Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121145806G>A | CA477382888 | TBCEL-TECTA,TECTA | c.3795G>A (p.Glu1265=) c.1102G>A n.360G>A c.4752G>A (p.Glu1584=) | |
11 | g.121145806G>C | CA383022447 | TBCEL-TECTA,TECTA | c.3795G>C (p.Glu1265Asp) c.1102G>C n.360G>C c.4752G>C (p.Glu1584Asp) | gnomAD v4 |
11 | g.121145806G>T | CA383022449 | TBCEL-TECTA,TECTA | c.3795G>T (p.Glu1265Asp) c.1102G>T n.360G>T c.4752G>T (p.Glu1584Asp) | |
11 | g.121145807T>A | CA383022451 | TBCEL-TECTA,TECTA | c.3796T>A (p.Phe1266Ile) c.1103T>A n.361T>A c.4753T>A (p.Phe1585Ile) | |
11 | g.121145807T>C | CA383022452 | TBCEL-TECTA,TECTA | c.3796T>C (p.Phe1266Leu) c.1103T>C n.361T>C c.4753T>C (p.Phe1585Leu) | |
11 | g.121145807T>G | CA383022453 | TBCEL-TECTA,TECTA | c.3796T>G (p.Phe1266Val) c.1103T>G n.361T>G c.4753T>G (p.Phe1585Val) | |
11 | g.121145809dup | CA645593863 | TBCEL-TECTA,TECTA | c.3798dup (p.Gly1267TrpfsTer?) c.1105dup n.363dup c.4755dup (p.Gly1586TrpfsTer?) | COSMIC |
11 | g.121145808T>A | CA383022454 | TBCEL-TECTA,TECTA | c.3797T>A (p.Phe1266Tyr) c.1104T>A n.362T>A c.4754T>A (p.Phe1585Tyr) | |
11 | g.121145808T>C | CA383022455 | TBCEL-TECTA,TECTA | c.3797T>C (p.Phe1266Ser) c.1104T>C n.362T>C c.4754T>C (p.Phe1585Ser) | gnomAD v4 |
11 | g.121145808T>G | CA383022457 | TBCEL-TECTA,TECTA | c.3797T>G (p.Phe1266Cys) c.1104T>G n.362T>G c.4754T>G (p.Phe1585Cys) | |
11 | g.121145809T>A | CA383022459 | TBCEL-TECTA,TECTA | c.3798T>A (p.Phe1266Leu) c.1105T>A n.363T>A c.4755T>A (p.Phe1585Leu) | |
11 | g.121145809T>C | CA477382890 | TBCEL-TECTA,TECTA | c.3798T>C (p.Phe1266=) c.1105T>C n.363T>C c.4755T>C (p.Phe1585=) | |
11 | g.121145809T>G | CA383022460 | TBCEL-TECTA,TECTA | c.3798T>G (p.Phe1266Leu) c.1105T>G n.363T>G c.4755T>G (p.Phe1585Leu) | |
11 | g.121145810G>A | CA383022465 | TBCEL-TECTA,TECTA | c.3799G>A (p.Gly1267Arg) c.1106G>A n.364G>A c.4756G>A (p.Gly1586Arg) | gnomAD v4 |
11 | g.121145810G>C | CA383022467 | TBCEL-TECTA,TECTA | c.3799G>C (p.Gly1267Arg) c.1106G>C n.364G>C c.4756G>C (p.Gly1586Arg) | |
11 | g.121145810G>T | CA383022461 | TBCEL-TECTA,TECTA | c.3799G>T (p.Gly1267Trp) c.1106G>T n.364G>T c.4756G>T (p.Gly1586Trp) | dbSNP |
11 | g.121145811G>A | CA383022471 | TBCEL-TECTA,TECTA | c.3800G>A (p.Gly1267Glu) c.1107G>A n.365G>A c.4757G>A (p.Gly1586Glu) | gnomAD v4 |
11 | g.121145811G>C | CA383022473 | TBCEL-TECTA,TECTA | c.3800G>C (p.Gly1267Ala) c.1107G>C n.365G>C c.4757G>C (p.Gly1586Ala) | |
11 | g.121145811G>T | CA383022474 | TBCEL-TECTA,TECTA | c.3800G>T (p.Gly1267Val) c.1107G>T n.365G>T c.4757G>T (p.Gly1586Val) | |
11 | g.121145812G>A | CA477382892 | TBCEL-TECTA,TECTA | c.3801G>A (p.Gly1267=) c.1108G>A n.366G>A c.4758G>A (p.Gly1586=) | |
11 | g.121145812G>C | CA477382894 | TBCEL-TECTA,TECTA | c.3801G>C (p.Gly1267=) c.1108G>C n.366G>C c.4758G>C (p.Gly1586=) | |
11 | g.121145812G>T | CA477382895 | TBCEL-TECTA,TECTA | c.3801G>T (p.Gly1267=) c.1108G>T n.366G>T c.4758G>T (p.Gly1586=) | |
11 | g.121145813C>A | CA383022477 | TBCEL-TECTA,TECTA | c.3802C>A (p.Gln1268Lys) c.1109C>A n.367C>A c.4759C>A (p.Gln1587Lys) | |
11 | g.121145813C>G | CA383022479 | TBCEL-TECTA,TECTA | c.3802C>G (p.Gln1268Glu) c.1109C>G n.367C>G c.4759C>G (p.Gln1587Glu) | |
11 | g.121145813C>T | CA383022480 | TBCEL-TECTA,TECTA | c.3802C>T (p.Gln1268Ter) c.1109C>T n.367C>T c.4759C>T (p.Gln1587Ter) | |
11 | g.121145814A= | CA2004737548 | TBCEL-TECTA,TECTA | c.3803A= (p.Gln1268=) c.1110A= n.368A= c.4760A= (p.Gln1587=) | |
11 | g.121145814A>C | CA383022481 | TBCEL-TECTA,TECTA | c.3803A>C (p.Gln1268Pro) c.1110A>C n.368A>C c.4760A>C (p.Gln1587Pro) | |
11 | g.121145814A>G | CA383022483 | TBCEL-TECTA,TECTA | c.3803A>G (p.Gln1268Arg) c.1110A>G n.368A>G c.4760A>G (p.Gln1587Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145814A>T | CA383022485 | TBCEL-TECTA,TECTA | c.3803A>T (p.Gln1268Leu) c.1110A>T n.368A>T c.4760A>T (p.Gln1587Leu) | |
11 | g.121145815G>A | CA477382898 | TBCEL-TECTA,TECTA | c.3804G>A (p.Gln1268=) c.1111G>A n.369G>A c.4761G>A (p.Gln1587=) | |
11 | g.121145815G>C | CA383022487 | TBCEL-TECTA,TECTA | c.3804G>C (p.Gln1268His) c.1111G>C n.369G>C c.4761G>C (p.Gln1587His) | gnomAD v4 |
11 | g.121145815G>T | CA383022489 | TBCEL-TECTA,TECTA | c.3804G>T (p.Gln1268His) c.1111G>T n.369G>T c.4761G>T (p.Gln1587His) | |
11 | g.121145816A>C | CA383022495 | TBCEL-TECTA,TECTA | c.3805A>C (p.Ser1269Arg) c.1112A>C n.370A>C c.4762A>C (p.Ser1588Arg) | |
11 | g.121145816A>G | CA383022497 | TBCEL-TECTA,TECTA | c.3805A>G (p.Ser1269Gly) c.1112A>G n.370A>G c.4762A>G (p.Ser1588Gly) | |
11 | g.121145816A>T | CA383022493 | TBCEL-TECTA,TECTA | c.3805A>T (p.Ser1269Cys) c.1112A>T n.370A>T c.4762A>T (p.Ser1588Cys) | |
11 | g.121145817G>A | CA383022500 | TBCEL-TECTA,TECTA | c.3806G>A (p.Ser1269Asn) c.1113G>A n.371G>A c.4763G>A (p.Ser1588Asn) | |
11 | g.121145817G>C | CA383022503 | TBCEL-TECTA,TECTA | c.3806G>C (p.Ser1269Thr) c.1113G>C n.371G>C c.4763G>C (p.Ser1588Thr) | |
11 | g.121145817G>T | CA383022505 | TBCEL-TECTA,TECTA | c.3806G>T (p.Ser1269Ile) c.1113G>T n.371G>T c.4763G>T (p.Ser1588Ile) | |
11 | g.121145818C>A | CA383022508 | TBCEL-TECTA,TECTA | c.3807C>A (p.Ser1269Arg) c.1114C>A n.372C>A c.4764C>A (p.Ser1588Arg) | |
11 | g.121145818C>G | CA383022509 | TBCEL-TECTA,TECTA | c.3807C>G (p.Ser1269Arg) c.1114C>G n.372C>G c.4764C>G (p.Ser1588Arg) | |
11 | g.121145818C>T | CA477382902 | TBCEL-TECTA,TECTA | c.3807C>T (p.Ser1269=) c.1114C>T n.372C>T c.4764C>T (p.Ser1588=) | |
11 | g.121145819T>A | CA383022517 | TBCEL-TECTA,TECTA | c.3808T>A (p.Trp1270Arg) c.1115T>A n.373T>A c.4765T>A (p.Trp1589Arg) | |
11 | g.121145819T>C | CA383022513 | TBCEL-TECTA,TECTA | c.3808T>C (p.Trp1270Arg) c.1115T>C n.373T>C c.4765T>C (p.Trp1589Arg) | |
11 | g.121145819T>G | CA383022515 | TBCEL-TECTA,TECTA | c.3808T>G (p.Trp1270Gly) c.1115T>G n.373T>G c.4765T>G (p.Trp1589Gly) | |
11 | g.121145820G>A | CA383022520 | TBCEL-TECTA,TECTA | c.3809G>A (p.Trp1270Ter) c.1116G>A n.374G>A c.4766G>A (p.Trp1589Ter) | |
11 | g.121145820G>C | CA383022523 | TBCEL-TECTA,TECTA | c.3809G>C (p.Trp1270Ser) c.1116G>C n.374G>C c.4766G>C (p.Trp1589Ser) | gnomAD v4 |
11 | g.121145820G= | CA2004737549 | TBCEL-TECTA,TECTA | c.3809G= (p.Trp1270=) c.1116G= n.374G= c.4766G= (p.Trp1589=) | |
11 | g.121145820G>T | CA383022525 | TBCEL-TECTA,TECTA | c.3809G>T (p.Trp1270Leu) c.1116G>T n.374G>T c.4766G>T (p.Trp1589Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145821G>A | CA383022528 | TBCEL-TECTA,TECTA | c.3810G>A (p.Trp1270Ter) c.1117G>A n.375G>A c.4767G>A (p.Trp1589Ter) | |
11 | g.121145821G>C | CA383022530 | TBCEL-TECTA,TECTA | c.3810G>C (p.Trp1270Cys) c.1117G>C n.375G>C c.4767G>C (p.Trp1589Cys) | |
11 | g.121145821G>T | CA383022531 | TBCEL-TECTA,TECTA | c.3810G>T (p.Trp1270Cys) c.1117G>T n.375G>T c.4767G>T (p.Trp1589Cys) | |
11 | g.121145822G>A | CA383022537 | TBCEL-TECTA,TECTA | c.3811G>A (p.Val1271Met) c.1118G>A n.376G>A c.4768G>A (p.Val1590Met) | gnomAD v4 |
11 | g.121145822G>C | CA383022539 | TBCEL-TECTA,TECTA | c.3811G>C (p.Val1271Leu) c.1118G>C n.376G>C c.4768G>C (p.Val1590Leu) | |
11 | g.121145822G>T | CA383022535 | TBCEL-TECTA,TECTA | c.3811G>T (p.Val1271Leu) c.1118G>T n.376G>T c.4768G>T (p.Val1590Leu) | |
11 | g.121145823T>A | CA383022542 | TBCEL-TECTA,TECTA | c.3812T>A (p.Val1271Glu) c.1119T>A n.377T>A c.4769T>A (p.Val1590Glu) | |
11 | g.121145823T>C | CA383022544 | TBCEL-TECTA,TECTA | c.3812T>C (p.Val1271Ala) c.1119T>C n.377T>C c.4769T>C (p.Val1590Ala) | |
11 | g.121145823T>G | CA229831477 | TBCEL-TECTA,TECTA | c.3812T>G (p.Val1271Gly) c.1119T>G n.377T>G c.4769T>G (p.Val1590Gly) | dbSNP |
11 | g.121145823T= | CA2004737550 | TBCEL-TECTA,TECTA | c.3812T= (p.Val1271=) c.1119T= n.377T= c.4769T= (p.Val1590=) | |
11 | g.121145824G>A | CA6327292 | TBCEL-TECTA,TECTA | c.3813G>A (p.Val1271=) c.1120G>A n.378G>A c.4770G>A (p.Val1590=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145824G>C | CA477382908 | TBCEL-TECTA,TECTA | c.3813G>C (p.Val1271=) c.1120G>C n.378G>C c.4770G>C (p.Val1590=) | |
11 | g.121145824G= | CA2004737551 | TBCEL-TECTA,TECTA | c.3813G= (p.Val1271=) c.1120G= n.378G= c.4770G= (p.Val1590=) | |
11 | g.121145824G>T | CA477382907 | TBCEL-TECTA,TECTA | c.3813G>T (p.Val1271=) c.1120G>T n.378G>T c.4770G>T (p.Val1590=) | |
11 | g.121145825A>C | CA383022550 | TBCEL-TECTA,TECTA | c.3814A>C (p.Lys1272Gln) c.1121A>C n.379A>C c.4771A>C (p.Lys1591Gln) | |
11 | g.121145825A>G | CA383022552 | TBCEL-TECTA,TECTA | c.3814A>G (p.Lys1272Glu) c.1121A>G n.379A>G c.4771A>G (p.Lys1591Glu) | |
11 | g.121145825A>T | CA383022555 | TBCEL-TECTA,TECTA | c.3814A>T (p.Lys1272Ter) c.1121A>T n.379A>T c.4771A>T (p.Lys1591Ter) | |
11 | g.121145826A>C | CA383022557 | TBCEL-TECTA,TECTA | c.3815A>C (p.Lys1272Thr) c.1122A>C n.380A>C c.4772A>C (p.Lys1591Thr) | |
11 | g.121145826A>G | CA383022561 | TBCEL-TECTA,TECTA | c.3815A>G (p.Lys1272Arg) c.1122A>G n.380A>G c.4772A>G (p.Lys1591Arg) | gnomAD v4 |
11 | g.121145826A>T | CA383022559 | TBCEL-TECTA,TECTA | c.3815A>T (p.Lys1272Met) c.1122A>T n.380A>T c.4772A>T (p.Lys1591Met) | |
11 | g.121145827G>A | CA477382912 | TBCEL-TECTA,TECTA | c.3816G>A (p.Lys1272=) c.1123G>A n.381G>A c.4773G>A (p.Lys1591=) | dbSNP gnomAD v4 COSMIC |
11 | g.121145827G>C | CA383022564 | TBCEL-TECTA,TECTA | c.3816G>C (p.Lys1272Asn) c.1123G>C n.381G>C c.4773G>C (p.Lys1591Asn) | gnomAD v4 |
11 | g.121145827G= | CA2004737552 | TBCEL-TECTA,TECTA | c.3816G= (p.Lys1272=) c.1123G= n.381G= c.4773G= (p.Lys1591=) | |
11 | g.121145827G>T | CA383022566 | TBCEL-TECTA,TECTA | c.3816G>T (p.Lys1272Asn) c.1123G>T n.381G>T c.4773G>T (p.Lys1591Asn) | gnomAD v4 |
11 | g.121145828A= | CA2004737553 | TBCEL-TECTA,TECTA | c.3817A= (p.Arg1273=) c.1124A= n.382A= c.4774A= (p.Arg1592=) | |
11 | g.121145828A>C | CA477382913 | TBCEL-TECTA,TECTA | c.3817A>C (p.Arg1273=) c.1124A>C n.382A>C c.4774A>C (p.Arg1592=) | |
11 | g.121145828A>G | CA6327293 | TBCEL-TECTA,TECTA | c.3817A>G (p.Arg1273Gly) c.1124A>G n.382A>G c.4774A>G (p.Arg1592Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145828A>T | CA383022567 | TBCEL-TECTA,TECTA | c.3817A>T (p.Arg1273Trp) c.1124A>T n.382A>T c.4774A>T (p.Arg1592Trp) | |
11 | g.121145829G>A | CA383022570 | TBCEL-TECTA,TECTA | c.3818G>A (p.Arg1273Lys) c.1125G>A n.383G>A c.4775G>A (p.Arg1592Lys) | |
11 | g.121145829G>C | CA383022568 | TBCEL-TECTA,TECTA | c.3818G>C (p.Arg1273Thr) c.1125G>C n.383G>C c.4775G>C (p.Arg1592Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145829G= | CA2004737554 | TBCEL-TECTA,TECTA | c.3818G= (p.Arg1273=) c.1125G= n.383G= c.4775G= (p.Arg1592=) | |
11 | g.121145829G>T | CA383022569 | TBCEL-TECTA,TECTA | c.3818G>T (p.Arg1273Met) c.1125G>T n.383G>T c.4775G>T (p.Arg1592Met) | |
11 | g.121145830G>A | CA477382915 | TBCEL-TECTA,TECTA | c.3819G>A (p.Arg1273=) c.1126G>A n.384G>A c.4776G>A (p.Arg1592=) | COSMIC |
11 | g.121145830G>C | CA383022571 | TBCEL-TECTA,TECTA | c.3819G>C (p.Arg1273Ser) c.1126G>C n.384G>C c.4776G>C (p.Arg1592Ser) | |
11 | g.121145830G>T | CA383022572 | TBCEL-TECTA,TECTA | c.3819G>T (p.Arg1273Ser) c.1126G>T n.384G>T c.4776G>T (p.Arg1592Ser) | |
11 | g.121145831G>A | CA383022573 | TBCEL-TECTA,TECTA | c.3820G>A (p.Asp1274Asn) c.1127G>A n.385G>A c.4777G>A (p.Asp1593Asn) | gnomAD v4 |
11 | g.121145831G>C | CA383022574 | TBCEL-TECTA,TECTA | c.3820G>C (p.Asp1274His) c.1127G>C n.385G>C c.4777G>C (p.Asp1593His) | |
11 | g.121145831G>T | CA383022575 | TBCEL-TECTA,TECTA | c.3820G>T (p.Asp1274Tyr) c.1127G>T n.385G>T c.4777G>T (p.Asp1593Tyr) | |
11 | g.121145832A>C | CA383022576 | TBCEL-TECTA,TECTA | c.3821A>C (p.Asp1274Ala) c.1128A>C n.386A>C c.4778A>C (p.Asp1593Ala) | |
11 | g.121145832A>G | CA383022577 | TBCEL-TECTA,TECTA | c.3821A>G (p.Asp1274Gly) c.1128A>G n.386A>G c.4778A>G (p.Asp1593Gly) | |
11 | g.121145832A>T | CA383022578 | TBCEL-TECTA,TECTA | c.3821A>T (p.Asp1274Val) c.1128A>T n.386A>T c.4778A>T (p.Asp1593Val) | |
11 | g.121145833C>A | CA383022579 | TBCEL-TECTA,TECTA | c.3822C>A (p.Asp1274Glu) c.1129C>A n.387C>A c.4779C>A (p.Asp1593Glu) | |
11 | g.121145833C>G | CA383022580 | TBCEL-TECTA,TECTA | c.3822C>G (p.Asp1274Glu) c.1129C>G n.387C>G c.4779C>G (p.Asp1593Glu) | |
11 | g.121145833C>T | CA477382918 | TBCEL-TECTA,TECTA | c.3822C>T (p.Asp1274=) c.1129C>T n.387C>T c.4779C>T (p.Asp1593=) | |
11 | g.121145834A>C | CA383022581 | TBCEL-TECTA,TECTA | c.3823A>C (p.Thr1275Pro) c.1130A>C n.388A>C c.4780A>C (p.Thr1594Pro) | |
11 | g.121145834A>G | CA383022582 | TBCEL-TECTA,TECTA | c.3823A>G (p.Thr1275Ala) c.1130A>G n.388A>G c.4780A>G (p.Thr1594Ala) | |
11 | g.121145834A>T | CA383022583 | TBCEL-TECTA,TECTA | c.3823A>T (p.Thr1275Ser) c.1130A>T n.388A>T c.4780A>T (p.Thr1594Ser) | |
11 | g.121145835C>A | CA383022586 | TBCEL-TECTA,TECTA | c.3824C>A (p.Thr1275Asn) c.1131C>A n.389C>A c.4781C>A (p.Thr1594Asn) | COSMIC |
11 | g.121145835C>G | CA383022584 | TBCEL-TECTA,TECTA | c.3824C>G (p.Thr1275Ser) c.1131C>G n.389C>G c.4781C>G (p.Thr1594Ser) | |
11 | g.121145835C>T | CA383022585 | TBCEL-TECTA,TECTA | c.3824C>T (p.Thr1275Ile) c.1131C>T n.389C>T c.4781C>T (p.Thr1594Ile) | |
11 | g.121145835_121145838delinsCCTT | CA2004737555 | TBCEL-TECTA,TECTA | c.3824_3827delinsCCTT (p.Thr1275=) c.1131_1134delinsCCTT n.389_392delinsCCTT c.4781_4784delinsCCTT (p.Thr1594=) | |
11 | g.121145836C>A | CA477382885 | TBCEL-TECTA,TECTA | c.3825C>A (p.Thr1275=) c.1132C>A n.390C>A c.4782C>A (p.Thr1594=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145836C= | CA2004737557 | TBCEL-TECTA,TECTA | c.3825C= (p.Thr1275=) c.1132C= n.390C= c.4782C= (p.Thr1594=) | |
11 | g.121145836C>G | CA477382886 | TBCEL-TECTA,TECTA | c.3825C>G (p.Thr1275=) c.1132C>G n.390C>G c.4782C>G (p.Thr1594=) | |
11 | g.121145836C>T | CA6327294 | TBCEL-TECTA,TECTA | c.3825C>T (p.Thr1275=) c.1132C>T n.390C>T c.4782C>T (p.Thr1594=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145838_121145840del | CA2004737556 | TBCEL-TECTA,TECTA | c.3827_3829del (p.Phe1276del) c.1134_1136del n.392_394del c.4784_4786del (p.Phe1595del) | dbSNP |
11 | g.121145837T>A | CA383022587 | TBCEL-TECTA,TECTA | c.3826T>A (p.Phe1276Ile) c.1133T>A n.391T>A c.4783T>A (p.Phe1595Ile) | |
11 | g.121145837T>C | CA383022588 | TBCEL-TECTA,TECTA | c.3826T>C (p.Phe1276Leu) c.1133T>C n.391T>C c.4783T>C (p.Phe1595Leu) | |
11 | g.121145837T>G | CA383022589 | TBCEL-TECTA,TECTA | c.3826T>G (p.Phe1276Val) c.1133T>G n.391T>G c.4783T>G (p.Phe1595Val) | |
11 | g.121145838T>A | CA383022590 | TBCEL-TECTA,TECTA | c.3827T>A (p.Phe1276Tyr) c.1134T>A n.392T>A c.4784T>A (p.Phe1595Tyr) | |
11 | g.121145838T>C | CA383022591 | TBCEL-TECTA,TECTA | c.3827T>C (p.Phe1276Ser) c.1134T>C n.392T>C c.4784T>C (p.Phe1595Ser) | |
11 | g.121145838T>G | CA383022592 | TBCEL-TECTA,TECTA | c.3827T>G (p.Phe1276Cys) c.1134T>G n.392T>G c.4784T>G (p.Phe1595Cys) | ClinVar dbSNP |
11 | g.121145839C>A | CA383022593 | TBCEL-TECTA,TECTA | c.3828C>A (p.Phe1276Leu) c.1135C>A n.393C>A c.4785C>A (p.Phe1595Leu) | |
11 | g.121145839C= | CA2004737558 | TBCEL-TECTA,TECTA | c.3828C= (p.Phe1276=) c.1135C= n.393C= c.4785C= (p.Phe1595=) | |
11 | g.121145839C>G | CA383022594 | TBCEL-TECTA,TECTA | c.3828C>G (p.Phe1276Leu) c.1135C>G n.393C>G c.4785C>G (p.Phe1595Leu) | |
11 | g.121145839C>T | CA6327295 | TBCEL-TECTA,TECTA | c.3828C>T (p.Phe1276=) c.1135C>T n.393C>T c.4785C>T (p.Phe1595=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145840T>A | CA383022595 | TBCEL-TECTA,TECTA | c.3829T>A (p.Cys1277Ser) c.1136T>A n.394T>A c.4786T>A (p.Cys1596Ser) | |
11 | g.121145840T>C | CA383022596 | TBCEL-TECTA,TECTA | c.3829T>C (p.Cys1277Arg) c.1136T>C n.394T>C c.4786T>C (p.Cys1596Arg) | |
11 | g.121145840T>G | CA383022597 | TBCEL-TECTA,TECTA | c.3829T>G (p.Cys1277Gly) c.1136T>G n.394T>G c.4786T>G (p.Cys1596Gly) | |
11 | g.121145841G>A | CA383022600 | TBCEL-TECTA,TECTA | c.3830G>A (p.Cys1277Tyr) c.1137G>A n.395G>A c.4787G>A (p.Cys1596Tyr) | |
11 | g.121145841G>C | CA383022599 | TBCEL-TECTA,TECTA | c.3830G>C (p.Cys1277Ser) c.1137G>C n.395G>C c.4787G>C (p.Cys1596Ser) | |
11 | g.121145841G= | CA2004737559 | TBCEL-TECTA,TECTA | c.3830G= (p.Cys1277=) c.1137G= n.395G= c.4787G= (p.Cys1596=) | |
11 | g.121145841G>T | CA383022598 | TBCEL-TECTA,TECTA | c.3830G>T (p.Cys1277Phe) c.1137G>T n.395G>T c.4787G>T (p.Cys1596Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.121145842C>A | CA383022601 | TBCEL-TECTA,TECTA | c.3831C>A (p.Cys1277Ter) c.1138C>A n.396C>A c.4788C>A (p.Cys1596Ter) | |
11 | g.121145842C>G | CA383022602 | TBCEL-TECTA,TECTA | c.3831C>G (p.Cys1277Trp) c.1138C>G n.396C>G c.4788C>G (p.Cys1596Trp) | |
11 | g.121145842C>T | CA477382889 | TBCEL-TECTA,TECTA | c.3831C>T (p.Cys1277=) c.1138C>T n.396C>T c.4788C>T (p.Cys1596=) | |
11 | g.121145843C>A | CA383022603 | TBCEL-TECTA,TECTA | c.3832C>A (p.Gln1278Lys) c.1139C>A n.397C>A c.4789C>A (p.Gln1597Lys) | gnomAD v4 |
11 | g.121145843C>G | CA383022604 | TBCEL-TECTA,TECTA | c.3832C>G (p.Gln1278Glu) c.1139C>G n.397C>G c.4789C>G (p.Gln1597Glu) | |
11 | g.121145843C>T | CA383022605 | TBCEL-TECTA,TECTA | c.3832C>T (p.Gln1278Ter) c.1139C>T n.397C>T c.4789C>T (p.Gln1597Ter) | |
11 | g.121145844A>C | CA383022606 | TBCEL-TECTA,TECTA | c.3833A>C (p.Gln1278Pro) c.1140A>C n.398A>C c.4790A>C (p.Gln1597Pro) | |
11 | g.121145844A>G | CA383022607 | TBCEL-TECTA,TECTA | c.3833A>G (p.Gln1278Arg) c.1140A>G n.398A>G c.4790A>G (p.Gln1597Arg) | |
11 | g.121145844A>T | CA383022608 | TBCEL-TECTA,TECTA | c.3833A>T (p.Gln1278Leu) c.1140A>T n.398A>T c.4790A>T (p.Gln1597Leu) | |
11 | g.121145845G>A | CA477382891 | TBCEL-TECTA,TECTA | c.3834G>A (p.Gln1278=) c.1141G>A n.399G>A c.4791G>A (p.Gln1597=) | |
11 | g.121145845G>C | CA383022609 | TBCEL-TECTA,TECTA | c.3834G>C (p.Gln1278His) c.1141G>C n.399G>C c.4791G>C (p.Gln1597His) | |
11 | g.121145845G>T | CA383022610 | TBCEL-TECTA,TECTA | c.3834G>T (p.Gln1278His) c.1141G>T n.399G>T c.4791G>T (p.Gln1597His) | |
11 | g.121145846G>A | CA383022611 | TBCEL-TECTA,TECTA | c.3835G>A (p.Val1279Met) c.1142G>A n.400G>A c.4792G>A (p.Val1598Met) | dbSNP |
11 | g.121145846G>C | CA383022612 | TBCEL-TECTA,TECTA | c.3835G>C (p.Val1279Leu) c.1142G>C n.400G>C c.4792G>C (p.Val1598Leu) | |
11 | g.121145846G= | CA2004737560 | TBCEL-TECTA,TECTA | c.3835G= (p.Val1279=) c.1142G= n.400G= c.4792G= (p.Val1598=) | |
11 | g.121145846G>T | CA383022613 | TBCEL-TECTA,TECTA | c.3835G>T (p.Val1279Leu) c.1142G>T n.400G>T c.4792G>T (p.Val1598Leu) | |
11 | g.121145847T>A | CA383022615 | TBCEL-TECTA,TECTA | c.3836T>A (p.Val1279Glu) c.1143T>A n.401T>A c.4793T>A (p.Val1598Glu) | |
11 | g.121145847T>C | CA383022616 | TBCEL-TECTA,TECTA | c.3836T>C (p.Val1279Ala) c.1143T>C n.401T>C c.4793T>C (p.Val1598Ala) | |
11 | g.121145847T>G | CA383022614 | TBCEL-TECTA,TECTA | c.3836T>G (p.Val1279Gly) c.1143T>G n.401T>G c.4793T>G (p.Val1598Gly) | gnomAD v4 |
11 | g.121145848G>A | CA6327296 | TBCEL-TECTA,TECTA | c.3837G>A (p.Val1279=) c.1144G>A n.402G>A c.4794G>A (p.Val1598=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145848G>C | CA477382896 | TBCEL-TECTA,TECTA | c.3837G>C (p.Val1279=) c.1144G>C n.402G>C c.4794G>C (p.Val1598=) | |
11 | g.121145848G= | CA2004737561 | TBCEL-TECTA,TECTA | c.3837G= (p.Val1279=) c.1144G= n.402G= c.4794G= (p.Val1598=) | |
11 | g.121145848G>T | CA477382893 | TBCEL-TECTA,TECTA | c.3837G>T (p.Val1279=) c.1144G>T n.402G>T c.4794G>T (p.Val1598=) | |
11 | g.121145849G>A | CA6327297 | TBCEL-TECTA,TECTA | c.3838G>A (p.Gly1280Ser) c.1145G>A n.403G>A c.4795G>A (p.Gly1599Ser) | dbSNP ExAC gnomAD v2 |
11 | g.121145849G>C | CA383022617 | TBCEL-TECTA,TECTA | c.3838G>C (p.Gly1280Arg) c.1145G>C n.403G>C c.4795G>C (p.Gly1599Arg) | |
11 | g.121145849G= | CA2004737562 | TBCEL-TECTA,TECTA | c.3838G= (p.Gly1280=) c.1145G= n.403G= c.4795G= (p.Gly1599=) | |
11 | g.121145849G>T | CA383022618 | TBCEL-TECTA,TECTA | c.3838G>T (p.Gly1280Cys) c.1145G>T n.403G>T c.4795G>T (p.Gly1599Cys) | |
11 | g.121145850G>A | CA383022619 | TBCEL-TECTA,TECTA | c.3839G>A (p.Gly1280Asp) c.1146G>A n.404G>A c.4796G>A (p.Gly1599Asp) | |
11 | g.121145850G>C | CA383022620 | TBCEL-TECTA,TECTA | c.3839G>C (p.Gly1280Ala) c.1146G>C n.404G>C c.4796G>C (p.Gly1599Ala) | |
11 | g.121145850G>T | CA383022621 | TBCEL-TECTA,TECTA | c.3839G>T (p.Gly1280Val) c.1146G>T n.404G>T c.4796G>T (p.Gly1599Val) | |
11 | g.121145851C>A | CA477382900 | TBCEL-TECTA,TECTA | c.3840C>A (p.Gly1280=) c.1147C>A n.405C>A c.4797C>A (p.Gly1599=) | |
11 | g.121145851C>G | CA477382897 | TBCEL-TECTA,TECTA | c.3840C>G (p.Gly1280=) c.1147C>G n.405C>G c.4797C>G (p.Gly1599=) | |
11 | g.121145851C>T | CA477382899 | TBCEL-TECTA,TECTA | c.3840C>T (p.Gly1280=) c.1147C>T n.405C>T c.4797C>T (p.Gly1599=) | |
11 | g.121145852T>A | CA383022622 | TBCEL-TECTA,TECTA | c.3841T>A (p.Cys1281Ser) c.1148T>A n.406T>A c.4798T>A (p.Cys1600Ser) | |
11 | g.121145852T>C | CA383022623 | TBCEL-TECTA,TECTA | c.3841T>C (p.Cys1281Arg) c.1148T>C n.406T>C c.4798T>C (p.Cys1600Arg) | |
11 | g.121145852T>G | CA383022624 | TBCEL-TECTA,TECTA | c.3841T>G (p.Cys1281Gly) c.1148T>G n.406T>G c.4798T>G (p.Cys1600Gly) | |
11 | g.121145853G>A | CA383022625 | TBCEL-TECTA,TECTA | c.3842G>A (p.Cys1281Tyr) c.1149G>A n.407G>A c.4799G>A (p.Cys1600Tyr) | gnomAD v4 |
11 | g.121145853G>C | CA383022626 | TBCEL-TECTA,TECTA | c.3842G>C (p.Cys1281Ser) c.1149G>C n.407G>C c.4799G>C (p.Cys1600Ser) | |
11 | g.121145853G= | CA2004737563 | TBCEL-TECTA,TECTA | c.3842G= (p.Cys1281=) c.1149G= n.407G= c.4799G= (p.Cys1600=) | |
11 | g.121145853G>T | CA383022627 | TBCEL-TECTA,TECTA | c.3842G>T (p.Cys1281Phe) c.1149G>T n.407G>T c.4799G>T (p.Cys1600Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145854T>A | CA383022628 | TBCEL-TECTA,TECTA | c.3843T>A (p.Cys1281Ter) c.1150T>A n.408T>A c.4800T>A (p.Cys1600Ter) | |
11 | g.121145854T>C | CA477382901 | TBCEL-TECTA,TECTA | c.3843T>C (p.Cys1281=) c.1150T>C n.408T>C c.4800T>C (p.Cys1600=) | |
11 | g.121145854T>G | CA383022629 | TBCEL-TECTA,TECTA | c.3843T>G (p.Cys1281Trp) c.1150T>G n.408T>G c.4800T>G (p.Cys1600Trp) | |
11 | g.121145855G>A | CA383022632 | TBCEL-TECTA,TECTA | c.3844G>A (p.Gly1282Arg) c.1151G>A n.409G>A c.4801G>A (p.Gly1601Arg) | |
11 | g.121145855G>C | CA383022630 | TBCEL-TECTA,TECTA | c.3844G>C (p.Gly1282Arg) c.1151G>C n.409G>C c.4801G>C (p.Gly1601Arg) | |
11 | g.121145855G>T | CA383022631 | TBCEL-TECTA,TECTA | c.3844G>T (p.Gly1282Trp) c.1151G>T n.409G>T c.4801G>T (p.Gly1601Trp) | |
11 | g.121145856G>A | CA383022633 | TBCEL-TECTA,TECTA | c.3845G>A (p.Gly1282Glu) c.1152G>A n.410G>A c.4802G>A (p.Gly1601Glu) | |
11 | g.121145856G>C | CA383022634 | TBCEL-TECTA,TECTA | c.3845G>C (p.Gly1282Ala) c.1152G>C n.410G>C c.4802G>C (p.Gly1601Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145856G= | CA2004737564 | TBCEL-TECTA,TECTA | c.3845G= (p.Gly1282=) c.1152G= n.410G= c.4802G= (p.Gly1601=) | |
11 | g.121145856G>T | CA6327298 | TBCEL-TECTA,TECTA | c.3845G>T (p.Gly1282Val) c.1152G>T n.410G>T c.4802G>T (p.Gly1601Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145857G>A | CA477382903 | TBCEL-TECTA,TECTA | c.3846G>A (p.Gly1282=) c.1153G>A n.411G>A c.4803G>A (p.Gly1601=) | |
11 | g.121145857G>C | CA477382904 | TBCEL-TECTA,TECTA | c.3846G>C (p.Gly1282=) c.1153G>C n.411G>C c.4803G>C (p.Gly1601=) | |
11 | g.121145857G>T | CA477382905 | TBCEL-TECTA,TECTA | c.3846G>T (p.Gly1282=) c.1153G>T n.411G>T c.4803G>T (p.Gly1601=) | gnomAD v4 |
11 | g.121145858G>A | CA383022635 | TBCEL-TECTA,TECTA | c.3847G>A (p.Asp1283Asn) c.1154G>A n.412G>A c.4804G>A (p.Asp1602Asn) | |
11 | g.121145858G>C | CA383022636 | TBCEL-TECTA,TECTA | c.3847G>C (p.Asp1283His) c.1154G>C n.412G>C c.4804G>C (p.Asp1602His) | |
11 | g.121145858G>T | CA383022637 | TBCEL-TECTA,TECTA | c.3847G>T (p.Asp1283Tyr) c.1154G>T n.412G>T c.4804G>T (p.Asp1602Tyr) | |
11 | g.121145859A= | CA2004737565 | TBCEL-TECTA,TECTA | c.3848A= (p.Asp1283=) c.1155A= n.413A= c.4805A= (p.Asp1602=) | |
11 | g.121145859A>C | CA383022638 | TBCEL-TECTA,TECTA | c.3848A>C (p.Asp1283Ala) c.1155A>C n.413A>C c.4805A>C (p.Asp1602Ala) | |
11 | g.121145859A>G | CA6327299 | TBCEL-TECTA,TECTA | c.3848A>G (p.Asp1283Gly) c.1155A>G n.413A>G c.4805A>G (p.Asp1602Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145859A>T | CA383022639 | TBCEL-TECTA,TECTA | c.3848A>T (p.Asp1283Val) c.1155A>T n.413A>T c.4805A>T (p.Asp1602Val) | |
11 | g.121145860C>A | CA383022640 | TBCEL-TECTA,TECTA | c.3849C>A (p.Asp1283Glu) c.1156C>A n.414C>A c.4806C>A (p.Asp1602Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145860C= | CA2004737566 | TBCEL-TECTA,TECTA | c.3849C= (p.Asp1283=) c.1156C= n.414C= c.4806C= (p.Asp1602=) | |
11 | g.121145860C>G | CA383022641 | TBCEL-TECTA,TECTA | c.3849C>G (p.Asp1283Glu) c.1156C>G n.414C>G c.4806C>G (p.Asp1602Glu) | |
11 | g.121145860C>T | CA477382906 | TBCEL-TECTA,TECTA | c.3849C>T (p.Asp1283=) c.1156C>T n.414C>T c.4806C>T (p.Asp1602=) | gnomAD v4 |
11 | g.121145861C>A | CA229831515 | TBCEL-TECTA,TECTA | c.3850C>A (p.Arg1284Ser) c.1157C>A n.415C>A c.4807C>A (p.Arg1603Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145861C= | CA2004737567 | TBCEL-TECTA,TECTA | c.3850C= (p.Arg1284=) c.1157C= n.415C= c.4807C= (p.Arg1603=) | |
11 | g.121145861C>G | CA383022643 | TBCEL-TECTA,TECTA | c.3850C>G (p.Arg1284Gly) c.1157C>G n.415C>G c.4807C>G (p.Arg1603Gly) | |
11 | g.121145861C>T | CA383022642 | TBCEL-TECTA,TECTA | c.3850C>T (p.Arg1284Cys) c.1157C>T n.415C>T c.4807C>T (p.Arg1603Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.121145862G>A | CA6327300 | TBCEL-TECTA,TECTA | c.3851G>A (p.Arg1284His) c.1158G>A n.416G>A c.4808G>A (p.Arg1603His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145862G>C | CA383022644 | TBCEL-TECTA,TECTA | c.3851G>C (p.Arg1284Pro) c.1158G>C n.416G>C c.4808G>C (p.Arg1603Pro) | |
11 | g.121145862G= | CA2004737568 | TBCEL-TECTA,TECTA | c.3851G= (p.Arg1284=) c.1158G= n.416G= c.4808G= (p.Arg1603=) | |
11 | g.121145862G>T | CA383022645 | TBCEL-TECTA,TECTA | c.3851G>T (p.Arg1284Leu) c.1158G>T n.416G>T c.4808G>T (p.Arg1603Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145863C>A | CA477382909 | TBCEL-TECTA,TECTA | c.3852C>A (p.Arg1284=) c.1159C>A n.417C>A c.4809C>A (p.Arg1603=) | |
11 | g.121145863C>G | CA477382910 | TBCEL-TECTA,TECTA | c.3852C>G (p.Arg1284=) c.1159C>G n.417C>G c.4809C>G (p.Arg1603=) | |
11 | g.121145863C>T | CA477382911 | TBCEL-TECTA,TECTA | c.3852C>T (p.Arg1284=) c.1159C>T n.417C>T c.4809C>T (p.Arg1603=) | |
11 | g.121145864T>A | CA383022646 | TBCEL-TECTA,TECTA | c.3853T>A (p.Cys1285Ser) c.1160T>A n.418T>A c.4810T>A (p.Cys1604Ser) | |
11 | g.121145864T>C | CA383022647 | TBCEL-TECTA,TECTA | c.3853T>C (p.Cys1285Arg) c.1160T>C n.418T>C c.4810T>C (p.Cys1604Arg) | |
11 | g.121145864T>G | CA383022648 | TBCEL-TECTA,TECTA | c.3853T>G (p.Cys1285Gly) c.1160T>G n.418T>G c.4810T>G (p.Cys1604Gly) | |
11 | g.121145865G>A | CA383022650 | TBCEL-TECTA,TECTA | c.3854G>A (p.Cys1285Tyr) c.1161G>A n.419G>A c.4811G>A (p.Cys1604Tyr) | |
11 | g.121145865G>C | CA16616916 | TBCEL-TECTA,TECTA | c.3854G>C (p.Cys1285Ser) c.1161G>C n.419G>C c.4811G>C (p.Cys1604Ser) | ClinVar dbSNP |
11 | g.121145865G= | CA2004737569 | TBCEL-TECTA,TECTA | c.3854G= (p.Cys1285=) c.1161G= n.419G= c.4811G= (p.Cys1604=) | |
11 | g.121145865G>T | CA383022649 | TBCEL-TECTA,TECTA | c.3854G>T (p.Cys1285Phe) c.1161G>T n.419G>T c.4811G>T (p.Cys1604Phe) | |
11 | g.121145866T>A | CA383022651 | TBCEL-TECTA,TECTA | c.3855T>A (p.Cys1285Ter) c.1162T>A n.420T>A c.4812T>A (p.Cys1604Ter) | |
11 | g.121145866T>C | CA477382914 | TBCEL-TECTA,TECTA | c.3855T>C (p.Cys1285=) c.1162T>C n.420T>C c.4812T>C (p.Cys1604=) | |
11 | g.121145866T>G | CA383022652 | TBCEL-TECTA,TECTA | c.3855T>G (p.Cys1285Trp) c.1162T>G n.420T>G c.4812T>G (p.Cys1604Trp) | |
11 | g.121145867C>A | CA383022653 | TBCEL-TECTA,TECTA | c.3856C>A (p.Pro1286Thr) c.1163C>A n.421C>A c.4813C>A (p.Pro1605Thr) | |
11 | g.121145867C>G | CA383022654 | TBCEL-TECTA,TECTA | c.3856C>G (p.Pro1286Ala) c.1163C>G n.421C>G c.4813C>G (p.Pro1605Ala) | |
11 | g.121145867C>T | CA383022655 | TBCEL-TECTA,TECTA | c.3856C>T (p.Pro1286Ser) c.1163C>T n.421C>T c.4813C>T (p.Pro1605Ser) | |
11 | g.121145868C>A | CA383022656 | TBCEL-TECTA,TECTA | c.3857C>A (p.Pro1286Gln) c.1164C>A n.422C>A c.4814C>A (p.Pro1605Gln) | gnomAD v4 |
11 | g.121145868C= | CA2004737570 | TBCEL-TECTA,TECTA | c.3857C= (p.Pro1286=) c.1164C= n.422C= c.4814C= (p.Pro1605=) | |
11 | g.121145868C>G | CA383022657 | TBCEL-TECTA,TECTA | c.3857C>G (p.Pro1286Arg) c.1164C>G n.422C>G c.4814C>G (p.Pro1605Arg) | |
11 | g.121145868C>T | CA6327301 | TBCEL-TECTA,TECTA | c.3857C>T (p.Pro1286Leu) c.1164C>T n.422C>T c.4814C>T (p.Pro1605Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145869G>A | CA6327302 | TBCEL-TECTA,TECTA | c.3858G>A (p.Pro1286=) c.1165G>A n.423G>A c.4815G>A (p.Pro1605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145869G>C | CA477382916 | TBCEL-TECTA,TECTA | c.3858G>C (p.Pro1286=) c.1165G>C n.423G>C c.4815G>C (p.Pro1605=) | |
11 | g.121145869G= | CA2004737571 | TBCEL-TECTA,TECTA | c.3858G= (p.Pro1286=) c.1165G= n.423G= c.4815G= (p.Pro1605=) | |
11 | g.121145869G>T | CA477382917 | TBCEL-TECTA,TECTA | c.3858G>T (p.Pro1286=) c.1165G>T n.423G>T c.4815G>T (p.Pro1605=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145870T>A | CA383022658 | TBCEL-TECTA,TECTA | c.3859T>A (p.Ser1287Thr) c.1166T>A n.424T>A c.4816T>A (p.Ser1606Thr) | |
11 | g.121145870T>C | CA383022659 | TBCEL-TECTA,TECTA | c.3859T>C (p.Ser1287Pro) c.1166T>C n.424T>C c.4816T>C (p.Ser1606Pro) | dbSNP gnomAD v4 |
11 | g.121145870T>G | CA383022660 | TBCEL-TECTA,TECTA | c.3859T>G (p.Ser1287Ala) c.1166T>G n.424T>G c.4816T>G (p.Ser1606Ala) | |
11 | g.121145870T= | CA2004737572 | TBCEL-TECTA,TECTA | c.3859T= (p.Ser1287=) c.1166T= n.424T= c.4816T= (p.Ser1606=) | |
11 | g.121145871C>A | CA383022661 | TBCEL-TECTA,TECTA | c.3860C>A (p.Ser1287Tyr) c.1167C>A n.425C>A c.4817C>A (p.Ser1606Tyr) | |
11 | g.121145871C>G | CA383022662 | TBCEL-TECTA,TECTA | c.3860C>G (p.Ser1287Cys) c.1167C>G n.425C>G c.4817C>G (p.Ser1606Cys) | |
11 | g.121145871C>T | CA383022663 | TBCEL-TECTA,TECTA | c.3860C>T (p.Ser1287Phe) c.1167C>T n.425C>T c.4817C>T (p.Ser1606Phe) | |
11 | g.121145872C>A | CA477382920 | TBCEL-TECTA,TECTA | c.3861C>A (p.Ser1287=) c.1168C>A n.426C>A c.4818C>A (p.Ser1606=) | gnomAD v4 |
11 | g.121145872C>G | CA477382921 | TBCEL-TECTA,TECTA | c.3861C>G (p.Ser1287=) c.1168C>G n.426C>G c.4818C>G (p.Ser1606=) | |
11 | g.121145872C>T | CA477382919 | TBCEL-TECTA,TECTA | c.3861C>T (p.Ser1287=) c.1168C>T n.426C>T c.4818C>T (p.Ser1606=) | |
11 | g.121145873T>A | CA383022664 | TBCEL-TECTA,TECTA | c.3862T>A (p.Cys1288Ser) c.1169T>A n.427T>A c.4819T>A (p.Cys1607Ser) | |
11 | g.121145873T>C | CA383022665 | TBCEL-TECTA,TECTA | c.3862T>C (p.Cys1288Arg) c.1169T>C n.427T>C c.4819T>C (p.Cys1607Arg) | |
11 | g.121145873T>G | CA383022666 | TBCEL-TECTA,TECTA | c.3862T>G (p.Cys1288Gly) c.1169T>G n.427T>G c.4819T>G (p.Cys1607Gly) | |
11 | g.121145874G>A | CA383022669 | TBCEL-TECTA,TECTA | c.3863G>A (p.Cys1288Tyr) c.1170G>A n.428G>A c.4820G>A (p.Cys1607Tyr) | |
11 | g.121145874G>C | CA383022668 | TBCEL-TECTA,TECTA | c.3863G>C (p.Cys1288Ser) c.1170G>C n.428G>C c.4820G>C (p.Cys1607Ser) | |
11 | g.121145874G>T | CA383022667 | TBCEL-TECTA,TECTA | c.3863G>T (p.Cys1288Phe) c.1170G>T n.428G>T c.4820G>T (p.Cys1607Phe) | |
11 | g.121145875T>A | CA383022670 | TBCEL-TECTA,TECTA | c.3864T>A (p.Cys1288Ter) c.1171T>A n.429T>A c.4821T>A (p.Cys1607Ter) | |
11 | g.121145875T>C | CA477382922 | TBCEL-TECTA,TECTA | c.3864T>C (p.Cys1288=) c.1171T>C n.429T>C c.4821T>C (p.Cys1607=) | |
11 | g.121145875T>G | CA383022671 | TBCEL-TECTA,TECTA | c.3864T>G (p.Cys1288Trp) c.1171T>G n.429T>G c.4821T>G (p.Cys1607Trp) | |
11 | g.121145876G>A | CA383022672 | TBCEL-TECTA,TECTA | c.3865G>A (p.Ala1289Thr) c.1172G>A n.430G>A c.4822G>A (p.Ala1608Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145876G>C | CA383022673 | TBCEL-TECTA,TECTA | c.3865G>C (p.Ala1289Pro) c.1172G>C n.430G>C c.4822G>C (p.Ala1608Pro) | |
11 | g.121145876G= | CA2004737573 | TBCEL-TECTA,TECTA | c.3865G= (p.Ala1289=) c.1172G= n.430G= c.4822G= (p.Ala1608=) | |
11 | g.121145876G>T | CA383022674 | TBCEL-TECTA,TECTA | c.3865G>T (p.Ala1289Ser) c.1172G>T n.430G>T c.4822G>T (p.Ala1608Ser) | |
11 | g.121145877C>A | CA383022675 | TBCEL-TECTA,TECTA | c.3866C>A (p.Ala1289Asp) c.1173C>A n.431C>A c.4823C>A (p.Ala1608Asp) | |
11 | g.121145877C= | CA2004737574 | TBCEL-TECTA,TECTA | c.3866C= (p.Ala1289=) c.1173C= n.431C= c.4823C= (p.Ala1608=) | |
11 | g.121145877C>G | CA383022676 | TBCEL-TECTA,TECTA | c.3866C>G (p.Ala1289Gly) c.1173C>G n.431C>G c.4823C>G (p.Ala1608Gly) | |
11 | g.121145877C>T | CA6327303 | TBCEL-TECTA,TECTA | c.3866C>T (p.Ala1289Val) c.1173C>T n.431C>T c.4823C>T (p.Ala1608Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145878C>A | CA477382924 | TBCEL-TECTA,TECTA | c.3867C>A (p.Ala1289=) c.1174C>A n.432C>A c.4824C>A (p.Ala1608=) | |
11 | g.121145878C>G | CA477382925 | TBCEL-TECTA,TECTA | c.3867C>G (p.Ala1289=) c.1174C>G n.432C>G c.4824C>G (p.Ala1608=) | |
11 | g.121145878C>T | CA477382923 | TBCEL-TECTA,TECTA | c.3867C>T (p.Ala1289=) c.1174C>T n.432C>T c.4824C>T (p.Ala1608=) | |
11 | g.121145879A= | CA2004737575 | TBCEL-TECTA,TECTA | c.3868A= (p.Lys1290=) c.1175A= n.433A= c.4825A= (p.Lys1609=) | |
11 | g.121145879A>C | CA383022677 | TBCEL-TECTA,TECTA | c.3868A>C (p.Lys1290Gln) c.1175A>C n.433A>C c.4825A>C (p.Lys1609Gln) | |
11 | g.121145879A>G | CA229831546 | TBCEL-TECTA,TECTA | c.3868A>G (p.Lys1290Glu) c.1175A>G n.433A>G c.4825A>G (p.Lys1609Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145879A>T | CA383022678 | TBCEL-TECTA,TECTA | c.3868A>T (p.Lys1290Ter) c.1175A>T n.433A>T c.4825A>T (p.Lys1609Ter) | |
11 | g.121145880A= | CA2004737576 | TBCEL-TECTA,TECTA | c.3869A= (p.Lys1290=) c.1176A= n.434A= c.4826A= (p.Lys1609=) | |
11 | g.121145880A>C | CA383022679 | TBCEL-TECTA,TECTA | c.3869A>C (p.Lys1290Thr) c.1176A>C n.434A>C c.4826A>C (p.Lys1609Thr) | |
11 | g.121145880A>G | CA383022680 | TBCEL-TECTA,TECTA | c.3869A>G (p.Lys1290Arg) c.1176A>G n.434A>G c.4826A>G (p.Lys1609Arg) | |
11 | g.121145880A>T | CA6327304 | TBCEL-TECTA,TECTA | c.3869A>T (p.Lys1290Met) c.1176A>T n.434A>T c.4826A>T (p.Lys1609Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145881G>A | CA229831551 | TBCEL-TECTA,TECTA | c.3870G>A (p.Lys1290=) c.1177G>A n.435G>A c.4827G>A (p.Lys1609=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145881G>C | CA383022682 | TBCEL-TECTA,TECTA | c.3870G>C (p.Lys1290Asn) c.1177G>C n.435G>C c.4827G>C (p.Lys1609Asn) | |
11 | g.121145881G= | CA2004737577 | TBCEL-TECTA,TECTA | c.3870G= (p.Lys1290=) c.1177G= n.435G= c.4827G= (p.Lys1609=) | |
11 | g.121145881G>T | CA383022681 | TBCEL-TECTA,TECTA | c.3870G>T (p.Lys1290Asn) c.1177G>T n.435G>T c.4827G>T (p.Lys1609Asn) | |
11 | g.121145882G>A | CA383022683 | TBCEL-TECTA,TECTA | c.3871G>A (p.Val1291Met) c.1178G>A n.436G>A c.4828G>A (p.Val1610Met) | gnomAD v4 |
11 | g.121145882G>C | CA383022684 | TBCEL-TECTA,TECTA | c.3871G>C (p.Val1291Leu) c.1178G>C n.436G>C c.4828G>C (p.Val1610Leu) | |
11 | g.121145882G= | CA2004737578 | TBCEL-TECTA,TECTA | c.3871G= (p.Val1291=) c.1178G= n.436G= c.4828G= (p.Val1610=) | |
11 | g.121145882G>T | CA229831559 | TBCEL-TECTA,TECTA | c.3871G>T (p.Val1291Leu) c.1178G>T n.436G>T c.4828G>T (p.Val1610Leu) | dbSNP gnomAD v4 |
11 | g.121145883T>A | CA383022685 | TBCEL-TECTA,TECTA | c.3872T>A (p.Val1291Glu) c.1179T>A n.437T>A c.4829T>A (p.Val1610Glu) | |
11 | g.121145883T>C | CA383022686 | TBCEL-TECTA,TECTA | c.3872T>C (p.Val1291Ala) c.1179T>C n.437T>C c.4829T>C (p.Val1610Ala) | |
11 | g.121145883T>G | CA383022687 | TBCEL-TECTA,TECTA | c.3872T>G (p.Val1291Gly) c.1179T>G n.437T>G c.4829T>G (p.Val1610Gly) | |
11 | g.121145884G>A | CA6327305 | TBCEL-TECTA,TECTA | c.3873G>A (p.Val1291=) c.1180G>A n.438G>A c.4830G>A (p.Val1610=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145884G>C | CA477382926 | TBCEL-TECTA,TECTA | c.3873G>C (p.Val1291=) c.1180G>C n.438G>C c.4830G>C (p.Val1610=) | |
11 | g.121145884G= | CA2004737579 | TBCEL-TECTA,TECTA | c.3873G= (p.Val1291=) c.1180G= n.438G= c.4830G= (p.Val1610=) | |
11 | g.121145884G>T | CA477382927 | TBCEL-TECTA,TECTA | c.3873G>T (p.Val1291=) c.1180G>T n.438G>T c.4830G>T (p.Val1610=) | |
11 | g.121145885G>A | CA6327306 | TBCEL-TECTA,TECTA | c.3874G>A (p.Glu1292Lys) c.1181G>A n.439G>A c.4831G>A (p.Glu1611Lys) | dbSNP ExAC |
11 | g.121145885G>C | CA383022688 | TBCEL-TECTA,TECTA | c.3874G>C (p.Glu1292Gln) c.1181G>C n.439G>C c.4831G>C (p.Glu1611Gln) | dbSNP gnomAD v4 |
11 | g.121145885G= | CA2004737580 | TBCEL-TECTA,TECTA | c.3874G= (p.Glu1292=) c.1181G= n.439G= c.4831G= (p.Glu1611=) | |
11 | g.121145885G>T | CA383022689 | TBCEL-TECTA,TECTA | c.3874G>T (p.Glu1292Ter) c.1181G>T n.439G>T c.4831G>T (p.Glu1611Ter) | |
11 | g.121145886A>C | CA383022690 | TBCEL-TECTA,TECTA | c.3875A>C (p.Glu1292Ala) c.1182A>C n.440A>C c.4832A>C (p.Glu1611Ala) | |
11 | g.121145886A>G | CA383022691 | TBCEL-TECTA,TECTA | c.3875A>G (p.Glu1292Gly) c.1182A>G n.440A>G c.4832A>G (p.Glu1611Gly) | |
11 | g.121145886A>T | CA383022692 | TBCEL-TECTA,TECTA | c.3875A>T (p.Glu1292Val) c.1182A>T n.440A>T c.4832A>T (p.Glu1611Val) | |
11 | g.121145887A>C | CA383022693 | TBCEL-TECTA,TECTA | c.3876A>C (p.Glu1292Asp) c.1183A>C n.441A>C c.4833A>C (p.Glu1611Asp) | |
11 | g.121145887A>G | CA477382928 | TBCEL-TECTA,TECTA | c.3876A>G (p.Glu1292=) c.1183A>G n.441A>G c.4833A>G (p.Glu1611=) | |
11 | g.121145887A>T | CA383022694 | TBCEL-TECTA,TECTA | c.3876A>T (p.Glu1292Asp) c.1183A>T n.441A>T c.4833A>T (p.Glu1611Asp) | |
11 | g.121145888G>A | CA383022696 | TBCEL-TECTA,TECTA | c.3877G>A (p.Gly1293Ser) c.1184G>A n.442G>A c.4834G>A (p.Gly1612Ser) | |
11 | g.121145888G>C | CA383022697 | TBCEL-TECTA,TECTA | c.3877G>C (p.Gly1293Arg) c.1184G>C n.442G>C c.4834G>C (p.Gly1612Arg) | |
11 | g.121145888G>T | CA383022695 | TBCEL-TECTA,TECTA | c.3877G>T (p.Gly1293Cys) c.1184G>T n.442G>T c.4834G>T (p.Gly1612Cys) | |
11 | g.121145889G>A | CA6327307 | TBCEL-TECTA,TECTA | c.3878G>A (p.Gly1293Asp) c.1185G>A n.443G>A c.4835G>A (p.Gly1612Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145889G>C | CA383022698 | TBCEL-TECTA,TECTA | c.3878G>C (p.Gly1293Ala) c.1185G>C n.443G>C c.4835G>C (p.Gly1612Ala) | |
11 | g.121145889G= | CA2004737581 | TBCEL-TECTA,TECTA | c.3878G= (p.Gly1293=) c.1185G= n.443G= c.4835G= (p.Gly1612=) | |
11 | g.121145889G>T | CA383022699 | TBCEL-TECTA,TECTA | c.3878G>T (p.Gly1293Val) c.1185G>T n.443G>T c.4835G>T (p.Gly1612Val) | dbSNP |
11 | g.121145890T>A | CA477382929 | TBCEL-TECTA,TECTA | c.3879T>A (p.Gly1293=) c.1186T>A n.444T>A c.4836T>A (p.Gly1612=) | gnomAD v4 |
11 | g.121145890T>C | CA477382931 | TBCEL-TECTA,TECTA | c.3879T>C (p.Gly1293=) c.1186T>C n.444T>C c.4836T>C (p.Gly1612=) | gnomAD v4 |
11 | g.121145890T>G | CA477382930 | TBCEL-TECTA,TECTA | c.3879T>G (p.Gly1293=) c.1186T>G n.444T>G c.4836T>G (p.Gly1612=) | |
11 | g.121145891T>A | CA383022700 | TBCEL-TECTA,TECTA | c.3880T>A (p.Phe1294Ile) c.1187T>A n.445T>A c.4837T>A (p.Phe1613Ile) | |
11 | g.121145891T>C | CA383022701 | TBCEL-TECTA,TECTA | c.3880T>C (p.Phe1294Leu) c.1187T>C n.445T>C c.4837T>C (p.Phe1613Leu) | |
11 | g.121145891T>G | CA383022702 | TBCEL-TECTA,TECTA | c.3880T>G (p.Phe1294Val) c.1187T>G n.445T>G c.4837T>G (p.Phe1613Val) | |
11 | g.121145892T>A | CA383022705 | TBCEL-TECTA,TECTA | c.3881T>A (p.Phe1294Tyr) c.1188T>A n.446T>A c.4838T>A (p.Phe1613Tyr) | |
11 | g.121145892T>C | CA383022703 | TBCEL-TECTA,TECTA | c.3881T>C (p.Phe1294Ser) c.1188T>C n.446T>C c.4838T>C (p.Phe1613Ser) | |
11 | g.121145892T>G | CA383022704 | TBCEL-TECTA,TECTA | c.3881T>G (p.Phe1294Cys) c.1188T>G n.446T>G c.4838T>G (p.Phe1613Cys) | |
11 | g.121145893C>A | CA383022706 | TBCEL-TECTA,TECTA | c.3882C>A (p.Phe1294Leu) c.1189C>A n.447C>A c.4839C>A (p.Phe1613Leu) | dbSNP |
11 | g.121145893C= | CA2004737582 | TBCEL-TECTA,TECTA | c.3882C= (p.Phe1294=) c.1189C= n.447C= c.4839C= (p.Phe1613=) | |
11 | g.121145893C>G | CA383022707 | TBCEL-TECTA,TECTA | c.3882C>G (p.Phe1294Leu) c.1189C>G n.447C>G c.4839C>G (p.Phe1613Leu) | |
11 | g.121145893C>T | CA477382932 | TBCEL-TECTA,TECTA | c.3882C>T (p.Phe1294=) c.1189C>T n.447C>T c.4839C>T (p.Phe1613=) | |
11 | g.121145894T>A | CA383022708 | TBCEL-TECTA,TECTA | c.3883T>A (p.Ser1295Thr) c.1190T>A n.448T>A c.4840T>A (p.Ser1614Thr) | |
11 | g.121145894T>C | CA383022709 | TBCEL-TECTA,TECTA | c.3883T>C (p.Ser1295Pro) c.1190T>C n.448T>C c.4840T>C (p.Ser1614Pro) | gnomAD v4 |
11 | g.121145894T>G | CA383022710 | TBCEL-TECTA,TECTA | c.3883T>G (p.Ser1295Ala) c.1190T>G n.448T>G c.4840T>G (p.Ser1614Ala) | |
11 | g.121145895C>A | CA383022711 | TBCEL-TECTA,TECTA | c.3884C>A (p.Ser1295Tyr) c.1191C>A n.449C>A c.4841C>A (p.Ser1614Tyr) | |
11 | g.121145895C>G | CA383022713 | TBCEL-TECTA,TECTA | c.3884C>G (p.Ser1295Cys) c.1191C>G n.449C>G c.4841C>G (p.Ser1614Cys) | |
11 | g.121145895C>T | CA383022712 | TBCEL-TECTA,TECTA | c.3884C>T (p.Ser1295Phe) c.1191C>T n.449C>T c.4841C>T (p.Ser1614Phe) | COSMIC |
11 | g.121145896C>A | CA477382933 | TBCEL-TECTA,TECTA | c.3885C>A (p.Ser1295=) c.1192C>A n.450C>A c.4842C>A (p.Ser1614=) | |
11 | g.121145896C>G | CA477382934 | TBCEL-TECTA,TECTA | c.3885C>G (p.Ser1295=) c.1192C>G n.450C>G c.4842C>G (p.Ser1614=) | gnomAD v4 |
11 | g.121145896C>T | CA477382935 | TBCEL-TECTA,TECTA | c.3885C>T (p.Ser1295=) c.1192C>T n.450C>T c.4842C>T (p.Ser1614=) | |
11 | g.121145897A>C | CA383022714 | TBCEL-TECTA,TECTA | c.3886A>C (p.Lys1296Gln) c.1193A>C n.451A>C c.4843A>C (p.Lys1615Gln) | |
11 | g.121145897A>G | CA383022715 | TBCEL-TECTA,TECTA | c.3886A>G (p.Lys1296Glu) c.1193A>G n.451A>G c.4843A>G (p.Lys1615Glu) | |
11 | g.121145897A>T | CA383022716 | TBCEL-TECTA,TECTA | c.3886A>T (p.Lys1296Ter) c.1193A>T n.451A>T c.4843A>T (p.Lys1615Ter) | |
11 | g.121145899del | CA645593864 | TBCEL-TECTA,TECTA | c.3888del (p.Val1297CysfsTer7) c.1195del n.453del c.4845del (p.Val1616CysfsTer7) | COSMIC |
11 | g.121145898A>C | CA383022717 | TBCEL-TECTA,TECTA | c.3887A>C (p.Lys1296Thr) c.1194A>C n.452A>C c.4844A>C (p.Lys1615Thr) | |
11 | g.121145898A>G | CA383022718 | TBCEL-TECTA,TECTA | c.3887A>G (p.Lys1296Arg) c.1194A>G n.452A>G c.4844A>G (p.Lys1615Arg) | |
11 | g.121145898A>T | CA383022719 | TBCEL-TECTA,TECTA | c.3887A>T (p.Lys1296Ile) c.1194A>T n.452A>T c.4844A>T (p.Lys1615Ile) | |
11 | g.121145899A>C | CA383022720 | TBCEL-TECTA,TECTA | c.3888A>C (p.Lys1296Asn) c.1195A>C n.453A>C c.4845A>C (p.Lys1615Asn) | |
11 | g.121145899A>G | CA477382936 | TBCEL-TECTA,TECTA | c.3888A>G (p.Lys1296=) c.1195A>G n.453A>G c.4845A>G (p.Lys1615=) | COSMIC |
11 | g.121145899A>T | CA383022721 | TBCEL-TECTA,TECTA | c.3888A>T (p.Lys1296Asn) c.1195A>T n.453A>T c.4845A>T (p.Lys1615Asn) | |
11 | g.121145900G>A | CA383022722 | TBCEL-TECTA,TECTA | c.3889G>A (p.Val1297Met) c.1196G>A n.454G>A c.4846G>A (p.Val1616Met) | |
11 | g.121145900G>C | CA383022723 | TBCEL-TECTA,TECTA | c.3889G>C (p.Val1297Leu) c.1196G>C n.454G>C c.4846G>C (p.Val1616Leu) | |
11 | g.121145900G>T | CA383022724 | TBCEL-TECTA,TECTA | c.3889G>T (p.Val1297Leu) c.1196G>T n.454G>T c.4846G>T (p.Val1616Leu) | |
11 | g.121145901T>A | CA383022725 | TBCEL-TECTA,TECTA | c.3890T>A (p.Val1297Glu) c.1197T>A n.455T>A c.4847T>A (p.Val1616Glu) | |
11 | g.121145901T>C | CA383022727 | TBCEL-TECTA,TECTA | c.3890T>C (p.Val1297Ala) c.1197T>C n.455T>C c.4847T>C (p.Val1616Ala) | dbSNP |
11 | g.121145901T>G | CA383022726 | TBCEL-TECTA,TECTA | c.3890T>G (p.Val1297Gly) c.1197T>G n.455T>G c.4847T>G (p.Val1616Gly) | |
11 | g.121145902G>A | CA477382937 | TBCEL-TECTA,TECTA | c.3891G>A (p.Val1297=) c.1198G>A n.456G>A c.4848G>A (p.Val1616=) | |
11 | g.121145902G>C | CA477382939 | TBCEL-TECTA,TECTA | c.3891G>C (p.Val1297=) c.1198G>C n.456G>C c.4848G>C (p.Val1616=) | |
11 | g.121145902G>T | CA477382938 | TBCEL-TECTA,TECTA | c.3891G>T (p.Val1297=) c.1198G>T n.456G>T c.4848G>T (p.Val1616=) | |
11 | g.121145903C>A | CA383022728 | TBCEL-TECTA,TECTA | c.3892C>A (p.Gln1298Lys) c.1199C>A n.457C>A c.4849C>A (p.Gln1617Lys) | |
11 | g.121145903C>G | CA383022730 | TBCEL-TECTA,TECTA | c.3892C>G (p.Gln1298Glu) c.1199C>G n.457C>G c.4849C>G (p.Gln1617Glu) | |
11 | g.121145903C>T | CA383022729 | TBCEL-TECTA,TECTA | c.3892C>T (p.Gln1298Ter) c.1199C>T n.457C>T c.4849C>T (p.Gln1617Ter) | |
11 | g.121145904A>C | CA383022731 | TBCEL-TECTA,TECTA | c.3893A>C (p.Gln1298Pro) c.1200A>C n.458A>C c.4850A>C (p.Gln1617Pro) | |
11 | g.121145904A>G | CA383022732 | TBCEL-TECTA,TECTA | c.3893A>G (p.Gln1298Arg) c.1200A>G n.458A>G c.4850A>G (p.Gln1617Arg) | gnomAD v4 |
11 | g.121145904A>T | CA383022733 | TBCEL-TECTA,TECTA | c.3893A>T (p.Gln1298Leu) c.1200A>T n.458A>T c.4850A>T (p.Gln1617Leu) | |
11 | g.121145905G>A | CA477382940 | TBCEL-TECTA,TECTA | c.3894G>A (p.Gln1298=) c.1201G>A n.459G>A c.4851G>A (p.Gln1617=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145905G>C | CA383022734 | TBCEL-TECTA,TECTA | c.3894G>C (p.Gln1298His) c.1201G>C n.459G>C c.4851G>C (p.Gln1617His) | |
11 | g.121145905G= | CA2004737583 | TBCEL-TECTA,TECTA | c.3894G= (p.Gln1298=) c.1201G= n.459G= c.4851G= (p.Gln1617=) | |
11 | g.121145905G>T | CA383022735 | TBCEL-TECTA,TECTA | c.3894G>T (p.Gln1298His) c.1201G>T n.459G>T c.4851G>T (p.Gln1617His) | |
11 | g.121145906C>A | CA383022736 | TBCEL-TECTA,TECTA | c.3895C>A (p.Gln1299Lys) c.1202C>A n.460C>A c.4852C>A (p.Gln1618Lys) | |
11 | g.121145906C>G | CA383022737 | TBCEL-TECTA,TECTA | c.3895C>G (p.Gln1299Glu) c.1202C>G n.460C>G c.4852C>G (p.Gln1618Glu) | gnomAD v4 |
11 | g.121145906C>T | CA383022738 | TBCEL-TECTA,TECTA | c.3895C>T (p.Gln1299Ter) c.1202C>T n.460C>T c.4852C>T (p.Gln1618Ter) |