UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.63072983_63072991delinsGGACTCCAT | CA1788938328 | TTPA | c.302_310delinsATGGAGTCC (p.His101=) n.232+12827_232+12835delinsATGGAGTCC c.205-8675_205-8667delinsATGGAGTCC (n.205-8675_205-8667delinsATGGAGTCC) | |
| 8 | g.63072985_63072992del | CA1788938329 | TTPA | c.302_309del (p.His101ProfsTer28) n.232+12827_232+12834del c.205-8675_205-8668del (n.205-8675_205-8668del) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63072990A= | CA1788938331 | TTPA | c.303T= (p.His101=) n.232+12828T= c.205-8674T= (n.205-8674T=) | |
| 8 | g.63072990A>C | CA120135 | TTPA | c.303T>G (p.His101Gln) n.232+12828T>G c.205-8674T>G (n.205-8674T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63072990A>G | CA461144496 | TTPA | c.303T>C (p.His101=) n.232+12828T>C c.205-8674T>C (n.205-8674T>C) | gnomAD v4 |
| 8 | g.63072990A>T | CA371333762 | TTPA | c.303T>A (p.His101Gln) n.232+12828T>A c.205-8674T>A (n.205-8674T>A) | |
| 8 | g.63072991T>A | CA371333765 | TTPA | c.302A>T (p.His101Leu) n.232+12827A>T c.205-8675A>T (n.205-8675A>T) | |
| 8 | g.63072991T>C | CA371333763 | TTPA | c.302A>G (p.His101Arg) n.232+12827A>G c.205-8675A>G (n.205-8675A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63072991T>G | CA371333764 | TTPA | c.302A>C (p.His101Pro) n.232+12827A>C c.205-8675A>C (n.205-8675A>C) | |
| 8 | g.63072991T= | CA1788938332 | TTPA | c.302A= (p.His101=) n.232+12827A= c.205-8675A= (n.205-8675A=) | |
| 8 | g.63072992G>A | CA371333766 | TTPA | c.301C>T (p.His101Tyr) n.232+12826C>T c.205-8676C>T (n.205-8676C>T) | |
| 8 | g.63072992G>C | CA371333767 | TTPA | c.301C>G (p.His101Asp) n.232+12826C>G c.205-8676C>G (n.205-8676C>G) | |
| 8 | g.63072992G>T | CA371333768 | TTPA | c.301C>A (p.His101Asn) n.232+12826C>A c.205-8676C>A (n.205-8676C>A) | |
| 8 | g.63072993G>A | CA461144497 | TTPA | c.300C>T (p.Tyr100=) n.232+12825C>T c.205-8677C>T (n.205-8677C>T) | gnomAD v4 COSMIC |
| 8 | g.63072993G>C | CA371333769 | TTPA | c.300C>G (p.Tyr100Ter) n.232+12825C>G c.205-8677C>G (n.205-8677C>G) | |
| 8 | g.63072993G>T | CA371333770 | TTPA | c.300C>A (p.Tyr100Ter) n.232+12825C>A c.205-8677C>A (n.205-8677C>A) | ClinVar dbSNP |
| 8 | g.63072994T>A | CA371333771 | TTPA | c.299A>T (p.Tyr100Phe) n.232+12824A>T c.205-8678A>T (n.205-8678A>T) | |
| 8 | g.63072994T>C | CA371333772 | TTPA | c.299A>G (p.Tyr100Cys) n.232+12824A>G c.205-8678A>G (n.205-8678A>G) | dbSNP gnomAD v4 |
| 8 | g.63072994T>G | CA371333773 | TTPA | c.299A>C (p.Tyr100Ser) n.232+12824A>C c.205-8678A>C (n.205-8678A>C) | gnomAD v4 |
| 8 | g.63072995A>C | CA371333774 | TTPA | c.298T>G (p.Tyr100Asp) n.232+12823T>G c.205-8679T>G (n.205-8679T>G) | |
| 8 | g.63072995A>G | CA371333775 | TTPA | c.298T>C (p.Tyr100His) n.232+12823T>C c.205-8679T>C (n.205-8679T>C) | |
| 8 | g.63072995A>T | CA371333776 | TTPA | c.298T>A (p.Tyr100Asn) n.232+12823T>A c.205-8679T>A (n.205-8679T>A) | |
| 8 | g.63072996G>A | CA461144498 | TTPA | c.297C>T (p.Gly99=) n.232+12822C>T c.205-8680C>T (n.205-8680C>T) | |
| 8 | g.63072996G>C | CA461144500 | TTPA | c.297C>G (p.Gly99=) n.232+12822C>G c.205-8680C>G (n.205-8680C>G) | |
| 8 | g.63072996G>T | CA461144499 | TTPA | c.297C>A (p.Gly99=) n.232+12822C>A c.205-8680C>A (n.205-8680C>A) | gnomAD v4 |
| 8 | g.63072997C>A | CA371333779 | TTPA | c.296G>T (p.Gly99Val) n.232+12821G>T c.205-8681G>T (n.205-8681G>T) | gnomAD v4 |
| 8 | g.63072997C>G | CA371333778 | TTPA | c.296G>C (p.Gly99Ala) n.232+12821G>C c.205-8681G>C (n.205-8681G>C) | |
| 8 | g.63072997C>T | CA371333777 | TTPA | c.296G>A (p.Gly99Asp) n.232+12821G>A c.205-8681G>A (n.205-8681G>A) | gnomAD v4 |
| 8 | g.63072998C>A | CA371333780 | TTPA | c.295G>T (p.Gly99Cys) n.232+12820G>T c.205-8682G>T (n.205-8682G>T) | |
| 8 | g.63072998C= | CA1788938333 | TTPA | c.295G= (p.Gly99=) n.232+12820G= c.205-8682G= (n.205-8682G=) | |
| 8 | g.63072998C>G | CA371333781 | TTPA | c.295G>C (p.Gly99Arg) n.232+12820G>C c.205-8682G>C (n.205-8682G>C) | |
| 8 | g.63072998C>T | CA4763282 | TTPA | c.295G>A (p.Gly99Ser) n.232+12820G>A c.205-8682G>A (n.205-8682G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63072999A>C | CA461144501 | TTPA | c.294T>G (p.Ala98=) n.232+12819T>G c.205-8683T>G (n.205-8683T>G) | ClinVar |
| 8 | g.63072999A>G | CA461144502 | TTPA | c.294T>C (p.Ala98=) n.232+12819T>C c.205-8683T>C (n.205-8683T>C) | ClinVar dbSNP |
| 8 | g.63072999A>T | CA461144503 | TTPA | c.294T>A (p.Ala98=) n.232+12819T>A c.205-8683T>A (n.205-8683T>A) | |
| 8 | g.63073000G>A | CA371333782 | TTPA | c.293C>T (p.Ala98Val) n.232+12818C>T c.205-8684C>T (n.205-8684C>T) | |
| 8 | g.63073000G>C | CA371333783 | TTPA | c.293C>G (p.Ala98Gly) n.232+12818C>G c.205-8684C>G (n.205-8684C>G) | |
| 8 | g.63073000G>T | CA371333784 | TTPA | c.293C>A (p.Ala98Asp) n.232+12818C>A c.205-8684C>A (n.205-8684C>A) | |
| 8 | g.63073000_63073003delinsGCCT | CA1788938334 | TTPA | c.290_293delinsAGGC (p.Lys97=) n.232+12815_232+12818delinsAGGC c.205-8687_205-8684delinsAGGC (n.205-8687_205-8684delinsAGGC) | |
| 8 | g.63073001C>A | CA371333786 | TTPA | c.292G>T (p.Ala98Ser) n.232+12817G>T c.205-8685G>T (n.205-8685G>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63073001C= | CA1788938335 | TTPA | c.292G= (p.Ala98=) n.232+12817G= c.205-8685G= (n.205-8685G=) | |
| 8 | g.63073001C>G | CA4763283 | TTPA | c.292G>C (p.Ala98Pro) n.232+12817G>C c.205-8685G>C (n.205-8685G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073001C>T | CA371333785 | TTPA | c.292G>A (p.Ala98Thr) n.232+12817G>A c.205-8685G>A (n.205-8685G>A) | |
| 8 | g.63073002del | CA2739268809 | TTPA | c.292del (p.Ala98LeufsTer7) n.232+12817del c.205-8685del (n.205-8685del) | ClinVar |
| 8 | g.63073001_63073003del | CA581998954 | TTPA | c.290_292del (p.Lys97_Ala98delinsThr) n.232+12815_232+12817del c.205-8687_205-8685del (n.205-8687_205-8685del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073002C>A | CA178387659 | TTPA | c.291G>T (p.Lys97Asn) n.232+12816G>T c.205-8686G>T (n.205-8686G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.63073002C= | CA1788938336 | TTPA | c.291G= (p.Lys97=) n.232+12816G= c.205-8686G= (n.205-8686G=) | |
| 8 | g.63073002C>G | CA371333787 | TTPA | c.291G>C (p.Lys97Asn) n.232+12816G>C c.205-8686G>C (n.205-8686G>C) | |
| 8 | g.63073002C>T | CA461144504 | TTPA | c.291G>A (p.Lys97=) n.232+12816G>A c.205-8686G>A (n.205-8686G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073003T>A | CA371333788 | TTPA | c.290A>T (p.Lys97Met) n.232+12815A>T c.205-8687A>T (n.205-8687A>T) | |
| 8 | g.63073003T>C | CA371333789 | TTPA | c.290A>G (p.Lys97Arg) n.232+12815A>G c.205-8687A>G (n.205-8687A>G) | |
| 8 | g.63073003T>G | CA371333790 | TTPA | c.290A>C (p.Lys97Thr) n.232+12815A>C c.205-8687A>C (n.205-8687A>C) | |
| 8 | g.63073005del | CA2573143305 | TTPA | c.290del (p.Lys97ArgfsTer8) n.232+12815del c.205-8687del (n.205-8687del) | ClinVar dbSNP |
| 8 | g.63073004T>A | CA371333791 | TTPA | c.289A>T (p.Lys97Ter) n.232+12814A>T c.205-8688A>T (n.205-8688A>T) | |
| 8 | g.63073004T>C | CA371333793 | TTPA | c.289A>G (p.Lys97Glu) n.232+12814A>G c.205-8688A>G (n.205-8688A>G) | |
| 8 | g.63073004T>G | CA371333792 | TTPA | c.289A>C (p.Lys97Gln) n.232+12814A>C c.205-8688A>C (n.205-8688A>C) | |
| 8 | g.63073005T>A | CA461144507 | TTPA | c.288A>T (p.Leu96=) n.232+12813A>T c.205-8689A>T (n.205-8689A>T) | |
| 8 | g.63073005T>C | CA461144506 | TTPA | c.288A>G (p.Leu96=) n.232+12813A>G c.205-8689A>G (n.205-8689A>G) | |
| 8 | g.63073005T>G | CA461144505 | TTPA | c.288A>C (p.Leu96=) n.232+12813A>C c.205-8689A>C (n.205-8689A>C) | |
| 8 | g.63073006A>C | CA371333794 | TTPA | c.287T>G (p.Leu96Arg) n.232+12812T>G c.205-8690T>G (n.205-8690T>G) | |
| 8 | g.63073006A>G | CA371333795 | TTPA | c.287T>C (p.Leu96Pro) n.232+12812T>C c.205-8690T>C (n.205-8690T>C) | |
| 8 | g.63073006A>T | CA371333796 | TTPA | c.287T>A (p.Leu96Gln) n.232+12812T>A c.205-8690T>A (n.205-8690T>A) | |
| 8 | g.63073007G>A | CA461144508 | TTPA | c.286C>T (p.Leu96=) n.232+12811C>T c.205-8691C>T (n.205-8691C>T) | |
| 8 | g.63073007G>C | CA371333797 | TTPA | c.286C>G (p.Leu96Val) n.232+12811C>G c.205-8691C>G (n.205-8691C>G) | |
| 8 | g.63073007G>T | CA371333798 | TTPA | c.286C>A (p.Leu96Ile) n.232+12811C>A c.205-8691C>A (n.205-8691C>A) | |
| 8 | g.63073008G>A | CA461144509 | TTPA | c.285C>T (p.Leu95=) n.232+12810C>T c.205-8692C>T (n.205-8692C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.63073008G>C | CA461144510 | TTPA | c.285C>G (p.Leu95=) n.232+12810C>G c.205-8692C>G (n.205-8692C>G) | |
| 8 | g.63073008G= | CA1788938337 | TTPA | c.285C= (p.Leu95=) n.232+12810C= c.205-8692C= (n.205-8692C=) | |
| 8 | g.63073008G>T | CA461144511 | TTPA | c.285C>A (p.Leu95=) n.232+12810C>A c.205-8692C>A (n.205-8692C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073009A>C | CA371333799 | TTPA | c.284T>G (p.Leu95Arg) n.232+12809T>G c.205-8693T>G (n.205-8693T>G) | |
| 8 | g.63073009A>G | CA371333800 | TTPA | c.284T>C (p.Leu95Pro) n.232+12809T>C c.205-8693T>C (n.205-8693T>C) | |
| 8 | g.63073009A>T | CA371333801 | TTPA | c.284T>A (p.Leu95His) n.232+12809T>A c.205-8693T>A (n.205-8693T>A) | |
| 8 | g.63073010G>A | CA371333802 | TTPA | c.283C>T (p.Leu95Phe) n.232+12808C>T c.205-8694C>T (n.205-8694C>T) | |
| 8 | g.63073010G>C | CA371333803 | TTPA | c.283C>G (p.Leu95Val) n.232+12808C>G c.205-8694C>G (n.205-8694C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073010G= | CA1788938338 | TTPA | c.283C= (p.Leu95=) n.232+12808C= c.205-8694C= (n.205-8694C=) | |
| 8 | g.63073010G>T | CA371333804 | TTPA | c.283C>A (p.Leu95Ile) n.232+12808C>A c.205-8694C>A (n.205-8694C>A) | |
| 8 | g.63073011G>A | CA461144512 | TTPA | c.282C>T (p.Gly94=) n.232+12807C>T c.205-8695C>T (n.205-8695C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073011G>C | CA461144513 | TTPA | c.282C>G (p.Gly94=) n.232+12807C>G c.205-8695C>G (n.205-8695C>G) | |
| 8 | g.63073011G= | CA1788938339 | TTPA | c.282C= (p.Gly94=) n.232+12807C= c.205-8695C= (n.205-8695C=) | |
| 8 | g.63073011G>T | CA461144514 | TTPA | c.282C>A (p.Gly94=) n.232+12807C>A c.205-8695C>A (n.205-8695C>A) | |
| 8 | g.63073012C>A | CA4763284 | TTPA | c.281G>T (p.Gly94Val) n.232+12806G>T c.205-8696G>T (n.205-8696G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073012C= | CA1788938340 | TTPA | c.281G= (p.Gly94=) n.232+12806G= c.205-8696G= (n.205-8696G=) | |
| 8 | g.63073012C>G | CA371333805 | TTPA | c.281G>C (p.Gly94Ala) n.232+12806G>C c.205-8696G>C (n.205-8696G>C) | |
| 8 | g.63073012C>T | CA371333806 | TTPA | c.281G>A (p.Gly94Asp) n.232+12806G>A c.205-8696G>A (n.205-8696G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073013C>A | CA371333807 | TTPA | c.280G>T (p.Gly94Cys) n.232+12805G>T c.205-8697G>T (n.205-8697G>T) | |
| 8 | g.63073013C>G | CA371333809 | TTPA | c.280G>C (p.Gly94Arg) n.232+12805G>C c.205-8697G>C (n.205-8697G>C) | |
| 8 | g.63073013C>T | CA371333808 | TTPA | c.280G>A (p.Gly94Ser) n.232+12805G>A c.205-8697G>A (n.205-8697G>A) | |
| 8 | g.63073014A= | CA1788938341 | TTPA | c.279T= (p.Ile93=) n.232+12804T= c.205-8698T= (n.205-8698T=) | |
| 8 | g.63073014A>C | CA4763286 | TTPA | c.279T>G (p.Ile93Met) n.232+12804T>G c.205-8698T>G (n.205-8698T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073014A>G | CA4763285 | TTPA | c.279T>C (p.Ile93=) n.232+12804T>C c.205-8698T>C (n.205-8698T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073014A>T | CA461144515 | TTPA | c.279T>A (p.Ile93=) n.232+12804T>A c.205-8698T>A (n.205-8698T>A) | |
| 8 | g.63073015_63073018del | CA2687441788 | TTPA | c.276_279del (p.Ile92MetfsTer4) n.232+12801_232+12804del c.205-8701_205-8698del (n.205-8701_205-8698del) | gnomAD v4 |
| 8 | g.63073018_63073020dup | CA2599390496 | TTPA | c.277_279dup (p.Ile93_Gly94insIle) n.232+12802_232+12804dup c.205-8700_205-8698dup (n.205-8700_205-8698dup) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073015A= | CA1788938342 | TTPA | c.278T= (p.Ile93=) n.232+12803T= c.205-8699T= (n.205-8699T=) | |
| 8 | g.63073015A>C | CA371333810 | TTPA | c.278T>G (p.Ile93Ser) n.232+12803T>G c.205-8699T>G (n.205-8699T>G) | |
| 8 | g.63073015A>G | CA371333811 | TTPA | c.278T>C (p.Ile93Thr) n.232+12803T>C c.205-8699T>C (n.205-8699T>C) | |
| 8 | g.63073015A>T | CA4763287 | TTPA | c.278T>A (p.Ile93Asn) n.232+12803T>A c.205-8699T>A (n.205-8699T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073016T>A | CA371333812 | TTPA | c.277A>T (p.Ile93Phe) n.232+12802A>T c.205-8700A>T (n.205-8700A>T) | gnomAD v4 |
| 8 | g.63073016T>C | CA371333813 | TTPA | c.277A>G (p.Ile93Val) n.232+12802A>G c.205-8700A>G (n.205-8700A>G) | |
| 8 | g.63073016T>G | CA371333814 | TTPA | c.277A>C (p.Ile93Leu) n.232+12802A>C c.205-8700A>C (n.205-8700A>C) | |
| 8 | g.63073017A>C | CA371333815 | TTPA | c.276T>G (p.Ile92Met) n.232+12801T>G c.205-8701T>G (n.205-8701T>G) | |
| 8 | g.63073017A>G | CA461144516 | TTPA | c.276T>C (p.Ile92=) n.232+12801T>C c.205-8701T>C (n.205-8701T>C) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63073017A>T | CA461144517 | TTPA | c.276T>A (p.Ile92=) n.232+12801T>A c.205-8701T>A (n.205-8701T>A) | |
| 8 | g.63073018A>C | CA371333816 | TTPA | c.275T>G (p.Ile92Ser) n.232+12800T>G c.205-8702T>G (n.205-8702T>G) | |
| 8 | g.63073018A>G | CA371333817 | TTPA | c.275T>C (p.Ile92Thr) n.232+12800T>C c.205-8702T>C (n.205-8702T>C) | |
| 8 | g.63073018A>T | CA371333818 | TTPA | c.275T>A (p.Ile92Asn) n.232+12800T>A c.205-8702T>A (n.205-8702T>A) | |
| 8 | g.63073019T>A | CA371333819 | TTPA | c.274A>T (p.Ile92Phe) n.232+12799A>T c.205-8703A>T (n.205-8703A>T) | |
| 8 | g.63073019T>C | CA371333820 | TTPA | c.274A>G (p.Ile92Val) n.232+12799A>G c.205-8703A>G (n.205-8703A>G) | |
| 8 | g.63073019T>G | CA371333821 | TTPA | c.274A>C (p.Ile92Leu) n.232+12799A>C c.205-8703A>C (n.205-8703A>C) | |
| 8 | g.63073020A= | CA1788938343 | TTPA | c.273T= (p.Ser91=) n.232+12798T= c.205-8704T= (n.205-8704T=) | |
| 8 | g.63073020A>C | CA371333822 | TTPA | c.273T>G (p.Ser91Arg) n.232+12798T>G c.205-8704T>G (n.205-8704T>G) | |
| 8 | g.63073020A>G | CA461144518 | TTPA | c.273T>C (p.Ser91=) n.232+12798T>C c.205-8704T>C (n.205-8704T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073020A>T | CA371333823 | TTPA | c.273T>A (p.Ser91Arg) n.232+12798T>A c.205-8704T>A (n.205-8704T>A) | |
| 8 | g.63073021C>A | CA371333824 | TTPA | c.272G>T (p.Ser91Ile) n.232+12797G>T c.205-8705G>T (n.205-8705G>T) | |
| 8 | g.63073021C= | CA1788938344 | TTPA | c.272G= (p.Ser91=) n.232+12797G= c.205-8705G= (n.205-8705G=) | |
| 8 | g.63073021C>G | CA4763288 | TTPA | c.272G>C (p.Ser91Thr) n.232+12797G>C c.205-8705G>C (n.205-8705G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073021C>T | CA371333825 | TTPA | c.272G>A (p.Ser91Asn) n.232+12797G>A c.205-8705G>A (n.205-8705G>A) | |
| 8 | g.63073022T>A | CA371333826 | TTPA | c.271A>T (p.Ser91Cys) n.232+12796A>T c.205-8706A>T (n.205-8706A>T) | |
| 8 | g.63073022T>C | CA371333827 | TTPA | c.271A>G (p.Ser91Gly) n.232+12796A>G c.205-8706A>G (n.205-8706A>G) | gnomAD v4 |
| 8 | g.63073022T>G | CA371333828 | TTPA | c.271A>C (p.Ser91Arg) n.232+12796A>C c.205-8706A>C (n.205-8706A>C) | |
| 8 | g.63073022_63073023del | CA2556430273 | TTPA | c.270_271del (p.Ser91TyrfsTer?) n.232+12795_232+12796del c.205-8707_205-8706del (n.205-8707_205-8706del) | |
| 8 | g.63073023T>A | CA371333829 | TTPA | c.270A>T (p.Arg90Ser) n.232+12795A>T c.205-8707A>T (n.205-8707A>T) | |
| 8 | g.63073023T>C | CA461144519 | TTPA | c.270A>G (p.Arg90=) n.232+12795A>G c.205-8707A>G (n.205-8707A>G) | |
| 8 | g.63073023T>G | CA371333830 | TTPA | c.270A>C (p.Arg90Ser) n.232+12795A>C c.205-8707A>C (n.205-8707A>C) | |
| 8 | g.63073024C>A | CA371333831 | TTPA | c.269G>T (p.Arg90Ile) n.232+12794G>T c.205-8708G>T (n.205-8708G>T) | gnomAD v4 |
| 8 | g.63073024C>G | CA371333832 | TTPA | c.269G>C (p.Arg90Thr) n.232+12794G>C c.205-8708G>C (n.205-8708G>C) | |
| 8 | g.63073024C>T | CA371333833 | TTPA | c.269G>A (p.Arg90Lys) n.232+12794G>A c.205-8708G>A (n.205-8708G>A) | |
| 8 | g.63073024_63073025insATA | CA2552540851 | TTPA | c.268_269insTAT (p.Arg90IlefsTer2) n.232+12793_232+12794insTAT c.205-8709_205-8708insTAT (n.205-8709_205-8708insTAT) | |
| 8 | g.63073025T>A | CA371333834 | TTPA | c.268A>T (p.Arg90Ter) n.232+12793A>T c.205-8709A>T (n.205-8709A>T) | |
| 8 | g.63073025T>C | CA371333835 | TTPA | c.268A>G (p.Arg90Gly) n.232+12793A>G c.205-8709A>G (n.205-8709A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073025T>G | CA461144520 | TTPA | c.268A>C (p.Arg90=) n.232+12793A>C c.205-8709A>C (n.205-8709A>C) | |
| 8 | g.63073025T= | CA1788938345 | TTPA | c.268A= (p.Arg90=) n.232+12793A= c.205-8709A= (n.205-8709A=) | |
| 8 | g.63073026A>C | CA461144521 | TTPA | c.267T>G (p.Pro89=) n.232+12792T>G c.205-8710T>G (n.205-8710T>G) | |
| 8 | g.63073026A>G | CA461144523 | TTPA | c.267T>C (p.Pro89=) n.232+12792T>C c.205-8710T>C (n.205-8710T>C) | gnomAD v4 |
| 8 | g.63073026A>T | CA461144522 | TTPA | c.267T>A (p.Pro89=) n.232+12792T>A c.205-8710T>A (n.205-8710T>A) | |
| 8 | g.63073027G>A | CA4763290 | TTPA | c.266C>T (p.Pro89Leu) n.232+12791C>T c.205-8711C>T (n.205-8711C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073027G>C | CA4763289 | TTPA | c.266C>G (p.Pro89Arg) n.232+12791C>G c.205-8711C>G (n.205-8711C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073027G= | CA1788938346 | TTPA | c.266C= (p.Pro89=) n.232+12791C= c.205-8711C= (n.205-8711C=) | |
| 8 | g.63073027G>T | CA371333836 | TTPA | c.266C>A (p.Pro89His) n.232+12791C>A c.205-8711C>A (n.205-8711C>A) | |
| 8 | g.63073029del | CA2580078859 | TTPA | c.266del (p.Pro89LeufsTer8) n.232+12791del c.205-8711del (n.205-8711del) | ClinVar |
| 8 | g.63073028G>A | CA4763291 | TTPA | c.265C>T (p.Pro89Ser) n.232+12790C>T c.205-8712C>T (n.205-8712C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073028G>C | CA371333837 | TTPA | c.265C>G (p.Pro89Ala) n.232+12790C>G c.205-8712C>G (n.205-8712C>G) | dbSNP |
| 8 | g.63073028G= | CA1788938347 | TTPA | c.265C= (p.Pro89=) n.232+12790C= c.205-8712C= (n.205-8712C=) | |
| 8 | g.63073028G>T | CA371333838 | TTPA | c.265C>A (p.Pro89Thr) n.232+12790C>A c.205-8712C>A (n.205-8712C>A) | |
| 8 | g.63073029G>A | CA461144524 | TTPA | c.264C>T (p.His88=) n.232+12789C>T c.205-8713C>T (n.205-8713C>T) | dbSNP |
| 8 | g.63073029G>C | CA371333839 | TTPA | c.264C>G (p.His88Gln) n.232+12789C>G c.205-8713C>G (n.205-8713C>G) | gnomAD v4 |
| 8 | g.63073029G>T | CA371333840 | TTPA | c.264C>A (p.His88Gln) n.232+12789C>A c.205-8713C>A (n.205-8713C>A) | |
| 8 | g.63073030T>A | CA371333841 | TTPA | c.263A>T (p.His88Leu) n.232+12788A>T c.205-8714A>T (n.205-8714A>T) | |
| 8 | g.63073030T>C | CA371333842 | TTPA | c.263A>G (p.His88Arg) n.232+12788A>G c.205-8714A>G (n.205-8714A>G) | |
| 8 | g.63073030T>G | CA371333843 | TTPA | c.263A>C (p.His88Pro) n.232+12788A>C c.205-8714A>C (n.205-8714A>C) | |
| 8 | g.63073031G>A | CA178387674 | TTPA | c.262C>T (p.His88Tyr) n.232+12787C>T c.205-8715C>T (n.205-8715C>T) | dbSNP |
| 8 | g.63073031G>C | CA371333845 | TTPA | c.262C>G (p.His88Asp) n.232+12787C>G c.205-8715C>G (n.205-8715C>G) | |
| 8 | g.63073031G= | CA1788938348 | TTPA | c.262C= (p.His88=) n.232+12787C= c.205-8715C= (n.205-8715C=) | |
| 8 | g.63073031G>T | CA371333844 | TTPA | c.262C>A (p.His88Asn) n.232+12787C>A c.205-8715C>A (n.205-8715C>A) | |
| 8 | g.63073032T>A | CA461144525 | TTPA | c.261A>T (p.Leu87=) n.232+12786A>T c.205-8716A>T (n.205-8716A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073032T>C | CA461144526 | TTPA | c.261A>G (p.Leu87=) n.232+12786A>G c.205-8716A>G (n.205-8716A>G) | ClinVar dbSNP gnomAD v2 COSMIC |
| 8 | g.63073032T>G | CA461144527 | TTPA | c.261A>C (p.Leu87=) n.232+12786A>C c.205-8716A>C (n.205-8716A>C) | |
| 8 | g.63073032T= | CA1788938349 | TTPA | c.261A= (p.Leu87=) n.232+12786A= c.205-8716A= (n.205-8716A=) | |
| 8 | g.63073033A= | CA1788938350 | TTPA | c.260T= (p.Leu87=) n.232+12785T= c.205-8717T= (n.205-8717T=) | |
| 8 | g.63073033A>C | CA371333846 | TTPA | c.260T>G (p.Leu87Arg) n.232+12785T>G c.205-8717T>G (n.205-8717T>G) | |
| 8 | g.63073033A>G | CA371333847 | TTPA | c.260T>C (p.Leu87Pro) n.232+12785T>C c.205-8717T>C (n.205-8717T>C) | |
| 8 | g.63073033A>T | CA371333848 | TTPA | c.260T>A (p.Leu87Gln) n.232+12785T>A c.205-8717T>A (n.205-8717T>A) | |
| 8 | g.63073033dup | CA913141810 | TTPA | c.260dup (p.His88ThrfsTer3) n.232+12785dup c.205-8717dup (n.205-8717dup) | |
| 8 | g.63073034G>A | CA461144528 | TTPA | c.259C>T (p.Leu87=) n.232+12784C>T c.205-8718C>T (n.205-8718C>T) | |
| 8 | g.63073034G>C | CA4763292 | TTPA | c.259C>G (p.Leu87Val) n.232+12784C>G c.205-8718C>G (n.205-8718C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073034G= | CA1788938351 | TTPA | c.259C= (p.Leu87=) n.232+12784C= c.205-8718C= (n.205-8718C=) | |
| 8 | g.63073034G>T | CA371333849 | TTPA | c.259C>A (p.Leu87Ile) n.232+12784C>A c.205-8718C>A (n.205-8718C>A) | |
| 8 | g.63073034_63073039dup | CA658822188 | TTPA | c.254_259dup (p.Asp86_Leu87insProAsp) n.232+12779_232+12784dup c.205-8723_205-8718dup (n.205-8723_205-8718dup) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63073035A= | CA1788938352 | TTPA | c.258T= (p.Asp86=) n.232+12783T= c.205-8719T= (n.205-8719T=) | |
| 8 | g.63073035A>C | CA371333850 | TTPA | c.258T>G (p.Asp86Glu) n.232+12783T>G c.205-8719T>G (n.205-8719T>G) | |
| 8 | g.63073035A>G | CA461144529 | TTPA | c.258T>C (p.Asp86=) n.232+12783T>C c.205-8719T>C (n.205-8719T>C) | |
| 8 | g.63073035A>T | CA371333851 | TTPA | c.258T>A (p.Asp86Glu) n.232+12783T>A c.205-8719T>A (n.205-8719T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073036T>A | CA371333852 | TTPA | c.257A>T (p.Asp86Val) n.232+12782A>T c.205-8720A>T (n.205-8720A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073036T>C | CA371333853 | TTPA | c.257A>G (p.Asp86Gly) n.232+12782A>G c.205-8720A>G (n.205-8720A>G) | |
| 8 | g.63073036T>G | CA371333854 | TTPA | c.257A>C (p.Asp86Ala) n.232+12782A>C c.205-8720A>C (n.205-8720A>C) | gnomAD v4 |
| 8 | g.63073037C>A | CA371333855 | TTPA | c.256G>T (p.Asp86Tyr) n.232+12781G>T c.205-8721G>T (n.205-8721G>T) | |
| 8 | g.63073037C>G | CA371333856 | TTPA | c.256G>C (p.Asp86His) n.232+12781G>C c.205-8721G>C (n.205-8721G>C) | |
| 8 | g.63073037C>T | CA371333857 | TTPA | c.256G>A (p.Asp86Asn) n.232+12781G>A c.205-8721G>A (n.205-8721G>A) | |
| 8 | g.63073037_63073038delinsGG | CA2573143306 | TTPA | c.255_256delinsCC (p.Asp86His) n.232+12780_232+12781delinsCC c.205-8722_205-8721delinsCC (n.205-8722_205-8721delinsCC) | ClinVar dbSNP |
| 8 | g.63073038T>A | CA461144530 | TTPA | c.255A>T (p.Ala85=) n.232+12780A>T c.205-8722A>T (n.205-8722A>T) | |
| 8 | g.63073038T>C | CA461144532 | TTPA | c.255A>G (p.Ala85=) n.232+12780A>G c.205-8722A>G (n.205-8722A>G) | |
| 8 | g.63073038T>G | CA461144531 | TTPA | c.255A>C (p.Ala85=) n.232+12780A>C c.205-8722A>C (n.205-8722A>C) | |
| 8 | g.63073038T= | CA1788938353 | TTPA | c.255A= (p.Ala85=) n.232+12780A= c.205-8722A= (n.205-8722A=) | |
| 8 | g.63073038_63073039insCGGTGGTT | CA2687441789 | TTPA | c.255_256insACCACCGA (p.Asp86ThrfsTer14) n.232+12780_232+12781insACCACCGA c.205-8722_205-8721insACCACCGA (n.205-8722_205-8721insACCACCGA) | gnomAD v4 |
| 8 | g.63073039_63073048del | CA1114602837 | TTPA | c.246_255del (p.Ser84TyrfsTer10) n.232+12771_232+12780del c.205-8731_205-8722del (n.205-8731_205-8722del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073038_63073039insC | CA1114602845 | TTPA | c.254_255insG (p.Asp86ArgfsTer5) n.232+12779_232+12780insG c.205-8723_205-8722insG (n.205-8723_205-8722insG) | gnomAD v3 gnomAD v4 |
| 8 | g.63073038_63073039insCGGTGGTC | CA581998979 | TTPA | c.254_255insGACCACCG (p.Asp86ThrfsTer14) n.232+12779_232+12780insGACCACCG c.205-8723_205-8722insGACCACCG (n.205-8723_205-8722insGACCACCG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073038_63073039insCGGTGTTC | CA2687441790 | TTPA | c.254_255insGAACACCG (p.Asp86AsnfsTer14) n.232+12779_232+12780insGAACACCG c.205-8723_205-8722insGAACACCG (n.205-8723_205-8722insGAACACCG) | gnomAD v4 |
| 8 | g.63073038_63073039insCGGTTGTC | CA2687441791 | TTPA | c.254_255insGACAACCG (p.Asp86ThrfsTer14) n.232+12779_232+12780insGACAACCG c.205-8723_205-8722insGACAACCG (n.205-8723_205-8722insGACAACCG) | gnomAD v4 |
| 8 | g.63073038_63073039insCGGTGGTCGTC | CA2514420457 | TTPA | c.254_255insGACGACCACCG (p.Asp86ThrfsTer15) n.232+12779_232+12780insGACGACCACCG c.205-8723_205-8722insGACGACCACCG (n.205-8723_205-8722insGACGACCACCG) | gnomAD v4 |
| 8 | g.63073039del | CA2503996661 | TTPA | c.254del (p.Ala85GlufsTer12) n.232+12779del c.205-8723del (n.205-8723del) | |
| 8 | g.63073039G>A | CA371333860 | TTPA | c.254C>T (p.Ala85Val) n.232+12779C>T c.205-8723C>T (n.205-8723C>T) | gnomAD v3 gnomAD v4 |
| 8 | g.63073039G>C | CA371333859 | TTPA | c.254C>G (p.Ala85Gly) n.232+12779C>G c.205-8723C>G (n.205-8723C>G) | ClinVar dbSNP |
| 8 | g.63073039G= | CA1788938354 | TTPA | c.254C= (p.Ala85=) n.232+12779C= c.205-8723C= (n.205-8723C=) | |
| 8 | g.63073039G>T | CA371333858 | TTPA | c.254C>A (p.Ala85Glu) n.232+12779C>A c.205-8723C>A (n.205-8723C>A) | |
| 8 | g.63073039_63073040insGTGGTCGCCGTATCATTAAAAAATC | CA1114602850 | TTPA | c.253_254insGATTTTTTAATGATACGGCGACCAC (p.Ala85GlyfsTer14) n.232+12778_232+12779insGATTTTTTAATGATACGGCGACCAC c.205-8724_205-8723insGATTTTTTAATGATACGGCGACCAC (n.205-8724_205-8723insGATTTTTTAATGATACGGCGACCAC) | gnomAD v3 gnomAD v4 |
| 8 | g.63073040C>A | CA371333862 | TTPA | c.253G>T (p.Ala85Ser) n.232+12778G>T c.205-8724G>T (n.205-8724G>T) | |
| 8 | g.63073040C= | CA1788938356 | TTPA | c.253G= (p.Ala85=) n.232+12778G= c.205-8724G= (n.205-8724G=) | |
| 8 | g.63073040C>G | CA371333861 | TTPA | c.253G>C (p.Ala85Pro) n.232+12778G>C c.205-8724G>C (n.205-8724G>C) | |
| 8 | g.63073040C>T | CA371333863 | TTPA | c.253G>A (p.Ala85Thr) n.232+12778G>A c.205-8724G>A (n.205-8724G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073040_63073041delinsCA | CA1788938355 | TTPA | c.252_253delinsTG (p.Ser84=) n.232+12777_232+12778delinsTG c.205-8725_205-8724delinsTG (n.205-8725_205-8724delinsTG) | |
| 8 | g.63073040_63073043del | CA2521382346 | TTPA | c.250_253del (p.Ser84GlnfsTer12) n.232+12775_232+12778del c.205-8727_205-8724del (n.205-8727_205-8724del) | gnomAD v4 |
| 8 | g.63073041del | CA581998983 | TTPA | c.252del (p.Ser84ArgfsTer13) n.232+12777del c.205-8725del (n.205-8725del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073041A>C | CA371333864 | TTPA | c.252T>G (p.Ser84Arg) n.232+12777T>G c.205-8725T>G (n.205-8725T>G) | |
| 8 | g.63073041A>G | CA461144533 | TTPA | c.252T>C (p.Ser84=) n.232+12777T>C c.205-8725T>C (n.205-8725T>C) | |
| 8 | g.63073041A>T | CA371333865 | TTPA | c.252T>A (p.Ser84Arg) n.232+12777T>A c.205-8725T>A (n.205-8725T>A) | |
| 8 | g.63073041_63073048del | CA1114602855 | TTPA | c.245_252del (p.Glu82GlyfsTer6) n.232+12770_232+12777del c.205-8732_205-8725del (n.205-8732_205-8725del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073042C>A | CA4763293 | TTPA | c.251G>T (p.Ser84Ile) n.232+12776G>T c.205-8726G>T (n.205-8726G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073042C= | CA1788938357 | TTPA | c.251G= (p.Ser84=) n.232+12776G= c.205-8726G= (n.205-8726G=) | |
| 8 | g.63073042C>G | CA371333866 | TTPA | c.251G>C (p.Ser84Thr) n.232+12776G>C c.205-8726G>C (n.205-8726G>C) | |
| 8 | g.63073042C>T | CA178387679 | TTPA | c.251G>A (p.Ser84Asn) n.232+12776G>A c.205-8726G>A (n.205-8726G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073042dup | CA2780587746 | TTPA | c.251dup (p.Ser84ArgfsTer7) n.232+12776dup c.205-8726dup (n.205-8726dup) | |
| 8 | g.63073042_63073044del | CA2780587747 | TTPA | c.249_251del (p.Ser84del) n.232+12774_232+12776del c.205-8728_205-8726del (n.205-8728_205-8726del) | |
| 8 | g.63073043T>A | CA371333867 | TTPA | c.250A>T (p.Ser84Cys) n.232+12775A>T c.205-8727A>T (n.205-8727A>T) | |
| 8 | g.63073043T>C | CA371333868 | TTPA | c.250A>G (p.Ser84Gly) n.232+12775A>G c.205-8727A>G (n.205-8727A>G) | |
| 8 | g.63073043T>G | CA371333869 | TTPA | c.250A>C (p.Ser84Arg) n.232+12775A>C c.205-8727A>C (n.205-8727A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073043T= | CA1788938358 | TTPA | c.250A= (p.Ser84=) n.232+12775A= c.205-8727A= (n.205-8727A=) | |
| 8 | g.63073044T>A | CA461144534 | TTPA | c.249A>T (p.Ile83=) n.232+12774A>T c.205-8728A>T (n.205-8728A>T) | |
| 8 | g.63073044T>C | CA371333870 | TTPA | c.249A>G (p.Ile83Met) n.232+12774A>G c.205-8728A>G (n.205-8728A>G) | |
| 8 | g.63073044T>G | CA461144535 | TTPA | c.249A>C (p.Ile83=) n.232+12774A>C c.205-8728A>C (n.205-8728A>C) | |
| 8 | g.63073045A>C | CA371333871 | TTPA | c.248T>G (p.Ile83Arg) n.232+12773T>G c.205-8729T>G (n.205-8729T>G) | |
| 8 | g.63073045A>G | CA371333872 | TTPA | c.248T>C (p.Ile83Thr) n.232+12773T>C c.205-8729T>C (n.205-8729T>C) | |
| 8 | g.63073045A>T | CA371333873 | TTPA | c.248T>A (p.Ile83Lys) n.232+12773T>A c.205-8729T>A (n.205-8729T>A) | |
| 8 | g.63073046T>A | CA371333876 | TTPA | c.247A>T (p.Ile83Leu) n.232+12772A>T c.205-8730A>T (n.205-8730A>T) | dbSNP |
| 8 | g.63073046T>C | CA371333874 | TTPA | c.247A>G (p.Ile83Val) n.232+12772A>G c.205-8730A>G (n.205-8730A>G) | |
| 8 | g.63073046T>G | CA371333875 | TTPA | c.247A>C (p.Ile83Leu) n.232+12772A>C c.205-8730A>C (n.205-8730A>C) | |
| 8 | g.63073046_63073052del | CA2687441792 | TTPA | c.241_247del (p.Pro81Ter) n.232+12766_232+12772del c.205-8736_205-8730del (n.205-8736_205-8730del) | gnomAD v4 |
| 8 | g.63073046_63073053delinsTTTCTGGA | CA1788938359 | TTPA | c.240_247delinsTCCAGAAA (p.Cys80=) n.232+12765_232+12772delinsTCCAGAAA c.205-8737_205-8730delinsTCCAGAAA (n.205-8737_205-8730delinsTCCAGAAA) | |
| 8 | g.63073047T>A | CA371333877 | TTPA | c.246A>T (p.Glu82Asp) n.232+12771A>T c.205-8731A>T (n.205-8731A>T) | |
| 8 | g.63073047T>C | CA461144536 | TTPA | c.246A>G (p.Glu82=) n.232+12771A>G c.205-8731A>G (n.205-8731A>G) | |
| 8 | g.63073047T>G | CA371333878 | TTPA | c.246A>C (p.Glu82Asp) n.232+12771A>C c.205-8731A>C (n.205-8731A>C) | |
| 8 | g.63073047_63073053del | CA581998994 | TTPA | c.240_246del (p.Cys80Ter) n.232+12765_232+12771del c.205-8737_205-8731del (n.205-8737_205-8731del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073048T>A | CA371333879 | TTPA | c.245A>T (p.Glu82Val) n.232+12770A>T c.205-8732A>T (n.205-8732A>T) | dbSNP COSMIC |
| 8 | g.63073048T>C | CA371333880 | TTPA | c.245A>G (p.Glu82Gly) n.232+12770A>G c.205-8732A>G (n.205-8732A>G) | |
| 8 | g.63073048T>G | CA371333881 | TTPA | c.245A>C (p.Glu82Ala) n.232+12770A>C c.205-8732A>C (n.205-8732A>C) | |
| 8 | g.63073048_63073049insACAGAAT | CA2544525093 | TTPA | c.245_246insTTCTGTA (p.Glu82AspfsTer11) n.232+12770_232+12771insTTCTGTA c.205-8732_205-8731insTTCTGTA (n.205-8732_205-8731insTTCTGTA) | |
| 8 | g.63073048_63073049insATA | CA2780587754 | TTPA | c.244_245insTAT (p.Glu82ValfsTer2) n.232+12769_232+12770insTAT c.205-8733_205-8732insTAT (n.205-8733_205-8732insTAT) | |
| 8 | g.63073049C>A | CA371333882 | TTPA | c.244G>T (p.Glu82Ter) n.232+12769G>T c.205-8733G>T (n.205-8733G>T) | gnomAD v4 |
| 8 | g.63073049C>G | CA371333883 | TTPA | c.244G>C (p.Glu82Gln) n.232+12769G>C c.205-8733G>C (n.205-8733G>C) | |
| 8 | g.63073049C>T | CA371333884 | TTPA | c.244G>A (p.Glu82Lys) n.232+12769G>A c.205-8733G>A (n.205-8733G>A) | |
| 8 | g.63073049_63073050insGG | CA1114602864 | TTPA | c.243_244insCC (p.Glu82ProfsTer3) n.232+12768_232+12769insCC c.205-8734_205-8733insCC (n.205-8734_205-8733insCC) | gnomAD v3 gnomAD v4 |
| 8 | g.63073050T>A | CA461144537 | TTPA | c.243A>T (p.Pro81=) n.232+12768A>T c.205-8734A>T (n.205-8734A>T) | |
| 8 | g.63073050T>C | CA461144538 | TTPA | c.243A>G (p.Pro81=) n.232+12768A>G c.205-8734A>G (n.205-8734A>G) | |
| 8 | g.63073050T>G | CA461144539 | TTPA | c.243A>C (p.Pro81=) n.232+12768A>C c.205-8734A>C (n.205-8734A>C) | gnomAD v3 gnomAD v4 |
| 8 | g.63073050T= | CA1788938360 | TTPA | c.243A= (p.Pro81=) n.232+12768A= c.205-8734A= (n.205-8734A=) | |
| 8 | g.63073050_63073051insTCCTTGAATACCATATA | CA1788938361 | TTPA | c.242_243insTATATGGTATTCAAGGA (p.Glu82IlefsTer8) n.232+12767_232+12768insTATATGGTATTCAAGGA c.205-8735_205-8734insTATATGGTATTCAAGGA (n.205-8735_205-8734insTATATGGTATTCAAGGA) | dbSNP |
| 8 | g.63073051G>A | CA371333885 | TTPA | c.242C>T (p.Pro81Leu) n.232+12767C>T c.205-8735C>T (n.205-8735C>T) | |
| 8 | g.63073051G>C | CA371333886 | TTPA | c.242C>G (p.Pro81Arg) n.232+12767C>G c.205-8735C>G (n.205-8735C>G) | |
| 8 | g.63073051G>T | CA371333887 | TTPA | c.242C>A (p.Pro81Gln) n.232+12767C>A c.205-8735C>A (n.205-8735C>A) | dbSNP |
| 8 | g.63073052del | CA2573143307 | TTPA | c.242del (p.Pro81GlnfsTer3) n.232+12767del c.205-8735del (n.205-8735del) | ClinVar dbSNP |
| 8 | g.63073052G>A | CA371333889 | TTPA | c.241C>T (p.Pro81Ser) n.232+12766C>T c.205-8736C>T (n.205-8736C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073052G>C | CA371333890 | TTPA | c.241C>G (p.Pro81Ala) n.232+12766C>G c.205-8736C>G (n.205-8736C>G) | |
| 8 | g.63073052G= | CA1788938362 | TTPA | c.241C= (p.Pro81=) n.232+12766C= c.205-8736C= (n.205-8736C=) | |
| 8 | g.63073052G>T | CA371333888 | TTPA | c.241C>A (p.Pro81Thr) n.232+12766C>A c.205-8736C>A (n.205-8736C>A) | |
| 8 | g.63073053A>C | CA371333891 | TTPA | c.240T>G (p.Cys80Trp) n.232+12765T>G c.205-8737T>G (n.205-8737T>G) | |
| 8 | g.63073053A>G | CA461144540 | TTPA | c.240T>C (p.Cys80=) n.232+12765T>C c.205-8737T>C (n.205-8737T>C) | |
| 8 | g.63073053A>T | CA371333892 | TTPA | c.240T>A (p.Cys80Ter) n.232+12765T>A c.205-8737T>A (n.205-8737T>A) | gnomAD v3 gnomAD v4 |
| 8 | g.63073053_63073055del | CA2687441793 | TTPA | c.238_240del (p.Cys80del) n.232+12763_232+12765del c.205-8739_205-8737del (n.205-8739_205-8737del) | gnomAD v4 |
| 8 | g.63073053_63073056del | CA1114602895 | TTPA | c.237_240del (p.Glu79AspfsTer4) n.232+12762_232+12765del c.205-8740_205-8737del (n.205-8740_205-8737del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073054C>A | CA371333893 | TTPA | c.239G>T (p.Cys80Phe) n.232+12764G>T c.205-8738G>T (n.205-8738G>T) | |
| 8 | g.63073054C= | CA1788938363 | TTPA | c.239G= (p.Cys80=) n.232+12764G= c.205-8738G= (n.205-8738G=) | |
| 8 | g.63073054C>G | CA371333894 | TTPA | c.239G>C (p.Cys80Ser) n.232+12764G>C c.205-8738G>C (n.205-8738G>C) | |
| 8 | g.63073054C>T | CA371333895 | TTPA | c.239G>A (p.Cys80Tyr) n.232+12764G>A c.205-8738G>A (n.205-8738G>A) | dbSNP |
| 8 | g.63073054_63073058del | CA2687441794 | TTPA | c.235_239del (p.Glu79SerfsTer10) n.232+12760_232+12764del c.205-8742_205-8738del (n.205-8742_205-8738del) | gnomAD v4 |
| 8 | g.63073055A>C | CA371333896 | TTPA | c.238T>G (p.Cys80Gly) n.232+12763T>G c.205-8739T>G (n.205-8739T>G) | |
| 8 | g.63073055A>G | CA371333897 | TTPA | c.238T>C (p.Cys80Arg) n.232+12763T>C c.205-8739T>C (n.205-8739T>C) | |
| 8 | g.63073055A>T | CA371333898 | TTPA | c.238T>A (p.Cys80Ser) n.232+12763T>A c.205-8739T>A (n.205-8739T>A) | |
| 8 | g.63073055_63073059del | CA1114602906 | TTPA | c.234_238del (p.Glu79SerfsTer10) n.232+12759_232+12763del c.205-8743_205-8739del (n.205-8743_205-8739del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073056T>A | CA371333899 | TTPA | c.237A>T (p.Glu79Asp) n.232+12762A>T c.205-8740A>T (n.205-8740A>T) | |
| 8 | g.63073056T>C | CA461144541 | TTPA | c.237A>G (p.Glu79=) n.232+12762A>G c.205-8740A>G (n.205-8740A>G) | |
| 8 | g.63073056T>G | CA371333900 | TTPA | c.237A>C (p.Glu79Asp) n.232+12762A>C c.205-8740A>C (n.205-8740A>C) | |
| 8 | g.63073057T>A | CA371333901 | TTPA | c.236A>T (p.Glu79Val) n.232+12761A>T c.205-8741A>T (n.205-8741A>T) | |
| 8 | g.63073057T>C | CA371333902 | TTPA | c.236A>G (p.Glu79Gly) n.232+12761A>G c.205-8741A>G (n.205-8741A>G) | COSMIC |
| 8 | g.63073057T>G | CA371333903 | TTPA | c.236A>C (p.Glu79Ala) n.232+12761A>C c.205-8741A>C (n.205-8741A>C) | |
| 8 | g.63073057_63073058insAAAAAAT | CA1114602908 | TTPA | c.236_237insTTTTTTA (p.Glu79AspfsTer14) n.232+12761_232+12762insTTTTTTA c.205-8741_205-8740insTTTTTTA (n.205-8741_205-8740insTTTTTTA) | gnomAD v3 gnomAD v4 |
| 8 | g.63073057_63073063delinsTCTGCTC | CA1788938364 | TTPA | c.230_236delinsGAGCAGA (p.Arg77=) n.232+12755_232+12761delinsGAGCAGA c.205-8747_205-8741delinsGAGCAGA (n.205-8747_205-8741delinsGAGCAGA) | |
| 8 | g.63073060_63073064del | CA1114602915 | TTPA | c.232_236del (p.Ala78MetfsTer11) n.232+12757_232+12761del c.205-8745_205-8741del (n.205-8745_205-8741del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073059_63073065del | CA1114602911 | TTPA | c.230_236del (p.Arg77AsnfsTer5) n.232+12755_232+12761del c.205-8747_205-8741del (n.205-8747_205-8741del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073057_63073066delinsTCTGCTCTCC | CA1788938365 | TTPA | c.227_236delinsGGAGAGCAGA (p.Trp76=) n.232+12752_232+12761delinsGGAGAGCAGA c.205-8750_205-8741delinsGGAGAGCAGA (n.205-8750_205-8741delinsGGAGAGCAGA) | |
| 8 | g.63073057_63073058insAAAAA | CA2687441795 | TTPA | c.235_236insTTTTT (p.Glu79ValfsTer7) n.232+12760_232+12761insTTTTT c.205-8742_205-8741insTTTTT (n.205-8742_205-8741insTTTTT) | gnomAD v4 |
| 8 | g.63073057_63073058insATAAA | CA2687441796 | TTPA | c.235_236insTTTAT (p.Glu79ValfsTer7) n.232+12760_232+12761insTTTAT c.205-8742_205-8741insTTTAT (n.205-8742_205-8741insTTTAT) | gnomAD v4 |
| 8 | g.63073057_63073058insAAAAAAAAAA | CA1114602930 | TTPA | c.235_236insTTTTTTTTTT (p.Glu79ValfsTer15) n.232+12760_232+12761insTTTTTTTTTT c.205-8742_205-8741insTTTTTTTTTT (n.205-8742_205-8741insTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073058C>A | CA371333906 | TTPA | c.235G>T (p.Glu79Ter) n.232+12760G>T c.205-8742G>T (n.205-8742G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073058C= | CA1788938366 | TTPA | c.235G= (p.Glu79=) n.232+12760G= c.205-8742G= (n.205-8742G=) | |
| 8 | g.63073058C>G | CA371333905 | TTPA | c.235G>C (p.Glu79Gln) n.232+12760G>C c.205-8742G>C (n.205-8742G>C) | gnomAD v4 |
| 8 | g.63073058C>T | CA371333904 | TTPA | c.235G>A (p.Glu79Lys) n.232+12760G>A c.205-8742G>A (n.205-8742G>A) | dbSNP gnomAD v2 |
| 8 | g.63073058_63073061del | CA1114602938 | TTPA | c.232_235del (p.Ala78AsnfsTer5) n.232+12757_232+12760del c.205-8745_205-8742del (n.205-8745_205-8742del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073058_63073063del | CA581999000 | TTPA | c.230_235del (p.Arg77_Glu79delinsLys) n.232+12755_232+12760del c.205-8747_205-8742del (n.205-8747_205-8742del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073058_63073066del | CA581999003 | TTPA | c.227_235del (p.Trp76Ter) n.232+12752_232+12760del c.205-8750_205-8742del (n.205-8750_205-8742del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073059_63073066del | CA2780587763 | TTPA | c.228_235del (p.Trp76Ter) n.232+12753_232+12760del c.205-8749_205-8742del (n.205-8749_205-8742del) | |
| 8 | g.63073059del | CA1114602949 | TTPA | c.234del (p.Glu79AsnfsTer5) n.232+12759del c.205-8743del (n.205-8743del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073059T>A | CA461144544 | TTPA | c.234A>T (p.Ala78=) n.232+12759A>T c.205-8743A>T (n.205-8743A>T) | gnomAD v3 gnomAD v4 |
| 8 | g.63073059T>C | CA461144543 | TTPA | c.234A>G (p.Ala78=) n.232+12759A>G c.205-8743A>G (n.205-8743A>G) | |
| 8 | g.63073059T>G | CA461144542 | TTPA | c.234A>C (p.Ala78=) n.232+12759A>C c.205-8743A>C (n.205-8743A>C) | |
| 8 | g.63073060del | CA2687441797 | TTPA | c.233del (p.Ala78GlufsTer6) n.232+12758del c.205-8744del (n.205-8744del) | gnomAD v4 |
| 8 | g.63073060G>A | CA371333907 | TTPA | c.233C>T (p.Ala78Val) n.232+12758C>T c.205-8744C>T (n.205-8744C>T) | gnomAD v3 gnomAD v4 |
| 8 | g.63073060G>C | CA371333908 | TTPA | c.233C>G (p.Ala78Gly) n.232+12758C>G c.205-8744C>G (n.205-8744C>G) | gnomAD v3 gnomAD v4 |
| 8 | g.63073060G= | CA1788938367 | TTPA | c.233C= (p.Ala78=) n.232+12758C= c.205-8744C= (n.205-8744C=) | |
| 8 | g.63073060G>T | CA371333909 | TTPA | c.233C>A (p.Ala78Glu) n.232+12758C>A c.205-8744C>A (n.205-8744C>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63073060_63073061del | CA2780587770 | TTPA | c.232_233del (p.Ala78ArgfsTer12) n.232+12757_232+12758del c.205-8745_205-8744del (n.205-8745_205-8744del) | |
| 8 | g.63073060_63073063del | CA1114602958 | TTPA | c.230_233del (p.Arg77LysfsTer6) n.232+12755_232+12758del c.205-8747_205-8744del (n.205-8747_205-8744del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073060_63073066del | CA1114602964 | TTPA | c.227_233del (p.Trp76Ter) n.232+12752_232+12758del c.205-8750_205-8744del (n.205-8750_205-8744del) | gnomAD v3 gnomAD v4 |
| 8 | g.63073061C>A | CA371333910 | TTPA | c.232G>T (p.Ala78Ser) n.232+12757G>T c.205-8745G>T (n.205-8745G>T) | |
| 8 | g.63073061C>G | CA371333911 | TTPA | c.232G>C (p.Ala78Pro) n.232+12757G>C c.205-8745G>C (n.205-8745G>C) | |
| 8 | g.63073061C>T | CA371333912 | TTPA | c.232G>A (p.Ala78Thr) n.232+12757G>A c.205-8745G>A (n.205-8745G>A) | |
| 8 | g.63073062_63073066del | CA2687441798 | TTPA | c.228_232del (p.Trp76CysfsTer13) n.232+12753_232+12757del c.205-8749_205-8745del (n.205-8749_205-8745del) | gnomAD v4 |
| 8 | g.63073061_63073062insCG | CA2687441799 | TTPA | c.231_232insCG (p.Ala78ArgfsTer7) n.232+12756_232+12757insCG c.205-8746_205-8745insCG (n.205-8746_205-8745insCG) | gnomAD v4 |
| 8 | g.63073061_63073062insGTA | CA1114602974 | TTPA | c.231_232insTAC (p.Arg77_Ala78insTyr) n.232+12756_232+12757insTAC c.205-8746_205-8745insTAC (n.205-8746_205-8745insTAC) | gnomAD v3 gnomAD v4 |
| 8 | g.63073061_63073062insAAAA | CA1114602975 | TTPA | c.231_232insTTTT (p.Ala78PhefsTer14) n.232+12756_232+12757insTTTT c.205-8746_205-8745insTTTT (n.205-8746_205-8745insTTTT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073061_63073062insCGGA | CA1114602972 | TTPA | c.231_232insTCCG (p.Ala78SerfsTer14) n.232+12756_232+12757insTCCG c.205-8746_205-8745insTCCG (n.205-8746_205-8745insTCCG) | gnomAD v3 gnomAD v4 |
| 8 | g.63073061_63073062insCGTA | CA1114602976 | TTPA | c.231_232insTACG (p.Ala78TyrfsTer14) n.232+12756_232+12757insTACG c.205-8746_205-8745insTACG (n.205-8746_205-8745insTACG) | gnomAD v3 gnomAD v4 |
| 8 | g.63073062T>A | CA371333913 | TTPA | c.231A>T (p.Arg77Ser) n.232+12756A>T c.205-8746A>T (n.205-8746A>T) | gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.63073062T>C | CA461144545 | TTPA | c.231A>G (p.Arg77=) n.232+12756A>G c.205-8746A>G (n.205-8746A>G) | |
| 8 | g.63073062T>G | CA371333914 | TTPA | c.231A>C (p.Arg77Ser) n.232+12756A>C c.205-8746A>C (n.205-8746A>C) | |
| 8 | g.63073062_63073063insAAAAA | CA1114602980 | TTPA | c.230_231insTTTTT (p.Arg77SerfsTer3) n.232+12755_232+12756insTTTTT c.205-8747_205-8746insTTTTT (n.205-8747_205-8746insTTTTT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073063C>A | CA371333915 | TTPA | c.230G>T (p.Arg77Ile) n.232+12755G>T c.205-8747G>T (n.205-8747G>T) | gnomAD v3 gnomAD v4 |
| 8 | g.63073063C= | CA1788938368 | TTPA | c.230G= (p.Arg77=) n.232+12755G= c.205-8747G= (n.205-8747G=) | |
| 8 | g.63073063C>G | CA371333916 | TTPA | c.230G>C (p.Arg77Thr) n.232+12755G>C c.205-8747G>C (n.205-8747G>C) | |
| 8 | g.63073063C>T | CA371333917 | TTPA | c.230G>A (p.Arg77Lys) n.232+12755G>A c.205-8747G>A (n.205-8747G>A) | gnomAD v4 |
| 8 | g.63073065_63073069del | CA2780587780 | TTPA | c.226_230del (p.Trp76SerfsTer13) n.232+12751_232+12755del c.205-8751_205-8747del (n.205-8751_205-8747del) | |
| 8 | g.63073063_63073064insAA | CA2687441800 | TTPA | c.229_230insTT (p.Arg77IlefsTer8) n.232+12754_232+12755insTT c.205-8748_205-8747insTT (n.205-8748_205-8747insTT) | gnomAD v4 |
| 8 | g.63073063_63073064insAAAA | CA1114602990 | TTPA | c.229_230insTTTT (p.Arg77IlefsTer15) n.232+12754_232+12755insTTTT c.205-8748_205-8747insTTTT (n.205-8748_205-8747insTTTT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073063_63073064insAAAAA | CA1114602992 | TTPA | c.229_230insTTTTT (p.Arg77IlefsTer9) n.232+12754_232+12755insTTTTT c.205-8748_205-8747insTTTTT (n.205-8748_205-8747insTTTTT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073063_63073064insAAAAAA | CA581999007 | TTPA | c.229_230insTTTTTT (p.Arg77IlefsTer3) n.232+12754_232+12755insTTTTTT c.205-8748_205-8747insTTTTTT (n.205-8748_205-8747insTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073063_63073064insATTAAAAAA | CA1114602996 | TTPA | c.229_230insTTTTTTAAT (p.Arg77IlefsTer3) n.232+12754_232+12755insTTTTTTAAT c.205-8748_205-8747insTTTTTTAAT (n.205-8748_205-8747insTTTTTTAAT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073063_63073064insATTATAAAA | CA2530936305 | TTPA | c.229_230insTTTTATAAT (p.Arg77IlefsTer3) n.232+12754_232+12755insTTTTATAAT c.205-8748_205-8747insTTTTATAAT (n.205-8748_205-8747insTTTTATAAT) | |
| 8 | g.63073063_63073064insATTAAAAAAAAAAA | CA2780587786 | TTPA | c.229_230insTTTTTTTTTTTAAT (p.Arg77IlefsTer12) n.232+12754_232+12755insTTTTTTTTTTTAAT c.205-8748_205-8747insTTTTTTTTTTTAAT (n.205-8748_205-8747insTTTTTTTTTTTAAT) | |
| 8 | g.63073064T>A | CA371333918 | TTPA | c.229A>T (p.Arg77Ter) n.232+12754A>T c.205-8748A>T (n.205-8748A>T) | dbSNP |
| 8 | g.63073064T>C | CA371333919 | TTPA | c.229A>G (p.Arg77Gly) n.232+12754A>G c.205-8748A>G (n.205-8748A>G) | |
| 8 | g.63073064T>G | CA461144546 | TTPA | c.229A>C (p.Arg77=) n.232+12754A>C c.205-8748A>C (n.205-8748A>C) | |
| 8 | g.63073064T= | CA1788938369 | TTPA | c.229A= (p.Arg77=) n.232+12754A= c.205-8748A= (n.205-8748A=) | |
| 8 | g.63073065_63073066insATTAAAAAATC | CA2780587785 | TTPA | c.229_230insTTTTTTAATGA (p.Arg77IlefsTer3) n.232+12754_232+12755insTTTTTTAATGA c.205-8748_205-8747insTTTTTTAATGA (n.205-8748_205-8747insTTTTTTAATGA) | |
| 8 | g.63073064_63073066delinsAAT | CA658822189 | TTPA | c.227_229delinsATT (p.Trp76TyrfsTer2) n.232+12752_232+12754delinsATT c.205-8750_205-8748delinsATT (n.205-8750_205-8748delinsATT) | ClinVar dbSNP |
| 8 | g.63073064_63073066delinsTCC | CA1788938370 | TTPA | c.227_229delinsGGA (p.Trp76=) n.232+12752_232+12754delinsGGA c.205-8750_205-8748delinsGGA (n.205-8750_205-8748delinsGGA) | |
| 8 | g.63073064_63073065insAAAAAAA | CA2687441801 | TTPA | c.228_229insTTTTTTT (p.Arg77PhefsTer3) n.232+12753_232+12754insTTTTTTT c.205-8749_205-8748insTTTTTTT (n.205-8749_205-8748insTTTTTTT) | gnomAD v4 |
| 8 | g.63073065C>A | CA371333921 | TTPA | c.228G>T (p.Trp76Cys) n.232+12753G>T c.205-8749G>T (n.205-8749G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073065C= | CA1788938371 | TTPA | c.228G= (p.Trp76=) n.232+12753G= c.205-8749G= (n.205-8749G=) | |
| 8 | g.63073065C>G | CA371333922 | TTPA | c.228G>C (p.Trp76Cys) n.232+12753G>C c.205-8749G>C (n.205-8749G>C) | |
| 8 | g.63073065C>T | CA371333920 | TTPA | c.228G>A (p.Trp76Ter) n.232+12753G>A c.205-8749G>A (n.205-8749G>A) | dbSNP gnomAD v4 |
| 8 | g.63073065_63073066del | CA2687441803 | TTPA | c.227_228del (p.Trp76Ter) n.232+12752_232+12753del c.205-8750_205-8749del (n.205-8750_205-8749del) | gnomAD v4 |
| 8 | g.63073066del | CA2687441802 | TTPA | c.228del (p.Trp76Ter) n.232+12753del c.205-8749del (n.205-8749del) | gnomAD v4 |
| 8 | g.63073066C>A | CA371333923 | TTPA | c.227G>T (p.Trp76Leu) n.232+12752G>T c.205-8750G>T (n.205-8750G>T) | gnomAD v3 gnomAD v4 |
| 8 | g.63073066C= | CA1788938372 | TTPA | c.227G= (p.Trp76=) n.232+12752G= c.205-8750G= (n.205-8750G=) | |
| 8 | g.63073066C>G | CA371333925 | TTPA | c.227G>C (p.Trp76Ser) n.232+12752G>C c.205-8750G>C (n.205-8750G>C) | |
| 8 | g.63073066C>T | CA371333924 | TTPA | c.227G>A (p.Trp76Ter) n.232+12752G>A c.205-8750G>A (n.205-8750G>A) | dbSNP gnomAD v4 |
| 8 | g.63073067A>C | CA371333926 | TTPA | c.226T>G (p.Trp76Gly) n.232+12751T>G c.205-8751T>G (n.205-8751T>G) | |
| 8 | g.63073067A>G | CA371333927 | TTPA | c.226T>C (p.Trp76Arg) n.232+12751T>C c.205-8751T>C (n.205-8751T>C) | |
| 8 | g.63073067A>T | CA371333928 | TTPA | c.226T>A (p.Trp76Arg) n.232+12751T>A c.205-8751T>A (n.205-8751T>A) | gnomAD v4 |
| 8 | g.63073067_63073068insAAAAAAAA | CA2780587797 | TTPA | c.226_227insTTTTTTTT (p.Trp76PhefsTer11) n.232+12751_232+12752insTTTTTTTT c.205-8751_205-8750insTTTTTTTT (n.205-8751_205-8750insTTTTTTTT) | |
| 8 | g.63073067_63073068insAAAAAAAAA | CA581999011 | TTPA | c.226_227insTTTTTTTTT (p.Lys75_Trp76insPhePhePhe) n.232+12751_232+12752insTTTTTTTTT c.205-8751_205-8750insTTTTTTTTT (n.205-8751_205-8750insTTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073067_63073068insAAAAATAAA | CA1114603006 | TTPA | c.226_227insTTATTTTTT (p.Lys75_Trp76insPheIlePhe) n.232+12751_232+12752insTTATTTTTT c.205-8751_205-8750insTTATTTTTT (n.205-8751_205-8750insTTATTTTTT) | gnomAD v3 gnomAD v4 |
| 8 | g.63073068C>A | CA371333929 | TTPA | c.225G>T (p.Lys75Asn) n.232+12750G>T c.205-8752G>T (n.205-8752G>T) | gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.63073068C>G | CA371333930 | TTPA | c.225G>C (p.Lys75Asn) n.232+12750G>C c.205-8752G>C (n.205-8752G>C) | |
| 8 | g.63073068C>T | CA461144547 | TTPA | c.225G>A (p.Lys75=) n.232+12750G>A c.205-8752G>A (n.205-8752G>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63073069T>A | CA371333931 | TTPA | c.224A>T (p.Lys75Met) n.232+12749A>T c.205-8753A>T (n.205-8753A>T) | |
| 8 | g.63073069T>C | CA371333932 | TTPA | c.224A>G (p.Lys75Arg) n.232+12749A>G c.205-8753A>G (n.205-8753A>G) | dbSNP COSMIC |
| 8 | g.63073069T>G | CA371333933 | TTPA | c.224A>C (p.Lys75Thr) n.232+12749A>C c.205-8753A>C (n.205-8753A>C) | |
| 8 | g.63073069T= | CA1788938373 | TTPA | c.224A= (p.Lys75=) n.232+12749A= c.205-8753A= (n.205-8753A=) | |
| 8 | g.63073070del | CA2579176147 | TTPA | c.224del (p.Lys75SerfsTer9) n.232+12749del c.205-8753del (n.205-8753del) | |
| 8 | g.63073069_63073070insAAAAAAAAAAAA | CA2687441804 | TTPA | c.223_224insTTTTTTTTTTTT (p.Lys75IlefsTer5) n.232+12748_232+12749insTTTTTTTTTTTT c.205-8754_205-8753insTTTTTTTTTTTT (n.205-8754_205-8753insTTTTTTTTTTTT) | gnomAD v4 |
| 8 | g.63073070T>A | CA371333934 | TTPA | c.223A>T (p.Lys75Ter) n.232+12748A>T c.205-8754A>T (n.205-8754A>T) | ClinVar |
| 8 | g.63073070T>C | CA371333935 | TTPA | c.223A>G (p.Lys75Glu) n.232+12748A>G c.205-8754A>G (n.205-8754A>G) | gnomAD v3 gnomAD v4 |
| 8 | g.63073070T>G | CA371333936 | TTPA | c.223A>C (p.Lys75Gln) n.232+12748A>C c.205-8754A>C (n.205-8754A>C) | gnomAD v3 gnomAD v4 |
| 8 | g.63073071A= | CA1788938374 | TTPA | c.222T= (p.Tyr74=) n.232+12747T= c.205-8755T= (n.205-8755T=) | |
| 8 | g.63073071A>C | CA371333937 | TTPA | c.222T>G (p.Tyr74Ter) n.232+12747T>G c.205-8755T>G (n.205-8755T>G) | gnomAD v3 gnomAD v4 |
| 8 | g.63073071A>G | CA4763294 | TTPA | c.222T>C (p.Tyr74=) n.232+12747T>C c.205-8755T>C (n.205-8755T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073071A>T | CA371333938 | TTPA | c.222T>A (p.Tyr74Ter) n.232+12747T>A c.205-8755T>A (n.205-8755T>A) | ClinVar gnomAD v4 |
| 8 | g.63073072T>A | CA371333940 | TTPA | c.221A>T (p.Tyr74Phe) n.232+12746A>T c.205-8756A>T (n.205-8756A>T) | |
| 8 | g.63073072T>C | CA4763295 | TTPA | c.221A>G (p.Tyr74Cys) n.232+12746A>G c.205-8756A>G (n.205-8756A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073072T>G | CA371333939 | TTPA | c.221A>C (p.Tyr74Ser) n.232+12746A>C c.205-8756A>C (n.205-8756A>C) | |
| 8 | g.63073072T= | CA1788938375 | TTPA | c.221A= (p.Tyr74=) n.232+12746A= c.205-8756A= (n.205-8756A=) | |
| 8 | g.63073073A= | CA1788938376 | TTPA | c.220T= (p.Tyr74=) n.232+12745T= c.205-8757T= (n.205-8757T=) | |
| 8 | g.63073073A>C | CA371333941 | TTPA | c.220T>G (p.Tyr74Asp) n.232+12745T>G c.205-8757T>G (n.205-8757T>G) | gnomAD v3 gnomAD v4 |
| 8 | g.63073073A>G | CA178387689 | TTPA | c.220T>C (p.Tyr74His) n.232+12745T>C c.205-8757T>C (n.205-8757T>C) | dbSNP gnomAD v4 |
| 8 | g.63073073A>T | CA371333942 | TTPA | c.220T>A (p.Tyr74Asn) n.232+12745T>A c.205-8757T>A (n.205-8757T>A) | |
| 8 | g.63073074dup | CA2780587808 | TTPA | c.220dup (p.Tyr74LeufsTer2) n.232+12745dup c.205-8757dup (n.205-8757dup) | |
| 8 | g.63073074A>C | CA371333943 | TTPA | c.219T>G (p.Tyr73Ter) n.232+12744T>G c.205-8758T>G (n.205-8758T>G) | |
| 8 | g.63073074A>G | CA461144548 | TTPA | c.219T>C (p.Tyr73=) n.232+12744T>C c.205-8758T>C (n.205-8758T>C) | gnomAD v3 gnomAD v4 |
| 8 | g.63073074A>T | CA371333944 | TTPA | c.219T>A (p.Tyr73Ter) n.232+12744T>A c.205-8758T>A (n.205-8758T>A) | |
| 8 | g.63073075_63073076dup | CA4763296 | TTPA | c.218_219dup (p.Tyr74IlefsTer11) n.232+12743_232+12744dup c.205-8759_205-8758dup (n.205-8759_205-8758dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073075T>A | CA371333945 | TTPA | c.218A>T (p.Tyr73Phe) n.232+12743A>T c.205-8759A>T (n.205-8759A>T) | |
| 8 | g.63073075T>C | CA4763297 | TTPA | c.218A>G (p.Tyr73Cys) n.232+12743A>G c.205-8759A>G (n.205-8759A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.63073075T>G | CA371333946 | TTPA | c.218A>C (p.Tyr73Ser) n.232+12743A>C c.205-8759A>C (n.205-8759A>C) | |
| 8 | g.63073075T= | CA1788938377 | TTPA | c.218A= (p.Tyr73=) n.232+12743A= c.205-8759A= (n.205-8759A=) | |
| 8 | g.63073076A>C | CA371333947 | TTPA | c.217T>G (p.Tyr73Asp) n.232+12742T>G c.205-8760T>G (n.205-8760T>G) | |
| 8 | g.63073076A>G | CA371333948 | TTPA | c.217T>C (p.Tyr73His) n.232+12742T>C c.205-8760T>C (n.205-8760T>C) | gnomAD v4 COSMIC |
| 8 | g.63073076A>T | CA371333949 | TTPA | c.217T>A (p.Tyr73Asn) n.232+12742T>A c.205-8760T>A (n.205-8760T>A) | |
| 8 | g.63073077G>A | CA461144549 | TTPA | c.216C>T (p.Asn72=) n.232+12741C>T c.205-8761C>T (n.205-8761C>T) | ClinVar |
| 8 | g.63073077G>C | CA371333950 | TTPA | c.216C>G (p.Asn72Lys) n.232+12741C>G c.205-8761C>G (n.205-8761C>G) | |
| 8 | g.63073077G>T | CA371333951 | TTPA | c.216C>A (p.Asn72Lys) n.232+12741C>A c.205-8761C>A (n.205-8761C>A) | |
| 8 | g.63073077_63073078delinsGT | CA1788938378 | TTPA | c.215_216delinsAC (p.Asn72=) n.232+12740_232+12741delinsAC c.205-8762_205-8761delinsAC (n.205-8762_205-8761delinsAC) | |
| 8 | g.63073078T>A | CA371333953 | TTPA | c.215A>T (p.Asn72Ile) n.232+12740A>T c.205-8762A>T (n.205-8762A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073078T>C | CA371333954 | TTPA | c.215A>G (p.Asn72Ser) n.232+12740A>G c.205-8762A>G (n.205-8762A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073078T>G | CA371333952 | TTPA | c.215A>C (p.Asn72Thr) n.232+12740A>C c.205-8762A>C (n.205-8762A>C) | |
| 8 | g.63073078T= | CA1788938380 | TTPA | c.215A= (p.Asn72=) n.232+12740A= c.205-8762A= (n.205-8762A=) | |
| 8 | g.63073078_63073079delinsG | CA2695199889 | TTPA | c.214_215delinsC (p.Asn72ProfsTer12) n.232+12739_232+12740delinsC c.205-8763_205-8762delinsC (n.205-8763_205-8762delinsC) | ClinVar |
| 8 | g.63073083dup | CA1114603028 | TTPA | c.215dup (p.Asn72LysfsTer4) n.232+12740dup c.205-8762dup (n.205-8762dup) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63073083del | CA1788938379 | TTPA | c.215del (p.Asn72ThrfsTer12) n.232+12740del c.205-8762del (n.205-8762del) | dbSNP |
| 8 | g.63073079_63073083del | CA2780587819 | TTPA | c.211_215del (p.Lys71LeufsTer3) n.232+12736_232+12740del c.205-8766_205-8762del (n.205-8766_205-8762del) | |
| 8 | g.63073079T>A | CA371333955 | TTPA | c.214A>T (p.Asn72Tyr) n.232+12739A>T c.205-8763A>T (n.205-8763A>T) | |
| 8 | g.63073079T>C | CA371333956 | TTPA | c.214A>G (p.Asn72Asp) n.232+12739A>G c.205-8763A>G (n.205-8763A>G) | |
| 8 | g.63073079T>G | CA371333957 | TTPA | c.214A>C (p.Asn72His) n.232+12739A>C c.205-8763A>C (n.205-8763A>C) | dbSNP |
| 8 | g.63073079T= | CA1788938381 | TTPA | c.214A= (p.Asn72=) n.232+12739A= c.205-8763A= (n.205-8763A=) | |
| 8 | g.63073080T>A | CA371333958 | TTPA | c.213A>T (p.Lys71Asn) n.232+12738A>T c.205-8764A>T (n.205-8764A>T) | |
| 8 | g.63073080T>C | CA461144550 | TTPA | c.213A>G (p.Lys71=) n.232+12738A>G c.205-8764A>G (n.205-8764A>G) | dbSNP COSMIC |
| 8 | g.63073080T>G | CA371333959 | TTPA | c.213A>C (p.Lys71Asn) n.232+12738A>C c.205-8764A>C (n.205-8764A>C) | |
| 8 | g.63073080T= | CA1788938382 | TTPA | c.213A= (p.Lys71=) n.232+12738A= c.205-8764A= (n.205-8764A=) | |
| 8 | g.63073081T>A | CA371333960 | TTPA | c.212A>T (p.Lys71Ile) n.232+12737A>T c.205-8765A>T (n.205-8765A>T) | |
| 8 | g.63073081T>C | CA371333961 | TTPA | c.212A>G (p.Lys71Arg) n.232+12737A>G c.205-8765A>G (n.205-8765A>G) | gnomAD v3 gnomAD v4 |
| 8 | g.63073081T>G | CA371333962 | TTPA | c.212A>C (p.Lys71Thr) n.232+12737A>C c.205-8765A>C (n.205-8765A>C) | |
| 8 | g.63073082T>A | CA371333963 | TTPA | c.211A>T (p.Lys71Ter) n.232+12736A>T c.205-8766A>T (n.205-8766A>T) | |
| 8 | g.63073082T>C | CA4763298 | TTPA | c.211A>G (p.Lys71Glu) n.232+12736A>G c.205-8766A>G (n.205-8766A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073082T>G | CA371333964 | TTPA | c.211A>C (p.Lys71Gln) n.232+12736A>C c.205-8766A>C (n.205-8766A>C) | |
| 8 | g.63073082T= | CA1788938383 | TTPA | c.211A= (p.Lys71=) n.232+12736A= c.205-8766A= (n.205-8766A=) | |
| 8 | g.63073083T>A | CA461144551 | TTPA | c.210A>T (p.Leu70=) n.232+12735A>T c.205-8767A>T (n.205-8767A>T) | |
| 8 | g.63073083T>C | CA461144552 | TTPA | c.210A>G (p.Leu70=) n.232+12735A>G c.205-8767A>G (n.205-8767A>G) | |
| 8 | g.63073083T>G | CA461144553 | TTPA | c.210A>C (p.Leu70=) n.232+12735A>C c.205-8767A>C (n.205-8767A>C) | |
| 8 | g.63073084A>C | CA371333965 | TTPA | c.209T>G (p.Leu70Arg) n.232+12734T>G c.205-8768T>G (n.205-8768T>G) | |
| 8 | g.63073084A>G | CA371333966 | TTPA | c.209T>C (p.Leu70Pro) n.232+12734T>C c.205-8768T>C (n.205-8768T>C) | |
| 8 | g.63073084A>T | CA371333967 | TTPA | c.209T>A (p.Leu70Gln) n.232+12734T>A c.205-8768T>A (n.205-8768T>A) | |
| 8 | g.63073085G>A | CA461144554 | TTPA | c.208C>T (p.Leu70=) n.232+12733C>T c.205-8769C>T (n.205-8769C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073085G>C | CA371333968 | TTPA | c.208C>G (p.Leu70Val) n.232+12733C>G c.205-8769C>G (n.205-8769C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073085G= | CA1788938384 | TTPA | c.208C= (p.Leu70=) n.232+12733C= c.205-8769C= (n.205-8769C=) | |
| 8 | g.63073085G>T | CA371333969 | TTPA | c.208C>A (p.Leu70Ile) n.232+12733C>A c.205-8769C>A (n.205-8769C>A) | |
| 8 | g.63073086T>A | CA371333970 | TTPA | c.207A>T (p.Leu69Phe) n.232+12732A>T c.205-8770A>T (n.205-8770A>T) | |
| 8 | g.63073086T>C | CA461144555 | TTPA | c.207A>G (p.Leu69=) n.232+12732A>G c.205-8770A>G (n.205-8770A>G) | ClinVar |
| 8 | g.63073086T>G | CA371333971 | TTPA | c.207A>C (p.Leu69Phe) n.232+12732A>C c.205-8770A>C (n.205-8770A>C) | |
| 8 | g.63073087A>C | CA371333972 | TTPA | c.206T>G (p.Leu69Ter) n.232+12731T>G c.205-8771T>G (n.205-8771T>G) | |
| 8 | g.63073087A>G | CA371333973 | TTPA | c.206T>C (p.Leu69Ser) n.232+12731T>C c.205-8771T>C (n.205-8771T>C) | |
| 8 | g.63073087A>T | CA371333974 | TTPA | c.206T>A (p.Leu69Ter) n.232+12731T>A c.205-8771T>A (n.205-8771T>A) | |
| 8 | g.63073088del | CA2687441805 | TTPA | c.206del (p.Leu69TyrfsTer2) n.232+12731del c.205-8771del (n.205-8771del) | gnomAD v4 |
| 8 | g.63073087_63073088insC | CA2780587821 | TTPA | c.205_206insG (p.Leu69CysfsTer7) n.232+12730_232+12731insG c.205-8772_205-8771insG (n.205-8772_205-8771insG) | |
| 8 | g.63073088A= | CA1788938385 | TTPA | c.205T= (p.Leu69=) n.232+12730T= c.205-8772T= (n.205-8772T=) | |
| 8 | g.63073088A>C | CA371333975 | TTPA | c.205T>G (p.Leu69Val) n.232+12730T>G c.205-8772T>G (n.205-8772T>G) | |
| 8 | g.63073088A>G | CA461144556 | TTPA | c.205T>C (p.Leu69=) n.232+12730T>C c.205-8772T>C (n.205-8772T>C) | |
| 8 | g.63073088A>T | CA371333976 | TTPA | c.205T>A (p.Leu69Ile) n.232+12730T>A c.205-8772T>A (n.205-8772T>A) | |
| 8 | g.63073088_63073089insG | CA4763299 | TTPA | c.205-1_205insC (n.205-1_205insC) n.232+12729_232+12730insC c.205-8773_205-8772insC (n.205-8773_205-8772insC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073089C>A | CA10590095 | TTPA | c.205-1G>T (n.205-1G>T) n.232+12729G>T c.205-8773G>T (n.205-8773G>T) | ClinVar dbSNP |
| 8 | g.63073089C= | CA1788938386 | TTPA | c.205-1G= (n.205-1G=) n.232+12729G= c.205-8773G= (n.205-8773G=) | |
| 8 | g.63073089C>G | CA16041183 | TTPA | c.205-1G>C (n.205-1G>C) n.232+12729G>C c.205-8773G>C (n.205-8773G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63073089C>T | CA371333977 | TTPA | c.205-1G>A (n.205-1G>A) n.232+12729G>A c.205-8773G>A (n.205-8773G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63073090T>A | CA371333978 | TTPA | c.205-2A>T (n.205-2A>T) n.232+12728A>T c.205-8774A>T (n.205-8774A>T) | |
| 8 | g.63073090T>C | CA4763300 | TTPA | c.205-2A>G (n.205-2A>G) n.232+12728A>G c.205-8774A>G (n.205-8774A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.63073090T>G | CA371333979 | TTPA | c.205-2A>C (n.205-2A>C) n.232+12728A>C c.205-8774A>C (n.205-8774A>C) | |
| 8 | g.63073090T= | CA1788938387 | TTPA | c.205-2A= (n.205-2A=) n.232+12728A= c.205-8774A= (n.205-8774A=) |