824G>TCA352492167PTH1Rc.268G>T (p.Glu90Ter)
n.288G>T
c.175G>T (p.Glu59Ter)
c.307G>T (p.Glu103Ter)
c.289G>T (p.Glu97Ter)
3g.46895825A>CCA352492169PTH1Rc.269A>C (p.Glu90Ala)
n.289A>C
c.176A>C (p.Glu59Ala)
c.308A>C (p.Glu103Ala)
c.290A>C (p.Glu97Ala)
3g.46895825A>GCA352492170PTH1Rc.269A>G (p.Glu90Gly)
n.289A>G
c.176A>G (p.Glu59Gly)
c.308A>G (p.Glu103Gly)
c.290A>G (p.Glu97Gly)
3g.46895825A>TCA352492168PTH1Rc.269A>T (p.Glu90Val)
n.289A>T
c.176A>T (p.Glu59Val)
c.308A>T (p.Glu103Val)
c.290A>T (p.Glu97Val)
3g.46895826G>ACA433466609PTH1Rc.270G>A (p.Glu90=)
n.290G>A
c.177G>A (p.Glu59=)
c.309G>A (p.Glu103=)
c.291G>A (p.Glu97=)
3g.46895826G>CCA352492172PTH1Rc.270G>C (p.Glu90Asp)
n.290G>C
c.177G>C (p.Glu59Asp)
c.309G>C (p.Glu103Asp)
c.291G>C (p.Glu97Asp)
3g.46895826G>TCA352492171PTH1Rc.270G>T (p.Glu90Asp)
n.290G>T
c.177G>T (p.Glu59Asp)
c.309G>T (p.Glu103Asp)
c.291G>T (p.Glu97Asp)
3g.46895827T>ACA352492175PTH1Rc.271T>A (p.Ser91Thr)
n.291T>A
c.178T>A (p.Ser60Thr)
c.310T>A (p.Ser104Thr)
c.292T>A (p.Ser98Thr)
3g.46895827T>CCA352492173PTH1Rc.271T>C (p.Ser91Pro)
n.291T>C
c.178T>C (p.Ser60Pro)
c.310T>C (p.Ser104Pro)
c.292T>C (p.Ser98Pro)
 gnomAD v4
3g.46895827T>GCA352492174PTH1Rc.271T>G (p.Ser91Ala)
n.291T>G
c.178T>G (p.Ser60Ala)
c.310T>G (p.Ser104Ala)
c.292T>G (p.Ser98Ala)
3g.46895828C>ACA352492176PTH1Rc.272C>A (p.Ser91Tyr)
n.292C>A
c.179C>A (p.Ser60Tyr)
c.311C>A (p.Ser104Tyr)
c.293C>A (p.Ser98Tyr)
3g.46895828C>GCA352492177PTH1Rc.272C>G (p.Ser91Cys)
n.292C>G
c.179C>G (p.Ser60Cys)
c.311C>G (p.Ser104Cys)
c.293C>G (p.Ser98Cys)
3g.46895828C>TCA352492178PTH1Rc.272C>T (p.Ser91Phe)
n.292C>T
c.179C>T (p.Ser60Phe)
c.311C>T (p.Ser104Phe)
c.293C>T (p.Ser98Phe)
3g.46895829T>ACA433466635PTH1Rc.273T>A (p.Ser91=)
n.293T>A
c.180T>A (p.Ser60=)
c.312T>A (p.Ser104=)
c.294T>A (p.Ser98=)
3g.46895829T>CCA433466640PTH1Rc.273T>C (p.Ser91=)
n.293T>C
c.180T>C (p.Ser60=)
c.312T>C (p.Ser104=)
c.294T>C (p.Ser98=)
3g.46895829T>GCA433466649PTH1Rc.273T>G (p.Ser91=)
n.293T>G
c.180T>G (p.Ser60=)
c.312T>G (p.Ser104=)
c.294T>G (p.Ser98=)
3g.46895830G>ACA2359133PTH1Rc.274G>A (p.Glu92Lys)
n.294G>A
c.181G>A (p.Glu61Lys)
c.313G>A (p.Glu105Lys)
c.295G>A (p.Glu99Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895830G>CCA352492179PTH1Rc.274G>C (p.Glu92Gln)
n.294G>C
c.181G>C (p.Glu61Gln)
c.313G>C (p.Glu105Gln)
c.295G>C (p.Glu99Gln)
3g.46895830G=CA1362308006PTH1Rc.274G= (p.Glu92=)
n.294G=
c.181G= (p.Glu61=)
c.313G= (p.Glu105=)
c.295G= (p.Glu99=)
3g.46895830G>TCA352492180PTH1Rc.274G>T (p.Glu92Ter)
n.294G>T
c.181G>T (p.Glu61Ter)
c.313G>T (p.Glu105Ter)
c.295G>T (p.Glu99Ter)
3g.46895831A>CCA352492181PTH1Rc.275A>C (p.Glu92Ala)
n.295A>C
c.182A>C (p.Glu61Ala)
c.314A>C (p.Glu105Ala)
c.296A>C (p.Glu99Ala)
3g.46895831A>GCA352492182PTH1Rc.275A>G (p.Glu92Gly)
n.295A>G
c.182A>G (p.Glu61Gly)
c.314A>G (p.Glu105Gly)
c.296A>G (p.Glu99Gly)
3g.46895831A>TCA352492183PTH1Rc.275A>T (p.Glu92Val)
n.295A>T
c.182A>T (p.Glu61Val)
c.314A>T (p.Glu105Val)
c.296A>T (p.Glu99Val)
3g.46895832G>ACA433466700PTH1Rc.276G>A (p.Glu92=)
n.296G>A
c.183G>A (p.Glu61=)
c.315G>A (p.Glu105=)
c.297G>A (p.Glu99=)
3g.46895832G>CCA2359134PTH1Rc.276G>C (p.Glu92Asp)
n.296G>C
c.183G>C (p.Glu61Asp)
c.315G>C (p.Glu105Asp)
c.297G>C (p.Glu99Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895832G=CA1362308011PTH1Rc.276G= (p.Glu92=)
n.296G=
c.183G= (p.Glu61=)
c.315G= (p.Glu105=)
c.297G= (p.Glu99=)
3g.46895832G>TCA352492184PTH1Rc.276G>T (p.Glu92Asp)
n.296G>T
c.183G>T (p.Glu61Asp)
c.315G>T (p.Glu105Asp)
c.297G>T (p.Glu99Asp)
3g.46895833G>ACA352492185PTH1Rc.277G>A (p.Glu93Lys)
n.297G>A
c.184G>A (p.Glu62Lys)
c.316G>A (p.Glu106Lys)
c.298G>A (p.Glu100Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.46895833G>CCA352492187PTH1Rc.277G>C (p.Glu93Gln)
n.297G>C
c.184G>C (p.Glu62Gln)
c.316G>C (p.Glu106Gln)
c.298G>C (p.Glu100Gln)
3g.46895833G=CA1362308017PTH1Rc.277G= (p.Glu93=)
n.297G=
c.184G= (p.Glu62=)
c.316G= (p.Glu106=)
c.298G= (p.Glu100=)
3g.46895833G>TCA352492186PTH1Rc.277G>T (p.Glu93Ter)
n.297G>T
c.184G>T (p.Glu62Ter)
c.316G>T (p.Glu106Ter)
c.298G>T (p.Glu100Ter)
3g.46895834A>CCA352492188PTH1Rc.278A>C (p.Glu93Ala)
n.298A>C
c.185A>C (p.Glu62Ala)
c.317A>C (p.Glu106Ala)
c.299A>C (p.Glu100Ala)
3g.46895834A>GCA352492189PTH1Rc.278A>G (p.Glu93Gly)
n.298A>G
c.185A>G (p.Glu62Gly)
c.317A>G (p.Glu106Gly)
c.299A>G (p.Glu100Gly)
3g.46895834A>TCA352492190PTH1Rc.278A>T (p.Glu93Val)
n.298A>T
c.185A>T (p.Glu62Val)
c.317A>T (p.Glu106Val)
c.299A>T (p.Glu100Val)
3g.46895835G>ACA73767634PTH1Rc.279G>A (p.Glu93=)
n.299G>A
c.186G>A (p.Glu62=)
c.318G>A (p.Glu106=)
c.300G>A (p.Glu100=)
 ClinVar dbSNP gnomAD v4
3g.46895835G>CCA352492191PTH1Rc.279G>C (p.Glu93Asp)
n.299G>C
c.186G>C (p.Glu62Asp)
c.318G>C (p.Glu106Asp)
c.300G>C (p.Glu100Asp)
3g.46895835G=CA1362308019PTH1Rc.279G= (p.Glu93=)
n.299G=
c.186G= (p.Glu62=)
c.318G= (p.Glu106=)
c.300G= (p.Glu100=)
3g.46895835G>TCA352492192PTH1Rc.279G>T (p.Glu93Asp)
n.299G>T
c.186G>T (p.Glu62Asp)
c.318G>T (p.Glu106Asp)
c.300G>T (p.Glu100Asp)
3g.46895836delCA2665482018PTH1Rc.280del (p.Asp94ThrfsTer?)
n.300del
c.187del (p.Asp63ThrfsTer?)
c.319del (p.Asp107ThrfsTer?)
c.301del (p.Asp101ThrfsTer?)
 gnomAD v4
3g.46895836G>ACA352492193PTH1Rc.280G>A (p.Asp94Asn)
n.300G>A
c.187G>A (p.Asp63Asn)
c.319G>A (p.Asp107Asn)
c.301G>A (p.Asp101Asn)
3g.46895836G>CCA352492194PTH1Rc.280G>C (p.Asp94His)
n.300G>C
c.187G>C (p.Asp63His)
c.319G>C (p.Asp107His)
c.301G>C (p.Asp101His)
3g.46895836G>TCA352492195PTH1Rc.280G>T (p.Asp94Tyr)
n.300G>T
c.187G>T (p.Asp63Tyr)
c.319G>T (p.Asp107Tyr)
c.301G>T (p.Asp101Tyr)
3g.46895837A>CCA352492196PTH1Rc.281A>C (p.Asp94Ala)
n.301A>C
c.188A>C (p.Asp63Ala)
c.320A>C (p.Asp107Ala)
c.302A>C (p.Asp101Ala)
3g.46895837A>GCA352492197PTH1Rc.281A>G (p.Asp94Gly)
n.301A>G
c.188A>G (p.Asp63Gly)
c.320A>G (p.Asp107Gly)
c.302A>G (p.Asp101Gly)
 COSMIC
3g.46895837A>TCA352492198PTH1Rc.281A>T (p.Asp94Val)
n.301A>T
c.188A>T (p.Asp63Val)
c.320A>T (p.Asp107Val)
c.302A>T (p.Asp101Val)
3g.46895838C>ACA352492199PTH1Rc.282C>A (p.Asp94Glu)
n.302C>A
c.189C>A (p.Asp63Glu)
c.321C>A (p.Asp107Glu)
c.303C>A (p.Asp101Glu)
3g.46895838C>GCA352492200PTH1Rc.282C>G (p.Asp94Glu)
n.302C>G
c.189C>G (p.Asp63Glu)
c.321C>G (p.Asp107Glu)
c.303C>G (p.Asp101Glu)
3g.46895838C>TCA433466797PTH1Rc.282C>T (p.Asp94=)
n.302C>T
c.189C>T (p.Asp63=)
c.321C>T (p.Asp107=)
c.303C>T (p.Asp101=)
3g.46895839A=CA1362308021PTH1Rc.283A= (p.Lys95=)
n.303A=
c.190A= (p.Lys64=)
c.322A= (p.Lys108=)
c.304A= (p.Lys102=)
3g.46895839A>CCA352492201PTH1Rc.283A>C (p.Lys95Gln)
n.303A>C
c.190A>C (p.Lys64Gln)
c.322A>C (p.Lys108Gln)
c.304A>C (p.Lys102Gln)
3g.46895839A>GCA352492202PTH1Rc.283A>G (p.Lys95Glu)
n.303A>G
c.190A>G (p.Lys64Glu)
c.322A>G (p.Lys108Glu)
c.304A>G (p.Lys102Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.46895839A>TCA352492203PTH1Rc.283A>T (p.Lys95Ter)
n.303A>T
c.190A>T (p.Lys64Ter)
c.322A>T (p.Lys108Ter)
c.304A>T (p.Lys102Ter)
3g.46895839_46895841delCA2665482019PTH1Rc.283_285del (p.Lys95del)
n.303_305del
c.190_192del (p.Lys64del)
c.322_324del (p.Lys108del)
c.304_306del (p.Lys102del)
 gnomAD v4
3g.46895840A>CCA352492204PTH1Rc.284A>C (p.Lys95Thr)
n.304A>C
c.191A>C (p.Lys64Thr)
c.323A>C (p.Lys108Thr)
c.305A>C (p.Lys102Thr)
3g.46895840A>GCA352492205PTH1Rc.284A>G (p.Lys95Arg)
n.304A>G
c.191A>G (p.Lys64Arg)
c.323A>G (p.Lys108Arg)
c.305A>G (p.Lys102Arg)
3g.46895840A>TCA352492206PTH1Rc.284A>T (p.Lys95Met)
n.304A>T
c.191A>T (p.Lys64Met)
c.323A>T (p.Lys108Met)
c.305A>T (p.Lys102Met)
 gnomAD v4
3g.46895841G>ACA433466813PTH1Rc.285G>A (p.Lys95=)
n.305G>A
c.192G>A (p.Lys64=)
c.324G>A (p.Lys108=)
c.306G>A (p.Lys102=)
3g.46895841G>CCA352492207PTH1Rc.285G>C (p.Lys95Asn)
n.305G>C
c.192G>C (p.Lys64Asn)
c.324G>C (p.Lys108Asn)
c.306G>C (p.Lys102Asn)
3g.46895841G>TCA352492208PTH1Rc.285G>T (p.Lys95Asn)
n.305G>T
c.192G>T (p.Lys64Asn)
c.324G>T (p.Lys108Asn)
c.306G>T (p.Lys102Asn)
3g.46895842G>ACA352492209PTH1Rc.286G>A (p.Glu96Lys)
n.306G>A
c.193G>A (p.Glu65Lys)
c.325G>A (p.Glu109Lys)
c.307G>A (p.Glu103Lys)
3g.46895842G>CCA352492210PTH1Rc.286G>C (p.Glu96Gln)
n.306G>C
c.193G>C (p.Glu65Gln)
c.325G>C (p.Glu109Gln)
c.307G>C (p.Glu103Gln)
3g.46895842G>TCA352492211PTH1Rc.286G>T (p.Glu96Ter)
n.306G>T
c.193G>T (p.Glu65Ter)
c.325G>T (p.Glu109Ter)
c.307G>T (p.Glu103Ter)
3g.46895843A>CCA352492212PTH1Rc.287A>C (p.Glu96Ala)
n.307A>C
c.194A>C (p.Glu65Ala)
c.326A>C (p.Glu109Ala)
c.308A>C (p.Glu103Ala)
3g.46895843A>GCA352492213PTH1Rc.287A>G (p.Glu96Gly)
n.307A>G
c.194A>G (p.Glu65Gly)
c.326A>G (p.Glu109Gly)
c.308A>G (p.Glu103Gly)
3g.46895843A>TCA352492214PTH1Rc.287A>T (p.Glu96Val)
n.307A>T
c.194A>T (p.Glu65Val)
c.326A>T (p.Glu109Val)
c.308A>T (p.Glu103Val)
3g.46895844G>ACA433466824PTH1Rc.288G>A (p.Glu96=)
n.308G>A
c.195G>A (p.Glu65=)
c.327G>A (p.Glu109=)
c.309G>A (p.Glu103=)
3g.46895844G>CCA352492215PTH1Rc.288G>C (p.Glu96Asp)
n.308G>C
c.195G>C (p.Glu65Asp)
c.327G>C (p.Glu109Asp)
c.309G>C (p.Glu103Asp)
3g.46895844G>TCA352492216PTH1Rc.288G>T (p.Glu96Asp)
n.308G>T
c.195G>T (p.Glu65Asp)
c.327G>T (p.Glu109Asp)
c.309G>T (p.Glu103Asp)
 gnomAD v4
3g.46895845G>ACA352492217PTH1Rc.289G>A (p.Ala97Thr)
n.309G>A
c.196G>A (p.Ala66Thr)
c.328G>A (p.Ala110Thr)
c.310G>A (p.Ala104Thr)
3g.46895845G>CCA352492218PTH1Rc.289G>C (p.Ala97Pro)
n.309G>C
c.196G>C (p.Ala66Pro)
c.328G>C (p.Ala110Pro)
c.310G>C (p.Ala104Pro)
3g.46895845G>TCA352492219PTH1Rc.289G>T (p.Ala97Ser)
n.309G>T
c.196G>T (p.Ala66Ser)
c.328G>T (p.Ala110Ser)
c.310G>T (p.Ala104Ser)
3g.46895846C>ACA352492220PTH1Rc.290C>A (p.Ala97Glu)
n.310C>A
c.197C>A (p.Ala66Glu)
c.329C>A (p.Ala110Glu)
c.311C>A (p.Ala104Glu)
3g.46895846C>GCA352492221PTH1Rc.290C>G (p.Ala97Gly)
n.310C>G
c.197C>G (p.Ala66Gly)
c.329C>G (p.Ala110Gly)
c.311C>G (p.Ala104Gly)
3g.46895846C>TCA352492222PTH1Rc.290C>T (p.Ala97Val)
n.310C>T
c.197C>T (p.Ala66Val)
c.329C>T (p.Ala110Val)
c.311C>T (p.Ala104Val)
 gnomAD v4
3g.46895847A>CCA433466840PTH1Rc.291A>C (p.Ala97=)
n.311A>C
c.198A>C (p.Ala66=)
c.330A>C (p.Ala110=)
c.312A>C (p.Ala104=)
 gnomAD v4
3g.46895847A>GCA433466842PTH1Rc.291A>G (p.Ala97=)
n.311A>G
c.198A>G (p.Ala66=)
c.330A>G (p.Ala110=)
c.312A>G (p.Ala104=)
3g.46895847A>TCA433466844PTH1Rc.291A>T (p.Ala97=)
n.311A>T
c.198A>T (p.Ala66=)
c.330A>T (p.Ala110=)
c.312A>T (p.Ala104=)
3g.46895848C>ACA352492223PTH1Rc.292C>A (p.Pro98Thr)
n.312C>A
c.199C>A (p.Pro67Thr)
c.331C>A (p.Pro111Thr)
c.313C>A (p.Pro105Thr)
 gnomAD v4
3g.46895848C>GCA352492224PTH1Rc.292C>G (p.Pro98Ala)
n.312C>G
c.199C>G (p.Pro67Ala)
c.331C>G (p.Pro111Ala)
c.313C>G (p.Pro105Ala)
3g.46895848C>TCA352492225PTH1Rc.292C>T (p.Pro98Ser)
n.312C>T
c.199C>T (p.Pro67Ser)
c.331C>T (p.Pro111Ser)
c.313C>T (p.Pro105Ser)
3g.46895849C>ACA352492226PTH1Rc.293C>A (p.Pro98His)
n.313C>A
c.200C>A (p.Pro67His)
c.332C>A (p.Pro111His)
c.314C>A (p.Pro105His)
3g.46895849C=CA1362308023PTH1Rc.293C= (p.Pro98=)
n.313C=
c.200C= (p.Pro67=)
c.332C= (p.Pro111=)
c.314C= (p.Pro105=)
3g.46895849C>GCA352492227PTH1Rc.293C>G (p.Pro98Arg)
n.313C>G
c.200C>G (p.Pro67Arg)
c.332C>G (p.Pro111Arg)
c.314C>G (p.Pro105Arg)
3g.46895849C>TCA352492228PTH1Rc.293C>T (p.Pro98Leu)
n.313C>T
c.200C>T (p.Pro67Leu)
c.332C>T (p.Pro111Leu)
c.314C>T (p.Pro105Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46895850C>ACA433466900PTH1Rc.294C>A (p.Pro98=)
n.314C>A
c.201C>A (p.Pro67=)
c.333C>A (p.Pro111=)
c.315C>A (p.Pro105=)
3g.46895850C>GCA433466891PTH1Rc.294C>G (p.Pro98=)
n.314C>G
c.201C>G (p.Pro67=)
c.333C>G (p.Pro111=)
c.315C>G (p.Pro105=)
3g.46895850C>TCA433466895PTH1Rc.294C>T (p.Pro98=)
n.314C>T
c.201C>T (p.Pro67=)
c.333C>T (p.Pro111=)
c.315C>T (p.Pro105=)
3g.46895851A>CCA352492230PTH1Rc.295A>C (p.Thr99Pro)
n.315A>C
c.202A>C (p.Thr68Pro)
c.334A>C (p.Thr112Pro)
c.316A>C (p.Thr106Pro)
3g.46895851A>GCA352492231PTH1Rc.295A>G (p.Thr99Ala)
n.315A>G
c.202A>G (p.Thr68Ala)
c.334A>G (p.Thr112Ala)
c.316A>G (p.Thr106Ala)
3g.46895851A>TCA352492229PTH1Rc.295A>T (p.Thr99Ser)
n.315A>T
c.202A>T (p.Thr68Ser)
c.334A>T (p.Thr112Ser)
c.316A>T (p.Thr106Ser)
3g.46895852C>ACA352492234PTH1Rc.296C>A (p.Thr99Asn)
n.316C>A
c.203C>A (p.Thr68Asn)
c.335C>A (p.Thr112Asn)
c.317C>A (p.Thr106Asn)
3g.46895852C=CA1362308025PTH1Rc.296C= (p.Thr99=)
n.316C=
c.203C= (p.Thr68=)
c.335C= (p.Thr112=)
c.317C= (p.Thr106=)
3g.46895852C>GCA352492232PTH1Rc.296C>G (p.Thr99Ser)
n.316C>G
c.203C>G (p.Thr68Ser)
c.335C>G (p.Thr112Ser)
c.317C>G (p.Thr106Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.46895852C>TCA352492233PTH1Rc.296C>T (p.Thr99Ile)
n.316C>T
c.203C>T (p.Thr68Ile)
c.335C>T (p.Thr112Ile)
c.317C>T (p.Thr106Ile)
3g.46895853T>ACA433466927PTH1Rc.297T>A (p.Thr99=)
n.317T>A
c.204T>A (p.Thr68=)
c.336T>A (p.Thr112=)
c.318T>A (p.Thr106=)
3g.46895853T>CCA433466928PTH1Rc.297T>C (p.Thr99=)
n.317T>C
c.204T>C (p.Thr68=)
c.336T>C (p.Thr112=)
c.318T>C (p.Thr106=)
3g.46895853T>GCA433466932PTH1Rc.297T>G (p.Thr99=)
n.317T>G
c.204T>G (p.Thr68=)
c.336T>G (p.Thr112=)
c.318T>G (p.Thr106=)
3g.46895854G>ACA352492235PTH1Rc.298G>A (p.Gly100Ser)
n.318G>A
c.205G>A (p.Gly69Ser)
c.337G>A (p.Gly113Ser)
c.319G>A (p.Gly107Ser)
3g.46895854G>CCA352492236PTH1Rc.298G>C (p.Gly100Arg)
n.318G>C
c.205G>C (p.Gly69Arg)
c.337G>C (p.Gly113Arg)
c.319G>C (p.Gly107Arg)
3g.46895854G>TCA352492237PTH1Rc.298G>T (p.Gly100Cys)
n.318G>T
c.205G>T (p.Gly69Cys)
c.337G>T (p.Gly113Cys)
c.319G>T (p.Gly107Cys)
 COSMIC
3g.46895855G>ACA2359135PTH1Rc.299G>A (p.Gly100Asp)
n.319G>A
c.206G>A (p.Gly69Asp)
c.338G>A (p.Gly113Asp)
c.320G>A (p.Gly107Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895855G>CCA352492238PTH1Rc.299G>C (p.Gly100Ala)
n.319G>C
c.206G>C (p.Gly69Ala)
c.338G>C (p.Gly113Ala)
c.320G>C (p.Gly107Ala)
3g.46895855G=CA1362308030PTH1Rc.299G= (p.Gly100=)
n.319G=
c.206G= (p.Gly69=)
c.338G= (p.Gly113=)
c.320G= (p.Gly107=)
3g.46895855G>TCA352492239PTH1Rc.299G>T (p.Gly100Val)
n.319G>T
c.206G>T (p.Gly69Val)
c.338G>T (p.Gly113Val)
c.320G>T (p.Gly107Val)
3g.46895856C>ACA433466963PTH1Rc.300C>A (p.Gly100=)
n.320C>A
c.207C>A (p.Gly69=)
c.339C>A (p.Gly113=)
c.321C>A (p.Gly107=)
3g.46895856C=CA1362308034PTH1Rc.300C= (p.Gly100=)
n.320C=
c.207C= (p.Gly69=)
c.339C= (p.Gly113=)
c.321C= (p.Gly107=)
3g.46895856C>GCA433466966PTH1Rc.300C>G (p.Gly100=)
n.320C>G
c.207C>G (p.Gly69=)
c.339C>G (p.Gly113=)
c.321C>G (p.Gly107=)
3g.46895856C>TCA73767648PTH1Rc.300C>T (p.Gly100=)
n.320C>T
c.207C>T (p.Gly69=)
c.339C>T (p.Gly113=)
c.321C>T (p.Gly107=)
 dbSNP gnomAD v4
3g.46895857A=CA1362308039PTH1Rc.301A= (p.Ser101=)
n.321A=
c.208A= (p.Ser70=)
c.340A= (p.Ser114=)
c.322A= (p.Ser108=)
3g.46895857A>CCA352492240PTH1Rc.301A>C (p.Ser101Arg)
n.321A>C
c.208A>C (p.Ser70Arg)
c.340A>C (p.Ser114Arg)
c.322A>C (p.Ser108Arg)
 dbSNP gnomAD v4
3g.46895857A>GCA352492241PTH1Rc.301A>G (p.Ser101Gly)
n.321A>G
c.208A>G (p.Ser70Gly)
c.340A>G (p.Ser114Gly)
c.322A>G (p.Ser108Gly)
3g.46895857A>TCA352492242PTH1Rc.301A>T (p.Ser101Cys)
n.321A>T
c.208A>T (p.Ser70Cys)
c.340A>T (p.Ser114Cys)
c.322A>T (p.Ser108Cys)
3g.46895858G>ACA352492245PTH1Rc.302G>A (p.Ser101Asn)
n.322G>A
c.209G>A (p.Ser70Asn)
c.341G>A (p.Ser114Asn)
c.323G>A (p.Ser108Asn)
3g.46895858G>CCA352492243PTH1Rc.302G>C (p.Ser101Thr)
n.322G>C
c.209G>C (p.Ser70Thr)
c.341G>C (p.Ser114Thr)
c.323G>C (p.Ser108Thr)
3g.46895858G>TCA352492244PTH1Rc.302G>T (p.Ser101Ile)
n.322G>T
c.209G>T (p.Ser70Ile)
c.341G>T (p.Ser114Ile)
c.323G>T (p.Ser108Ile)
3g.46895859C>ACA352492246PTH1Rc.303C>A (p.Ser101Arg)
n.323C>A
c.210C>A (p.Ser70Arg)
c.342C>A (p.Ser114Arg)
c.324C>A (p.Ser108Arg)
3g.46895859C=CA1362308043PTH1Rc.303C= (p.Ser101=)
n.323C=
c.210C= (p.Ser70=)
c.342C= (p.Ser114=)
c.324C= (p.Ser108=)
3g.46895859C>GCA352492247PTH1Rc.303C>G (p.Ser101Arg)
n.323C>G
c.210C>G (p.Ser70Arg)
c.342C>G (p.Ser114Arg)
c.324C>G (p.Ser108Arg)
3g.46895859C>TCA73767653PTH1Rc.303C>T (p.Ser101=)
n.323C>T
c.210C>T (p.Ser70=)
c.342C>T (p.Ser114=)
c.324C>T (p.Ser108=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46895860A=CA1362308046PTH1Rc.304A= (p.Arg102=)
n.324A=
c.211A= (p.Arg71=)
c.343A= (p.Arg115=)
c.325A= (p.Arg109=)
3g.46895860A>CCA433467008PTH1Rc.304A>C (p.Arg102=)
n.324A>C
c.211A>C (p.Arg71=)
c.343A>C (p.Arg115=)
c.325A>C (p.Arg109=)
3g.46895860A>GCA352492248PTH1Rc.304A>G (p.Arg102Gly)
n.324A>G
c.211A>G (p.Arg71Gly)
c.343A>G (p.Arg115Gly)
c.325A>G (p.Arg109Gly)
 dbSNP
3g.46895860A>TCA352492249PTH1Rc.304A>T (p.Arg102Trp)
n.324A>T
c.211A>T (p.Arg71Trp)
c.343A>T (p.Arg115Trp)
c.325A>T (p.Arg109Trp)
3g.46895861G>ACA352492250PTH1Rc.305G>A (p.Arg102Lys)
n.325G>A
c.212G>A (p.Arg71Lys)
c.344G>A (p.Arg115Lys)
c.326G>A (p.Arg109Lys)
3g.46895861G>CCA352492251PTH1Rc.305G>C (p.Arg102Thr)
n.325G>C
c.212G>C (p.Arg71Thr)
c.344G>C (p.Arg115Thr)
c.326G>C (p.Arg109Thr)
3g.46895861G>TCA352492252PTH1Rc.305G>T (p.Arg102Met)
n.325G>T
c.212G>T (p.Arg71Met)
c.344G>T (p.Arg115Met)
c.326G>T (p.Arg109Met)
3g.46895862G>ACA433467044PTH1Rc.306G>A (p.Arg102=)
n.326G>A
c.213G>A (p.Arg71=)
c.345G>A (p.Arg115=)
c.327G>A (p.Arg109=)
 gnomAD v4
3g.46895862G>CCA352492253PTH1Rc.306G>C (p.Arg102Ser)
n.326G>C
c.213G>C (p.Arg71Ser)
c.345G>C (p.Arg115Ser)
c.327G>C (p.Arg109Ser)
3g.46895862G>TCA352492254PTH1Rc.306G>T (p.Arg102Ser)
n.326G>T
c.213G>T (p.Arg71Ser)
c.345G>T (p.Arg115Ser)
c.327G>T (p.Arg109Ser)
3g.46895863T>ACA352492255PTH1Rc.307T>A (p.Tyr103Asn)
n.327T>A
c.214T>A (p.Tyr72Asn)
c.346T>A (p.Tyr116Asn)
c.328T>A (p.Tyr110Asn)
3g.46895863T>CCA352492256PTH1Rc.307T>C (p.Tyr103His)
n.327T>C
c.214T>C (p.Tyr72His)
c.346T>C (p.Tyr116His)
c.328T>C (p.Tyr110His)
3g.46895863T>GCA352492257PTH1Rc.307T>G (p.Tyr103Asp)
n.327T>G
c.214T>G (p.Tyr72Asp)
c.346T>G (p.Tyr116Asp)
c.328T>G (p.Tyr110Asp)
 dbSNP
3g.46895863T=CA1362308049PTH1Rc.307T= (p.Tyr103=)
n.327T=
c.214T= (p.Tyr72=)
c.346T= (p.Tyr116=)
c.328T= (p.Tyr110=)
3g.46895864A>CCA352492259PTH1Rc.308A>C (p.Tyr103Ser)
n.328A>C
c.215A>C (p.Tyr72Ser)
c.347A>C (p.Tyr116Ser)
c.329A>C (p.Tyr110Ser)
3g.46895864A>GCA352492260PTH1Rc.308A>G (p.Tyr103Cys)
n.328A>G
c.215A>G (p.Tyr72Cys)
c.347A>G (p.Tyr116Cys)
c.329A>G (p.Tyr110Cys)
3g.46895864A>TCA352492258PTH1Rc.308A>T (p.Tyr103Phe)
n.328A>T
c.215A>T (p.Tyr72Phe)
c.347A>T (p.Tyr116Phe)
c.329A>T (p.Tyr110Phe)
3g.46895865C>ACA352492261PTH1Rc.309C>A (p.Tyr103Ter)
n.329C>A
c.216C>A (p.Tyr72Ter)
c.348C>A (p.Tyr116Ter)
c.330C>A (p.Tyr110Ter)
3g.46895865C>GCA352492262PTH1Rc.309C>G (p.Tyr103Ter)
n.329C>G
c.216C>G (p.Tyr72Ter)
c.348C>G (p.Tyr116Ter)
c.330C>G (p.Tyr110Ter)
3g.46895865C>TCA433467086PTH1Rc.309C>T (p.Tyr103=)
n.329C>T
c.216C>T (p.Tyr72=)
c.348C>T (p.Tyr116=)
c.330C>T (p.Tyr110=)
3g.46895866C>ACA433467096PTH1Rc.310C>A (p.Arg104=)
n.330C>A
c.217C>A (p.Arg73=)
c.349C>A (p.Arg117=)
c.331C>A (p.Arg111=)
3g.46895866C=CA1362308051PTH1Rc.310C= (p.Arg104=)
n.330C=
c.217C= (p.Arg73=)
c.349C= (p.Arg117=)
c.331C= (p.Arg111=)
3g.46895866C>GCA352492263PTH1Rc.310C>G (p.Arg104Gly)
n.330C>G
c.217C>G (p.Arg73Gly)
c.349C>G (p.Arg117Gly)
c.331C>G (p.Arg111Gly)
3g.46895866C>TCA123430PTH1Rc.310C>T (p.Arg104Ter)
n.330C>T
c.217C>T (p.Arg73Ter)
c.349C>T (p.Arg117Ter)
c.331C>T (p.Arg111Ter)
 ClinVar dbSNP gnomAD v4
3g.46895867G>ACA2359136PTH1Rc.311G>A (p.Arg104Gln)
n.331G>A
c.218G>A (p.Arg73Gln)
c.350G>A (p.Arg117Gln)
c.332G>A (p.Arg111Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895867G>CCA352492264PTH1Rc.311G>C (p.Arg104Pro)
n.331G>C
c.218G>C (p.Arg73Pro)
c.350G>C (p.Arg117Pro)
c.332G>C (p.Arg111Pro)
3g.46895867G=CA1362308056PTH1Rc.311G= (p.Arg104=)
n.331G=
c.218G= (p.Arg73=)
c.350G= (p.Arg117=)
c.332G= (p.Arg111=)
3g.46895867G>TCA352492265PTH1Rc.311G>T (p.Arg104Leu)
n.331G>T
c.218G>T (p.Arg73Leu)
c.350G>T (p.Arg117Leu)
c.332G>T (p.Arg111Leu)
3g.46895868A>CCA433467116PTH1Rc.312A>C (p.Arg104=)
n.332A>C
c.219A>C (p.Arg73=)
c.351A>C (p.Arg117=)
c.333A>C (p.Arg111=)
3g.46895868A>GCA433467123PTH1Rc.312A>G (p.Arg104=)
n.332A>G
c.219A>G (p.Arg73=)
c.351A>G (p.Arg117=)
c.333A>G (p.Arg111=)
3g.46895868A>TCA433467126PTH1Rc.312A>T (p.Arg104=)
n.332A>T
c.219A>T (p.Arg73=)
c.351A>T (p.Arg117=)
c.333A>T (p.Arg111=)
3g.46895869G>ACA352492266PTH1Rc.313G>A (p.Gly105Arg)
n.333G>A
c.220G>A (p.Gly74Arg)
c.352G>A (p.Gly118Arg)
c.334G>A (p.Gly112Arg)
3g.46895869G>CCA352492267PTH1Rc.313G>C (p.Gly105Arg)
n.333G>C
c.220G>C (p.Gly74Arg)
c.352G>C (p.Gly118Arg)
c.334G>C (p.Gly112Arg)
3g.46895869G>TCA352492268PTH1Rc.313G>T (p.Gly105Trp)
n.333G>T
c.220G>T (p.Gly74Trp)
c.352G>T (p.Gly118Trp)
c.334G>T (p.Gly112Trp)
3g.46895870G>ACA352492269PTH1Rc.313+1G>A (n.313+1G>A)
n.333+1G>A
c.220+1G>A (n.220+1G>A)
c.352+1G>A (n.352+1G>A)
c.334+1G>A (n.334+1G>A)
3g.46895870G>CCA352492270PTH1Rc.313+1G>C (n.313+1G>C)
n.333+1G>C
c.220+1G>C (n.220+1G>C)
c.352+1G>C (n.352+1G>C)
c.334+1G>C (n.334+1G>C)
3g.46895870G>TCA352492271PTH1Rc.313+1G>T (n.313+1G>T)
n.333+1G>T
c.220+1G>T (n.220+1G>T)
c.352+1G>T (n.352+1G>T)
c.334+1G>T (n.334+1G>T)
3g.46895871T>ACA352492273PTH1Rc.313+2T>A (n.313+2T>A)
n.333+2T>A
c.220+2T>A (n.220+2T>A)
c.352+2T>A (n.352+2T>A)
c.334+2T>A (n.334+2T>A)
3g.46895871T>CCA352492274PTH1Rc.313+2T>C (n.313+2T>C)
n.333+2T>C
c.220+2T>C (n.220+2T>C)
c.352+2T>C (n.352+2T>C)
c.334+2T>C (n.334+2T>C)
3g.46895871T>GCA352492272PTH1Rc.313+2T>G (n.313+2T>G)
n.333+2T>G
c.220+2T>G (n.220+2T>G)
c.352+2T>G (n.352+2T>G)
c.334+2T>G (n.334+2T>G)
 dbSNP
3g.46895871T=CA1362308059PTH1Rc.313+2T= (n.313+2T=)
n.333+2T=
c.220+2T= (n.220+2T=)
c.352+2T= (n.352+2T=)
c.334+2T= (n.334+2T=)
3g.46895872A=CA1362308061PTH1Rc.313+3A= (n.313+3A=)
n.333+3A=
c.220+3A= (n.220+3A=)
c.352+3A= (n.352+3A=)
c.334+3A= (n.334+3A=)
3g.46895872A>TCA907618495PTH1Rc.313+3A>T (n.313+3A>T)
n.333+3A>T
c.220+3A>T (n.220+3A>T)
c.352+3A>T (n.352+3A>T)
c.334+3A>T (n.334+3A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.46895873C=CA1362308062PTH1Rc.313+4C= (n.313+4C=)
n.333+4C=
c.220+4C= (n.220+4C=)
c.352+4C= (n.352+4C=)
c.334+4C= (n.334+4C=)
3g.46895873C>TCA2359137PTH1Rc.313+4C>T (n.313+4C>T)
n.333+4C>T
c.220+4C>T (n.220+4C>T)
c.352+4C>T (n.352+4C>T)
c.334+4C>T (n.334+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46895874G>ACA73767698PTH1Rc.313+5G>A (n.313+5G>A)
n.333+5G>A
c.220+5G>A (n.220+5G>A)
c.352+5G>A (n.352+5G>A)
c.334+5G>A (n.334+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46895874G=CA1362308068PTH1Rc.313+5G= (n.313+5G=)
n.333+5G=
c.220+5G= (n.220+5G=)
c.352+5G= (n.352+5G=)
c.334+5G= (n.334+5G=)
3g.46895875T>GCA2665482020PTH1Rc.313+6T>G (n.313+6T>G)
n.333+6T>G
c.220+6T>G (n.220+6T>G)
c.352+6T>G (n.352+6T>G)
c.334+6T>G (n.334+6T>G)
 gnomAD v4
3g.46895876C=CA1362308070PTH1Rc.313+7C= (n.313+7C=)
n.333+7C=
c.220+7C= (n.220+7C=)
c.352+7C= (n.352+7C=)
c.334+7C= (n.334+7C=)
3g.46895876C>TCA2359138PTH1Rc.313+7C>T (n.313+7C>T)
n.333+7C>T
c.220+7C>T (n.220+7C>T)
c.352+7C>T (n.352+7C>T)
c.334+7C>T (n.334+7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46895878C>TCA2577579634PTH1Rc.313+9C>T (n.313+9C>T)
n.333+9C>T
c.220+9C>T (n.220+9C>T)
c.352+9C>T (n.352+9C>T)
c.334+9C>T (n.334+9C>T)
3g.46895880G>ACA542731314PTH1Rc.313+11G>A (n.313+11G>A)
n.333+11G>A
c.220+11G>A (n.220+11G>A)
c.352+11G>A (n.352+11G>A)
c.334+11G>A (n.334+11G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46895880G=CA1362308073PTH1Rc.313+11G= (n.313+11G=)
n.333+11G=
c.220+11G= (n.220+11G=)
c.352+11G= (n.352+11G=)
c.334+11G= (n.334+11G=)
3g.46895881C>TCA2665482021PTH1Rc.313+12C>T (n.313+12C>T)
n.333+12C>T
c.220+12C>T (n.220+12C>T)
c.352+12C>T (n.352+12C>T)
c.334+12C>T (n.334+12C>T)
 gnomAD v4

Number of alleles fetched