Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878061_240878067delinsGCTGGCT | CA1339335770 | AGXT | c.982_988delinsGCTGGCT (p.Ala328=) n.760_766delinsGCTGGCT | |
2 | g.240878062_240878067del | CA275863 | AGXT | c.983_988del (p.Ala328_Tyr330delinsAsp) n.761_766del | ClinVar dbSNP |
2 | g.240878065G>A | CA351319534 | AGXT | c.986G>A (p.Gly329Asp) n.764G>A | |
2 | g.240878065G>C | CA351319535 | AGXT | c.986G>C (p.Gly329Ala) n.764G>C | |
2 | g.240878065G>T | CA351319536 | AGXT | c.986G>T (p.Gly329Val) n.764G>T | |
2 | g.240878066C>A | CA432026240 | AGXT | c.987C>A (p.Gly329=) n.765C>A | |
2 | g.240878066C= | CA1339335774 | AGXT | c.987C= (p.Gly329=) n.765C= | |
2 | g.240878066C>G | CA68180834 | AGXT | c.987C>G (p.Gly329=) n.765C>G | dbSNP |
2 | g.240878066C>T | CA2209369 | AGXT | c.987C>T (p.Gly329=) n.765C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878067T>A | CA351319539 | AGXT | c.988T>A (p.Tyr330Asn) n.766T>A | |
2 | g.240878067T>C | CA351319537 | AGXT | c.988T>C (p.Tyr330His) n.766T>C | |
2 | g.240878067T>G | CA351319538 | AGXT | c.988T>G (p.Tyr330Asp) n.766T>G | |
2 | g.240878068A= | CA1339335775 | AGXT | c.989A= (p.Tyr330=) n.767A= | |
2 | g.240878068A>C | CA351319540 | AGXT | c.989A>C (p.Tyr330Ser) n.767A>C | |
2 | g.240878068A>G | CA351319541 | AGXT | c.989A>G (p.Tyr330Cys) n.767A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878068A>T | CA351319542 | AGXT | c.989A>T (p.Tyr330Phe) n.767A>T | |
2 | g.240878069T>A | CA351319543 | AGXT | c.990T>A (p.Tyr330Ter) n.768T>A | |
2 | g.240878069T>C | CA432026243 | AGXT | c.990T>C (p.Tyr330=) n.768T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878069T>G | CA68180837 | AGXT | c.990T>G (p.Tyr330Ter) n.768T>G | dbSNP |
2 | g.240878069T= | CA1339335776 | AGXT | c.990T= (p.Tyr330=) n.768T= | |
2 | g.240878070G>A | CA351319544 | AGXT | c.991G>A (p.Asp331Asn) n.769G>A | |
2 | g.240878070G>C | CA351319546 | AGXT | c.991G>C (p.Asp331His) n.769G>C | |
2 | g.240878070G>T | CA351319545 | AGXT | c.991G>T (p.Asp331Tyr) n.769G>T | gnomAD v4 |
2 | g.240878071A>C | CA351319547 | AGXT | c.992A>C (p.Asp331Ala) n.770A>C | |
2 | g.240878071A>G | CA351319548 | AGXT | c.992A>G (p.Asp331Gly) n.770A>G | |
2 | g.240878071A>T | CA351319549 | AGXT | c.992A>T (p.Asp331Val) n.770A>T | |
2 | g.240878072C>A | CA351319550 | AGXT | c.993C>A (p.Asp331Glu) n.771C>A | |
2 | g.240878072C>G | CA351319551 | AGXT | c.993C>G (p.Asp331Glu) n.771C>G | |
2 | g.240878072C>T | CA432026256 | AGXT | c.993C>T (p.Asp331=) n.771C>T | gnomAD v4 |
2 | g.240878073T>A | CA351319552 | AGXT | c.994T>A (p.Trp332Arg) n.772T>A | |
2 | g.240878073T>C | CA351319553 | AGXT | c.994T>C (p.Trp332Arg) n.772T>C | |
2 | g.240878073T>G | CA351319554 | AGXT | c.994T>G (p.Trp332Gly) n.772T>G | |
2 | g.240878073_240878074del | CA2695197712 | AGXT | c.994_995del (p.Trp332GlufsTer14) n.772_773del | ClinVar |
2 | g.240878074G>A | CA351319555 | AGXT | c.995G>A (p.Trp332Ter) n.773G>A | gnomAD v4 |
2 | g.240878074G>C | CA351319556 | AGXT | c.995G>C (p.Trp332Ser) n.773G>C | |
2 | g.240878074G>T | CA351319557 | AGXT | c.995G>T (p.Trp332Leu) n.773G>T | |
2 | g.240878075G>A | CA275769 | AGXT | c.996G>A (p.Trp332Ter) n.774G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240878075G>C | CA68180843 | AGXT | c.996G>C (p.Trp332Cys) n.774G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878075G= | CA1339335777 | AGXT | c.996G= (p.Trp332=) n.774G= | |
2 | g.240878075G>T | CA351319558 | AGXT | c.996G>T (p.Trp332Cys) n.774G>T | |
2 | g.240878076del | CA2838954713 | AGXT | c.997del (p.Arg333GlufsTer8) n.775del | |
2 | g.240878076A= | CA1339335778 | AGXT | c.997A= (p.Arg333=) n.775A= | |
2 | g.240878076A>C | CA432026262 | AGXT | c.997A>C (p.Arg333=) n.775A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878076A>G | CA351319559 | AGXT | c.997A>G (p.Arg333Gly) n.775A>G | |
2 | g.240878076A>T | CA275772 | AGXT | c.997A>T (p.Arg333Ter) n.775A>T | ClinVar dbSNP |
2 | g.240878077G>A | CA351319560 | AGXT | c.998G>A (p.Arg333Lys) n.776G>A | |
2 | g.240878077G>C | CA351319561 | AGXT | c.998G>C (p.Arg333Thr) n.776G>C | |
2 | g.240878077G>T | CA351319562 | AGXT | c.998G>T (p.Arg333Ile) n.776G>T | gnomAD v4 |
2 | g.240878078A>C | CA351319563 | AGXT | c.999A>C (p.Arg333Ser) n.777A>C | |
2 | g.240878078A>G | CA432026269 | AGXT | c.999A>G (p.Arg333=) n.777A>G | |
2 | g.240878078A>T | CA351319564 | AGXT | c.999A>T (p.Arg333Ser) n.777A>T | |
2 | g.240878079G>A | CA2209370 | AGXT | c.1000G>A (p.Asp334Asn) n.778G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878079G>C | CA351319565 | AGXT | c.1000G>C (p.Asp334His) n.778G>C | dbSNP |
2 | g.240878079G= | CA1339335779 | AGXT | c.1000G= (p.Asp334=) n.778G= | |
2 | g.240878079G>T | CA351319566 | AGXT | c.1000G>T (p.Asp334Tyr) n.778G>T | |
2 | g.240878080A= | CA1339335780 | AGXT | c.1001A= (p.Asp334=) n.779A= | |
2 | g.240878080A>C | CA351319567 | AGXT | c.1001A>C (p.Asp334Ala) n.779A>C | |
2 | g.240878080A>G | CA2209371 | AGXT | c.1001A>G (p.Asp334Gly) n.779A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878080A>T | CA351319568 | AGXT | c.1001A>T (p.Asp334Val) n.779A>T | |
2 | g.240878081C>A | CA351319569 | AGXT | c.1002C>A (p.Asp334Glu) n.780C>A | |
2 | g.240878081C= | CA1339335781 | AGXT | c.1002C= (p.Asp334=) n.780C= | |
2 | g.240878081C>G | CA351319570 | AGXT | c.1002C>G (p.Asp334Glu) n.780C>G | |
2 | g.240878081C>T | CA2209372 | AGXT | c.1002C>T (p.Asp334=) n.780C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878082A>C | CA351319571 | AGXT | c.1003A>C (p.Ile335Leu) n.781A>C | |
2 | g.240878082A>G | CA351319572 | AGXT | c.1003A>G (p.Ile335Val) n.781A>G | |
2 | g.240878082A>T | CA351319573 | AGXT | c.1003A>T (p.Ile335Phe) n.781A>T | |
2 | g.240878083T>A | CA351319574 | AGXT | c.1004T>A (p.Ile335Asn) n.782T>A | |
2 | g.240878083T>C | CA351319575 | AGXT | c.1004T>C (p.Ile335Thr) n.782T>C | |
2 | g.240878083T>G | CA351319576 | AGXT | c.1004T>G (p.Ile335Ser) n.782T>G | |
2 | g.240878084C>A | CA432026287 | AGXT | c.1005C>A (p.Ile335=) n.783C>A | gnomAD v4 |
2 | g.240878084C= | CA1339335782 | AGXT | c.1005C= (p.Ile335=) n.783C= | |
2 | g.240878084C>G | CA351319577 | AGXT | c.1005C>G (p.Ile335Met) n.783C>G | |
2 | g.240878084C>T | CA432026288 | AGXT | c.1005C>T (p.Ile335=) n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878085G>A | CA2209373 | AGXT | c.1006G>A (p.Val336Ile) n.784G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240878085G>C | CA351319578 | AGXT | c.1006G>C (p.Val336Leu) n.784G>C | |
2 | g.240878085G= | CA1339335783 | AGXT | c.1006G= (p.Val336=) n.784G= | |
2 | g.240878085G>T | CA351319579 | AGXT | c.1006G>T (p.Val336Phe) n.784G>T | |
2 | g.240878086T>A | CA275775 | AGXT | c.1007T>A (p.Val336Asp) n.785T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878086T>C | CA351319581 | AGXT | c.1007T>C (p.Val336Ala) n.785T>C | dbSNP |
2 | g.240878086T>G | CA351319580 | AGXT | c.1007T>G (p.Val336Gly) n.785T>G | |
2 | g.240878086T= | CA1339335784 | AGXT | c.1007T= (p.Val336=) n.785T= | |
2 | g.240878087C>A | CA432026299 | AGXT | c.1008C>A (p.Val336=) n.786C>A | dbSNP |
2 | g.240878087C= | CA1339335785 | AGXT | c.1008C= (p.Val336=) n.786C= | |
2 | g.240878087C>G | CA432026301 | AGXT | c.1008C>G (p.Val336=) n.786C>G | |
2 | g.240878087C>T | CA432026297 | AGXT | c.1008C>T (p.Val336=) n.786C>T | |
2 | g.240878088A>C | CA351319584 | AGXT | c.1009A>C (p.Ser337Arg) n.787A>C | |
2 | g.240878088A>G | CA351319582 | AGXT | c.1009A>G (p.Ser337Gly) n.787A>G | |
2 | g.240878088A>T | CA351319583 | AGXT | c.1009A>T (p.Ser337Cys) n.787A>T | |
2 | g.240878089G>A | CA351319585 | AGXT | c.1010G>A (p.Ser337Asn) n.788G>A | |
2 | g.240878089G>C | CA351319586 | AGXT | c.1010G>C (p.Ser337Thr) n.788G>C | |
2 | g.240878089G>T | CA351319587 | AGXT | c.1010G>T (p.Ser337Ile) n.788G>T | |
2 | g.240878090C>A | CA351319588 | AGXT | c.1011C>A (p.Ser337Arg) n.789C>A | |
2 | g.240878090C>G | CA351319589 | AGXT | c.1011C>G (p.Ser337Arg) n.789C>G | |
2 | g.240878090C>T | CA432026311 | AGXT | c.1011C>T (p.Ser337=) n.789C>T | |
2 | g.240878091T>A | CA351319590 | AGXT | c.1012T>A (p.Tyr338Asn) n.790T>A | dbSNP |
2 | g.240878091T>C | CA351319591 | AGXT | c.1012T>C (p.Tyr338His) n.790T>C | |
2 | g.240878091T>G | CA351319592 | AGXT | c.1012T>G (p.Tyr338Asp) n.790T>G | |
2 | g.240878091T= | CA1339335786 | AGXT | c.1012T= (p.Tyr338=) n.790T= | |
2 | g.240878092A= | CA1339335787 | AGXT | c.1013A= (p.Tyr338=) n.791A= | |
2 | g.240878092A>C | CA351319593 | AGXT | c.1013A>C (p.Tyr338Ser) n.791A>C | |
2 | g.240878092A>G | CA351319594 | AGXT | c.1013A>G (p.Tyr338Cys) n.791A>G | |
2 | g.240878092A>T | CA2209374 | AGXT | c.1013A>T (p.Tyr338Phe) n.791A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878093C>A | CA351319595 | AGXT | c.1014C>A (p.Tyr338Ter) n.792C>A | ClinVar |
2 | g.240878093C= | CA1339335788 | AGXT | c.1014C= (p.Tyr338=) n.792C= | |
2 | g.240878093C>G | CA275776 | AGXT | c.1014C>G (p.Tyr338Ter) n.792C>G | ClinVar dbSNP |
2 | g.240878093C>T | CA2209375 | AGXT | c.1014C>T (p.Tyr338=) n.792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878094del | CA2586971646 | AGXT | c.1015del (p.Val339SerfsTer2) n.793del | |
2 | g.240878094G>A | CA2209376 | AGXT | c.1015G>A (p.Val339Ile) n.793G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878094G>C | CA351319596 | AGXT | c.1015G>C (p.Val339Leu) n.793G>C | |
2 | g.240878094G= | CA1339335789 | AGXT | c.1015G= (p.Val339=) n.793G= | |
2 | g.240878094G>T | CA351319597 | AGXT | c.1015G>T (p.Val339Phe) n.793G>T | |
2 | g.240878095T>A | CA351319598 | AGXT | c.1016T>A (p.Val339Asp) n.794T>A | |
2 | g.240878095T>C | CA351319599 | AGXT | c.1016T>C (p.Val339Ala) n.794T>C | gnomAD v4 |
2 | g.240878095T>G | CA351319600 | AGXT | c.1016T>G (p.Val339Gly) n.794T>G | |
2 | g.240878096C>A | CA432026326 | AGXT | c.1017C>A (p.Val339=) n.795C>A | |
2 | g.240878096C>G | CA432026328 | AGXT | c.1017C>G (p.Val339=) n.795C>G | |
2 | g.240878096C>T | CA432026329 | AGXT | c.1017C>T (p.Val339=) n.795C>T | gnomAD v4 |
2 | g.240878097A>C | CA351319601 | AGXT | c.1018A>C (p.Ile340Leu) n.796A>C | |
2 | g.240878097A>G | CA351319602 | AGXT | c.1018A>G (p.Ile340Val) n.796A>G | |
2 | g.240878097A>T | CA351319603 | AGXT | c.1018A>T (p.Ile340Leu) n.796A>T | |
2 | g.240878098T>A | CA351319604 | AGXT | c.1019T>A (p.Ile340Lys) n.797T>A | |
2 | g.240878098T>C | CA2209377 | AGXT | c.1019T>C (p.Ile340Thr) n.797T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878098T>G | CA351319605 | AGXT | c.1019T>G (p.Ile340Arg) n.797T>G | |
2 | g.240878098T= | CA1339335790 | AGXT | c.1019T= (p.Ile340=) n.797T= | |
2 | g.240878099A= | CA1339335791 | AGXT | c.1020A= (p.Ile340=) n.798A= | |
2 | g.240878099A>C | CA432026339 | AGXT | c.1020A>C (p.Ile340=) n.798A>C | |
2 | g.240878099A>G | CA343786 | AGXT | c.1020A>G (p.Ile340Met) n.798A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878099A>T | CA432026341 | AGXT | c.1020A>T (p.Ile340=) n.798A>T | |
2 | g.240878100G>A | CA351319608 | AGXT | c.1021G>A (p.Asp341Asn) n.799G>A | |
2 | g.240878100G>C | CA351319606 | AGXT | c.1021G>C (p.Asp341His) n.799G>C | |
2 | g.240878100G>T | CA351319607 | AGXT | c.1021G>T (p.Asp341Tyr) n.799G>T | |
2 | g.240878101A>C | CA351319609 | AGXT | c.1022A>C (p.Asp341Ala) n.800A>C | |
2 | g.240878101A>G | CA351319610 | AGXT | c.1022A>G (p.Asp341Gly) n.800A>G | |
2 | g.240878101A>T | CA351319611 | AGXT | c.1022A>T (p.Asp341Val) n.800A>T | gnomAD v4 |
2 | g.240878102C>A | CA2209378 | AGXT | c.1023C>A (p.Asp341Glu) n.801C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240878102C= | CA1339335792 | AGXT | c.1023C= (p.Asp341=) n.801C= | |
2 | g.240878102C>G | CA351319612 | AGXT | c.1023C>G (p.Asp341Glu) n.801C>G | gnomAD v4 |
2 | g.240878102C>T | CA432026351 | AGXT | c.1023C>T (p.Asp341=) n.801C>T | gnomAD v4 |
2 | g.240878103C>A | CA351319613 | AGXT | c.1024C>A (p.His342Asn) n.802C>A | |
2 | g.240878103C>G | CA351319614 | AGXT | c.1024C>G (p.His342Asp) n.802C>G | |
2 | g.240878103C>T | CA351319615 | AGXT | c.1024C>T (p.His342Tyr) n.802C>T | |
2 | g.240878104A>C | CA351319616 | AGXT | c.1025A>C (p.His342Pro) n.803A>C | |
2 | g.240878104A>G | CA351319617 | AGXT | c.1025A>G (p.His342Arg) n.803A>G | |
2 | g.240878104A>T | CA351319618 | AGXT | c.1025A>T (p.His342Leu) n.803A>T | |
2 | g.240878105C>A | CA351319620 | AGXT | c.1026C>A (p.His342Gln) n.804C>A | |
2 | g.240878105C>G | CA351319619 | AGXT | c.1026C>G (p.His342Gln) n.804C>G | |
2 | g.240878105C>T | CA432026362 | AGXT | c.1026C>T (p.His342=) n.804C>T | ClinVar dbSNP |
2 | g.240878106T>A | CA351319621 | AGXT | c.1027T>A (p.Phe343Ile) n.805T>A | gnomAD v4 |
2 | g.240878106T>C | CA351319622 | AGXT | c.1027T>C (p.Phe343Leu) n.805T>C | gnomAD v4 |
2 | g.240878106T>G | CA351319623 | AGXT | c.1027T>G (p.Phe343Val) n.805T>G | gnomAD v4 |
2 | g.240878107T>A | CA351319624 | AGXT | c.1028T>A (p.Phe343Tyr) n.806T>A | |
2 | g.240878107T>C | CA351319625 | AGXT | c.1028T>C (p.Phe343Ser) n.806T>C | |
2 | g.240878107T>G | CA351319626 | AGXT | c.1028T>G (p.Phe343Cys) n.806T>G | |
2 | g.240878107T= | CA1339335793 | AGXT | c.1028T= (p.Phe343=) n.806T= | |
2 | g.240878108C>A | CA351319627 | AGXT | c.1029C>A (p.Phe343Leu) n.807C>A | gnomAD v4 |
2 | g.240878108C= | CA1339335794 | AGXT | c.1029C= (p.Phe343=) n.807C= | |
2 | g.240878108C>G | CA351319628 | AGXT | c.1029C>G (p.Phe343Leu) n.807C>G | |
2 | g.240878108C>T | CA2209380 | AGXT | c.1029C>T (p.Phe343=) n.807C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878108dup | CA2209379 | AGXT | c.1029dup (p.Asp344ArgfsTer3) n.807dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878109G>A | CA2209381 | AGXT | c.1030G>A (p.Asp344Asn) n.808G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878109G>C | CA351319629 | AGXT | c.1030G>C (p.Asp344His) n.808G>C | |
2 | g.240878109G= | CA1339335795 | AGXT | c.1030G= (p.Asp344=) n.808G= | |
2 | g.240878109G>T | CA351319630 | AGXT | c.1030G>T (p.Asp344Tyr) n.808G>T | |
2 | g.240878110A>C | CA351319633 | AGXT | c.1031A>C (p.Asp344Ala) n.809A>C | |
2 | g.240878110A>G | CA351319632 | AGXT | c.1031A>G (p.Asp344Gly) n.809A>G | |
2 | g.240878110A>T | CA351319631 | AGXT | c.1031A>T (p.Asp344Val) n.809A>T | |
2 | g.240878111C>A | CA351319634 | AGXT | c.1032C>A (p.Asp344Glu) n.810C>A | |
2 | g.240878111C>G | CA351319635 | AGXT | c.1032C>G (p.Asp344Glu) n.810C>G | |
2 | g.240878111C>T | CA432026389 | AGXT | c.1032C>T (p.Asp344=) n.810C>T | |
2 | g.240878112A= | CA1339335796 | AGXT | c.1033A= (p.Ile345=) n.811A= | |
2 | g.240878112A>C | CA351319636 | AGXT | c.1033A>C (p.Ile345Leu) n.811A>C | |
2 | g.240878112A>G | CA68180864 | AGXT | c.1033A>G (p.Ile345Val) n.811A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878112A>T | CA2209382 | AGXT | c.1033A>T (p.Ile345Phe) n.811A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878113T>A | CA351319637 | AGXT | c.1034T>A (p.Ile345Asn) n.812T>A | |
2 | g.240878113T>C | CA351319638 | AGXT | c.1034T>C (p.Ile345Thr) n.812T>C | gnomAD v4 |
2 | g.240878113T>G | CA351319639 | AGXT | c.1034T>G (p.Ile345Ser) n.812T>G | |
2 | g.240878114T>A | CA432026408 | AGXT | c.1035T>A (p.Ile345=) n.813T>A | |
2 | g.240878114T>C | CA432026410 | AGXT | c.1035T>C (p.Ile345=) n.813T>C | |
2 | g.240878114T>G | CA351319640 | AGXT | c.1035T>G (p.Ile345Met) n.813T>G | |
2 | g.240878115G>A | CA2209383 | AGXT | c.1036G>A (p.Glu346Lys) n.814G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878115G>C | CA351319641 | AGXT | c.1036G>C (p.Glu346Gln) n.814G>C | |
2 | g.240878115G= | CA1339335797 | AGXT | c.1036G= (p.Glu346=) n.814G= | |
2 | g.240878115G>T | CA351319642 | AGXT | c.1036G>T (p.Glu346Ter) n.814G>T | |
2 | g.240878116A>C | CA351319643 | AGXT | c.1037A>C (p.Glu346Ala) n.815A>C | |
2 | g.240878116A>G | CA351319644 | AGXT | c.1037A>G (p.Glu346Gly) n.815A>G | |
2 | g.240878116A>T | CA351319645 | AGXT | c.1037A>T (p.Glu346Val) n.815A>T | |
2 | g.240878117G>A | CA432026422 | AGXT | c.1038G>A (p.Glu346=) n.816G>A | ClinVar |
2 | g.240878117G>C | CA351319646 | AGXT | c.1038G>C (p.Glu346Asp) n.816G>C | |
2 | g.240878117G>T | CA351319647 | AGXT | c.1038G>T (p.Glu346Asp) n.816G>T | |
2 | g.240878118A= | CA1339335798 | AGXT | c.1039A= (p.Ile347=) n.817A= | |
2 | g.240878118A>C | CA2209385 | AGXT | c.1039A>C (p.Ile347Leu) n.817A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878118A>G | CA2209384 | AGXT | c.1039A>G (p.Ile347Val) n.817A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878118A>T | CA351319648 | AGXT | c.1039A>T (p.Ile347Phe) n.817A>T | |
2 | g.240878119T>A | CA351319649 | AGXT | c.1040T>A (p.Ile347Asn) n.818T>A | |
2 | g.240878119T>C | CA351319650 | AGXT | c.1040T>C (p.Ile347Thr) n.818T>C | |
2 | g.240878119T>G | CA351319651 | AGXT | c.1040T>G (p.Ile347Ser) n.818T>G | |
2 | g.240878120C>A | CA432026433 | AGXT | c.1041C>A (p.Ile347=) n.819C>A | |
2 | g.240878120C= | CA1339335799 | AGXT | c.1041C= (p.Ile347=) n.819C= | |
2 | g.240878120C>G | CA351319652 | AGXT | c.1041C>G (p.Ile347Met) n.819C>G | dbSNP |
2 | g.240878120C>T | CA432026438 | AGXT | c.1041C>T (p.Ile347=) n.819C>T | ClinVar dbSNP |
2 | g.240878121A= | CA1339335800 | AGXT | c.1042A= (p.Met348=) n.820A= | |
2 | g.240878121A>C | CA351319653 | AGXT | c.1042A>C (p.Met348Leu) n.820A>C | gnomAD v4 |
2 | g.240878121A>G | CA2209386 | AGXT | c.1042A>G (p.Met348Val) n.820A>G | dbSNP ExAC gnomAD v2 |
2 | g.240878121A>T | CA351319654 | AGXT | c.1042A>T (p.Met348Leu) n.820A>T | |
2 | g.240878122T>A | CA351319655 | AGXT | c.1043T>A (p.Met348Lys) n.821T>A | |
2 | g.240878122T>C | CA351319656 | AGXT | c.1043T>C (p.Met348Thr) n.821T>C | |
2 | g.240878122T>G | CA351319657 | AGXT | c.1043T>G (p.Met348Arg) n.821T>G | |
2 | g.240878123G>A | CA351319659 | AGXT | c.1044G>A (p.Met348Ile) n.822G>A | |
2 | g.240878123G>C | CA351319660 | AGXT | c.1044G>C (p.Met348Ile) n.822G>C | |
2 | g.240878123G>T | CA351319658 | AGXT | c.1044G>T (p.Met348Ile) n.822G>T | |
2 | g.240878124G>A | CA275779 | AGXT | c.1045G>A (p.Gly349Ser) n.823G>A | ClinVar dbSNP |
2 | g.240878124G>C | CA351319661 | AGXT | c.1045G>C (p.Gly349Arg) n.823G>C | |
2 | g.240878124G= | CA1339335801 | AGXT | c.1045G= (p.Gly349=) n.823G= | |
2 | g.240878124G>T | CA351319662 | AGXT | c.1045G>T (p.Gly349Cys) n.823G>T | gnomAD v4 |
2 | g.240878124_240878125delinsAA | CA2580611734 | AGXT | c.1045_1046delinsAA (p.Gly349Asn) n.823_824delinsAA | |
2 | g.240878125G>A | CA351319663 | AGXT | c.1046G>A (p.Gly349Asp) n.824G>A | ClinVar dbSNP |
2 | g.240878125G>C | CA351319664 | AGXT | c.1046G>C (p.Gly349Ala) n.824G>C | |
2 | g.240878125G= | CA1339335802 | AGXT | c.1046G= (p.Gly349=) n.824G= | |
2 | g.240878125G>T | CA351319665 | AGXT | c.1046G>T (p.Gly349Val) n.824G>T | |
2 | g.240878126T>A | CA432026452 | AGXT | c.1047T>A (p.Gly349=) n.825T>A | |
2 | g.240878126T>C | CA432026454 | AGXT | c.1047T>C (p.Gly349=) n.825T>C | |
2 | g.240878126T>G | CA432026459 | AGXT | c.1047T>G (p.Gly349=) n.825T>G | |
2 | g.240878127G>A | CA2209387 | AGXT | c.1048G>A (p.Gly350Ser) n.826G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878127G>C | CA351319666 | AGXT | c.1048G>C (p.Gly350Arg) n.826G>C | |
2 | g.240878127G= | CA1339335803 | AGXT | c.1048G= (p.Gly350=) n.826G= | |
2 | g.240878127G>T | CA351319667 | AGXT | c.1048G>T (p.Gly350Cys) n.826G>T | |
2 | g.240878128G>A | CA274217 | AGXT | c.1049G>A (p.Gly350Asp) n.827G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878128G>C | CA351319668 | AGXT | c.1049G>C (p.Gly350Ala) n.827G>C | |
2 | g.240878128G= | CA1339335804 | AGXT | c.1049G= (p.Gly350=) n.827G= | |
2 | g.240878128G>T | CA2209388 | AGXT | c.1049G>T (p.Gly350Val) n.827G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878129C>A | CA432026465 | AGXT | c.1050C>A (p.Gly350=) n.828C>A | |
2 | g.240878129C>G | CA432026467 | AGXT | c.1050C>G (p.Gly350=) n.828C>G | |
2 | g.240878129C>T | CA432026468 | AGXT | c.1050C>T (p.Gly350=) n.828C>T | |
2 | g.240878130dup | CA2838217523 | AGXT | c.1051dup (p.Leu351ProfsTer?) n.829dup | |
2 | g.240878130C>A | CA351319670 | AGXT | c.1051C>A (p.Leu351Ile) n.829C>A | |
2 | g.240878130C= | CA1339335805 | AGXT | c.1051C= (p.Leu351=) n.829C= | |
2 | g.240878130C>G | CA351319671 | AGXT | c.1051C>G (p.Leu351Val) n.829C>G | |
2 | g.240878130C>T | CA351319669 | AGXT | c.1051C>T (p.Leu351Phe) n.829C>T | dbSNP |
2 | g.240878131T>A | CA351319672 | AGXT | c.1052T>A (p.Leu351His) n.830T>A | |
2 | g.240878131T>C | CA351319673 | AGXT | c.1052T>C (p.Leu351Pro) n.830T>C | gnomAD v4 |
2 | g.240878131T>G | CA351319674 | AGXT | c.1052T>G (p.Leu351Arg) n.830T>G | |
2 | g.240878132T>A | CA432026479 | AGXT | c.1053T>A (p.Leu351=) n.831T>A | |
2 | g.240878132T>C | CA2209389 | AGXT | c.1053T>C (p.Leu351=) n.831T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878132T>G | CA432026483 | AGXT | c.1053T>G (p.Leu351=) n.831T>G | |
2 | g.240878132T= | CA1339335806 | AGXT | c.1053T= (p.Leu351=) n.831T= | |
2 | g.240878133G>A | CA351319676 | AGXT | c.1054G>A (p.Gly352Arg) n.832G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878133G>C | CA351319675 | AGXT | c.1054G>C (p.Gly352Arg) n.832G>C | |
2 | g.240878133G= | CA1339335807 | AGXT | c.1054G= (p.Gly352=) n.832G= | |
2 | g.240878133G>T | CA68180877 | AGXT | c.1054G>T (p.Gly352Trp) n.832G>T | dbSNP gnomAD v4 |
2 | g.240878135dup | CA2843024976 | AGXT | c.1056dup (p.Pro353AlafsTer?) n.834dup | |
2 | g.240878134_240878135del | CA2843024975 | AGXT | c.1055_1056del (p.Gly352AlafsTer?) n.833_834del | |
2 | g.240878134G>A | CA351319677 | AGXT | c.1055G>A (p.Gly352Glu) n.833G>A | |
2 | g.240878134G>C | CA351319678 | AGXT | c.1055G>C (p.Gly352Ala) n.833G>C | |
2 | g.240878134G>T | CA351319679 | AGXT | c.1055G>T (p.Gly352Val) n.833G>T | |
2 | g.240878135G>A | CA432026496 | AGXT | c.1056G>A (p.Gly352=) n.834G>A | ClinVar dbSNP |
2 | g.240878135G>C | CA432026497 | AGXT | c.1056G>C (p.Gly352=) n.834G>C | |
2 | g.240878135G= | CA1339335808 | AGXT | c.1056G= (p.Gly352=) n.834G= | |
2 | g.240878135G>T | CA432026498 | AGXT | c.1056G>T (p.Gly352=) n.834G>T | ClinVar dbSNP |
2 | g.240878136C>A | CA351319680 | AGXT | c.1057C>A (p.Pro353Thr) n.835C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878136C= | CA1339335809 | AGXT | c.1057C= (p.Pro353=) n.835C= | |
2 | g.240878136C>G | CA351319681 | AGXT | c.1057C>G (p.Pro353Ala) n.835C>G | |
2 | g.240878136C>T | CA351319682 | AGXT | c.1057C>T (p.Pro353Ser) n.835C>T | |
2 | g.240878137C>A | CA351319684 | AGXT | c.1058C>A (p.Pro353His) n.836C>A | |
2 | g.240878137C= | CA1339335810 | AGXT | c.1058C= (p.Pro353=) n.836C= | |
2 | g.240878137C>G | CA351319683 | AGXT | c.1058C>G (p.Pro353Arg) n.836C>G | |
2 | g.240878137C>T | CA68180879 | AGXT | c.1058C>T (p.Pro353Leu) n.836C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.240878138C>A | CA432026512 | AGXT | c.1059C>A (p.Pro353=) n.837C>A | |
2 | g.240878138C>G | CA432026508 | AGXT | c.1059C>G (p.Pro353=) n.837C>G | |
2 | g.240878138C>T | CA432026510 | AGXT | c.1059C>T (p.Pro353=) n.837C>T | ClinVar |
2 | g.240878139T>A | CA351319685 | AGXT | c.1060T>A (p.Ser354Thr) n.838T>A | |
2 | g.240878139T>C | CA351319687 | AGXT | c.1060T>C (p.Ser354Pro) n.838T>C | |
2 | g.240878139T>G | CA351319686 | AGXT | c.1060T>G (p.Ser354Ala) n.838T>G | |
2 | g.240878140C>A | CA351319688 | AGXT | c.1061C>A (p.Ser354Tyr) n.839C>A | gnomAD v4 |
2 | g.240878140C= | CA1339335811 | AGXT | c.1061C= (p.Ser354=) n.839C= | |
2 | g.240878140C>G | CA351319689 | AGXT | c.1061C>G (p.Ser354Cys) n.839C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878140C>T | CA351319690 | AGXT | c.1061C>T (p.Ser354Phe) n.839C>T | |
2 | g.240878141C>A | CA432026518 | AGXT | c.1062C>A (p.Ser354=) n.840C>A | |
2 | g.240878141C>G | CA432026520 | AGXT | c.1062C>G (p.Ser354=) n.840C>G | |
2 | g.240878141C>T | CA432026522 | AGXT | c.1062C>T (p.Ser354=) n.840C>T | |
2 | g.240878142A= | CA1339335812 | AGXT | c.1063A= (p.Thr355=) n.841A= | |
2 | g.240878142A>C | CA351319691 | AGXT | c.1063A>C (p.Thr355Pro) n.841A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878142A>G | CA351319692 | AGXT | c.1063A>G (p.Thr355Ala) n.841A>G | gnomAD v4 |
2 | g.240878142A>T | CA351319693 | AGXT | c.1063A>T (p.Thr355Ser) n.841A>T | |
2 | g.240878143C>A | CA2209390 | AGXT | c.1064C>A (p.Thr355Lys) n.842C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878143C= | CA1339335813 | AGXT | c.1064C= (p.Thr355=) n.842C= | |
2 | g.240878143C>G | CA351319694 | AGXT | c.1064C>G (p.Thr355Arg) n.842C>G | |
2 | g.240878143C>T | CA2209391 | AGXT | c.1064C>T (p.Thr355Met) n.842C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878144G>A | CA2209392 | AGXT | c.1065G>A (p.Thr355=) n.843G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878144G>C | CA2209393 | AGXT | c.1065G>C (p.Thr355=) n.843G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878144G= | CA1339335814 | AGXT | c.1065G= (p.Thr355=) n.843G= | |
2 | g.240878144G>T | CA432026529 | AGXT | c.1065G>T (p.Thr355=) n.843G>T | |
2 | g.240878145G>A | CA351319697 | AGXT | c.1066G>A (p.Gly356Arg) n.844G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878145G>C | CA351319696 | AGXT | c.1066G>C (p.Gly356Arg) n.844G>C | |
2 | g.240878145G= | CA1339335815 | AGXT | c.1066G= (p.Gly356=) n.844G= | |
2 | g.240878145G>T | CA351319695 | AGXT | c.1066G>T (p.Gly356Trp) n.844G>T | |
2 | g.240878146G>A | CA351319698 | AGXT | c.1067G>A (p.Gly356Glu) n.845G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878146G>C | CA351319699 | AGXT | c.1067G>C (p.Gly356Ala) n.845G>C | |
2 | g.240878146G= | CA1339335816 | AGXT | c.1067G= (p.Gly356=) n.845G= | |
2 | g.240878146G>T | CA351319700 | AGXT | c.1067G>T (p.Gly356Val) n.845G>T | gnomAD v4 |
2 | g.240878147G>A | CA432026536 | AGXT | c.1068G>A (p.Gly356=) n.846G>A | gnomAD v4 |
2 | g.240878147G>C | CA2209394 | AGXT | c.1068G>C (p.Gly356=) n.846G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878147G= | CA1339335817 | AGXT | c.1068G= (p.Gly356=) n.846G= | |
2 | g.240878147G>T | CA432026540 | AGXT | c.1068G>T (p.Gly356=) n.846G>T | |
2 | g.240878148A>C | CA351319701 | AGXT | c.1069A>C (p.Lys357Gln) n.847A>C | |
2 | g.240878148A>G | CA351319702 | AGXT | c.1069A>G (p.Lys357Glu) n.847A>G | |
2 | g.240878148A>T | CA351319703 | AGXT | c.1069A>T (p.Lys357Ter) n.847A>T | |
2 | g.240878149del | CA2838217524 | AGXT | c.1070del (p.Lys357ArgfsTer20) n.848del | |
2 | g.240878149A>C | CA351319704 | AGXT | c.1070A>C (p.Lys357Thr) n.848A>C | |
2 | g.240878149A>G | CA351319705 | AGXT | c.1070A>G (p.Lys357Arg) n.848A>G | gnomAD v4 |
2 | g.240878149A>T | CA351319706 | AGXT | c.1070A>T (p.Lys357Met) n.848A>T | |
2 | g.240878150G>A | CA432026546 | AGXT | c.1071G>A (p.Lys357=) n.849G>A | |
2 | g.240878150G>C | CA351319707 | AGXT | c.1071G>C (p.Lys357Asn) n.849G>C | |
2 | g.240878150G>T | CA351319708 | AGXT | c.1071G>T (p.Lys357Asn) n.849G>T | gnomAD v4 |
2 | g.240878151G>A | CA275802 | AGXT | c.1071+1G>A (n.1071+1G>A) n.849+1G>A | ClinVar dbSNP |
2 | g.240878151G>C | CA351319710 | AGXT | c.1071+1G>C (n.1071+1G>C) n.849+1G>C | |
2 | g.240878151G= | CA1339335818 | AGXT | c.1071+1G= (n.1071+1G=) n.849+1G= | |
2 | g.240878151G>T | CA351319709 | AGXT | c.1071+1G>T (n.1071+1G>T) n.849+1G>T | |
2 | g.240878152T>A | CA351319711 | AGXT | c.1071+2T>A (n.1071+2T>A) n.849+2T>A | |
2 | g.240878152T>C | CA351319712 | AGXT | c.1071+2T>C (n.1071+2T>C) n.849+2T>C | |
2 | g.240878152T>G | CA351319713 | AGXT | c.1071+2T>G (n.1071+2T>G) n.849+2T>G | |
2 | g.240878153G>A | CA766958614 | AGXT | c.1071+3G>A (n.1071+3G>A) n.849+3G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878153G= | CA1339335819 | AGXT | c.1071+3G= (n.1071+3G=) n.849+3G= | |
2 | g.240878155G>C | CA2664012019 | AGXT | c.1071+5G>C (n.1071+5G>C) n.849+5G>C | gnomAD v4 |
2 | g.240878157G>A | CA2573135697 | AGXT | c.1071+7G>A (n.1071+7G>A) n.849+7G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240878158G>A | CA2209395 | AGXT | c.1071+8G>A (n.1071+8G>A) n.849+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878158G= | CA1339335820 | AGXT | c.1071+8G= (n.1071+8G=) n.849+8G= | |
2 | g.240878158G>T | CA2664012020 | AGXT | c.1071+8G>T (n.1071+8G>T) n.849+8G>T | gnomAD v4 |
2 | g.240878159G>A | CA2580068045 | AGXT | c.1071+9G>A (n.1071+9G>A) n.849+9G>A | ClinVar |
2 | g.240878161G>A | CA68180887 | AGXT | c.1071+11G>A (n.1071+11G>A) n.849+11G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878161G>C | CA2664012021 | AGXT | c.1071+11G>C (n.1071+11G>C) n.849+11G>C | gnomAD v4 |
2 | g.240878161G= | CA1339335821 | AGXT | c.1071+11G= (n.1071+11G=) n.849+11G= | |
2 | g.240878162C>A | CA540538585 | AGXT | c.1071+12C>A (n.1071+12C>A) n.849+12C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878162C= | CA1339335822 | AGXT | c.1071+12C= (n.1071+12C=) n.849+12C= | |
2 | g.240878162C>G | CA1339335823 | AGXT | c.1071+12C>G (n.1071+12C>G) n.849+12C>G | dbSNP |
2 | g.240878162C>T | CA2209396 | AGXT | c.1071+12C>T (n.1071+12C>T) n.849+12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878163G>A | CA2209397 | AGXT | c.1071+13G>A (n.1071+13G>A) n.849+13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878163G>C | CA540538587 | AGXT | c.1071+13G>C (n.1071+13G>C) n.849+13G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878163G= | CA1339335824 | AGXT | c.1071+13G= (n.1071+13G=) n.849+13G= | |
2 | g.240878163G>T | CA68180892 | AGXT | c.1071+13G>T (n.1071+13G>T) n.849+13G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878164C>A | CA2739279279 | AGXT | c.1071+14C>A (n.1071+14C>A) n.849+14C>A | ClinVar |
2 | g.240878164C>T | CA2843024977 | AGXT | c.1071+14C>T (n.1071+14C>T) n.849+14C>T | |
2 | g.240878165C>T | CA2664012022 | AGXT | c.1071+15C>T (n.1071+15C>T) n.849+15C>T | gnomAD v4 |