| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.21845274_21845279del | CA2693295762 | MBTPS2 | c.328_333del (p.Pro110_Ser111del) n.427_432del | gnomAD v4 |
| X | g.21845274_21845292delinsCCCTCTTCTTATTCTTCCT | CA2419080844 | MBTPS2 | c.328_346delinsCCCTCTTCTTATTCTTCCT (p.Pro110=) n.427_445delinsCCCTCTTCTTATTCTTCCT | |
| X | g.21845275C>A | CA412561931 | MBTPS2 | c.329C>A (p.Pro110His) n.428C>A | |
| X | g.21845275C>G | CA412561932 | MBTPS2 | c.329C>G (p.Pro110Arg) n.428C>G | |
| X | g.21845275C>T | CA412561933 | MBTPS2 | c.329C>T (p.Pro110Leu) n.428C>T | |
| X | g.21845284_21845301del | CA2419080845 | MBTPS2 | c.338_355del (p.Tyr113_Ser118del) n.437_454del | dbSNP |
| X | g.21845276C>A | CA515419371 | MBTPS2 | c.330C>A (p.Pro110=) n.429C>A | |
| X | g.21845276C>G | CA515419372 | MBTPS2 | c.330C>G (p.Pro110=) n.429C>G | |
| X | g.21845276C>T | CA515419373 | MBTPS2 | c.330C>T (p.Pro110=) n.429C>T | |
| X | g.21845277T>A | CA412561934 | MBTPS2 | c.331T>A (p.Ser111Thr) n.430T>A | |
| X | g.21845277T>C | CA412561935 | MBTPS2 | c.331T>C (p.Ser111Pro) n.430T>C | |
| X | g.21845277T>G | CA412561936 | MBTPS2 | c.331T>G (p.Ser111Ala) n.430T>G | |
| X | g.21845281_21845283del | CA2693295763 | MBTPS2 | c.335_337del (p.Ser112del) n.434_436del | gnomAD v4 |
| X | g.21845278C>A | CA412561937 | MBTPS2 | c.332C>A (p.Ser111Tyr) n.431C>A | |
| X | g.21845278C= | CA2419080846 | MBTPS2 | c.332C= (p.Ser111=) n.431C= | |
| X | g.21845278C>G | CA412561938 | MBTPS2 | c.332C>G (p.Ser111Cys) n.431C>G | |
| X | g.21845278C>T | CA10367330 | MBTPS2 | c.332C>T (p.Ser111Phe) n.431C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845279T>A | CA515419377 | MBTPS2 | c.333T>A (p.Ser111=) n.432T>A | gnomAD v4 |
| X | g.21845279T>C | CA515419376 | MBTPS2 | c.333T>C (p.Ser111=) n.432T>C | |
| X | g.21845279T>G | CA515419375 | MBTPS2 | c.333T>G (p.Ser111=) n.432T>G | |
| X | g.21845280T>A | CA412561939 | MBTPS2 | c.334T>A (p.Ser112Thr) n.433T>A | |
| X | g.21845280T>C | CA412561940 | MBTPS2 | c.334T>C (p.Ser112Pro) n.433T>C | |
| X | g.21845280T>G | CA412561941 | MBTPS2 | c.334T>G (p.Ser112Ala) n.433T>G | |
| X | g.21845281C>A | CA412561943 | MBTPS2 | c.335C>A (p.Ser112Tyr) n.434C>A | |
| X | g.21845281C>G | CA412561944 | MBTPS2 | c.335C>G (p.Ser112Cys) n.434C>G | |
| X | g.21845281C>T | CA412561942 | MBTPS2 | c.335C>T (p.Ser112Phe) n.434C>T | COSMIC |
| X | g.21845282T>A | CA515419380 | MBTPS2 | c.336T>A (p.Ser112=) n.435T>A | |
| X | g.21845282T>C | CA515419381 | MBTPS2 | c.336T>C (p.Ser112=) n.435T>C | |
| X | g.21845282T>G | CA515419382 | MBTPS2 | c.336T>G (p.Ser112=) n.435T>G | |
| X | g.21845283T>A | CA412561945 | MBTPS2 | c.337T>A (p.Tyr113Asn) n.436T>A | |
| X | g.21845283T>C | CA412561946 | MBTPS2 | c.337T>C (p.Tyr113His) n.436T>C | |
| X | g.21845283T>G | CA412561947 | MBTPS2 | c.337T>G (p.Tyr113Asp) n.436T>G | |
| X | g.21845284A= | CA2419080847 | MBTPS2 | c.338A= (p.Tyr113=) n.437A= | |
| X | g.21845284A>C | CA10367331 | MBTPS2 | c.338A>C (p.Tyr113Ser) n.437A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845284A>G | CA412561948 | MBTPS2 | c.338A>G (p.Tyr113Cys) n.437A>G | |
| X | g.21845284A>T | CA412561949 | MBTPS2 | c.338A>T (p.Tyr113Phe) n.437A>T | |
| X | g.21845285T>A | CA412561951 | MBTPS2 | c.339T>A (p.Tyr113Ter) n.438T>A | |
| X | g.21845285T>C | CA10367334 | MBTPS2 | c.339T>C (p.Tyr113=) n.438T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845285T>G | CA412561950 | MBTPS2 | c.339T>G (p.Tyr113Ter) n.438T>G | |
| X | g.21845285T= | CA2419080848 | MBTPS2 | c.339T= (p.Tyr113=) n.438T= | |
| X | g.21845285_21845303delinsTTCTTCCTCCTCTTCTTCC | CA2419080849 | MBTPS2 | c.339_357delinsTTCTTCCTCCTCTTCTTCC (p.Tyr113=) n.438_456delinsTTCTTCCTCCTCTTCTTCC | |
| X | g.21845286T>A | CA412561952 | MBTPS2 | c.340T>A (p.Ser114Thr) n.439T>A | |
| X | g.21845286T>C | CA412561953 | MBTPS2 | c.340T>C (p.Ser114Pro) n.439T>C | |
| X | g.21845286T>G | CA412561954 | MBTPS2 | c.340T>G (p.Ser114Ala) n.439T>G | |
| X | g.21845312_21845329dup | CA10367333 | MBTPS2 | c.366_383dup (p.Ser128_Ser129insSerSerSerSerSerSer) n.465_482dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845312_21845329del | CA10367332 | MBTPS2 | c.366_383del (p.Ser123_Ser128del) n.465_482del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845287C>A | CA412561955 | MBTPS2 | c.341C>A (p.Ser114Tyr) n.440C>A | |
| X | g.21845287C>G | CA412561957 | MBTPS2 | c.341C>G (p.Ser114Cys) n.440C>G | |
| X | g.21845287C>T | CA412561956 | MBTPS2 | c.341C>T (p.Ser114Phe) n.440C>T | gnomAD v4 |
| X | g.21845288T>A | CA515419389 | MBTPS2 | c.342T>A (p.Ser114=) n.441T>A | |
| X | g.21845288T>C | CA515419390 | MBTPS2 | c.342T>C (p.Ser114=) n.441T>C | |
| X | g.21845288T>G | CA515419391 | MBTPS2 | c.342T>G (p.Ser114=) n.441T>G | |
| X | g.21845289T>A | CA412561958 | MBTPS2 | c.343T>A (p.Ser115Thr) n.442T>A | |
| X | g.21845289T>C | CA412561960 | MBTPS2 | c.343T>C (p.Ser115Pro) n.442T>C | |
| X | g.21845289T>G | CA412561959 | MBTPS2 | c.343T>G (p.Ser115Ala) n.442T>G | |
| X | g.21845290C>A | CA412561961 | MBTPS2 | c.344C>A (p.Ser115Tyr) n.443C>A | |
| X | g.21845290C>G | CA412561962 | MBTPS2 | c.344C>G (p.Ser115Cys) n.443C>G | |
| X | g.21845290C>T | CA412561963 | MBTPS2 | c.344C>T (p.Ser115Phe) n.443C>T | |
| X | g.21845291C>A | CA515419393 | MBTPS2 | c.345C>A (p.Ser115=) n.444C>A | |
| X | g.21845291C>G | CA515419394 | MBTPS2 | c.345C>G (p.Ser115=) n.444C>G | |
| X | g.21845291C>T | CA515419395 | MBTPS2 | c.345C>T (p.Ser115=) n.444C>T | |
| X | g.21845292T>A | CA412561964 | MBTPS2 | c.346T>A (p.Ser116Thr) n.445T>A | |
| X | g.21845292T>C | CA412561965 | MBTPS2 | c.346T>C (p.Ser116Pro) n.445T>C | gnomAD v4 |
| X | g.21845292T>G | CA412561966 | MBTPS2 | c.346T>G (p.Ser116Ala) n.445T>G | |
| X | g.21845293C>A | CA412561967 | MBTPS2 | c.347C>A (p.Ser116Tyr) n.446C>A | |
| X | g.21845293C= | CA2419080850 | MBTPS2 | c.347C= (p.Ser116=) n.446C= | |
| X | g.21845293C>G | CA412561968 | MBTPS2 | c.347C>G (p.Ser116Cys) n.446C>G | |
| X | g.21845293C>T | CA412561969 | MBTPS2 | c.347C>T (p.Ser116Phe) n.446C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845294C>A | CA515419397 | MBTPS2 | c.348C>A (p.Ser116=) n.447C>A | COSMIC |
| X | g.21845294C= | CA2419080851 | MBTPS2 | c.348C= (p.Ser116=) n.447C= | |
| X | g.21845294C>G | CA515419398 | MBTPS2 | c.348C>G (p.Ser116=) n.447C>G | |
| X | g.21845294C>T | CA10367335 | MBTPS2 | c.348C>T (p.Ser116=) n.447C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845295T>A | CA412561970 | MBTPS2 | c.349T>A (p.Ser117Thr) n.448T>A | |
| X | g.21845295T>C | CA412561971 | MBTPS2 | c.349T>C (p.Ser117Pro) n.448T>C | |
| X | g.21845295T>G | CA412561972 | MBTPS2 | c.349T>G (p.Ser117Ala) n.448T>G | |
| X | g.21845300_21845302del | CA2693295764 | MBTPS2 | c.354_356del (p.Ser119del) n.453_455del | gnomAD v4 |
| X | g.21845296C>A | CA412561975 | MBTPS2 | c.350C>A (p.Ser117Tyr) n.449C>A | |
| X | g.21845296C>G | CA412561973 | MBTPS2 | c.350C>G (p.Ser117Cys) n.449C>G | |
| X | g.21845296C>T | CA412561974 | MBTPS2 | c.350C>T (p.Ser117Phe) n.449C>T | |
| X | g.21845297T>A | CA515419399 | MBTPS2 | c.351T>A (p.Ser117=) n.450T>A | |
| X | g.21845297T>C | CA515419400 | MBTPS2 | c.351T>C (p.Ser117=) n.450T>C | |
| X | g.21845297T>G | CA515419401 | MBTPS2 | c.351T>G (p.Ser117=) n.450T>G | |
| X | g.21845298T>A | CA412561976 | MBTPS2 | c.352T>A (p.Ser118Thr) n.451T>A | |
| X | g.21845298T>C | CA412561977 | MBTPS2 | c.352T>C (p.Ser118Pro) n.451T>C | |
| X | g.21845298T>G | CA412561978 | MBTPS2 | c.352T>G (p.Ser118Ala) n.451T>G | |
| X | g.21845299C>A | CA412561979 | MBTPS2 | c.353C>A (p.Ser118Tyr) n.452C>A | |
| X | g.21845299C>G | CA412561980 | MBTPS2 | c.353C>G (p.Ser118Cys) n.452C>G | |
| X | g.21845299C>T | CA412561981 | MBTPS2 | c.353C>T (p.Ser118Phe) n.452C>T | |
| X | g.21845300T>A | CA515419402 | MBTPS2 | c.354T>A (p.Ser118=) n.453T>A | |
| X | g.21845300T>C | CA515419403 | MBTPS2 | c.354T>C (p.Ser118=) n.453T>C | |
| X | g.21845300T>G | CA515419404 | MBTPS2 | c.354T>G (p.Ser118=) n.453T>G | |
| X | g.21845301T>A | CA412561982 | MBTPS2 | c.355T>A (p.Ser119Thr) n.454T>A | gnomAD v4 |
| X | g.21845301T>C | CA412561983 | MBTPS2 | c.355T>C (p.Ser119Pro) n.454T>C | |
| X | g.21845301T>G | CA412561984 | MBTPS2 | c.355T>G (p.Ser119Ala) n.454T>G | |
| X | g.21845309_21845317del | CA2579570801 | MBTPS2 | c.363_371del (p.Ser122_Ser124del) n.462_470del | gnomAD v4 |
| X | g.21845302C>A | CA412561985 | MBTPS2 | c.356C>A (p.Ser119Tyr) n.455C>A | dbSNP gnomAD v4 |
| X | g.21845302C= | CA2419080852 | MBTPS2 | c.356C= (p.Ser119=) n.455C= | |
| X | g.21845302C>G | CA412561986 | MBTPS2 | c.356C>G (p.Ser119Cys) n.455C>G | |
| X | g.21845302C>T | CA412561987 | MBTPS2 | c.356C>T (p.Ser119Phe) n.455C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845303C>A | CA515419406 | MBTPS2 | c.357C>A (p.Ser119=) n.456C>A | gnomAD v4 |
| X | g.21845303C= | CA2419080853 | MBTPS2 | c.357C= (p.Ser119=) n.456C= | |
| X | g.21845303C>G | CA515419407 | MBTPS2 | c.357C>G (p.Ser119=) n.456C>G | |
| X | g.21845303C>T | CA10367336 | MBTPS2 | c.357C>T (p.Ser119=) n.456C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845304T>A | CA412561989 | MBTPS2 | c.358T>A (p.Ser120Thr) n.457T>A | |
| X | g.21845304T>C | CA412561988 | MBTPS2 | c.358T>C (p.Ser120Pro) n.457T>C | |
| X | g.21845304T>G | CA412561990 | MBTPS2 | c.358T>G (p.Ser120Ala) n.457T>G | |
| X | g.21845312_21845347dup | CA2580100457 | MBTPS2 | c.366_401dup (p.Ser134_Ser135insSerSerSerSerSerSerSerSerSerSerSerSer) n.465_500dup | ClinVar |
| X | g.21845305C>A | CA412561991 | MBTPS2 | c.359C>A (p.Ser120Tyr) n.458C>A | |
| X | g.21845305C>G | CA412561992 | MBTPS2 | c.359C>G (p.Ser120Cys) n.458C>G | |
| X | g.21845305C>T | CA412561993 | MBTPS2 | c.359C>T (p.Ser120Phe) n.458C>T | |
| X | g.21845306T>A | CA515419409 | MBTPS2 | c.360T>A (p.Ser120=) n.459T>A | |
| X | g.21845306T>C | CA515419410 | MBTPS2 | c.360T>C (p.Ser120=) n.459T>C | gnomAD v4 |
| X | g.21845306T>G | CA515419411 | MBTPS2 | c.360T>G (p.Ser120=) n.459T>G | |
| X | g.21845306_21845309delinsTTCC | CA2419080854 | MBTPS2 | c.360_363delinsTTCC (p.Ser120=) n.459_462delinsTTCC | |
| X | g.21845307T>A | CA412561994 | MBTPS2 | c.361T>A (p.Ser121Thr) n.460T>A | |
| X | g.21845307T>C | CA412561995 | MBTPS2 | c.361T>C (p.Ser121Pro) n.460T>C | |
| X | g.21845307T>G | CA412561996 | MBTPS2 | c.361T>G (p.Ser121Ala) n.460T>G | |
| X | g.21845312_21845314del | CA640855396 | MBTPS2 | c.366_368del (p.Ser123del) n.465_467del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845308C>A | CA412561997 | MBTPS2 | c.362C>A (p.Ser121Tyr) n.461C>A | |
| X | g.21845308C>G | CA412561998 | MBTPS2 | c.362C>G (p.Ser121Cys) n.461C>G | |
| X | g.21845308C>T | CA412561999 | MBTPS2 | c.362C>T (p.Ser121Phe) n.461C>T | |
| X | g.21845309C>A | CA515419412 | MBTPS2 | c.363C>A (p.Ser121=) n.462C>A | |
| X | g.21845309C= | CA2419080855 | MBTPS2 | c.363C= (p.Ser121=) n.462C= | |
| X | g.21845309C>G | CA515419413 | MBTPS2 | c.363C>G (p.Ser121=) n.462C>G | gnomAD v4 |
| X | g.21845309C>T | CA515419414 | MBTPS2 | c.363C>T (p.Ser121=) n.462C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.21845310T>A | CA412562000 | MBTPS2 | c.364T>A (p.Ser122Thr) n.463T>A | |
| X | g.21845310T>C | CA412562001 | MBTPS2 | c.364T>C (p.Ser122Pro) n.463T>C | |
| X | g.21845310T>G | CA412562002 | MBTPS2 | c.364T>G (p.Ser122Ala) n.463T>G | |
| X | g.21845318_21845326dup | CA2738474206 | MBTPS2 | c.372_380dup (p.Ser127_Ser128insSerSerSer) n.471_479dup | dbSNP |
| X | g.21845311C>A | CA412562005 | MBTPS2 | c.365C>A (p.Ser122Tyr) n.464C>A | |
| X | g.21845311C= | CA2419080856 | MBTPS2 | c.365C= (p.Ser122=) n.464C= | |
| X | g.21845311C>G | CA412562004 | MBTPS2 | c.365C>G (p.Ser122Cys) n.464C>G | |
| X | g.21845311C>T | CA412562003 | MBTPS2 | c.365C>T (p.Ser122Phe) n.464C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845312C>A | CA515419415 | MBTPS2 | c.366C>A (p.Ser122=) n.465C>A | |
| X | g.21845312C= | CA2419080859 | MBTPS2 | c.366C= (p.Ser122=) n.465C= | |
| X | g.21845312C>G | CA515419416 | MBTPS2 | c.366C>G (p.Ser122=) n.465C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845312C>T | CA515419417 | MBTPS2 | c.366C>T (p.Ser122=) n.465C>T | dbSNP gnomAD v4 |
| X | g.21845312_21845315delinsCTCT | CA2419080858 | MBTPS2 | c.366_369delinsCTCT (p.Ser122=) n.465_468delinsCTCT | |
| X | g.21845312_21845330delinsCTCTTCTTCCTCTTCCTCT | CA2419080857 | MBTPS2 | c.366_384delinsCTCTTCTTCCTCTTCCTCT (p.Ser122=) n.465_483delinsCTCTTCTTCCTCTTCCTCT | |
| X | g.21845312_21845336delinsCTCTTCTTCCTCTTCCTCTTCTTCA | CA2419080860 | MBTPS2 | c.366_390delinsCTCTTCTTCCTCTTCCTCTTCTTCA (p.Ser122=) n.465_489delinsCTCTTCTTCCTCTTCCTCTTCTTCA | |
| X | g.21845313T>A | CA412562006 | MBTPS2 | c.367T>A (p.Ser123Thr) n.466T>A | |
| X | g.21845313T>C | CA412562007 | MBTPS2 | c.367T>C (p.Ser123Pro) n.466T>C | |
| X | g.21845313T>G | CA412562008 | MBTPS2 | c.367T>G (p.Ser123Ala) n.466T>G | |
| X | g.21845318_21845320del | CA640855398 | MBTPS2 | c.372_374del (p.Ser125del) n.471_473del | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845331_21845332insATTCATCTTCTTCCTCTTCCTCTT | CA10367337 | MBTPS2 | c.385_386insATTCATCTTCTTCCTCTTCCTCTT (p.Ser128_Ser129insTyrSerSerSerSerSerSerSer) n.484_485insATTCATCTTCTTCCTCTTCCTCTT | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845318_21845335del | CA640855397 | MBTPS2 | c.372_389del (p.Ser125_Ser130del) n.471_488del | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845330_21845353del | CA10367338 | MBTPS2 | c.384_407del (p.Ser129_Ser136del) n.483_506del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845314C>A | CA412562009 | MBTPS2 | c.368C>A (p.Ser123Tyr) n.467C>A | |
| X | g.21845314C>G | CA412562010 | MBTPS2 | c.368C>G (p.Ser123Cys) n.467C>G | gnomAD v4 |
| X | g.21845314C>T | CA412562011 | MBTPS2 | c.368C>T (p.Ser123Phe) n.467C>T | gnomAD v4 |
| X | g.21845315T>A | CA515419421 | MBTPS2 | c.369T>A (p.Ser123=) n.468T>A | |
| X | g.21845315T>C | CA515419422 | MBTPS2 | c.369T>C (p.Ser123=) n.468T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845315T>G | CA10367339 | MBTPS2 | c.369T>G (p.Ser123=) n.468T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845315T= | CA2419080861 | MBTPS2 | c.369T= (p.Ser123=) n.468T= | |
| X | g.21845315_21845321delinsTTCTTCC | CA2419080862 | MBTPS2 | c.369_375delinsTTCTTCC (p.Ser123=) n.468_474delinsTTCTTCC | |
| X | g.21845316T>A | CA412562012 | MBTPS2 | c.370T>A (p.Ser124Thr) n.469T>A | |
| X | g.21845316T>C | CA412562013 | MBTPS2 | c.370T>C (p.Ser124Pro) n.469T>C | |
| X | g.21845316T>G | CA412562014 | MBTPS2 | c.370T>G (p.Ser124Ala) n.469T>G | |
| X | g.21845327_21845332dup | CA1131573219 | MBTPS2 | c.381_386dup (p.Ser129_Ser130insSerSer) n.480_485dup | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845327_21845332del | CA873902165 | MBTPS2 | c.381_386del (p.Ser128_Ser129del) n.480_485del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845317C>A | CA412562015 | MBTPS2 | c.371C>A (p.Ser124Tyr) n.470C>A | |
| X | g.21845317C>G | CA412562017 | MBTPS2 | c.371C>G (p.Ser124Cys) n.470C>G | COSMIC |
| X | g.21845317C>T | CA412562016 | MBTPS2 | c.371C>T (p.Ser124Phe) n.470C>T | gnomAD v4 |
| X | g.21845318T>A | CA515419425 | MBTPS2 | c.372T>A (p.Ser124=) n.471T>A | dbSNP |
| X | g.21845318T>C | CA515419426 | MBTPS2 | c.372T>C (p.Ser124=) n.471T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845318T>G | CA515419427 | MBTPS2 | c.372T>G (p.Ser124=) n.471T>G | |
| X | g.21845318T= | CA2419080863 | MBTPS2 | c.372T= (p.Ser124=) n.471T= | |
| X | g.21845319T>A | CA412562018 | MBTPS2 | c.373T>A (p.Ser125Thr) n.472T>A | |
| X | g.21845319T>C | CA412562020 | MBTPS2 | c.373T>C (p.Ser125Pro) n.472T>C | |
| X | g.21845319T>G | CA412562019 | MBTPS2 | c.373T>G (p.Ser125Ala) n.472T>G | |
| X | g.21845320C>A | CA412562021 | MBTPS2 | c.374C>A (p.Ser125Tyr) n.473C>A | dbSNP |
| X | g.21845320C= | CA2419080864 | MBTPS2 | c.374C= (p.Ser125=) n.473C= | |
| X | g.21845320C>G | CA412562022 | MBTPS2 | c.374C>G (p.Ser125Cys) n.473C>G | |
| X | g.21845320C>T | CA412562023 | MBTPS2 | c.374C>T (p.Ser125Phe) n.473C>T | |
| X | g.21845321C>A | CA515419432 | MBTPS2 | c.375C>A (p.Ser125=) n.474C>A | |
| X | g.21845321C= | CA2419080865 | MBTPS2 | c.375C= (p.Ser125=) n.474C= | |
| X | g.21845321C>G | CA515419433 | MBTPS2 | c.375C>G (p.Ser125=) n.474C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845321C>T | CA10367340 | MBTPS2 | c.375C>T (p.Ser125=) n.474C>T | dbSNP ExAC gnomAD v2 |
| X | g.21845322T>A | CA412562024 | MBTPS2 | c.376T>A (p.Ser126Thr) n.475T>A | |
| X | g.21845322T>C | CA412562025 | MBTPS2 | c.376T>C (p.Ser126Pro) n.475T>C | |
| X | g.21845322T>G | CA412562026 | MBTPS2 | c.376T>G (p.Ser126Ala) n.475T>G | |
| X | g.21845323C>A | CA412562027 | MBTPS2 | c.377C>A (p.Ser126Tyr) n.476C>A | |
| X | g.21845323C>G | CA412562028 | MBTPS2 | c.377C>G (p.Ser126Cys) n.476C>G | |
| X | g.21845323C>T | CA412562029 | MBTPS2 | c.377C>T (p.Ser126Phe) n.476C>T | COSMIC COSMIC |
| X | g.21845324T>A | CA515419438 | MBTPS2 | c.378T>A (p.Ser126=) n.477T>A | |
| X | g.21845324T>C | CA515419436 | MBTPS2 | c.378T>C (p.Ser126=) n.477T>C | |
| X | g.21845324T>G | CA515419437 | MBTPS2 | c.378T>G (p.Ser126=) n.477T>G | |
| X | g.21845325T>A | CA412562030 | MBTPS2 | c.379T>A (p.Ser127Thr) n.478T>A | |
| X | g.21845325T>C | CA412562031 | MBTPS2 | c.379T>C (p.Ser127Pro) n.478T>C | |
| X | g.21845325T>G | CA412562032 | MBTPS2 | c.379T>G (p.Ser127Ala) n.478T>G | |
| X | g.21845327_21845329dup | CA2693295765 | MBTPS2 | c.381_383dup (p.Ser128_Ser129insSer) n.480_482dup | gnomAD v4 |
| X | g.21845326C>A | CA412562033 | MBTPS2 | c.380C>A (p.Ser127Tyr) n.479C>A | |
| X | g.21845326C= | CA2419080866 | MBTPS2 | c.380C= (p.Ser127=) n.479C= | |
| X | g.21845326C>G | CA412562034 | MBTPS2 | c.380C>G (p.Ser127Cys) n.479C>G | |
| X | g.21845326C>T | CA10367341 | MBTPS2 | c.380C>T (p.Ser127Phe) n.479C>T | dbSNP ExAC gnomAD v2 |
| X | g.21845327C>A | CA515419443 | MBTPS2 | c.381C>A (p.Ser127=) n.480C>A | |
| X | g.21845327C= | CA2419080868 | MBTPS2 | c.381C= (p.Ser127=) n.480C= | |
| X | g.21845327C>G | CA515419441 | MBTPS2 | c.381C>G (p.Ser127=) n.480C>G | gnomAD v4 |
| X | g.21845327C>T | CA10367342 | MBTPS2 | c.381C>T (p.Ser127=) n.480C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.21845327_21845333delinsCTCTTCT | CA2419080867 | MBTPS2 | c.381_387delinsCTCTTCT (p.Ser127=) n.480_486delinsCTCTTCT | |
| X | g.21845328T>A | CA412562035 | MBTPS2 | c.382T>A (p.Ser128Thr) n.481T>A | |
| X | g.21845328T>C | CA412562036 | MBTPS2 | c.382T>C (p.Ser128Pro) n.481T>C | dbSNP gnomAD v4 |
| X | g.21845328T>G | CA412562037 | MBTPS2 | c.382T>G (p.Ser128Ala) n.481T>G | |
| X | g.21845328T= | CA2419080869 | MBTPS2 | c.382T= (p.Ser128=) n.481T= | |
| X | g.21845329_21845330insCTCTTC | CA2579570802 | MBTPS2 | c.383_384insCTCTTC (p.Ser128_Ser129insSerSer) n.482_483insCTCTTC | |
| X | g.21845333_21845335del | CA10367343 | MBTPS2 | c.387_389del (p.Ser130del) n.486_488del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845330_21845335del | CA10367344 | MBTPS2 | c.384_389del (p.Ser129_Ser130del) n.483_488del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845336_21845344del | CA2579570803 | MBTPS2 | c.390_398del (p.Ser131_Ser133del) n.489_497del | |
| X | g.21845329C>A | CA412562038 | MBTPS2 | c.383C>A (p.Ser128Tyr) n.482C>A | |
| X | g.21845329C>G | CA412562039 | MBTPS2 | c.383C>G (p.Ser128Cys) n.482C>G | |
| X | g.21845329C>T | CA412562040 | MBTPS2 | c.383C>T (p.Ser128Phe) n.482C>T | |
| X | g.21845330T>A | CA515419446 | MBTPS2 | c.384T>A (p.Ser128=) n.483T>A | |
| X | g.21845330T>C | CA10367345 | MBTPS2 | c.384T>C (p.Ser128=) n.483T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845330T>G | CA515419447 | MBTPS2 | c.384T>G (p.Ser128=) n.483T>G | |
| X | g.21845330T= | CA2419080870 | MBTPS2 | c.384T= (p.Ser128=) n.483T= | |
| X | g.21845331T>A | CA412562043 | MBTPS2 | c.385T>A (p.Ser129Thr) n.484T>A | |
| X | g.21845331T>C | CA412562041 | MBTPS2 | c.385T>C (p.Ser129Pro) n.484T>C | |
| X | g.21845331T>G | CA412562042 | MBTPS2 | c.385T>G (p.Ser129Ala) n.484T>G | |
| X | g.21845332C>A | CA412562044 | MBTPS2 | c.386C>A (p.Ser129Tyr) n.485C>A | dbSNP |
| X | g.21845332C= | CA2419080871 | MBTPS2 | c.386C= (p.Ser129=) n.485C= | |
| X | g.21845332C>G | CA412562045 | MBTPS2 | c.386C>G (p.Ser129Cys) n.485C>G | |
| X | g.21845332C>T | CA412562046 | MBTPS2 | c.386C>T (p.Ser129Phe) n.485C>T | gnomAD v4 |
| X | g.21845333T>A | CA515419449 | MBTPS2 | c.387T>A (p.Ser129=) n.486T>A | |
| X | g.21845333T>C | CA515419450 | MBTPS2 | c.387T>C (p.Ser129=) n.486T>C | gnomAD v4 |
| X | g.21845333T>G | CA515419451 | MBTPS2 | c.387T>G (p.Ser129=) n.486T>G | gnomAD v4 |
| X | g.21845333_21845336delinsTTCA | CA2419080872 | MBTPS2 | c.387_390delinsTTCA (p.Ser129=) n.486_489delinsTTCA | |
| X | g.21845334T>A | CA412562047 | MBTPS2 | c.388T>A (p.Ser130Thr) n.487T>A | |
| X | g.21845334T>C | CA412562048 | MBTPS2 | c.388T>C (p.Ser130Pro) n.487T>C | |
| X | g.21845334T>G | CA412562049 | MBTPS2 | c.388T>G (p.Ser130Ala) n.487T>G | |
| X | g.21845336_21845338del | CA10367346 | MBTPS2 | c.390_392del (p.Ser131del) n.489_491del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845335C>A | CA412562050 | MBTPS2 | c.389C>A (p.Ser130Ter) n.488C>A | |
| X | g.21845335C>G | CA412562051 | MBTPS2 | c.389C>G (p.Ser130Ter) n.488C>G | |
| X | g.21845335C>T | CA412562052 | MBTPS2 | c.389C>T (p.Ser130Leu) n.488C>T | |
| X | g.21845336A= | CA2419080873 | MBTPS2 | c.390A= (p.Ser130=) n.489A= | |
| X | g.21845336A>C | CA515419453 | MBTPS2 | c.390A>C (p.Ser130=) n.489A>C | dbSNP |
| X | g.21845336A>G | CA515419454 | MBTPS2 | c.390A>G (p.Ser130=) n.489A>G | |
| X | g.21845336A>T | CA515419455 | MBTPS2 | c.390A>T (p.Ser130=) n.489A>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845336_21845339delinsATCT | CA2419080874 | MBTPS2 | c.390_393delinsATCT (p.Ser130=) n.489_492delinsATCT | |
| X | g.21845337T>A | CA412562055 | MBTPS2 | c.391T>A (p.Ser131Thr) n.490T>A | |
| X | g.21845337T>C | CA412562054 | MBTPS2 | c.391T>C (p.Ser131Pro) n.490T>C | |
| X | g.21845337T>G | CA412562053 | MBTPS2 | c.391T>G (p.Ser131Ala) n.490T>G | |
| X | g.21845342_21845344del | CA640855399 | MBTPS2 | c.396_398del (p.Ser133del) n.495_497del | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845338C>A | CA412562056 | MBTPS2 | c.392C>A (p.Ser131Tyr) n.491C>A | |
| X | g.21845338C>G | CA412562057 | MBTPS2 | c.392C>G (p.Ser131Cys) n.491C>G | |
| X | g.21845338C>T | CA412562058 | MBTPS2 | c.392C>T (p.Ser131Phe) n.491C>T | |
| X | g.21845339T>A | CA515419459 | MBTPS2 | c.393T>A (p.Ser131=) n.492T>A | COSMIC COSMIC |
| X | g.21845339T>C | CA515419458 | MBTPS2 | c.393T>C (p.Ser131=) n.492T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845339T>G | CA515419457 | MBTPS2 | c.393T>G (p.Ser131=) n.492T>G | |
| X | g.21845339T= | CA2419080876 | MBTPS2 | c.393T= (p.Ser131=) n.492T= | |
| X | g.21845339_21845345delinsTTCTTCC | CA2419080875 | MBTPS2 | c.393_399delinsTTCTTCC (p.Ser131=) n.492_498delinsTTCTTCC | |
| X | g.21845340T>A | CA412562059 | MBTPS2 | c.394T>A (p.Ser132Thr) n.493T>A | |
| X | g.21845340T>C | CA412562060 | MBTPS2 | c.394T>C (p.Ser132Pro) n.493T>C | |
| X | g.21845340T>G | CA412562061 | MBTPS2 | c.394T>G (p.Ser132Ala) n.493T>G | |
| X | g.21845348_21845353del | CA10367347 | MBTPS2 | c.402_407del (p.Ser135_Ser136del) n.501_506del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845341C>A | CA412562062 | MBTPS2 | c.395C>A (p.Ser132Tyr) n.494C>A | |
| X | g.21845341C>G | CA412562063 | MBTPS2 | c.395C>G (p.Ser132Cys) n.494C>G | |
| X | g.21845341C>T | CA412562064 | MBTPS2 | c.395C>T (p.Ser132Phe) n.494C>T | |
| X | g.21845342T>A | CA515419464 | MBTPS2 | c.396T>A (p.Ser132=) n.495T>A | dbSNP |
| X | g.21845342T>C | CA515419465 | MBTPS2 | c.396T>C (p.Ser132=) n.495T>C | gnomAD v4 |
| X | g.21845342T>G | CA515419466 | MBTPS2 | c.396T>G (p.Ser132=) n.495T>G | |
| X | g.21845342T= | CA2419080877 | MBTPS2 | c.396T= (p.Ser132=) n.495T= | |
| X | g.21845343T>A | CA412562065 | MBTPS2 | c.397T>A (p.Ser133Thr) n.496T>A | |
| X | g.21845343T>C | CA412562066 | MBTPS2 | c.397T>C (p.Ser133Pro) n.496T>C | |
| X | g.21845343T>G | CA412562067 | MBTPS2 | c.397T>G (p.Ser133Ala) n.496T>G | |
| X | g.21845344C>A | CA412562069 | MBTPS2 | c.398C>A (p.Ser133Tyr) n.497C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845344C= | CA2419080878 | MBTPS2 | c.398C= (p.Ser133=) n.497C= | |
| X | g.21845344C>G | CA412562070 | MBTPS2 | c.398C>G (p.Ser133Cys) n.497C>G | |
| X | g.21845344C>T | CA412562068 | MBTPS2 | c.398C>T (p.Ser133Phe) n.497C>T | |
| X | g.21845345C>A | CA515419471 | MBTPS2 | c.399C>A (p.Ser133=) n.498C>A | |
| X | g.21845345C>G | CA515419472 | MBTPS2 | c.399C>G (p.Ser133=) n.498C>G | |
| X | g.21845345C>T | CA515419473 | MBTPS2 | c.399C>T (p.Ser133=) n.498C>T | |
| X | g.21845346T>A | CA412562072 | MBTPS2 | c.400T>A (p.Ser134Thr) n.499T>A | |
| X | g.21845346T>C | CA412562071 | MBTPS2 | c.400T>C (p.Ser134Pro) n.499T>C | gnomAD v4 |
| X | g.21845346T>G | CA412562073 | MBTPS2 | c.400T>G (p.Ser134Ala) n.499T>G | |
| X | g.21845347C>A | CA412562074 | MBTPS2 | c.401C>A (p.Ser134Tyr) n.500C>A | |
| X | g.21845347C= | CA2419080879 | MBTPS2 | c.401C= (p.Ser134=) n.500C= | |
| X | g.21845347C>G | CA412562076 | MBTPS2 | c.401C>G (p.Ser134Cys) n.500C>G | |
| X | g.21845347C>T | CA412562075 | MBTPS2 | c.401C>T (p.Ser134Phe) n.500C>T | dbSNP gnomAD v4 |
| X | g.21845348T>A | CA515419477 | MBTPS2 | c.402T>A (p.Ser134=) n.501T>A | |
| X | g.21845348T>C | CA515419478 | MBTPS2 | c.402T>C (p.Ser134=) n.501T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845348T>G | CA515419479 | MBTPS2 | c.402T>G (p.Ser134=) n.501T>G | gnomAD v4 |
| X | g.21845348T= | CA2419080880 | MBTPS2 | c.402T= (p.Ser134=) n.501T= | |
| X | g.21845349T>A | CA412562077 | MBTPS2 | c.403T>A (p.Ser135Thr) n.502T>A | |
| X | g.21845349T>C | CA412562078 | MBTPS2 | c.403T>C (p.Ser135Pro) n.502T>C | |
| X | g.21845349T>G | CA412562079 | MBTPS2 | c.403T>G (p.Ser135Ala) n.502T>G | |
| X | g.21845351_21845353del | CA2580100458 | MBTPS2 | c.405_407del (p.Ser136del) n.504_506del | ClinVar gnomAD v4 |
| X | g.21845350C>A | CA412562080 | MBTPS2 | c.404C>A (p.Ser135Tyr) n.503C>A | |
| X | g.21845350C= | CA2419080881 | MBTPS2 | c.404C= (p.Ser135=) n.503C= | |
| X | g.21845350C>G | CA412562081 | MBTPS2 | c.404C>G (p.Ser135Cys) n.503C>G | |
| X | g.21845350C>T | CA412562082 | MBTPS2 | c.404C>T (p.Ser135Phe) n.503C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845351C>A | CA515419480 | MBTPS2 | c.405C>A (p.Ser135=) n.504C>A | |
| X | g.21845351C>G | CA515419481 | MBTPS2 | c.405C>G (p.Ser135=) n.504C>G | |
| X | g.21845351C>T | CA515419482 | MBTPS2 | c.405C>T (p.Ser135=) n.504C>T | gnomAD v4 |
| X | g.21845352T>A | CA412562083 | MBTPS2 | c.406T>A (p.Ser136Thr) n.505T>A | |
| X | g.21845352T>C | CA412562084 | MBTPS2 | c.406T>C (p.Ser136Pro) n.505T>C | |
| X | g.21845352T>G | CA412562085 | MBTPS2 | c.406T>G (p.Ser136Ala) n.505T>G | |
| X | g.21845353C>A | CA412562086 | MBTPS2 | c.407C>A (p.Ser136Ter) n.506C>A | |
| X | g.21845353C= | CA2419080882 | MBTPS2 | c.407C= (p.Ser136=) n.506C= | |
| X | g.21845353C>G | CA412562087 | MBTPS2 | c.407C>G (p.Ser136Trp) n.506C>G | gnomAD v4 |
| X | g.21845353C>T | CA10367348 | MBTPS2 | c.407C>T (p.Ser136Leu) n.506C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845354G>A | CA10367349 | MBTPS2 | c.408G>A (p.Ser136=) n.507G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845354G>C | CA515419484 | MBTPS2 | c.408G>C (p.Ser136=) n.507G>C | |
| X | g.21845354G= | CA2419080883 | MBTPS2 | c.408G= (p.Ser136=) n.507G= | |
| X | g.21845354G>T | CA515419485 | MBTPS2 | c.408G>T (p.Ser136=) n.507G>T | |
| X | g.21845355C>A | CA412562088 | MBTPS2 | c.409C>A (p.Leu137Ile) n.508C>A | |
| X | g.21845355C>G | CA412562089 | MBTPS2 | c.409C>G (p.Leu137Val) n.508C>G | |
| X | g.21845355C>T | CA412562090 | MBTPS2 | c.409C>T (p.Leu137Phe) n.508C>T | |
| X | g.21845356T>A | CA412562091 | MBTPS2 | c.410T>A (p.Leu137His) n.509T>A | |
| X | g.21845356T>C | CA412562092 | MBTPS2 | c.410T>C (p.Leu137Pro) n.509T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845356T>G | CA412562093 | MBTPS2 | c.410T>G (p.Leu137Arg) n.509T>G | |
| X | g.21845356T= | CA2419080884 | MBTPS2 | c.410T= (p.Leu137=) n.509T= | |
| X | g.21845357T>A | CA515419487 | MBTPS2 | c.411T>A (p.Leu137=) n.510T>A | |
| X | g.21845357T>C | CA515419488 | MBTPS2 | c.411T>C (p.Leu137=) n.510T>C | dbSNP gnomAD v2 |
| X | g.21845357T>G | CA515419489 | MBTPS2 | c.411T>G (p.Leu137=) n.510T>G | |
| X | g.21845357T= | CA2419080885 | MBTPS2 | c.411T= (p.Leu137=) n.510T= | |
| X | g.21845358C>A | CA412562094 | MBTPS2 | c.412C>A (p.His138Asn) n.511C>A | |
| X | g.21845358C>G | CA412562095 | MBTPS2 | c.412C>G (p.His138Asp) n.511C>G | |
| X | g.21845358C>T | CA412562096 | MBTPS2 | c.412C>T (p.His138Tyr) n.511C>T | |
| X | g.21845359A>C | CA412562097 | MBTPS2 | c.413A>C (p.His138Pro) n.512A>C | |
| X | g.21845359A>G | CA412562098 | MBTPS2 | c.413A>G (p.His138Arg) n.512A>G | |
| X | g.21845359A>T | CA412562099 | MBTPS2 | c.413A>T (p.His138Leu) n.512A>T | |
| X | g.21845360C>A | CA412562100 | MBTPS2 | c.414C>A (p.His138Gln) n.513C>A | |
| X | g.21845360C>G | CA412562101 | MBTPS2 | c.414C>G (p.His138Gln) n.513C>G | |
| X | g.21845360C>T | CA515419493 | MBTPS2 | c.414C>T (p.His138=) n.513C>T | |
| X | g.21845361A>C | CA412562104 | MBTPS2 | c.415A>C (p.Asn139His) n.514A>C | |
| X | g.21845361A>G | CA412562102 | MBTPS2 | c.415A>G (p.Asn139Asp) n.514A>G | |
| X | g.21845361A>T | CA412562103 | MBTPS2 | c.415A>T (p.Asn139Tyr) n.514A>T | |
| X | g.21845362A= | CA2419080886 | MBTPS2 | c.416A= (p.Asn139=) n.515A= | |
| X | g.21845362A>C | CA412562105 | MBTPS2 | c.416A>C (p.Asn139Thr) n.515A>C | dbSNP gnomAD v2 |
| X | g.21845362A>G | CA412562106 | MBTPS2 | c.416A>G (p.Asn139Ser) n.515A>G | ClinVar dbSNP gnomAD v4 |
| X | g.21845362A>T | CA412562107 | MBTPS2 | c.416A>T (p.Asn139Ile) n.515A>T | |
| X | g.21845363T>A | CA412562108 | MBTPS2 | c.417T>A (p.Asn139Lys) n.516T>A | |
| X | g.21845363T>C | CA515419497 | MBTPS2 | c.417T>C (p.Asn139=) n.516T>C | gnomAD v4 |
| X | g.21845363T>G | CA327502254 | MBTPS2 | c.417T>G (p.Asn139Lys) n.516T>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845363T= | CA2419080887 | MBTPS2 | c.417T= (p.Asn139=) n.516T= | |
| X | g.21845364G>A | CA412562109 | MBTPS2 | c.418G>A (p.Glu140Lys) n.517G>A | |
| X | g.21845364G>C | CA412562110 | MBTPS2 | c.418G>C (p.Glu140Gln) n.517G>C | COSMIC COSMIC |
| X | g.21845364G>T | CA412562111 | MBTPS2 | c.418G>T (p.Glu140Ter) n.517G>T | |
| X | g.21845365A>C | CA412562112 | MBTPS2 | c.419A>C (p.Glu140Ala) n.518A>C | |
| X | g.21845365A>G | CA412562113 | MBTPS2 | c.419A>G (p.Glu140Gly) n.518A>G | |
| X | g.21845365A>T | CA412562114 | MBTPS2 | c.419A>T (p.Glu140Val) n.518A>T | |
| X | g.21845366A>C | CA412562115 | MBTPS2 | c.420A>C (p.Glu140Asp) n.519A>C | |
| X | g.21845366A>G | CA515419499 | MBTPS2 | c.420A>G (p.Glu140=) n.519A>G | |
| X | g.21845366A>T | CA412562116 | MBTPS2 | c.420A>T (p.Glu140Asp) n.519A>T | |
| X | g.21845367C>A | CA412562119 | MBTPS2 | c.421C>A (p.Gln141Lys) n.520C>A | |
| X | g.21845367C>G | CA412562118 | MBTPS2 | c.421C>G (p.Gln141Glu) n.520C>G | |
| X | g.21845367C>T | CA412562117 | MBTPS2 | c.421C>T (p.Gln141Ter) n.520C>T | |
| X | g.21845368A>C | CA412562120 | MBTPS2 | c.422A>C (p.Gln141Pro) n.521A>C | |
| X | g.21845368A>G | CA412562121 | MBTPS2 | c.422A>G (p.Gln141Arg) n.521A>G | |
| X | g.21845368A>T | CA412562122 | MBTPS2 | c.422A>T (p.Gln141Leu) n.521A>T | |
| X | g.21845369G>A | CA515419502 | MBTPS2 | c.423G>A (p.Gln141=) n.522G>A | |
| X | g.21845369G>C | CA412562123 | MBTPS2 | c.423G>C (p.Gln141His) n.522G>C | |
| X | g.21845369G>T | CA412562124 | MBTPS2 | c.423G>T (p.Gln141His) n.522G>T | |
| X | g.21845370G>A | CA412562125 | MBTPS2 | c.424G>A (p.Val142Met) n.523G>A | gnomAD v4 |
| X | g.21845370G>C | CA412562126 | MBTPS2 | c.424G>C (p.Val142Leu) n.523G>C | |
| X | g.21845370G>T | CA412562127 | MBTPS2 | c.424G>T (p.Val142Leu) n.523G>T | |
| X | g.21845371T>A | CA412562128 | MBTPS2 | c.425T>A (p.Val142Glu) n.524T>A | |
| X | g.21845371T>C | CA10367350 | MBTPS2 | c.425T>C (p.Val142Ala) n.524T>C | dbSNP ExAC gnomAD v2 |
| X | g.21845371T>G | CA412562129 | MBTPS2 | c.425T>G (p.Val142Gly) n.524T>G | |
| X | g.21845371T= | CA2419080888 | MBTPS2 | c.425T= (p.Val142=) n.524T= | |
| X | g.21845372G>A | CA515419506 | MBTPS2 | c.426G>A (p.Val142=) n.525G>A | gnomAD v4 |
| X | g.21845372G>C | CA515419508 | MBTPS2 | c.426G>C (p.Val142=) n.525G>C | |
| X | g.21845372G>T | CA515419507 | MBTPS2 | c.426G>T (p.Val142=) n.525G>T | |
| X | g.21845373T>A | CA412562130 | MBTPS2 | c.427T>A (p.Leu143Ile) n.526T>A | |
| X | g.21845373T>C | CA515419512 | MBTPS2 | c.427T>C (p.Leu143=) n.526T>C | |
| X | g.21845373T>G | CA412562131 | MBTPS2 | c.427T>G (p.Leu143Val) n.526T>G | |
| X | g.21845374T>A | CA412562133 | MBTPS2 | c.428T>A (p.Leu143Ter) n.527T>A | |
| X | g.21845374T>C | CA412562134 | MBTPS2 | c.428T>C (p.Leu143Ser) n.527T>C | |
| X | g.21845374T>G | CA412562132 | MBTPS2 | c.428T>G (p.Leu143Ter) n.527T>G | |
| X | g.21845375A>C | CA412562135 | MBTPS2 | c.429A>C (p.Leu143Phe) n.528A>C | |
| X | g.21845375A>G | CA515419514 | MBTPS2 | c.429A>G (p.Leu143=) n.528A>G | |
| X | g.21845375A>T | CA412562136 | MBTPS2 | c.429A>T (p.Leu143Phe) n.528A>T |