Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121137500C>A | CA477382436 | TBCEL-TECTA,TECTA | c.3021C>A (p.Pro1007=) c.328C>A c.3978C>A (p.Pro1326=) | |
11 | g.121137500C= | CA2004733702 | TBCEL-TECTA,TECTA | c.3021C= (p.Pro1007=) c.328C= c.3978C= (p.Pro1326=) | |
11 | g.121137500C>G | CA477382437 | TBCEL-TECTA,TECTA | c.3021C>G (p.Pro1007=) c.328C>G c.3978C>G (p.Pro1326=) | |
11 | g.121137500C>T | CA6327140 | TBCEL-TECTA,TECTA | c.3021C>T (p.Pro1007=) c.328C>T c.3978C>T (p.Pro1326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121137501A= | CA2004733704 | TBCEL-TECTA,TECTA | c.3022A= (p.Ile1008=) c.329A= c.3979A= (p.Ile1327=) | |
11 | g.121137501A>C | CA383018509 | TBCEL-TECTA,TECTA | c.3022A>C (p.Ile1008Leu) c.329A>C c.3979A>C (p.Ile1327Leu) | |
11 | g.121137501A>G | CA383018511 | TBCEL-TECTA,TECTA | c.3022A>G (p.Ile1008Val) c.329A>G c.3979A>G (p.Ile1327Val) | dbSNP |
11 | g.121137501A>T | CA383018513 | TBCEL-TECTA,TECTA | c.3022A>T (p.Ile1008Phe) c.329A>T c.3979A>T (p.Ile1327Phe) | |
11 | g.121137502T>A | CA383018515 | TBCEL-TECTA,TECTA | c.3023T>A (p.Ile1008Asn) c.330T>A c.3980T>A (p.Ile1327Asn) | |
11 | g.121137502T>C | CA383018517 | TBCEL-TECTA,TECTA | c.3023T>C (p.Ile1008Thr) c.330T>C c.3980T>C (p.Ile1327Thr) | |
11 | g.121137502T>G | CA383018519 | TBCEL-TECTA,TECTA | c.3023T>G (p.Ile1008Ser) c.330T>G c.3980T>G (p.Ile1327Ser) | |
11 | g.121137503C>A | CA6327141 | TBCEL-TECTA,TECTA | c.3024C>A (p.Ile1008=) c.331C>A c.3981C>A (p.Ile1327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137503C= | CA2004733705 | TBCEL-TECTA,TECTA | c.3024C= (p.Ile1008=) c.331C= c.3981C= (p.Ile1327=) | |
11 | g.121137503C>G | CA383018522 | TBCEL-TECTA,TECTA | c.3024C>G (p.Ile1008Met) c.331C>G c.3981C>G (p.Ile1327Met) | |
11 | g.121137503C>T | CA477382445 | TBCEL-TECTA,TECTA | c.3024C>T (p.Ile1008=) c.331C>T c.3981C>T (p.Ile1327=) | |
11 | g.121137504T>A | CA383018525 | TBCEL-TECTA,TECTA | c.3025T>A (p.Cys1009Ser) c.332T>A c.3982T>A (p.Cys1328Ser) | |
11 | g.121137504T>C | CA383018527 | TBCEL-TECTA,TECTA | c.3025T>C (p.Cys1009Arg) c.332T>C c.3982T>C (p.Cys1328Arg) | |
11 | g.121137504T>G | CA383018528 | TBCEL-TECTA,TECTA | c.3025T>G (p.Cys1009Gly) c.332T>G c.3982T>G (p.Cys1328Gly) | |
11 | g.121137505G>A | CA383018535 | TBCEL-TECTA,TECTA | c.3026G>A (p.Cys1009Tyr) c.333G>A c.3983G>A (p.Cys1328Tyr) | |
11 | g.121137505G>C | CA383018533 | TBCEL-TECTA,TECTA | c.3026G>C (p.Cys1009Ser) c.333G>C c.3983G>C (p.Cys1328Ser) | |
11 | g.121137505G>T | CA383018531 | TBCEL-TECTA,TECTA | c.3026G>T (p.Cys1009Phe) c.333G>T c.3983G>T (p.Cys1328Phe) | gnomAD v4 |
11 | g.121137506C>A | CA383018540 | TBCEL-TECTA,TECTA | c.3027C>A (p.Cys1009Ter) c.334C>A c.3984C>A (p.Cys1328Ter) | |
11 | g.121137506C= | CA2004733707 | TBCEL-TECTA,TECTA | c.3027C= (p.Cys1009=) c.334C= c.3984C= (p.Cys1328=) | |
11 | g.121137506C>G | CA383018538 | TBCEL-TECTA,TECTA | c.3027C>G (p.Cys1009Trp) c.334C>G c.3984C>G (p.Cys1328Trp) | |
11 | g.121137506C>T | CA6327142 | TBCEL-TECTA,TECTA | c.3027C>T (p.Cys1009=) c.334C>T c.3984C>T (p.Cys1328=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137507G>A | CA6327143 | TBCEL-TECTA,TECTA | c.3028G>A (p.Val1010Met) c.335G>A c.3985G>A (p.Val1329Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121137507G>C | CA383018546 | TBCEL-TECTA,TECTA | c.3028G>C (p.Val1010Leu) c.335G>C c.3985G>C (p.Val1329Leu) | |
11 | g.121137507G= | CA2004733709 | TBCEL-TECTA,TECTA | c.3028G= (p.Val1010=) c.335G= c.3985G= (p.Val1329=) | |
11 | g.121137507G>T | CA383018545 | TBCEL-TECTA,TECTA | c.3028G>T (p.Val1010Leu) c.335G>T c.3985G>T (p.Val1329Leu) | |
11 | g.121137508T>A | CA383018549 | TBCEL-TECTA,TECTA | c.3029T>A (p.Val1010Glu) c.336T>A c.3986T>A (p.Val1329Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137508T>C | CA383018551 | TBCEL-TECTA,TECTA | c.3029T>C (p.Val1010Ala) c.336T>C c.3986T>C (p.Val1329Ala) | |
11 | g.121137508T>G | CA383018553 | TBCEL-TECTA,TECTA | c.3029T>G (p.Val1010Gly) c.336T>G c.3986T>G (p.Val1329Gly) | |
11 | g.121137508T= | CA2004733711 | TBCEL-TECTA,TECTA | c.3029T= (p.Val1010=) c.336T= c.3986T= (p.Val1329=) | |
11 | g.121137509G>A | CA477382455 | TBCEL-TECTA,TECTA | c.3030G>A (p.Val1010=) c.337G>A c.3987G>A (p.Val1329=) | |
11 | g.121137509G>C | CA477382456 | TBCEL-TECTA,TECTA | c.3030G>C (p.Val1010=) c.337G>C c.3987G>C (p.Val1329=) | |
11 | g.121137509G>T | CA477382459 | TBCEL-TECTA,TECTA | c.3030G>T (p.Val1010=) c.337G>T c.3987G>T (p.Val1329=) | |
11 | g.121137510G>A | CA383018555 | TBCEL-TECTA,TECTA | c.3031G>A (p.Asp1011Asn) c.338G>A c.3988G>A (p.Asp1330Asn) | gnomAD v4 |
11 | g.121137510G>C | CA383018557 | TBCEL-TECTA,TECTA | c.3031G>C (p.Asp1011His) c.338G>C c.3988G>C (p.Asp1330His) | gnomAD v4 |
11 | g.121137510G>T | CA383018559 | TBCEL-TECTA,TECTA | c.3031G>T (p.Asp1011Tyr) c.338G>T c.3988G>T (p.Asp1330Tyr) | COSMIC |
11 | g.121137511A>C | CA383018561 | TBCEL-TECTA,TECTA | c.3032A>C (p.Asp1011Ala) c.339A>C c.3989A>C (p.Asp1330Ala) | |
11 | g.121137511A>G | CA383018563 | TBCEL-TECTA,TECTA | c.3032A>G (p.Asp1011Gly) c.339A>G c.3989A>G (p.Asp1330Gly) | |
11 | g.121137511A>T | CA383018565 | TBCEL-TECTA,TECTA | c.3032A>T (p.Asp1011Val) c.339A>T c.3989A>T (p.Asp1330Val) | |
11 | g.121137512T>A | CA383018566 | TBCEL-TECTA,TECTA | c.3033T>A (p.Asp1011Glu) c.340T>A c.3990T>A (p.Asp1330Glu) | |
11 | g.121137512T>C | CA477382468 | TBCEL-TECTA,TECTA | c.3033T>C (p.Asp1011=) c.340T>C c.3990T>C (p.Asp1330=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137512T>G | CA383018568 | TBCEL-TECTA,TECTA | c.3033T>G (p.Asp1011Glu) c.340T>G c.3990T>G (p.Asp1330Glu) | |
11 | g.121137512T= | CA2004733713 | TBCEL-TECTA,TECTA | c.3033T= (p.Asp1011=) c.340T= c.3990T= (p.Asp1330=) | |
11 | g.121137513A>C | CA383018574 | TBCEL-TECTA,TECTA | c.3034A>C (p.Ser1012Arg) c.341A>C c.3991A>C (p.Ser1331Arg) | |
11 | g.121137513A>G | CA383018570 | TBCEL-TECTA,TECTA | c.3034A>G (p.Ser1012Gly) c.341A>G c.3991A>G (p.Ser1331Gly) | |
11 | g.121137513A>T | CA383018572 | TBCEL-TECTA,TECTA | c.3034A>T (p.Ser1012Cys) c.341A>T c.3991A>T (p.Ser1331Cys) | |
11 | g.121137514G>A | CA383018576 | TBCEL-TECTA,TECTA | c.3035G>A (p.Ser1012Asn) c.342G>A c.3992G>A (p.Ser1331Asn) | |
11 | g.121137514G>C | CA383018578 | TBCEL-TECTA,TECTA | c.3035G>C (p.Ser1012Thr) c.342G>C c.3992G>C (p.Ser1331Thr) | |
11 | g.121137514G>T | CA383018580 | TBCEL-TECTA,TECTA | c.3035G>T (p.Ser1012Ile) c.342G>T c.3992G>T (p.Ser1331Ile) | dbSNP |
11 | g.121137515_121137522del | CA2575008416 | TBCEL-TECTA,TECTA | c.3036_3043del (p.Ser1012ArgfsTer6) c.343_350del c.3993_4000del (p.Ser1331ArgfsTer6) | |
11 | g.121137515C>A | CA383018582 | TBCEL-TECTA,TECTA | c.3036C>A (p.Ser1012Arg) c.343C>A c.3993C>A (p.Ser1331Arg) | |
11 | g.121137515C>G | CA383018584 | TBCEL-TECTA,TECTA | c.3036C>G (p.Ser1012Arg) c.343C>G c.3993C>G (p.Ser1331Arg) | |
11 | g.121137515C>T | CA477382476 | TBCEL-TECTA,TECTA | c.3036C>T (p.Ser1012=) c.343C>T c.3993C>T (p.Ser1331=) | COSMIC |
11 | g.121137516T>A | CA383018587 | TBCEL-TECTA,TECTA | c.3037T>A (p.Cys1013Ser) c.344T>A c.3994T>A (p.Cys1332Ser) | dbSNP gnomAD v4 |
11 | g.121137516T>C | CA383018589 | TBCEL-TECTA,TECTA | c.3037T>C (p.Cys1013Arg) c.344T>C c.3994T>C (p.Cys1332Arg) | |
11 | g.121137516T>G | CA383018590 | TBCEL-TECTA,TECTA | c.3037T>G (p.Cys1013Gly) c.344T>G c.3994T>G (p.Cys1332Gly) | |
11 | g.121137516T= | CA2004733715 | TBCEL-TECTA,TECTA | c.3037T= (p.Cys1013=) c.344T= c.3994T= (p.Cys1332=) | |
11 | g.121137517G>A | CA383018593 | TBCEL-TECTA,TECTA | c.3038G>A (p.Cys1013Tyr) c.345G>A c.3995G>A (p.Cys1332Tyr) | |
11 | g.121137517G>C | CA6327144 | TBCEL-TECTA,TECTA | c.3038G>C (p.Cys1013Ser) c.345G>C c.3995G>C (p.Cys1332Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137517G= | CA2004733716 | TBCEL-TECTA,TECTA | c.3038G= (p.Cys1013=) c.345G= c.3995G= (p.Cys1332=) | |
11 | g.121137517G>T | CA383018595 | TBCEL-TECTA,TECTA | c.3038G>T (p.Cys1013Phe) c.345G>T c.3995G>T (p.Cys1332Phe) | |
11 | g.121137518C>A | CA383018599 | TBCEL-TECTA,TECTA | c.3039C>A (p.Cys1013Ter) c.346C>A c.3996C>A (p.Cys1332Ter) | |
11 | g.121137518C>G | CA383018597 | TBCEL-TECTA,TECTA | c.3039C>G (p.Cys1013Trp) c.346C>G c.3996C>G (p.Cys1332Trp) | |
11 | g.121137518C>T | CA477382483 | TBCEL-TECTA,TECTA | c.3039C>T (p.Cys1013=) c.346C>T c.3996C>T (p.Cys1332=) | COSMIC |
11 | g.121137519T>A | CA383018601 | TBCEL-TECTA,TECTA | c.3040T>A (p.Ser1014Thr) c.347T>A c.3997T>A (p.Ser1333Thr) | |
11 | g.121137519T>C | CA383018603 | TBCEL-TECTA,TECTA | c.3040T>C (p.Ser1014Pro) c.347T>C c.3997T>C (p.Ser1333Pro) | gnomAD v4 |
11 | g.121137519T>G | CA383018605 | TBCEL-TECTA,TECTA | c.3040T>G (p.Ser1014Ala) c.347T>G c.3997T>G (p.Ser1333Ala) | |
11 | g.121137520C>A | CA383018608 | TBCEL-TECTA,TECTA | c.3041C>A (p.Ser1014Tyr) c.348C>A c.3998C>A (p.Ser1333Tyr) | |
11 | g.121137520C>G | CA383018610 | TBCEL-TECTA,TECTA | c.3041C>G (p.Ser1014Cys) c.348C>G c.3998C>G (p.Ser1333Cys) | gnomAD v4 |
11 | g.121137520C>T | CA383018612 | TBCEL-TECTA,TECTA | c.3041C>T (p.Ser1014Phe) c.348C>T c.3998C>T (p.Ser1333Phe) | |
11 | g.121137521T>A | CA477382486 | TBCEL-TECTA,TECTA | c.3042T>A (p.Ser1014=) c.349T>A c.3999T>A (p.Ser1333=) | |
11 | g.121137521T>C | CA477382487 | TBCEL-TECTA,TECTA | c.3042T>C (p.Ser1014=) c.349T>C c.3999T>C (p.Ser1333=) | dbSNP gnomAD v4 |
11 | g.121137521T>G | CA477382490 | TBCEL-TECTA,TECTA | c.3042T>G (p.Ser1014=) c.349T>G c.3999T>G (p.Ser1333=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137521T= | CA2004733718 | TBCEL-TECTA,TECTA | c.3042T= (p.Ser1014=) c.349T= c.3999T= (p.Ser1333=) | |
11 | g.121137522G>A | CA6327146 | TBCEL-TECTA,TECTA | c.3043G>A (p.Glu1015Lys) c.350G>A c.4000G>A (p.Glu1334Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121137522G>C | CA6327145 | TBCEL-TECTA,TECTA | c.3043G>C (p.Glu1015Gln) c.350G>C c.4000G>C (p.Glu1334Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137522G= | CA2004733720 | TBCEL-TECTA,TECTA | c.3043G= (p.Glu1015=) c.350G= c.4000G= (p.Glu1334=) | |
11 | g.121137522G>T | CA383018616 | TBCEL-TECTA,TECTA | c.3043G>T (p.Glu1015Ter) c.350G>T c.4000G>T (p.Glu1334Ter) | |
11 | g.121137523A>C | CA383018619 | TBCEL-TECTA,TECTA | c.3044A>C (p.Glu1015Ala) c.351A>C c.4001A>C (p.Glu1334Ala) | |
11 | g.121137523A>G | CA383018621 | TBCEL-TECTA,TECTA | c.3044A>G (p.Glu1015Gly) c.351A>G c.4001A>G (p.Glu1334Gly) | |
11 | g.121137523A>T | CA383018623 | TBCEL-TECTA,TECTA | c.3044A>T (p.Glu1015Val) c.351A>T c.4001A>T (p.Glu1334Val) | |
11 | g.121137524G>A | CA477382494 | TBCEL-TECTA,TECTA | c.3045G>A (p.Glu1015=) c.352G>A c.4002G>A (p.Glu1334=) | |
11 | g.121137524G>C | CA383018625 | TBCEL-TECTA,TECTA | c.3045G>C (p.Glu1015Asp) c.352G>C c.4002G>C (p.Glu1334Asp) | |
11 | g.121137524G>T | CA383018627 | TBCEL-TECTA,TECTA | c.3045G>T (p.Glu1015Asp) c.352G>T c.4002G>T (p.Glu1334Asp) | |
11 | g.121137525G>A | CA383018630 | TBCEL-TECTA,TECTA | c.3046G>A (p.Gly1016Arg) c.353G>A c.4003G>A (p.Gly1335Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137525G>C | CA383018632 | TBCEL-TECTA,TECTA | c.3046G>C (p.Gly1016Arg) c.353G>C c.4003G>C (p.Gly1335Arg) | |
11 | g.121137525G= | CA2004733721 | TBCEL-TECTA,TECTA | c.3046G= (p.Gly1016=) c.353G= c.4003G= (p.Gly1335=) | |
11 | g.121137525G>T | CA383018631 | TBCEL-TECTA,TECTA | c.3046G>T (p.Gly1016Ter) c.353G>T c.4003G>T (p.Gly1335Ter) | |
11 | g.121137526G>A | CA383018635 | TBCEL-TECTA,TECTA | c.3047G>A (p.Gly1016Glu) c.354G>A c.4004G>A (p.Gly1335Glu) | |
11 | g.121137526G>C | CA383018636 | TBCEL-TECTA,TECTA | c.3047G>C (p.Gly1016Ala) c.354G>C c.4004G>C (p.Gly1335Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137526G= | CA2004733723 | TBCEL-TECTA,TECTA | c.3047G= (p.Gly1016=) c.354G= c.4004G= (p.Gly1335=) | |
11 | g.121137526G>T | CA383018638 | TBCEL-TECTA,TECTA | c.3047G>T (p.Gly1016Val) c.354G>T c.4004G>T (p.Gly1335Val) | |
11 | g.121137527A>C | CA477382502 | TBCEL-TECTA,TECTA | c.3048A>C (p.Gly1016=) c.355A>C c.4005A>C (p.Gly1335=) | |
11 | g.121137527A>G | CA477382505 | TBCEL-TECTA,TECTA | c.3048A>G (p.Gly1016=) c.355A>G c.4005A>G (p.Gly1335=) | |
11 | g.121137527A>T | CA477382504 | TBCEL-TECTA,TECTA | c.3048A>T (p.Gly1016=) c.355A>T c.4005A>T (p.Gly1335=) | |
11 | g.121137528T>A | CA383018640 | TBCEL-TECTA,TECTA | c.3049T>A (p.Cys1017Ser) c.356T>A c.4006T>A (p.Cys1336Ser) | |
11 | g.121137528T>C | CA383018642 | TBCEL-TECTA,TECTA | c.3049T>C (p.Cys1017Arg) c.356T>C c.4006T>C (p.Cys1336Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137528T>G | CA383018643 | TBCEL-TECTA,TECTA | c.3049T>G (p.Cys1017Gly) c.356T>G c.4006T>G (p.Cys1336Gly) | |
11 | g.121137528T= | CA2004733724 | TBCEL-TECTA,TECTA | c.3049T= (p.Cys1017=) c.356T= c.4006T= (p.Cys1336=) | |
11 | g.121137529G>A | CA383018644 | TBCEL-TECTA,TECTA | c.3050G>A (p.Cys1017Tyr) c.357G>A c.4007G>A (p.Cys1336Tyr) | |
11 | g.121137529G>C | CA383018646 | TBCEL-TECTA,TECTA | c.3050G>C (p.Cys1017Ser) c.357G>C c.4007G>C (p.Cys1336Ser) | |
11 | g.121137529G>T | CA383018648 | TBCEL-TECTA,TECTA | c.3050G>T (p.Cys1017Phe) c.357G>T c.4007G>T (p.Cys1336Phe) | |
11 | g.121137530T>A | CA383018649 | TBCEL-TECTA,TECTA | c.3051T>A (p.Cys1017Ter) c.358T>A c.4008T>A (p.Cys1336Ter) | |
11 | g.121137530T>C | CA477382512 | TBCEL-TECTA,TECTA | c.3051T>C (p.Cys1017=) c.358T>C c.4008T>C (p.Cys1336=) | |
11 | g.121137530T>G | CA383018650 | TBCEL-TECTA,TECTA | c.3051T>G (p.Cys1017Trp) c.358T>G c.4008T>G (p.Cys1336Trp) | |
11 | g.121137531C>A | CA383018656 | TBCEL-TECTA,TECTA | c.3052C>A (p.Gln1018Lys) c.359C>A c.4009C>A (p.Gln1337Lys) | |
11 | g.121137531C>G | CA383018658 | TBCEL-TECTA,TECTA | c.3052C>G (p.Gln1018Glu) c.359C>G c.4009C>G (p.Gln1337Glu) | |
11 | g.121137531C>T | CA383018654 | TBCEL-TECTA,TECTA | c.3052C>T (p.Gln1018Ter) c.359C>T c.4009C>T (p.Gln1337Ter) | |
11 | g.121137532A>C | CA383018665 | TBCEL-TECTA,TECTA | c.3053A>C (p.Gln1018Pro) c.360A>C c.4010A>C (p.Gln1337Pro) | |
11 | g.121137532A>G | CA383018661 | TBCEL-TECTA,TECTA | c.3053A>G (p.Gln1018Arg) c.360A>G c.4010A>G (p.Gln1337Arg) | |
11 | g.121137532A>T | CA383018663 | TBCEL-TECTA,TECTA | c.3053A>T (p.Gln1018Leu) c.360A>T c.4010A>T (p.Gln1337Leu) | |
11 | g.121137533G>A | CA477382516 | TBCEL-TECTA,TECTA | c.3054G>A (p.Gln1018=) c.361G>A c.4011G>A (p.Gln1337=) | gnomAD v4 |
11 | g.121137533G>C | CA383018668 | TBCEL-TECTA,TECTA | c.3054G>C (p.Gln1018His) c.361G>C c.4011G>C (p.Gln1337His) | |
11 | g.121137533G>T | CA383018670 | TBCEL-TECTA,TECTA | c.3054G>T (p.Gln1018His) c.361G>T c.4011G>T (p.Gln1337His) | |
11 | g.121137534T>A | CA383018673 | TBCEL-TECTA,TECTA | c.3055T>A (p.Cys1019Ser) c.362T>A c.4012T>A (p.Cys1338Ser) | |
11 | g.121137534T>C | CA383018675 | TBCEL-TECTA,TECTA | c.3055T>C (p.Cys1019Arg) c.362T>C c.4012T>C (p.Cys1338Arg) | |
11 | g.121137534T>G | CA383018677 | TBCEL-TECTA,TECTA | c.3055T>G (p.Cys1019Gly) c.362T>G c.4012T>G (p.Cys1338Gly) | |
11 | g.121137535G>A | CA383018681 | TBCEL-TECTA,TECTA | c.3056G>A (p.Cys1019Tyr) c.363G>A c.4013G>A (p.Cys1338Tyr) | |
11 | g.121137535G>C | CA383018683 | TBCEL-TECTA,TECTA | c.3056G>C (p.Cys1019Ser) c.363G>C c.4013G>C (p.Cys1338Ser) | |
11 | g.121137535G>T | CA383018685 | TBCEL-TECTA,TECTA | c.3056G>T (p.Cys1019Phe) c.363G>T c.4013G>T (p.Cys1338Phe) | |
11 | g.121137536T>A | CA383018689 | TBCEL-TECTA,TECTA | c.3057T>A (p.Cys1019Ter) c.364T>A c.4014T>A (p.Cys1338Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137536T>C | CA477382525 | TBCEL-TECTA,TECTA | c.3057T>C (p.Cys1019=) c.364T>C c.4014T>C (p.Cys1338=) | |
11 | g.121137536T>G | CA383018690 | TBCEL-TECTA,TECTA | c.3057T>G (p.Cys1019Trp) c.364T>G c.4014T>G (p.Cys1338Trp) | |
11 | g.121137536T= | CA2004733726 | TBCEL-TECTA,TECTA | c.3057T= (p.Cys1019=) c.364T= c.4014T= (p.Cys1338=) | |
11 | g.121137537G>A | CA383018696 | TBCEL-TECTA,TECTA | c.3058G>A (p.Asp1020Asn) c.365G>A c.4015G>A (p.Asp1339Asn) | |
11 | g.121137537G>C | CA383018698 | TBCEL-TECTA,TECTA | c.3058G>C (p.Asp1020His) c.365G>C c.4015G>C (p.Asp1339His) | |
11 | g.121137537G>T | CA383018694 | TBCEL-TECTA,TECTA | c.3058G>T (p.Asp1020Tyr) c.365G>T c.4015G>T (p.Asp1339Tyr) | |
11 | g.121137538A= | CA2004733727 | TBCEL-TECTA,TECTA | c.3059A= (p.Asp1020=) c.366A= c.4016A= (p.Asp1339=) | |
11 | g.121137538A>C | CA383018701 | TBCEL-TECTA,TECTA | c.3059A>C (p.Asp1020Ala) c.366A>C c.4016A>C (p.Asp1339Ala) | |
11 | g.121137538A>G | CA383018704 | TBCEL-TECTA,TECTA | c.3059A>G (p.Asp1020Gly) c.366A>G c.4016A>G (p.Asp1339Gly) | |
11 | g.121137538A>T | CA6327147 | TBCEL-TECTA,TECTA | c.3059A>T (p.Asp1020Val) c.366A>T c.4016A>T (p.Asp1339Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137539T>A | CA383018707 | TBCEL-TECTA,TECTA | c.3060T>A (p.Asp1020Glu) c.367T>A c.4017T>A (p.Asp1339Glu) | |
11 | g.121137539T>C | CA477382536 | TBCEL-TECTA,TECTA | c.3060T>C (p.Asp1020=) c.367T>C c.4017T>C (p.Asp1339=) | |
11 | g.121137539T>G | CA383018709 | TBCEL-TECTA,TECTA | c.3060T>G (p.Asp1020Glu) c.367T>G c.4017T>G (p.Asp1339Glu) | |
11 | g.121137539_121137540insAA | CA2725114459 | TBCEL-TECTA,TECTA | c.3060_3061insAA (p.Glu1021LysfsTer?) c.367_368insAA c.4017_4018insAA (p.Glu1340LysfsTer?) | dbSNP |
11 | g.121137540G>A | CA383018715 | TBCEL-TECTA,TECTA | c.3061G>A (p.Glu1021Lys) c.368G>A c.4018G>A (p.Glu1340Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137540G>C | CA383018712 | TBCEL-TECTA,TECTA | c.3061G>C (p.Glu1021Gln) c.368G>C c.4018G>C (p.Glu1340Gln) | gnomAD v4 |
11 | g.121137540G= | CA2004733729 | TBCEL-TECTA,TECTA | c.3061G= (p.Glu1021=) c.368G= c.4018G= (p.Glu1340=) | |
11 | g.121137540G>T | CA383018713 | TBCEL-TECTA,TECTA | c.3061G>T (p.Glu1021Ter) c.368G>T c.4018G>T (p.Glu1340Ter) | |
11 | g.121137541A= | CA2004733731 | TBCEL-TECTA,TECTA | c.3062A= (p.Glu1021=) c.369A= c.4019A= (p.Glu1340=) | |
11 | g.121137541A>C | CA383018718 | TBCEL-TECTA,TECTA | c.3062A>C (p.Glu1021Ala) c.369A>C c.4019A>C (p.Glu1340Ala) | |
11 | g.121137541A>G | CA229825402 | TBCEL-TECTA,TECTA | c.3062A>G (p.Glu1021Gly) c.369A>G c.4019A>G (p.Glu1340Gly) | dbSNP gnomAD v4 |
11 | g.121137541A>T | CA383018720 | TBCEL-TECTA,TECTA | c.3062A>T (p.Glu1021Val) c.369A>T c.4019A>T (p.Glu1340Val) | |
11 | g.121137542G>A | CA477382539 | TBCEL-TECTA,TECTA | c.3063G>A (p.Glu1021=) c.370G>A c.4020G>A (p.Glu1340=) | gnomAD v4 |
11 | g.121137542G>C | CA383018724 | TBCEL-TECTA,TECTA | c.3063G>C (p.Glu1021Asp) c.370G>C c.4020G>C (p.Glu1340Asp) | |
11 | g.121137542G>T | CA383018726 | TBCEL-TECTA,TECTA | c.3063G>T (p.Glu1021Asp) c.370G>T c.4020G>T (p.Glu1340Asp) | |
11 | g.121137543G>A | CA6327148 | TBCEL-TECTA,TECTA | c.3064G>A (p.Gly1022Ser) c.371G>A c.4021G>A (p.Gly1341Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137543G>C | CA383018730 | TBCEL-TECTA,TECTA | c.3064G>C (p.Gly1022Arg) c.371G>C c.4021G>C (p.Gly1341Arg) | |
11 | g.121137543G= | CA2004733733 | TBCEL-TECTA,TECTA | c.3064G= (p.Gly1022=) c.371G= c.4021G= (p.Gly1341=) | |
11 | g.121137543G>T | CA383018728 | TBCEL-TECTA,TECTA | c.3064G>T (p.Gly1022Cys) c.371G>T c.4021G>T (p.Gly1341Cys) | COSMIC |
11 | g.121137544G>A | CA6327149 | TBCEL-TECTA,TECTA | c.3065G>A (p.Gly1022Asp) c.372G>A c.4022G>A (p.Gly1341Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137544G>C | CA383018735 | TBCEL-TECTA,TECTA | c.3065G>C (p.Gly1022Ala) c.372G>C c.4022G>C (p.Gly1341Ala) | gnomAD v4 |
11 | g.121137544G= | CA2004733734 | TBCEL-TECTA,TECTA | c.3065G= (p.Gly1022=) c.372G= c.4022G= (p.Gly1341=) | |
11 | g.121137544G>T | CA383018737 | TBCEL-TECTA,TECTA | c.3065G>T (p.Gly1022Val) c.372G>T c.4022G>T (p.Gly1341Val) | dbSNP gnomAD v4 |
11 | g.121137545C>A | CA477382545 | TBCEL-TECTA,TECTA | c.3066C>A (p.Gly1022=) c.373C>A c.4023C>A (p.Gly1341=) | |
11 | g.121137545C= | CA2004733736 | TBCEL-TECTA,TECTA | c.3066C= (p.Gly1022=) c.373C= c.4023C= (p.Gly1341=) | |
11 | g.121137545C>G | CA6327150 | TBCEL-TECTA,TECTA | c.3066C>G (p.Gly1022=) c.373C>G c.4023C>G (p.Gly1341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137545C>T | CA477382546 | TBCEL-TECTA,TECTA | c.3066C>T (p.Gly1022=) c.373C>T c.4023C>T (p.Gly1341=) | gnomAD v4 |
11 | g.121137546T>A | CA383018742 | TBCEL-TECTA,TECTA | c.3067T>A (p.Tyr1023Asn) c.374T>A c.4024T>A (p.Tyr1342Asn) | |
11 | g.121137546T>C | CA383018744 | TBCEL-TECTA,TECTA | c.3067T>C (p.Tyr1023His) c.374T>C c.4024T>C (p.Tyr1342His) | |
11 | g.121137546T>G | CA383018746 | TBCEL-TECTA,TECTA | c.3067T>G (p.Tyr1023Asp) c.374T>G c.4024T>G (p.Tyr1342Asp) | |
11 | g.121137547A= | CA2004733737 | TBCEL-TECTA,TECTA | c.3068A= (p.Tyr1023=) c.375A= c.4025A= (p.Tyr1342=) | |
11 | g.121137547A>C | CA383018749 | TBCEL-TECTA,TECTA | c.3068A>C (p.Tyr1023Ser) c.375A>C c.4025A>C (p.Tyr1342Ser) | |
11 | g.121137547A>G | CA383018751 | TBCEL-TECTA,TECTA | c.3068A>G (p.Tyr1023Cys) c.375A>G c.4025A>G (p.Tyr1342Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137547A>T | CA383018753 | TBCEL-TECTA,TECTA | c.3068A>T (p.Tyr1023Phe) c.375A>T c.4025A>T (p.Tyr1342Phe) | |
11 | g.121137548T>A | CA383018755 | TBCEL-TECTA,TECTA | c.3069T>A (p.Tyr1023Ter) c.376T>A c.4026T>A (p.Tyr1342Ter) | |
11 | g.121137548T>C | CA477382548 | TBCEL-TECTA,TECTA | c.3069T>C (p.Tyr1023=) c.376T>C c.4026T>C (p.Tyr1342=) | |
11 | g.121137548T>G | CA383018757 | TBCEL-TECTA,TECTA | c.3069T>G (p.Tyr1023Ter) c.376T>G c.4026T>G (p.Tyr1342Ter) | |
11 | g.121137549G>A | CA383018762 | TBCEL-TECTA,TECTA | c.3070G>A (p.Ala1024Thr) c.377G>A c.4027G>A (p.Ala1343Thr) | |
11 | g.121137549G>C | CA383018764 | TBCEL-TECTA,TECTA | c.3070G>C (p.Ala1024Pro) c.377G>C c.4027G>C (p.Ala1343Pro) | |
11 | g.121137549G>T | CA383018759 | TBCEL-TECTA,TECTA | c.3070G>T (p.Ala1024Ser) c.377G>T c.4027G>T (p.Ala1343Ser) | |
11 | g.121137550C>A | CA383018767 | TBCEL-TECTA,TECTA | c.3071C>A (p.Ala1024Asp) c.378C>A c.4028C>A (p.Ala1343Asp) | |
11 | g.121137550C= | CA2004733739 | TBCEL-TECTA,TECTA | c.3071C= (p.Ala1024=) c.378C= c.4028C= (p.Ala1343=) | |
11 | g.121137550C>G | CA383018770 | TBCEL-TECTA,TECTA | c.3071C>G (p.Ala1024Gly) c.378C>G c.4028C>G (p.Ala1343Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137550C>T | CA383018772 | TBCEL-TECTA,TECTA | c.3071C>T (p.Ala1024Val) c.378C>T c.4028C>T (p.Ala1343Val) | dbSNP |
11 | g.121137551T>A | CA477382552 | TBCEL-TECTA,TECTA | c.3072T>A (p.Ala1024=) c.379T>A c.4029T>A (p.Ala1343=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137551T>C | CA477382554 | TBCEL-TECTA,TECTA | c.3072T>C (p.Ala1024=) c.379T>C c.4029T>C (p.Ala1343=) | |
11 | g.121137551T>G | CA477382557 | TBCEL-TECTA,TECTA | c.3072T>G (p.Ala1024=) c.379T>G c.4029T>G (p.Ala1343=) | |
11 | g.121137551T= | CA2004733741 | TBCEL-TECTA,TECTA | c.3072T= (p.Ala1024=) c.379T= c.4029T= (p.Ala1343=) | |
11 | g.121137552C>A | CA383018775 | TBCEL-TECTA,TECTA | c.3073C>A (p.Leu1025Ile) c.380C>A c.4030C>A (p.Leu1344Ile) | |
11 | g.121137552C= | CA2004733743 | TBCEL-TECTA,TECTA | c.3073C= (p.Leu1025=) c.380C= c.4030C= (p.Leu1344=) | |
11 | g.121137552C>G | CA383018776 | TBCEL-TECTA,TECTA | c.3073C>G (p.Leu1025Val) c.380C>G c.4030C>G (p.Leu1344Val) | gnomAD v4 |
11 | g.121137552C>T | CA6327151 | TBCEL-TECTA,TECTA | c.3073C>T (p.Leu1025=) c.380C>T c.4030C>T (p.Leu1344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137553T>A | CA383018781 | TBCEL-TECTA,TECTA | c.3074T>A (p.Leu1025Gln) c.381T>A c.4031T>A (p.Leu1344Gln) | |
11 | g.121137553T>C | CA383018785 | TBCEL-TECTA,TECTA | c.3074T>C (p.Leu1025Pro) c.381T>C c.4031T>C (p.Leu1344Pro) | dbSNP gnomAD v4 |
11 | g.121137553T>G | CA383018783 | TBCEL-TECTA,TECTA | c.3074T>G (p.Leu1025Arg) c.381T>G c.4031T>G (p.Leu1344Arg) | |
11 | g.121137553T= | CA2004733744 | TBCEL-TECTA,TECTA | c.3074T= (p.Leu1025=) c.381T= c.4031T= (p.Leu1344=) | |
11 | g.121137554A= | CA2004733746 | TBCEL-TECTA,TECTA | c.3075A= (p.Leu1025=) c.382A= c.4032A= (p.Leu1344=) | |
11 | g.121137554A>C | CA477382561 | TBCEL-TECTA,TECTA | c.3075A>C (p.Leu1025=) c.382A>C c.4032A>C (p.Leu1344=) | gnomAD v4 |
11 | g.121137554A>G | CA229825408 | TBCEL-TECTA,TECTA | c.3075A>G (p.Leu1025=) c.382A>G c.4032A>G (p.Leu1344=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137554A>T | CA477382564 | TBCEL-TECTA,TECTA | c.3075A>T (p.Leu1025=) c.382A>T c.4032A>T (p.Leu1344=) | |
11 | g.121137555C>A | CA383018788 | TBCEL-TECTA,TECTA | c.3076C>A (p.Leu1026Met) c.383C>A c.4033C>A (p.Leu1345Met) | dbSNP gnomAD v2 |
11 | g.121137555C= | CA2004733748 | TBCEL-TECTA,TECTA | c.3076C= (p.Leu1026=) c.383C= c.4033C= (p.Leu1345=) | |
11 | g.121137555C>G | CA383018790 | TBCEL-TECTA,TECTA | c.3076C>G (p.Leu1026Val) c.383C>G c.4033C>G (p.Leu1345Val) | |
11 | g.121137555C>T | CA477382566 | TBCEL-TECTA,TECTA | c.3076C>T (p.Leu1026=) c.383C>T c.4033C>T (p.Leu1345=) | |
11 | g.121137556T>A | CA383018792 | TBCEL-TECTA,TECTA | c.3077T>A (p.Leu1026Gln) c.384T>A c.4034T>A (p.Leu1345Gln) | |
11 | g.121137556T>C | CA383018795 | TBCEL-TECTA,TECTA | c.3077T>C (p.Leu1026Pro) c.384T>C c.4034T>C (p.Leu1345Pro) | gnomAD v4 |
11 | g.121137556T>G | CA383018797 | TBCEL-TECTA,TECTA | c.3077T>G (p.Leu1026Arg) c.384T>G c.4034T>G (p.Leu1345Arg) | dbSNP |
11 | g.121137556T= | CA2004733749 | TBCEL-TECTA,TECTA | c.3077T= (p.Leu1026=) c.384T= c.4034T= (p.Leu1345=) | |
11 | g.121137557G>A | CA477382570 | TBCEL-TECTA,TECTA | c.3078G>A (p.Leu1026=) c.385G>A c.4035G>A (p.Leu1345=) | gnomAD v4 |
11 | g.121137557G>C | CA477382568 | TBCEL-TECTA,TECTA | c.3078G>C (p.Leu1026=) c.385G>C c.4035G>C (p.Leu1345=) | |
11 | g.121137557G>T | CA477382567 | TBCEL-TECTA,TECTA | c.3078G>T (p.Leu1026=) c.385G>T c.4035G>T (p.Leu1345=) | |
11 | g.121137558G>A | CA383018802 | TBCEL-TECTA,TECTA | c.3079G>A (p.Gly1027Ser) c.386G>A c.4036G>A (p.Gly1346Ser) | |
11 | g.121137558G>C | CA383018805 | TBCEL-TECTA,TECTA | c.3079G>C (p.Gly1027Arg) c.386G>C c.4036G>C (p.Gly1346Arg) | |
11 | g.121137558G>T | CA383018800 | TBCEL-TECTA,TECTA | c.3079G>T (p.Gly1027Cys) c.386G>T c.4036G>T (p.Gly1346Cys) | |
11 | g.121137559G>A | CA383018807 | TBCEL-TECTA,TECTA | c.3080G>A (p.Gly1027Asp) c.387G>A c.4037G>A (p.Gly1346Asp) | COSMIC |
11 | g.121137559G>C | CA383018812 | TBCEL-TECTA,TECTA | c.3080G>C (p.Gly1027Ala) c.387G>C c.4037G>C (p.Gly1346Ala) | |
11 | g.121137559G>T | CA383018810 | TBCEL-TECTA,TECTA | c.3080G>T (p.Gly1027Val) c.387G>T c.4037G>T (p.Gly1346Val) | |
11 | g.121137560C>A | CA477382573 | TBCEL-TECTA,TECTA | c.3081C>A (p.Gly1027=) c.388C>A c.4038C>A (p.Gly1346=) | |
11 | g.121137560C>G | CA477382575 | TBCEL-TECTA,TECTA | c.3081C>G (p.Gly1027=) c.388C>G c.4038C>G (p.Gly1346=) | |
11 | g.121137560C>T | CA477382574 | TBCEL-TECTA,TECTA | c.3081C>T (p.Gly1027=) c.388C>T c.4038C>T (p.Gly1346=) | |
11 | g.121137561A>C | CA383018815 | TBCEL-TECTA,TECTA | c.3082A>C (p.Ser1028Arg) c.389A>C c.4039A>C (p.Ser1347Arg) | |
11 | g.121137561A>G | CA383018820 | TBCEL-TECTA,TECTA | c.3082A>G (p.Ser1028Gly) c.389A>G c.4039A>G (p.Ser1347Gly) | |
11 | g.121137561A>T | CA383018817 | TBCEL-TECTA,TECTA | c.3082A>T (p.Ser1028Cys) c.389A>T c.4039A>T (p.Ser1347Cys) | COSMIC |
11 | g.121137562G>A | CA229825413 | TBCEL-TECTA,TECTA | c.3083G>A (p.Ser1028Asn) c.390G>A c.4040G>A (p.Ser1347Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137562G>C | CA383018823 | TBCEL-TECTA,TECTA | c.3083G>C (p.Ser1028Thr) c.390G>C c.4040G>C (p.Ser1347Thr) | |
11 | g.121137562G= | CA2004733750 | TBCEL-TECTA,TECTA | c.3083G= (p.Ser1028=) c.390G= c.4040G= (p.Ser1347=) | |
11 | g.121137562G>T | CA383018826 | TBCEL-TECTA,TECTA | c.3083G>T (p.Ser1028Ile) c.390G>T c.4040G>T (p.Ser1347Ile) | gnomAD v4 |
11 | g.121137563C>A | CA383018828 | TBCEL-TECTA,TECTA | c.3084C>A (p.Ser1028Arg) c.391C>A c.4041C>A (p.Ser1347Arg) | |
11 | g.121137563C>G | CA383018830 | TBCEL-TECTA,TECTA | c.3084C>G (p.Ser1028Arg) c.391C>G c.4041C>G (p.Ser1347Arg) | |
11 | g.121137563C>T | CA477382580 | TBCEL-TECTA,TECTA | c.3084C>T (p.Ser1028=) c.391C>T c.4041C>T (p.Ser1347=) | gnomAD v4 |
11 | g.121137564C>A | CA383018833 | TBCEL-TECTA,TECTA | c.3085C>A (p.Gln1029Lys) c.392C>A c.4042C>A (p.Gln1348Lys) | |
11 | g.121137564C>G | CA383018835 | TBCEL-TECTA,TECTA | c.3085C>G (p.Gln1029Glu) c.392C>G c.4042C>G (p.Gln1348Glu) | |
11 | g.121137564C>T | CA383018837 | TBCEL-TECTA,TECTA | c.3085C>T (p.Gln1029Ter) c.392C>T c.4042C>T (p.Gln1348Ter) | |
11 | g.121137565A= | CA2004733752 | TBCEL-TECTA,TECTA | c.3086A= (p.Gln1029=) c.393A= c.4043A= (p.Gln1348=) | |
11 | g.121137565A>C | CA383018840 | TBCEL-TECTA,TECTA | c.3086A>C (p.Gln1029Pro) c.393A>C c.4043A>C (p.Gln1348Pro) | |
11 | g.121137565A>G | CA383018842 | TBCEL-TECTA,TECTA | c.3086A>G (p.Gln1029Arg) c.393A>G c.4043A>G (p.Gln1348Arg) | dbSNP |
11 | g.121137565A>T | CA383018844 | TBCEL-TECTA,TECTA | c.3086A>T (p.Gln1029Leu) c.393A>T c.4043A>T (p.Gln1348Leu) | |
11 | g.121137566G>A | CA477382584 | TBCEL-TECTA,TECTA | c.3087G>A (p.Gln1029=) c.394G>A c.4044G>A (p.Gln1348=) | |
11 | g.121137566G>C | CA383018849 | TBCEL-TECTA,TECTA | c.3087G>C (p.Gln1029His) c.394G>C c.4044G>C (p.Gln1348His) | |
11 | g.121137566G>T | CA383018847 | TBCEL-TECTA,TECTA | c.3087G>T (p.Gln1029His) c.394G>T c.4044G>T (p.Gln1348His) | |
11 | g.121137567T>A | CA383018852 | TBCEL-TECTA,TECTA | c.3088T>A (p.Cys1030Ser) c.395T>A c.4045T>A (p.Cys1349Ser) | |
11 | g.121137567T>C | CA383018854 | TBCEL-TECTA,TECTA | c.3088T>C (p.Cys1030Arg) c.395T>C c.4045T>C (p.Cys1349Arg) | |
11 | g.121137567T>G | CA383018856 | TBCEL-TECTA,TECTA | c.3088T>G (p.Cys1030Gly) c.395T>G c.4045T>G (p.Cys1349Gly) | |
11 | g.121137568G>A | CA383018860 | TBCEL-TECTA,TECTA | c.3089G>A (p.Cys1030Tyr) c.396G>A c.4046G>A (p.Cys1349Tyr) | |
11 | g.121137568G>C | CA383018862 | TBCEL-TECTA,TECTA | c.3089G>C (p.Cys1030Ser) c.396G>C c.4046G>C (p.Cys1349Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137568G= | CA2004733753 | TBCEL-TECTA,TECTA | c.3089G= (p.Cys1030=) c.396G= c.4046G= (p.Cys1349=) | |
11 | g.121137568G>T | CA383018864 | TBCEL-TECTA,TECTA | c.3089G>T (p.Cys1030Phe) c.396G>T c.4046G>T (p.Cys1349Phe) | |
11 | g.121137569T>A | CA383018866 | TBCEL-TECTA,TECTA | c.3090T>A (p.Cys1030Ter) c.397T>A c.4047T>A (p.Cys1349Ter) | |
11 | g.121137569T>C | CA477382586 | TBCEL-TECTA,TECTA | c.3090T>C (p.Cys1030=) c.397T>C c.4047T>C (p.Cys1349=) | |
11 | g.121137569T>G | CA383018869 | TBCEL-TECTA,TECTA | c.3090T>G (p.Cys1030Trp) c.397T>G c.4047T>G (p.Cys1349Trp) | |
11 | g.121137570G>A | CA383018872 | TBCEL-TECTA,TECTA | c.3091G>A (p.Val1031Ile) c.398G>A c.4048G>A (p.Val1350Ile) | |
11 | g.121137570G>C | CA383018874 | TBCEL-TECTA,TECTA | c.3091G>C (p.Val1031Leu) c.398G>C c.4048G>C (p.Val1350Leu) | |
11 | g.121137570G>T | CA383018875 | TBCEL-TECTA,TECTA | c.3091G>T (p.Val1031Phe) c.398G>T c.4048G>T (p.Val1350Phe) | |
11 | g.121137571T>A | CA383018881 | TBCEL-TECTA,TECTA | c.3092T>A (p.Val1031Asp) c.399T>A c.4049T>A (p.Val1350Asp) | |
11 | g.121137571T>C | CA383018882 | TBCEL-TECTA,TECTA | c.3092T>C (p.Val1031Ala) c.399T>C c.4049T>C (p.Val1350Ala) | |
11 | g.121137571T>G | CA383018879 | TBCEL-TECTA,TECTA | c.3092T>G (p.Val1031Gly) c.399T>G c.4049T>G (p.Val1350Gly) | |
11 | g.121137572C>A | CA477382590 | TBCEL-TECTA,TECTA | c.3093C>A (p.Val1031=) c.400C>A c.4050C>A (p.Val1350=) | |
11 | g.121137572C>G | CA477382592 | TBCEL-TECTA,TECTA | c.3093C>G (p.Val1031=) c.400C>G c.4050C>G (p.Val1350=) | |
11 | g.121137572C>T | CA477382591 | TBCEL-TECTA,TECTA | c.3093C>T (p.Val1031=) c.400C>T c.4050C>T (p.Val1350=) | |
11 | g.121137573A= | CA2004733755 | TBCEL-TECTA,TECTA | c.3094A= (p.Thr1032=) c.401A= c.4051A= (p.Thr1351=) | |
11 | g.121137573A>C | CA383018885 | TBCEL-TECTA,TECTA | c.3094A>C (p.Thr1032Pro) c.401A>C c.4051A>C (p.Thr1351Pro) | |
11 | g.121137573A>G | CA383018887 | TBCEL-TECTA,TECTA | c.3094A>G (p.Thr1032Ala) c.401A>G c.4051A>G (p.Thr1351Ala) | dbSNP |
11 | g.121137573A>T | CA383018889 | TBCEL-TECTA,TECTA | c.3094A>T (p.Thr1032Ser) c.401A>T c.4051A>T (p.Thr1351Ser) | |
11 | g.121137574C>A | CA383018892 | TBCEL-TECTA,TECTA | c.3095C>A (p.Thr1032Lys) c.402C>A c.4052C>A (p.Thr1351Lys) | |
11 | g.121137574C= | CA2004733757 | TBCEL-TECTA,TECTA | c.3095C= (p.Thr1032=) c.402C= c.4052C= (p.Thr1351=) | |
11 | g.121137574C>G | CA383018895 | TBCEL-TECTA,TECTA | c.3095C>G (p.Thr1032Arg) c.402C>G c.4052C>G (p.Thr1351Arg) | |
11 | g.121137574C>T | CA229825419 | TBCEL-TECTA,TECTA | c.3095C>T (p.Thr1032Met) c.402C>T c.4052C>T (p.Thr1351Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.121137575G>A | CA6327152 | TBCEL-TECTA,TECTA | c.3096G>A (p.Thr1032=) c.403G>A c.4053G>A (p.Thr1351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121137575G>C | CA477382593 | TBCEL-TECTA,TECTA | c.3096G>C (p.Thr1032=) c.403G>C c.4053G>C (p.Thr1351=) | |
11 | g.121137575G= | CA2004733759 | TBCEL-TECTA,TECTA | c.3096G= (p.Thr1032=) c.403G= c.4053G= (p.Thr1351=) | |
11 | g.121137575G>T | CA229825424 | TBCEL-TECTA,TECTA | c.3096G>T (p.Thr1032=) c.403G>T c.4053G>T (p.Thr1351=) | dbSNP |
11 | g.121137576C>A | CA477382594 | TBCEL-TECTA,TECTA | c.3097C>A (p.Arg1033=) c.404C>A c.4054C>A (p.Arg1352=) | |
11 | g.121137576C= | CA2004733762 | TBCEL-TECTA,TECTA | c.3097C= (p.Arg1033=) c.404C= c.4054C= (p.Arg1352=) | |
11 | g.121137576C>G | CA383018901 | TBCEL-TECTA,TECTA | c.3097C>G (p.Arg1033Gly) c.404C>G c.4054C>G (p.Arg1352Gly) | |
11 | g.121137576C>T | CA182517 | TBCEL-TECTA,TECTA | c.3097C>T (p.Arg1033Trp) c.404C>T c.4054C>T (p.Arg1352Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137577G>A | CA6327153 | TBCEL-TECTA,TECTA | c.3098G>A (p.Arg1033Gln) c.405G>A c.4055G>A (p.Arg1352Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137577G>C | CA383018904 | TBCEL-TECTA,TECTA | c.3098G>C (p.Arg1033Pro) c.405G>C c.4055G>C (p.Arg1352Pro) | |
11 | g.121137577G= | CA2004733765 | TBCEL-TECTA,TECTA | c.3098G= (p.Arg1033=) c.405G= c.4055G= (p.Arg1352=) | |
11 | g.121137577G>T | CA383018906 | TBCEL-TECTA,TECTA | c.3098G>T (p.Arg1033Leu) c.405G>T c.4055G>T (p.Arg1352Leu) | |
11 | g.121137578G>A | CA477382598 | TBCEL-TECTA,TECTA | c.3099G>A (p.Arg1033=) c.406G>A c.4056G>A (p.Arg1352=) | dbSNP gnomAD v4 |
11 | g.121137578G>C | CA477382599 | TBCEL-TECTA,TECTA | c.3099G>C (p.Arg1033=) c.406G>C c.4056G>C (p.Arg1352=) | |
11 | g.121137578G= | CA2004733767 | TBCEL-TECTA,TECTA | c.3099G= (p.Arg1033=) c.406G= c.4056G= (p.Arg1352=) | |
11 | g.121137578G>T | CA477382600 | TBCEL-TECTA,TECTA | c.3099G>T (p.Arg1033=) c.406G>T c.4056G>T (p.Arg1352=) | |
11 | g.121137579A= | CA2004733768 | TBCEL-TECTA,TECTA | c.3100A= (p.Ser1034=) c.407A= c.4057A= (p.Ser1353=) | |
11 | g.121137579A>C | CA383018913 | TBCEL-TECTA,TECTA | c.3100A>C (p.Ser1034Arg) c.407A>C c.4057A>C (p.Ser1353Arg) | gnomAD v4 |
11 | g.121137579A>G | CA383018911 | TBCEL-TECTA,TECTA | c.3100A>G (p.Ser1034Gly) c.407A>G c.4057A>G (p.Ser1353Gly) | |
11 | g.121137579A>T | CA229825452 | TBCEL-TECTA,TECTA | c.3100A>T (p.Ser1034Cys) c.407A>T c.4057A>T (p.Ser1353Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137580G>A | CA383018915 | TBCEL-TECTA,TECTA | c.3101G>A (p.Ser1034Asn) c.408G>A c.4058G>A (p.Ser1353Asn) | dbSNP gnomAD v2 |
11 | g.121137580G>C | CA383018917 | TBCEL-TECTA,TECTA | c.3101G>C (p.Ser1034Thr) c.408G>C c.4058G>C (p.Ser1353Thr) | |
11 | g.121137580G= | CA2004733770 | TBCEL-TECTA,TECTA | c.3101G= (p.Ser1034=) c.408G= c.4058G= (p.Ser1353=) | |
11 | g.121137580G>T | CA383018920 | TBCEL-TECTA,TECTA | c.3101G>T (p.Ser1034Ile) c.408G>T c.4058G>T (p.Ser1353Ile) | dbSNP |
11 | g.121137581T>A | CA383018923 | TBCEL-TECTA,TECTA | c.3102T>A (p.Ser1034Arg) c.409T>A c.4059T>A (p.Ser1353Arg) | |
11 | g.121137581T>C | CA477382602 | TBCEL-TECTA,TECTA | c.3102T>C (p.Ser1034=) c.409T>C c.4059T>C (p.Ser1353=) | |
11 | g.121137581T>G | CA383018924 | TBCEL-TECTA,TECTA | c.3102T>G (p.Ser1034Arg) c.409T>G c.4059T>G (p.Ser1353Arg) | |
11 | g.121137582G>A | CA6327154 | TBCEL-TECTA,TECTA | c.3103G>A (p.Glu1035Lys) c.410G>A c.4060G>A (p.Glu1354Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137582G>C | CA383018927 | TBCEL-TECTA,TECTA | c.3103G>C (p.Glu1035Gln) c.410G>C c.4060G>C (p.Glu1354Gln) | |
11 | g.121137582G= | CA2004733772 | TBCEL-TECTA,TECTA | c.3103G= (p.Glu1035=) c.410G= c.4060G= (p.Glu1354=) | |
11 | g.121137582G>T | CA383018929 | TBCEL-TECTA,TECTA | c.3103G>T (p.Glu1035Ter) c.410G>T c.4060G>T (p.Glu1354Ter) | |
11 | g.121137583A= | CA2004733775 | TBCEL-TECTA,TECTA | c.3104A= (p.Glu1035=) c.411A= c.4061A= (p.Glu1354=) | |
11 | g.121137583A>C | CA383018933 | TBCEL-TECTA,TECTA | c.3104A>C (p.Glu1035Ala) c.411A>C c.4061A>C (p.Glu1354Ala) | |
11 | g.121137583A>G | CA383018935 | TBCEL-TECTA,TECTA | c.3104A>G (p.Glu1035Gly) c.411A>G c.4061A>G (p.Glu1354Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137583A>T | CA383018937 | TBCEL-TECTA,TECTA | c.3104A>T (p.Glu1035Val) c.411A>T c.4061A>T (p.Glu1354Val) | |
11 | g.121137584G>A | CA477382604 | TBCEL-TECTA,TECTA | c.3105G>A (p.Glu1035=) c.412G>A c.4062G>A (p.Glu1354=) | dbSNP gnomAD v4 |
11 | g.121137584G>C | CA383018940 | TBCEL-TECTA,TECTA | c.3105G>C (p.Glu1035Asp) c.412G>C c.4062G>C (p.Glu1354Asp) | |
11 | g.121137584G= | CA2004733777 | TBCEL-TECTA,TECTA | c.3105G= (p.Glu1035=) c.412G= c.4062G= (p.Glu1354=) | |
11 | g.121137584G>T | CA383018942 | TBCEL-TECTA,TECTA | c.3105G>T (p.Glu1035Asp) c.412G>T c.4062G>T (p.Glu1354Asp) | |
11 | g.121137585T>A | CA383018948 | TBCEL-TECTA,TECTA | c.3106T>A (p.Cys1036Ser) c.413T>A c.4063T>A (p.Cys1355Ser) | |
11 | g.121137585T>C | CA383018946 | TBCEL-TECTA,TECTA | c.3106T>C (p.Cys1036Arg) c.413T>C c.4063T>C (p.Cys1355Arg) | |
11 | g.121137585T>G | CA383018945 | TBCEL-TECTA,TECTA | c.3106T>G (p.Cys1036Gly) c.413T>G c.4063T>G (p.Cys1355Gly) | |
11 | g.121137586G>A | CA6327156 | TBCEL-TECTA,TECTA | c.3107G>A (p.Cys1036Tyr) c.414G>A c.4064G>A (p.Cys1355Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137586G>C | CA383018951 | TBCEL-TECTA,TECTA | c.3107G>C (p.Cys1036Ser) c.414G>C c.4064G>C (p.Cys1355Ser) | |
11 | g.121137586G= | CA2004733780 | TBCEL-TECTA,TECTA | c.3107G= (p.Cys1036=) c.414G= c.4064G= (p.Cys1355=) | |
11 | g.121137586G>T | CA6327155 | TBCEL-TECTA,TECTA | c.3107G>T (p.Cys1036Phe) c.414G>T c.4064G>T (p.Cys1355Phe) | dbSNP ExAC |
11 | g.121137587T>A | CA383018957 | TBCEL-TECTA,TECTA | c.3108T>A (p.Cys1036Ter) c.415T>A c.4065T>A (p.Cys1355Ter) | |
11 | g.121137587T>C | CA477382605 | TBCEL-TECTA,TECTA | c.3108T>C (p.Cys1036=) c.415T>C c.4065T>C (p.Cys1355=) | |
11 | g.121137587T>G | CA383018959 | TBCEL-TECTA,TECTA | c.3108T>G (p.Cys1036Trp) c.415T>G c.4065T>G (p.Cys1355Trp) | |
11 | g.121137588G>A | CA383018962 | TBCEL-TECTA,TECTA | c.3109G>A (p.Gly1037Ser) c.416G>A c.4066G>A (p.Gly1356Ser) | |
11 | g.121137588G>C | CA383018965 | TBCEL-TECTA,TECTA | c.3109G>C (p.Gly1037Arg) c.416G>C c.4066G>C (p.Gly1356Arg) | |
11 | g.121137588G>T | CA383018967 | TBCEL-TECTA,TECTA | c.3109G>T (p.Gly1037Cys) c.416G>T c.4066G>T (p.Gly1356Cys) | gnomAD v4 |
11 | g.121137589G>A | CA383018968 | TBCEL-TECTA,TECTA | c.3110G>A (p.Gly1037Asp) c.417G>A c.4067G>A (p.Gly1356Asp) | |
11 | g.121137589G>C | CA383018969 | TBCEL-TECTA,TECTA | c.3110G>C (p.Gly1037Ala) c.417G>C c.4067G>C (p.Gly1356Ala) | |
11 | g.121137589G>T | CA383018970 | TBCEL-TECTA,TECTA | c.3110G>T (p.Gly1037Val) c.417G>T c.4067G>T (p.Gly1356Val) | gnomAD v4 |
11 | g.121137590C>A | CA477382608 | TBCEL-TECTA,TECTA | c.3111C>A (p.Gly1037=) c.418C>A c.4068C>A (p.Gly1356=) | |
11 | g.121137590C>G | CA477382609 | TBCEL-TECTA,TECTA | c.3111C>G (p.Gly1037=) c.418C>G c.4068C>G (p.Gly1356=) | gnomAD v4 |
11 | g.121137590C>T | CA477382610 | TBCEL-TECTA,TECTA | c.3111C>T (p.Gly1037=) c.418C>T c.4068C>T (p.Gly1356=) | |
11 | g.121137591T>A | CA383018971 | TBCEL-TECTA,TECTA | c.3112T>A (p.Cys1038Ser) c.419T>A c.4069T>A (p.Cys1357Ser) | |
11 | g.121137591T>C | CA383018972 | TBCEL-TECTA,TECTA | c.3112T>C (p.Cys1038Arg) c.419T>C c.4069T>C (p.Cys1357Arg) | |
11 | g.121137591T>G | CA383018973 | TBCEL-TECTA,TECTA | c.3112T>G (p.Cys1038Gly) c.419T>G c.4069T>G (p.Cys1357Gly) | |
11 | g.121137592G>A | CA383018976 | TBCEL-TECTA,TECTA | c.3113G>A (p.Cys1038Tyr) c.420G>A c.4070G>A (p.Cys1357Tyr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137592G>C | CA383018975 | TBCEL-TECTA,TECTA | c.3113G>C (p.Cys1038Ser) c.420G>C c.4070G>C (p.Cys1357Ser) | |
11 | g.121137592G= | CA2004733783 | TBCEL-TECTA,TECTA | c.3113G= (p.Cys1038=) c.420G= c.4070G= (p.Cys1357=) | |
11 | g.121137592G>T | CA383018974 | TBCEL-TECTA,TECTA | c.3113G>T (p.Cys1038Phe) c.420G>T c.4070G>T (p.Cys1357Phe) | |
11 | g.121137593C>A | CA383018977 | TBCEL-TECTA,TECTA | c.3114C>A (p.Cys1038Ter) c.421C>A c.4071C>A (p.Cys1357Ter) | |
11 | g.121137593C= | CA2004733786 | TBCEL-TECTA,TECTA | c.3114C= (p.Cys1038=) c.421C= c.4071C= (p.Cys1357=) | |
11 | g.121137593C>G | CA383018978 | TBCEL-TECTA,TECTA | c.3114C>G (p.Cys1038Trp) c.421C>G c.4071C>G (p.Cys1357Trp) | |
11 | g.121137593C>T | CA6327157 | TBCEL-TECTA,TECTA | c.3114C>T (p.Cys1038=) c.421C>T c.4071C>T (p.Cys1357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137594A>C | CA383018979 | TBCEL-TECTA,TECTA | c.3115A>C (p.Asn1039His) c.422A>C c.4072A>C (p.Asn1358His) | |
11 | g.121137594A>G | CA383018980 | TBCEL-TECTA,TECTA | c.3115A>G (p.Asn1039Asp) c.422A>G c.4072A>G (p.Asn1358Asp) | |
11 | g.121137594A>T | CA383018981 | TBCEL-TECTA,TECTA | c.3115A>T (p.Asn1039Tyr) c.422A>T c.4072A>T (p.Asn1358Tyr) | |
11 | g.121137595A= | CA2004733788 | TBCEL-TECTA,TECTA | c.3116A= (p.Asn1039=) c.423A= c.4073A= (p.Asn1358=) | |
11 | g.121137595A>C | CA383018982 | TBCEL-TECTA,TECTA | c.3116A>C (p.Asn1039Thr) c.423A>C c.4073A>C (p.Asn1358Thr) | |
11 | g.121137595A>G | CA229825508 | TBCEL-TECTA,TECTA | c.3116A>G (p.Asn1039Ser) c.423A>G c.4073A>G (p.Asn1358Ser) | dbSNP |
11 | g.121137595A>T | CA383018983 | TBCEL-TECTA,TECTA | c.3116A>T (p.Asn1039Ile) c.423A>T c.4073A>T (p.Asn1358Ile) | gnomAD v4 |
11 | g.121137596C>A | CA383018984 | TBCEL-TECTA,TECTA | c.3117C>A (p.Asn1039Lys) c.424C>A c.4074C>A (p.Asn1358Lys) | |
11 | g.121137596C>G | CA383018985 | TBCEL-TECTA,TECTA | c.3117C>G (p.Asn1039Lys) c.424C>G c.4074C>G (p.Asn1358Lys) | gnomAD v4 |
11 | g.121137596C>T | CA477382622 | TBCEL-TECTA,TECTA | c.3117C>T (p.Asn1039=) c.424C>T c.4074C>T (p.Asn1358=) | |
11 | g.121137597T>A | CA383018986 | TBCEL-TECTA,TECTA | c.3118T>A (p.Phe1040Ile) c.425T>A c.4075T>A (p.Phe1359Ile) | |
11 | g.121137597T>C | CA383018987 | TBCEL-TECTA,TECTA | c.3118T>C (p.Phe1040Leu) c.425T>C c.4075T>C (p.Phe1359Leu) | |
11 | g.121137597T>G | CA383018988 | TBCEL-TECTA,TECTA | c.3118T>G (p.Phe1040Val) c.425T>G c.4075T>G (p.Phe1359Val) | |
11 | g.121137598T>A | CA383018990 | TBCEL-TECTA,TECTA | c.3119T>A (p.Phe1040Tyr) c.426T>A c.4076T>A (p.Phe1359Tyr) | |
11 | g.121137598T>C | CA383018991 | TBCEL-TECTA,TECTA | c.3119T>C (p.Phe1040Ser) c.426T>C c.4076T>C (p.Phe1359Ser) | |
11 | g.121137598T>G | CA383018989 | TBCEL-TECTA,TECTA | c.3119T>G (p.Phe1040Cys) c.426T>G c.4076T>G (p.Phe1359Cys) | |
11 | g.121137599T>A | CA383018992 | TBCEL-TECTA,TECTA | c.3120T>A (p.Phe1040Leu) c.427T>A c.4077T>A (p.Phe1359Leu) | |
11 | g.121137599T>C | CA477382626 | TBCEL-TECTA,TECTA | c.3120T>C (p.Phe1040=) c.427T>C c.4077T>C (p.Phe1359=) | |
11 | g.121137599T>G | CA383018993 | TBCEL-TECTA,TECTA | c.3120T>G (p.Phe1040Leu) c.427T>G c.4077T>G (p.Phe1359Leu) | dbSNP |
11 | g.121137599T= | CA2004733790 | TBCEL-TECTA,TECTA | c.3120T= (p.Phe1040=) c.427T= c.4077T= (p.Phe1359=) | |
11 | g.121137600G>A | CA383018994 | TBCEL-TECTA,TECTA | c.3121G>A (p.Glu1041Lys) c.428G>A c.4078G>A (p.Glu1360Lys) | |
11 | g.121137600G>C | CA383018995 | TBCEL-TECTA,TECTA | c.3121G>C (p.Glu1041Gln) c.428G>C c.4078G>C (p.Glu1360Gln) | gnomAD v4 |
11 | g.121137600G= | CA2004733791 | TBCEL-TECTA,TECTA | c.3121G= (p.Glu1041=) c.428G= c.4078G= (p.Glu1360=) | |
11 | g.121137600G>T | CA229825518 | TBCEL-TECTA,TECTA | c.3121G>T (p.Glu1041Ter) c.428G>T c.4078G>T (p.Glu1360Ter) | dbSNP |