| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.229859051C>A | CA66715736 | TRIP12 | c.748G>T (p.Ala250Ser) c.622G>T (p.Ala208Ser) c.471G>T n.913G>T c.98+20931G>T (n.98+20931G>T) c.232G>T (p.Ala78Ser) n.801G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.229859051C= | CA1334060089 | TRIP12 | c.748G= (p.Ala250=) c.622G= (p.Ala208=) c.471G= n.913G= c.98+20931G= (n.98+20931G=) c.232G= (p.Ala78=) n.801G= | dbSNP |
| 2 | g.229859051C>G | CA350895981 | TRIP12 | c.748G>C (p.Ala250Pro) c.622G>C (p.Ala208Pro) c.471G>C n.913G>C c.98+20931G>C (n.98+20931G>C) c.232G>C (p.Ala78Pro) n.801G>C | dbSNP gnomAD v4 |
| 2 | g.229859051C>T | CA2153455 | TRIP12 | c.748G>A (p.Ala250Thr) c.622G>A (p.Ala208Thr) c.471G>A n.913G>A c.98+20931G>A (n.98+20931G>A) c.232G>A (p.Ala78Thr) n.801G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.229859052A>C | CA431667479 | TRIP12 | c.747T>G (p.Ser249=) c.621T>G (p.Ser207=) c.470T>G n.912T>G c.98+20930T>G (n.98+20930T>G) c.231T>G (p.Ser77=) n.800T>G | |
| 2 | g.229859052A>G | CA431667480 | TRIP12 | c.747T>C (p.Ser249=) c.621T>C (p.Ser207=) c.470T>C n.912T>C c.98+20930T>C (n.98+20930T>C) c.231T>C (p.Ser77=) n.800T>C | |
| 2 | g.229859052A>T | CA431667481 | TRIP12 | c.747T>A (p.Ser249=) c.621T>A (p.Ser207=) c.470T>A n.912T>A c.98+20930T>A (n.98+20930T>A) c.231T>A (p.Ser77=) n.800T>A | ClinVar |
| 2 | g.229859053G>A | CA350895984 | TRIP12 | c.746C>T (p.Ser249Phe) c.620C>T (p.Ser207Phe) c.469C>T n.911C>T c.98+20929C>T (n.98+20929C>T) c.230C>T (p.Ser77Phe) n.799C>T | COSMIC |
| 2 | g.229859053G>C | CA350895982 | TRIP12 | c.746C>G (p.Ser249Cys) c.620C>G (p.Ser207Cys) c.469C>G n.911C>G c.98+20929C>G (n.98+20929C>G) c.230C>G (p.Ser77Cys) n.799C>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.229859053G= | CA1334060090 | TRIP12 | c.746C= (p.Ser249=) c.620C= (p.Ser207=) c.469C= n.911C= c.98+20929C= (n.98+20929C=) c.230C= (p.Ser77=) n.799C= | dbSNP |
| 2 | g.229859053G>T | CA350895983 | TRIP12 | c.746C>A (p.Ser249Tyr) c.620C>A (p.Ser207Tyr) c.469C>A n.911C>A c.98+20929C>A (n.98+20929C>A) c.230C>A (p.Ser77Tyr) n.799C>A | |
| 2 | g.229859054A= | CA3097596892 | TRIP12 | c.745T= (p.Ser249=) c.619T= (p.Ser207=) c.468T= n.910T= c.98+20928T= (n.98+20928T=) c.229T= (p.Ser77=) n.798T= | dbSNP |
| 2 | g.229859054A>C | CA350895987 | TRIP12 | c.745T>G (p.Ser249Ala) c.619T>G (p.Ser207Ala) c.468T>G n.910T>G c.98+20928T>G (n.98+20928T>G) c.229T>G (p.Ser77Ala) n.798T>G | |
| 2 | g.229859054A>G | CA350895991 | TRIP12 | c.745T>C (p.Ser249Pro) c.619T>C (p.Ser207Pro) c.468T>C n.910T>C c.98+20928T>C (n.98+20928T>C) c.229T>C (p.Ser77Pro) n.798T>C | dbSNP gnomAD v4 |
| 2 | g.229859054A>T | CA350896004 | TRIP12 | c.745T>A (p.Ser249Thr) c.619T>A (p.Ser207Thr) c.468T>A n.910T>A c.98+20928T>A (n.98+20928T>A) c.229T>A (p.Ser77Thr) n.798T>A | |
| 2 | g.229859055A= | CA1334060091 | TRIP12 | c.744T= (p.Ser248=) c.618T= (p.Ser206=) c.467T= n.909T= c.98+20927T= (n.98+20927T=) c.228T= (p.Ser76=) n.797T= | dbSNP |
| 2 | g.229859055A>C | CA431667483 | TRIP12 | c.744T>G (p.Ser248=) c.618T>G (p.Ser206=) c.467T>G n.909T>G c.98+20927T>G (n.98+20927T>G) c.228T>G (p.Ser76=) n.797T>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.229859055A>G | CA431667484 | TRIP12 | c.744T>C (p.Ser248=) c.618T>C (p.Ser206=) c.467T>C n.909T>C c.98+20927T>C (n.98+20927T>C) c.228T>C (p.Ser76=) n.797T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.229859055A>T | CA431667485 | TRIP12 | c.744T>A (p.Ser248=) c.618T>A (p.Ser206=) c.467T>A n.909T>A c.98+20927T>A (n.98+20927T>A) c.228T>A (p.Ser76=) n.797T>A | |
| 2 | g.229859056G>A | CA350896005 | TRIP12 | c.743C>T (p.Ser248Phe) c.617C>T (p.Ser206Phe) c.466C>T n.908C>T c.98+20926C>T (n.98+20926C>T) c.227C>T (p.Ser76Phe) n.796C>T | |
| 2 | g.229859056G>C | CA350896006 | TRIP12 | c.743C>G (p.Ser248Cys) c.617C>G (p.Ser206Cys) c.466C>G n.908C>G c.98+20926C>G (n.98+20926C>G) c.227C>G (p.Ser76Cys) n.796C>G | dbSNP gnomAD v4 |
| 2 | g.229859056G= | CA3097596894 | TRIP12 | c.743C= (p.Ser248=) c.617C= (p.Ser206=) c.466C= n.908C= c.98+20926C= (n.98+20926C=) c.227C= (p.Ser76=) n.796C= | dbSNP |
| 2 | g.229859056G>T | CA350896008 | TRIP12 | c.743C>A (p.Ser248Tyr) c.617C>A (p.Ser206Tyr) c.466C>A n.908C>A c.98+20926C>A (n.98+20926C>A) c.227C>A (p.Ser76Tyr) n.796C>A | |
| 2 | g.229859057A= | CA3097596899 | TRIP12 | c.742T= (p.Ser248=) c.616T= (p.Ser206=) c.465T= n.907T= c.98+20925T= (n.98+20925T=) c.226T= (p.Ser76=) n.795T= | dbSNP |
| 2 | g.229859057A>C | CA350896012 | TRIP12 | c.742T>G (p.Ser248Ala) c.616T>G (p.Ser206Ala) c.465T>G n.907T>G c.98+20925T>G (n.98+20925T>G) c.226T>G (p.Ser76Ala) n.795T>G | |
| 2 | g.229859057A>G | CA350896019 | TRIP12 | c.742T>C (p.Ser248Pro) c.616T>C (p.Ser206Pro) c.465T>C n.907T>C c.98+20925T>C (n.98+20925T>C) c.226T>C (p.Ser76Pro) n.795T>C | dbSNP gnomAD v4 |
| 2 | g.229859057A>T | CA350896021 | TRIP12 | c.742T>A (p.Ser248Thr) c.616T>A (p.Ser206Thr) c.465T>A n.907T>A c.98+20925T>A (n.98+20925T>A) c.226T>A (p.Ser76Thr) n.795T>A | |
| 2 | g.229859058C>A | CA431667486 | TRIP12 | c.741G>T (p.Ser247=) c.615G>T (p.Ser205=) c.464G>T n.906G>T c.98+20924G>T (n.98+20924G>T) c.225G>T (p.Ser75=) n.794G>T | dbSNP gnomAD v4 |
| 2 | g.229859058C= | CA1334060092 | TRIP12 | c.741G= (p.Ser247=) c.615G= (p.Ser205=) c.464G= n.906G= c.98+20924G= (n.98+20924G=) c.225G= (p.Ser75=) n.794G= | dbSNP |
| 2 | g.229859058C>G | CA431667487 | TRIP12 | c.741G>C (p.Ser247=) c.615G>C (p.Ser205=) c.464G>C n.906G>C c.98+20924G>C (n.98+20924G>C) c.225G>C (p.Ser75=) n.794G>C | dbSNP gnomAD v4 |
| 2 | g.229859058C>T | CA2153456 | TRIP12 | c.741G>A (p.Ser247=) c.615G>A (p.Ser205=) c.464G>A n.906G>A c.98+20924G>A (n.98+20924G>A) c.225G>A (p.Ser75=) n.794G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.229859058_229859061delinsCGAG | CA1334060093 | TRIP12 | c.738_741delinsCTCG (p.Ser246=) c.612_615delinsCTCG (p.Ser204=) c.461_464delinsCTCG n.903_906delinsCTCG c.98+20921_98+20924delinsCTCG (n.98+20921_98+20924delinsCTCG) c.222_225delinsCTCG (p.Ser74=) n.791_794delinsCTCG | |
| 2 | g.229859059G>A | CA2153457 | TRIP12 | c.740C>T (p.Ser247Leu) c.614C>T (p.Ser205Leu) c.463C>T n.905C>T c.98+20923C>T (n.98+20923C>T) c.224C>T (p.Ser75Leu) n.793C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.229859059G>C | CA350896047 | TRIP12 | c.740C>G (p.Ser247Trp) c.614C>G (p.Ser205Trp) c.463C>G n.905C>G c.98+20923C>G (n.98+20923C>G) c.224C>G (p.Ser75Trp) n.793C>G | dbSNP gnomAD v4 |
| 2 | g.229859059G= | CA1334060094 | TRIP12 | c.740C= (p.Ser247=) c.614C= (p.Ser205=) c.463C= n.905C= c.98+20923C= (n.98+20923C=) c.224C= (p.Ser75=) n.793C= | dbSNP |
| 2 | g.229859059G>T | CA350896038 | TRIP12 | c.740C>A (p.Ser247Ter) c.614C>A (p.Ser205Ter) c.463C>A n.905C>A c.98+20923C>A (n.98+20923C>A) c.224C>A (p.Ser75Ter) n.793C>A | |
| 2 | g.229859064_229859066del | CA66715756 | TRIP12 | c.738_740del (p.Ser247del) c.612_614del (p.Ser205del) c.461_463del n.903_905del c.98+20921_98+20923del (n.98+20921_98+20923del) c.222_224del (p.Ser75del) n.791_793del | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.229859060A= | CA3097596909 | TRIP12 | c.739T= (p.Ser247=) c.613T= (p.Ser205=) c.462T= n.904T= c.98+20922T= (n.98+20922T=) c.223T= (p.Ser75=) n.792T= | dbSNP |
| 2 | g.229859060A>C | CA350896068 | TRIP12 | c.739T>G (p.Ser247Ala) c.613T>G (p.Ser205Ala) c.462T>G n.904T>G c.98+20922T>G (n.98+20922T>G) c.223T>G (p.Ser75Ala) n.792T>G | |
| 2 | g.229859060A>G | CA350896071 | TRIP12 | c.739T>C (p.Ser247Pro) c.613T>C (p.Ser205Pro) c.462T>C n.904T>C c.98+20922T>C (n.98+20922T>C) c.223T>C (p.Ser75Pro) n.792T>C | dbSNP gnomAD v4 |
| 2 | g.229859060A>T | CA350896072 | TRIP12 | c.739T>A (p.Ser247Thr) c.613T>A (p.Ser205Thr) c.462T>A n.904T>A c.98+20922T>A (n.98+20922T>A) c.223T>A (p.Ser75Thr) n.792T>A | |
| 2 | g.229859061G>A | CA2153459 | TRIP12 | c.738C>T (p.Ser246=) c.612C>T (p.Ser204=) c.461C>T n.903C>T c.98+20921C>T (n.98+20921C>T) c.222C>T (p.Ser74=) n.791C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.229859061G>C | CA2153458 | TRIP12 | c.738C>G (p.Ser246=) c.612C>G (p.Ser204=) c.461C>G n.903C>G c.98+20921C>G (n.98+20921C>G) c.222C>G (p.Ser74=) n.791C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.229859061G= | CA1334060095 | TRIP12 | c.738C= (p.Ser246=) c.612C= (p.Ser204=) c.461C= n.903C= c.98+20921C= (n.98+20921C=) c.222C= (p.Ser74=) n.791C= | dbSNP |
| 2 | g.229859061G>T | CA431667488 | TRIP12 | c.738C>A (p.Ser246=) c.612C>A (p.Ser204=) c.461C>A n.903C>A c.98+20921C>A (n.98+20921C>A) c.222C>A (p.Ser74=) n.791C>A | dbSNP gnomAD v4 |
| 2 | g.229859062G>A | CA350896079 | TRIP12 | c.737C>T (p.Ser246Phe) c.611C>T (p.Ser204Phe) c.460C>T n.902C>T c.98+20920C>T (n.98+20920C>T) c.221C>T (p.Ser74Phe) n.790C>T | dbSNP gnomAD v4 |
| 2 | g.229859062G>C | CA2153460 | TRIP12 | c.737C>G (p.Ser246Cys) c.611C>G (p.Ser204Cys) c.460C>G n.902C>G c.98+20920C>G (n.98+20920C>G) c.221C>G (p.Ser74Cys) n.790C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.229859062G= | CA1334060096 | TRIP12 | c.737C= (p.Ser246=) c.611C= (p.Ser204=) c.460C= n.902C= c.98+20920C= (n.98+20920C=) c.221C= (p.Ser74=) n.790C= | dbSNP |
| 2 | g.229859062G>T | CA350896078 | TRIP12 | c.737C>A (p.Ser246Tyr) c.611C>A (p.Ser204Tyr) c.460C>A n.902C>A c.98+20920C>A (n.98+20920C>A) c.221C>A (p.Ser74Tyr) n.790C>A | |
| 2 | g.229859063A>C | CA350896080 | TRIP12 | c.736T>G (p.Ser246Ala) c.610T>G (p.Ser204Ala) c.459T>G n.901T>G c.98+20919T>G (n.98+20919T>G) c.220T>G (p.Ser74Ala) n.789T>G |