Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313815C>A | CA376434523 | MTPAP | c.1543G>T (p.Asp515Tyr) n.3298G>T | |
10 | g.30313815C>G | CA376434525 | MTPAP | c.1543G>C (p.Asp515His) n.3298G>C | |
10 | g.30313815C>T | CA376434522 | MTPAP | c.1543G>A (p.Asp515Asn) n.3298G>A | gnomAD v4 |
10 | g.30313816T>A | CA468798691 | MTPAP | c.1542A>T (p.Thr514=) n.3297A>T | |
10 | g.30313816T>C | CA5458928 | MTPAP | c.1542A>G (p.Thr514=) n.3297A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313816T>G | CA468798692 | MTPAP | c.1542A>C (p.Thr514=) n.3297A>C | |
10 | g.30313816T= | CA1899314004 | MTPAP | c.1542A= (p.Thr514=) n.3297A= | |
10 | g.30313817G>A | CA376434527 | MTPAP | c.1541C>T (p.Thr514Ile) n.3296C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313817G>C | CA376434528 | MTPAP | c.1541C>G (p.Thr514Arg) n.3296C>G | |
10 | g.30313817G= | CA1899314005 | MTPAP | c.1541C= (p.Thr514=) n.3296C= | |
10 | g.30313817G>T | CA376434530 | MTPAP | c.1541C>A (p.Thr514Lys) n.3296C>A | ClinVar |
10 | g.30313818T>A | CA376434531 | MTPAP | c.1540A>T (p.Thr514Ser) n.3295A>T | |
10 | g.30313818T>C | CA376434532 | MTPAP | c.1540A>G (p.Thr514Ala) n.3295A>G | dbSNP gnomAD v4 |
10 | g.30313818T>G | CA376434533 | MTPAP | c.1540A>C (p.Thr514Pro) n.3295A>C | |
10 | g.30313818T= | CA1899314006 | MTPAP | c.1540A= (p.Thr514=) n.3295A= | |
10 | g.30313819A= | CA1899314007 | MTPAP | c.1539T= (p.Asp513=) n.3294T= | |
10 | g.30313819A>C | CA376434536 | MTPAP | c.1539T>G (p.Asp513Glu) n.3294T>G | |
10 | g.30313819A>G | CA5458929 | MTPAP | c.1539T>C (p.Asp513=) n.3294T>C | dbSNP ExAC gnomAD v4 |
10 | g.30313819A>T | CA376434538 | MTPAP | c.1539T>A (p.Asp513Glu) n.3294T>A | |
10 | g.30313820T>A | CA5458930 | MTPAP | c.1538A>T (p.Asp513Val) n.3293A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313820T>C | CA376434540 | MTPAP | c.1538A>G (p.Asp513Gly) n.3293A>G | gnomAD v4 |
10 | g.30313820T>G | CA376434541 | MTPAP | c.1538A>C (p.Asp513Ala) n.3293A>C | |
10 | g.30313820T= | CA1899314008 | MTPAP | c.1538A= (p.Asp513=) n.3293A= | |
10 | g.30313821C>A | CA376434542 | MTPAP | c.1537G>T (p.Asp513Tyr) n.3292G>T | |
10 | g.30313821C= | CA1899314009 | MTPAP | c.1537G= (p.Asp513=) n.3292G= | |
10 | g.30313821C>G | CA376434545 | MTPAP | c.1537G>C (p.Asp513His) n.3292G>C | |
10 | g.30313821C>T | CA376434543 | MTPAP | c.1537G>A (p.Asp513Asn) n.3292G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313822T>A | CA376434547 | MTPAP | c.1536A>T (p.Glu512Asp) n.3291A>T | |
10 | g.30313822T>C | CA468798693 | MTPAP | c.1536A>G (p.Glu512=) n.3291A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313822T>G | CA376434549 | MTPAP | c.1536A>C (p.Glu512Asp) n.3291A>C | |
10 | g.30313822T= | CA1899314010 | MTPAP | c.1536A= (p.Glu512=) n.3291A= | |
10 | g.30313823T>A | CA376434550 | MTPAP | c.1535A>T (p.Glu512Val) n.3290A>T | |
10 | g.30313823T>C | CA376434552 | MTPAP | c.1535A>G (p.Glu512Gly) n.3290A>G | |
10 | g.30313823T>G | CA376434554 | MTPAP | c.1535A>C (p.Glu512Ala) n.3290A>C | |
10 | g.30313824C>A | CA376434556 | MTPAP | c.1534G>T (p.Glu512Ter) n.3289G>T | |
10 | g.30313824C>G | CA376434557 | MTPAP | c.1534G>C (p.Glu512Gln) n.3289G>C | |
10 | g.30313824C>T | CA376434558 | MTPAP | c.1534G>A (p.Glu512Lys) n.3289G>A | ClinVar |
10 | g.30313825C>A | CA376434559 | MTPAP | c.1533G>T (p.Gln511His) n.3288G>T | |
10 | g.30313825C= | CA1899314011 | MTPAP | c.1533G= (p.Gln511=) n.3288G= | |
10 | g.30313825C>G | CA5458931 | MTPAP | c.1533G>C (p.Gln511His) n.3288G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313825C>T | CA468798694 | MTPAP | c.1533G>A (p.Gln511=) n.3288G>A | |
10 | g.30313826T>A | CA376434562 | MTPAP | c.1532A>T (p.Gln511Leu) n.3287A>T | |
10 | g.30313826T>C | CA376434561 | MTPAP | c.1532A>G (p.Gln511Arg) n.3287A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313826T>G | CA376434560 | MTPAP | c.1532A>C (p.Gln511Pro) n.3287A>C | |
10 | g.30313826T= | CA1899314012 | MTPAP | c.1532A= (p.Gln511=) n.3287A= | |
10 | g.30313829_30313831del | CA2574454113 | MTPAP | c.1530_1532del (p.Gln511del) n.3285_3287del | |
10 | g.30313827G>A | CA376434564 | MTPAP | c.1531C>T (p.Gln511Ter) n.3286C>T | gnomAD v4 |
10 | g.30313827G>C | CA376434563 | MTPAP | c.1531C>G (p.Gln511Glu) n.3286C>G | |
10 | g.30313827G>T | CA376434566 | MTPAP | c.1531C>A (p.Gln511Lys) n.3286C>A | gnomAD v4 |
10 | g.30313828T>A | CA376434567 | MTPAP | c.1530A>T (p.Gln510His) n.3285A>T | |
10 | g.30313828T>C | CA468798695 | MTPAP | c.1530A>G (p.Gln510=) n.3285A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313828T>G | CA376434568 | MTPAP | c.1530A>C (p.Gln510His) n.3285A>C | |
10 | g.30313828T= | CA1899314013 | MTPAP | c.1530A= (p.Gln510=) n.3285A= | |
10 | g.30313829T>A | CA376434569 | MTPAP | c.1529A>T (p.Gln510Leu) n.3284A>T | |
10 | g.30313829T>C | CA376434570 | MTPAP | c.1529A>G (p.Gln510Arg) n.3284A>G | |
10 | g.30313829T>G | CA5458932 | MTPAP | c.1529A>C (p.Gln510Pro) n.3284A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313829T= | CA1899314014 | MTPAP | c.1529A= (p.Gln510=) n.3284A= | |
10 | g.30313830G>A | CA376434571 | MTPAP | c.1528C>T (p.Gln510Ter) n.3283C>T | |
10 | g.30313830G>C | CA376434572 | MTPAP | c.1528C>G (p.Gln510Glu) n.3283C>G | |
10 | g.30313830G= | CA1899314015 | MTPAP | c.1528C= (p.Gln510=) n.3283C= | |
10 | g.30313830G>T | CA376434573 | MTPAP | c.1528C>A (p.Gln510Lys) n.3283C>A | dbSNP |
10 | g.30313831T>A | CA376434574 | MTPAP | c.1527A>T (p.Leu509Phe) n.3282A>T | |
10 | g.30313831T>C | CA468798696 | MTPAP | c.1527A>G (p.Leu509=) n.3282A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313831T>G | CA376434575 | MTPAP | c.1527A>C (p.Leu509Phe) n.3282A>C | |
10 | g.30313831T= | CA1899314016 | MTPAP | c.1527A= (p.Leu509=) n.3282A= | |
10 | g.30313832A>C | CA376434576 | MTPAP | c.1526T>G (p.Leu509Ter) n.3281T>G | |
10 | g.30313832A>G | CA376434577 | MTPAP | c.1526T>C (p.Leu509Ser) n.3281T>C | |
10 | g.30313832A>T | CA376434578 | MTPAP | c.1526T>A (p.Leu509Ter) n.3281T>A | |
10 | g.30313833A>C | CA376434579 | MTPAP | c.1525T>G (p.Leu509Val) n.3280T>G | |
10 | g.30313833A>G | CA468798697 | MTPAP | c.1525T>C (p.Leu509=) n.3280T>C | |
10 | g.30313833A>T | CA376434580 | MTPAP | c.1525T>A (p.Leu509Ile) n.3280T>A | |
10 | g.30313834A>C | CA376434581 | MTPAP | c.1524T>G (p.Ile508Met) n.3279T>G | |
10 | g.30313834A>G | CA468798698 | MTPAP | c.1524T>C (p.Ile508=) n.3279T>C | |
10 | g.30313834A>T | CA468798699 | MTPAP | c.1524T>A (p.Ile508=) n.3279T>A | |
10 | g.30313835A>C | CA376434584 | MTPAP | c.1523T>G (p.Ile508Ser) n.3278T>G | |
10 | g.30313835A>G | CA376434583 | MTPAP | c.1523T>C (p.Ile508Thr) n.3278T>C | |
10 | g.30313835A>T | CA376434582 | MTPAP | c.1523T>A (p.Ile508Asn) n.3278T>A | |
10 | g.30313836T>A | CA376434585 | MTPAP | c.1522A>T (p.Ile508Phe) n.3277A>T | |
10 | g.30313836T>C | CA376434586 | MTPAP | c.1522A>G (p.Ile508Val) n.3277A>G | |
10 | g.30313836T>G | CA376434587 | MTPAP | c.1522A>C (p.Ile508Leu) n.3277A>C | |
10 | g.30313837C>A | CA376434588 | MTPAP | c.1521G>T (p.Trp507Cys) n.3276G>T | |
10 | g.30313837C>G | CA376434589 | MTPAP | c.1521G>C (p.Trp507Cys) n.3276G>C | |
10 | g.30313837C>T | CA376434590 | MTPAP | c.1521G>A (p.Trp507Ter) n.3276G>A | |
10 | g.30313838C>A | CA376434591 | MTPAP | c.1520G>T (p.Trp507Leu) n.3275G>T | |
10 | g.30313838C>G | CA376434592 | MTPAP | c.1520G>C (p.Trp507Ser) n.3275G>C | |
10 | g.30313838C>T | CA376434593 | MTPAP | c.1520G>A (p.Trp507Ter) n.3275G>A | |
10 | g.30313839A= | CA1899314017 | MTPAP | c.1519T= (p.Trp507=) n.3274T= | |
10 | g.30313839A>C | CA376434594 | MTPAP | c.1519T>G (p.Trp507Gly) n.3274T>G | |
10 | g.30313839A>G | CA376434595 | MTPAP | c.1519T>C (p.Trp507Arg) n.3274T>C | |
10 | g.30313839A>T | CA5458933 | MTPAP | c.1519T>A (p.Trp507Arg) n.3274T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313840G>A | CA468798700 | MTPAP | c.1518C>T (p.Ala506=) n.3273C>T | gnomAD v4 |
10 | g.30313840G>C | CA468798701 | MTPAP | c.1518C>G (p.Ala506=) n.3273C>G | |
10 | g.30313840G>T | CA468798702 | MTPAP | c.1518C>A (p.Ala506=) n.3273C>A | |
10 | g.30313841G>A | CA376434598 | MTPAP | c.1517C>T (p.Ala506Val) n.3272C>T | |
10 | g.30313841G>C | CA376434597 | MTPAP | c.1517C>G (p.Ala506Gly) n.3272C>G | |
10 | g.30313841G>T | CA376434596 | MTPAP | c.1517C>A (p.Ala506Asp) n.3272C>A | |
10 | g.30313842C>A | CA376434599 | MTPAP | c.1516G>T (p.Ala506Ser) n.3271G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313842C= | CA1899314018 | MTPAP | c.1516G= (p.Ala506=) n.3271G= | |
10 | g.30313842C>G | CA376434600 | MTPAP | c.1516G>C (p.Ala506Pro) n.3271G>C | |
10 | g.30313842C>T | CA376434601 | MTPAP | c.1516G>A (p.Ala506Thr) n.3271G>A | |
10 | g.30313843A>C | CA376434602 | MTPAP | c.1515T>G (p.Ser505Arg) n.3270T>G | |
10 | g.30313843A>G | CA468798703 | MTPAP | c.1515T>C (p.Ser505=) n.3270T>C | |
10 | g.30313843A>T | CA376434603 | MTPAP | c.1515T>A (p.Ser505Arg) n.3270T>A | |
10 | g.30313844C>A | CA376434604 | MTPAP | c.1514G>T (p.Ser505Ile) n.3269G>T | |
10 | g.30313844C>G | CA376434605 | MTPAP | c.1514G>C (p.Ser505Thr) n.3269G>C | |
10 | g.30313844C>T | CA376434606 | MTPAP | c.1514G>A (p.Ser505Asn) n.3269G>A | gnomAD v4 |
10 | g.30313845T>A | CA376434607 | MTPAP | c.1513A>T (p.Ser505Cys) n.3268A>T | |
10 | g.30313845T>C | CA376434608 | MTPAP | c.1513A>G (p.Ser505Gly) n.3268A>G | |
10 | g.30313845T>G | CA376434609 | MTPAP | c.1513A>C (p.Ser505Arg) n.3268A>C | |
10 | g.30313846T>A | CA376434610 | MTPAP | c.1512A>T (p.Glu504Asp) n.3267A>T | |
10 | g.30313846T>C | CA468798704 | MTPAP | c.1512A>G (p.Glu504=) n.3267A>G | |
10 | g.30313846T>G | CA376434611 | MTPAP | c.1512A>C (p.Glu504Asp) n.3267A>C | |
10 | g.30313847T>A | CA376434613 | MTPAP | c.1511A>T (p.Glu504Val) n.3266A>T | |
10 | g.30313847T>C | CA5458934 | MTPAP | c.1511A>G (p.Glu504Gly) n.3266A>G | dbSNP ExAC gnomAD v2 |
10 | g.30313847T>G | CA376434612 | MTPAP | c.1511A>C (p.Glu504Ala) n.3266A>C | gnomAD v4 |
10 | g.30313847T= | CA1899314019 | MTPAP | c.1511A= (p.Glu504=) n.3266A= | |
10 | g.30313848C>A | CA376434614 | MTPAP | c.1510G>T (p.Glu504Ter) n.3265G>T | |
10 | g.30313848C>G | CA376434615 | MTPAP | c.1510G>C (p.Glu504Gln) n.3265G>C | |
10 | g.30313848C>T | CA376434616 | MTPAP | c.1510G>A (p.Glu504Lys) n.3265G>A | |
10 | g.30313849T>A | CA468798705 | MTPAP | c.1509A>T (p.Arg503=) n.3264A>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313849T>C | CA468798706 | MTPAP | c.1509A>G (p.Arg503=) n.3264A>G | |
10 | g.30313849T>G | CA468798707 | MTPAP | c.1509A>C (p.Arg503=) n.3264A>C | |
10 | g.30313849T= | CA1899314020 | MTPAP | c.1509A= (p.Arg503=) n.3264A= | |
10 | g.30313850C>A | CA205300991 | MTPAP | c.1508G>T (p.Arg503Leu) n.3263G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313850C= | CA1899314021 | MTPAP | c.1508G= (p.Arg503=) n.3263G= | |
10 | g.30313850C>G | CA376434617 | MTPAP | c.1508G>C (p.Arg503Pro) n.3263G>C | |
10 | g.30313850C>T | CA5458935 | MTPAP | c.1508G>A (p.Arg503Gln) n.3263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.30313851G>A | CA5458936 | MTPAP | c.1507C>T (p.Arg503Ter) n.3262C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.30313851G>C | CA376434618 | MTPAP | c.1507C>G (p.Arg503Gly) n.3262C>G | |
10 | g.30313851G= | CA1899314022 | MTPAP | c.1507C= (p.Arg503=) n.3262C= | |
10 | g.30313851G>T | CA468798708 | MTPAP | c.1507C>A (p.Arg503=) n.3262C>A | |
10 | g.30313852G>A | CA468798711 | MTPAP | c.1506C>T (p.Ala502=) n.3261C>T | dbSNP |
10 | g.30313852G>C | CA468798710 | MTPAP | c.1506C>G (p.Ala502=) n.3261C>G | |
10 | g.30313852G= | CA1899314023 | MTPAP | c.1506C= (p.Ala502=) n.3261C= | |
10 | g.30313852G>T | CA468798709 | MTPAP | c.1506C>A (p.Ala502=) n.3261C>A | |
10 | g.30313853G>A | CA205301019 | MTPAP | c.1505C>T (p.Ala502Val) n.3260C>T | dbSNP gnomAD v4 COSMIC COSMIC |
10 | g.30313853G>C | CA376434619 | MTPAP | c.1505C>G (p.Ala502Gly) n.3260C>G | |
10 | g.30313853G= | CA1899314024 | MTPAP | c.1505C= (p.Ala502=) n.3260C= | |
10 | g.30313853G>T | CA376434620 | MTPAP | c.1505C>A (p.Ala502Asp) n.3260C>A | |
10 | g.30313854C>A | CA5458937 | MTPAP | c.1504G>T (p.Ala502Ser) n.3259G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313854C= | CA1899314025 | MTPAP | c.1504G= (p.Ala502=) n.3259G= | |
10 | g.30313854C>G | CA376434622 | MTPAP | c.1504G>C (p.Ala502Pro) n.3259G>C | gnomAD v4 |
10 | g.30313854C>T | CA376434621 | MTPAP | c.1504G>A (p.Ala502Thr) n.3259G>A | |
10 | g.30313855C>A | CA376434623 | MTPAP | c.1503G>T (p.Leu501Phe) n.3258G>T | |
10 | g.30313855C>G | CA376434624 | MTPAP | c.1503G>C (p.Leu501Phe) n.3258G>C | |
10 | g.30313855C>T | CA468798712 | MTPAP | c.1503G>A (p.Leu501=) n.3258G>A | |
10 | g.30313856A= | CA1899314026 | MTPAP | c.1502T= (p.Leu501=) n.3257T= | |
10 | g.30313856A>C | CA376434625 | MTPAP | c.1502T>G (p.Leu501Trp) n.3257T>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313856A>G | CA376434626 | MTPAP | c.1502T>C (p.Leu501Ser) n.3257T>C | |
10 | g.30313856A>T | CA376434627 | MTPAP | c.1502T>A (p.Leu501Ter) n.3257T>A | |
10 | g.30313857A>C | CA376434628 | MTPAP | c.1501T>G (p.Leu501Val) n.3256T>G | |
10 | g.30313857A>G | CA468798713 | MTPAP | c.1501T>C (p.Leu501=) n.3256T>C | |
10 | g.30313857A>T | CA376434629 | MTPAP | c.1501T>A (p.Leu501Met) n.3256T>A | |
10 | g.30313858A>C | CA376434630 | MTPAP | c.1500T>G (p.Asp500Glu) n.3255T>G | |
10 | g.30313858A>G | CA468798714 | MTPAP | c.1500T>C (p.Asp500=) n.3255T>C | |
10 | g.30313858A>T | CA376434631 | MTPAP | c.1500T>A (p.Asp500Glu) n.3255T>A | |
10 | g.30313859T>A | CA376434632 | MTPAP | c.1499A>T (p.Asp500Val) n.3254A>T | |
10 | g.30313859T>C | CA376434633 | MTPAP | c.1499A>G (p.Asp500Gly) n.3254A>G | |
10 | g.30313859T>G | CA376434634 | MTPAP | c.1499A>C (p.Asp500Ala) n.3254A>C | |
10 | g.30313860C>A | CA376434635 | MTPAP | c.1498G>T (p.Asp500Tyr) n.3253G>T | dbSNP |
10 | g.30313860C= | CA1899314027 | MTPAP | c.1498G= (p.Asp500=) n.3253G= | |
10 | g.30313860C>G | CA376434636 | MTPAP | c.1498G>C (p.Asp500His) n.3253G>C | |
10 | g.30313860C>T | CA5458938 | MTPAP | c.1498G>A (p.Asp500Asn) n.3253G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313861T>A | CA468798715 | MTPAP | c.1497A>T (p.Val499=) n.3252A>T | |
10 | g.30313861T>C | CA468798716 | MTPAP | c.1497A>G (p.Val499=) n.3252A>G | |
10 | g.30313861T>G | CA468798717 | MTPAP | c.1497A>C (p.Val499=) n.3252A>C | |
10 | g.30313862A>C | CA376434637 | MTPAP | c.1496T>G (p.Val499Gly) n.3251T>G | |
10 | g.30313862A>G | CA376434639 | MTPAP | c.1496T>C (p.Val499Ala) n.3251T>C | |
10 | g.30313862A>T | CA376434638 | MTPAP | c.1496T>A (p.Val499Glu) n.3251T>A | |
10 | g.30313863C>A | CA376434640 | MTPAP | c.1495G>T (p.Val499Leu) n.3250G>T | |
10 | g.30313863C>G | CA376434641 | MTPAP | c.1495G>C (p.Val499Leu) n.3250G>C | gnomAD v4 |
10 | g.30313863C>T | CA376434642 | MTPAP | c.1495G>A (p.Val499Ile) n.3250G>A | |
10 | g.30313864A>C | CA376434643 | MTPAP | c.1494T>G (p.Phe498Leu) n.3249T>G | |
10 | g.30313864A>G | CA468798718 | MTPAP | c.1494T>C (p.Phe498=) n.3249T>C | |
10 | g.30313864A>T | CA376434644 | MTPAP | c.1494T>A (p.Phe498Leu) n.3249T>A | |
10 | g.30313865A>C | CA376434645 | MTPAP | c.1493T>G (p.Phe498Cys) n.3248T>G | ClinVar gnomAD v4 COSMIC COSMIC |
10 | g.30313865A>G | CA376434646 | MTPAP | c.1493T>C (p.Phe498Ser) n.3248T>C | gnomAD v4 |
10 | g.30313865A>T | CA376434647 | MTPAP | c.1493T>A (p.Phe498Tyr) n.3248T>A | |
10 | g.30313866A>C | CA376434648 | MTPAP | c.1492T>G (p.Phe498Val) n.3247T>G | |
10 | g.30313866A>G | CA376434649 | MTPAP | c.1492T>C (p.Phe498Leu) n.3247T>C | |
10 | g.30313866A>T | CA376434650 | MTPAP | c.1492T>A (p.Phe498Ile) n.3247T>A | |
10 | g.30313867T>A | CA376434651 | MTPAP | c.1491A>T (p.Lys497Asn) n.3246A>T | |
10 | g.30313867T>C | CA468798719 | MTPAP | c.1491A>G (p.Lys497=) n.3246A>G | |
10 | g.30313867T>G | CA205301029 | MTPAP | c.1491A>C (p.Lys497Asn) n.3246A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313867T= | CA1899314028 | MTPAP | c.1491A= (p.Lys497=) n.3246A= | |
10 | g.30313871del | CA645544917 | MTPAP | c.1491del (p.Lys497AsnfsTer3) n.3246del | COSMIC COSMIC |
10 | g.30313868T>A | CA376434652 | MTPAP | c.1490A>T (p.Lys497Ile) n.3245A>T | |
10 | g.30313868T>C | CA376434653 | MTPAP | c.1490A>G (p.Lys497Arg) n.3245A>G | |
10 | g.30313868T>G | CA376434654 | MTPAP | c.1490A>C (p.Lys497Thr) n.3245A>C | |
10 | g.30313869T>A | CA376434655 | MTPAP | c.1489A>T (p.Lys497Ter) n.3244A>T | |
10 | g.30313869T>C | CA376434656 | MTPAP | c.1489A>G (p.Lys497Glu) n.3244A>G | |
10 | g.30313869T>G | CA376434657 | MTPAP | c.1489A>C (p.Lys497Gln) n.3244A>C | |
10 | g.30313870T>A | CA376434658 | MTPAP | c.1488A>T (p.Gln496His) n.3243A>T | |
10 | g.30313870T>C | CA468798720 | MTPAP | c.1488A>G (p.Gln496=) n.3243A>G | |
10 | g.30313870T>G | CA376434659 | MTPAP | c.1488A>C (p.Gln496His) n.3243A>C | |
10 | g.30313871T>A | CA376434660 | MTPAP | c.1487A>T (p.Gln496Leu) n.3242A>T | |
10 | g.30313871T>C | CA376434661 | MTPAP | c.1487A>G (p.Gln496Arg) n.3242A>G | |
10 | g.30313871T>G | CA376434662 | MTPAP | c.1487A>C (p.Gln496Pro) n.3242A>C | |
10 | g.30313872G>A | CA205301030 | MTPAP | c.1486C>T (p.Gln496Ter) n.3241C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313872G>C | CA376434663 | MTPAP | c.1486C>G (p.Gln496Glu) n.3241C>G | gnomAD v4 |
10 | g.30313872G= | CA1899314029 | MTPAP | c.1486C= (p.Gln496=) n.3241C= | |
10 | g.30313872G>T | CA376434664 | MTPAP | c.1486C>A (p.Gln496Lys) n.3241C>A | |
10 | g.30313873C>A | CA468798721 | MTPAP | c.1485G>T (p.Leu495=) n.3240G>T | |
10 | g.30313873C= | CA1899314030 | MTPAP | c.1485G= (p.Leu495=) n.3240G= | |
10 | g.30313873C>G | CA468798722 | MTPAP | c.1485G>C (p.Leu495=) n.3240G>C | |
10 | g.30313873C>T | CA5458939 | MTPAP | c.1485G>A (p.Leu495=) n.3240G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313874A= | CA1899314031 | MTPAP | c.1484T= (p.Leu495=) n.3239T= | |
10 | g.30313874A>C | CA376434665 | MTPAP | c.1484T>G (p.Leu495Arg) n.3239T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313874A>G | CA376434666 | MTPAP | c.1484T>C (p.Leu495Pro) n.3239T>C | |
10 | g.30313874A>T | CA376434667 | MTPAP | c.1484T>A (p.Leu495Gln) n.3239T>A | |
10 | g.30313875G>A | CA468798723 | MTPAP | c.1483C>T (p.Leu495=) n.3238C>T | |
10 | g.30313875G>C | CA376434668 | MTPAP | c.1483C>G (p.Leu495Val) n.3238C>G | |
10 | g.30313875G>T | CA376434669 | MTPAP | c.1483C>A (p.Leu495Met) n.3238C>A | |
10 | g.30313876C>A | CA376434670 | MTPAP | c.1482G>T (p.Gln494His) n.3237G>T | |
10 | g.30313876C>G | CA376434671 | MTPAP | c.1482G>C (p.Gln494His) n.3237G>C | gnomAD v4 |
10 | g.30313876C>T | CA468798724 | MTPAP | c.1482G>A (p.Gln494=) n.3237G>A | |
10 | g.30313877T>A | CA376434672 | MTPAP | c.1481A>T (p.Gln494Leu) n.3236A>T | |
10 | g.30313877T>C | CA376434673 | MTPAP | c.1481A>G (p.Gln494Arg) n.3236A>G | |
10 | g.30313877T>G | CA376434674 | MTPAP | c.1481A>C (p.Gln494Pro) n.3236A>C | |
10 | g.30313878G>A | CA376434675 | MTPAP | c.1480C>T (p.Gln494Ter) n.3235C>T | |
10 | g.30313878G>C | CA376434676 | MTPAP | c.1480C>G (p.Gln494Glu) n.3235C>G | |
10 | g.30313878G>T | CA376434677 | MTPAP | c.1480C>A (p.Gln494Lys) n.3235C>A | |
10 | g.30313879G>A | CA5458940 | MTPAP | c.1479C>T (p.Ser493=) n.3234C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313879G>C | CA376434679 | MTPAP | c.1479C>G (p.Ser493Arg) n.3234C>G | |
10 | g.30313879G= | CA1899314032 | MTPAP | c.1479C= (p.Ser493=) n.3234C= | |
10 | g.30313879G>T | CA376434678 | MTPAP | c.1479C>A (p.Ser493Arg) n.3234C>A | gnomAD v4 |
10 | g.30313880C>A | CA376434680 | MTPAP | c.1478G>T (p.Ser493Ile) n.3233G>T | ClinVar |
10 | g.30313880C= | CA1899314033 | MTPAP | c.1478G= (p.Ser493=) n.3233G= | |
10 | g.30313880C>G | CA376434681 | MTPAP | c.1478G>C (p.Ser493Thr) n.3233G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313880C>T | CA376434682 | MTPAP | c.1478G>A (p.Ser493Asn) n.3233G>A | dbSNP gnomAD v4 |
10 | g.30313881T>A | CA376434683 | MTPAP | c.1477A>T (p.Ser493Cys) n.3232A>T | |
10 | g.30313881T>C | CA376434684 | MTPAP | c.1477A>G (p.Ser493Gly) n.3232A>G | |
10 | g.30313881T>G | CA376434685 | MTPAP | c.1477A>C (p.Ser493Arg) n.3232A>C | |
10 | g.30313882T>A | CA376434686 | MTPAP | c.1476A>T (p.Gln492His) n.3231A>T | dbSNP |
10 | g.30313882T>C | CA468798729 | MTPAP | c.1476A>G (p.Gln492=) n.3231A>G | |
10 | g.30313882T>G | CA376434687 | MTPAP | c.1476A>C (p.Gln492His) n.3231A>C | |
10 | g.30313882T= | CA1899314034 | MTPAP | c.1476A= (p.Gln492=) n.3231A= | |
10 | g.30313883T>A | CA376434688 | MTPAP | c.1475A>T (p.Gln492Leu) n.3230A>T | |
10 | g.30313883T>C | CA376434689 | MTPAP | c.1475A>G (p.Gln492Arg) n.3230A>G | |
10 | g.30313883T>G | CA376434690 | MTPAP | c.1475A>C (p.Gln492Pro) n.3230A>C | |
10 | g.30313884G>A | CA376434691 | MTPAP | c.1474C>T (p.Gln492Ter) n.3229C>T | |
10 | g.30313884G>C | CA376434692 | MTPAP | c.1474C>G (p.Gln492Glu) n.3229C>G | |
10 | g.30313884G>T | CA376434693 | MTPAP | c.1474C>A (p.Gln492Lys) n.3229C>A | gnomAD v4 |
10 | g.30313885A= | CA1899314035 | MTPAP | c.1473T= (p.Ser491=) n.3228T= | |
10 | g.30313885A>C | CA376434695 | MTPAP | c.1473T>G (p.Ser491Arg) n.3228T>G | |
10 | g.30313885A>G | CA5458941 | MTPAP | c.1473T>C (p.Ser491=) n.3228T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313885A>T | CA376434694 | MTPAP | c.1473T>A (p.Ser491Arg) n.3228T>A | |
10 | g.30313886C>A | CA376434696 | MTPAP | c.1472G>T (p.Ser491Ile) n.3227G>T | |
10 | g.30313886C>G | CA376434697 | MTPAP | c.1472G>C (p.Ser491Thr) n.3227G>C | |
10 | g.30313886C>T | CA376434698 | MTPAP | c.1472G>A (p.Ser491Asn) n.3227G>A | COSMIC COSMIC |
10 | g.30313887T>A | CA376434699 | MTPAP | c.1471A>T (p.Ser491Cys) n.3226A>T | |
10 | g.30313887T>C | CA376434700 | MTPAP | c.1471A>G (p.Ser491Gly) n.3226A>G | |
10 | g.30313887T>G | CA376434701 | MTPAP | c.1471A>C (p.Ser491Arg) n.3226A>C | |
10 | g.30313888T>A | CA468798750 | MTPAP | c.1470A>T (p.Val490=) n.3225A>T | |
10 | g.30313888T>C | CA468798752 | MTPAP | c.1470A>G (p.Val490=) n.3225A>G | gnomAD v4 |
10 | g.30313888T>G | CA468798754 | MTPAP | c.1470A>C (p.Val490=) n.3225A>C | |
10 | g.30313889A>C | CA376434702 | MTPAP | c.1469T>G (p.Val490Gly) n.3224T>G | |
10 | g.30313889A>G | CA376434703 | MTPAP | c.1469T>C (p.Val490Ala) n.3224T>C | |
10 | g.30313889A>T | CA376434704 | MTPAP | c.1469T>A (p.Val490Glu) n.3224T>A | |
10 | g.30313890C>A | CA16043676 | MTPAP | c.1468G>T (p.Val490Leu) n.3223G>T | ClinVar dbSNP |
10 | g.30313890C= | CA1899314036 | MTPAP | c.1468G= (p.Val490=) n.3223G= | |
10 | g.30313890C>G | CA376434705 | MTPAP | c.1468G>C (p.Val490Leu) n.3223G>C | |
10 | g.30313890C>T | CA376434706 | MTPAP | c.1468G>A (p.Val490Ile) n.3223G>A | ClinVar dbSNP gnomAD v4 |
10 | g.30313891A>C | CA376434707 | MTPAP | c.1467T>G (p.Asn489Lys) n.3222T>G | |
10 | g.30313891A>G | CA468798765 | MTPAP | c.1467T>C (p.Asn489=) n.3222T>C | |
10 | g.30313891A>T | CA376434708 | MTPAP | c.1467T>A (p.Asn489Lys) n.3222T>A | |
10 | g.30313892T>A | CA376434710 | MTPAP | c.1466A>T (p.Asn489Ile) n.3221A>T | |
10 | g.30313892T>C | CA376434711 | MTPAP | c.1466A>G (p.Asn489Ser) n.3221A>G | |
10 | g.30313892T>G | CA376434709 | MTPAP | c.1466A>C (p.Asn489Thr) n.3221A>C | |
10 | g.30313893T>A | CA376434712 | MTPAP | c.1465A>T (p.Asn489Tyr) n.3220A>T | |
10 | g.30313893T>C | CA376434713 | MTPAP | c.1465A>G (p.Asn489Asp) n.3220A>G | |
10 | g.30313893T>G | CA376434714 | MTPAP | c.1465A>C (p.Asn489His) n.3220A>C | |
10 | g.30313894T>A | CA376434715 | MTPAP | c.1464A>T (p.Lys488Asn) n.3219A>T | |
10 | g.30313894T>C | CA468798779 | MTPAP | c.1464A>G (p.Lys488=) n.3219A>G | |
10 | g.30313894T>G | CA376434716 | MTPAP | c.1464A>C (p.Lys488Asn) n.3219A>C | ClinVar dbSNP gnomAD v2 |
10 | g.30313894T= | CA1899314037 | MTPAP | c.1464A= (p.Lys488=) n.3219A= | |
10 | g.30313895T>A | CA376434717 | MTPAP | c.1463A>T (p.Lys488Ile) n.3218A>T | |
10 | g.30313895T>C | CA376434718 | MTPAP | c.1463A>G (p.Lys488Arg) n.3218A>G | |
10 | g.30313895T>G | CA376434719 | MTPAP | c.1463A>C (p.Lys488Thr) n.3218A>C | |
10 | g.30313896T>A | CA376434720 | MTPAP | c.1462A>T (p.Lys488Ter) n.3217A>T | |
10 | g.30313896T>C | CA376434721 | MTPAP | c.1462A>G (p.Lys488Glu) n.3217A>G | |
10 | g.30313896T>G | CA376434722 | MTPAP | c.1462A>C (p.Lys488Gln) n.3217A>C | |
10 | g.30313897G>A | CA468798791 | MTPAP | c.1461C>T (p.Ser487=) n.3216C>T | |
10 | g.30313897G>C | CA376434723 | MTPAP | c.1461C>G (p.Ser487Arg) n.3216C>G | |
10 | g.30313897G>T | CA376434724 | MTPAP | c.1461C>A (p.Ser487Arg) n.3216C>A | |
10 | g.30313898C>A | CA376434727 | MTPAP | c.1460G>T (p.Ser487Ile) n.3215G>T | |
10 | g.30313898C>G | CA376434725 | MTPAP | c.1460G>C (p.Ser487Thr) n.3215G>C | |
10 | g.30313898C>T | CA376434726 | MTPAP | c.1460G>A (p.Ser487Asn) n.3215G>A | gnomAD v4 |
10 | g.30313899T>A | CA376434728 | MTPAP | c.1459A>T (p.Ser487Cys) n.3214A>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313899T>C | CA376434729 | MTPAP | c.1459A>G (p.Ser487Gly) n.3214A>G | |
10 | g.30313899T>G | CA376434730 | MTPAP | c.1459A>C (p.Ser487Arg) n.3214A>C | |
10 | g.30313899T= | CA1899314038 | MTPAP | c.1459A= (p.Ser487=) n.3214A= | |
10 | g.30313900T>A | CA468798806 | MTPAP | c.1458A>T (p.Ile486=) n.3213A>T | |
10 | g.30313900T>C | CA376434731 | MTPAP | c.1458A>G (p.Ile486Met) n.3213A>G | |
10 | g.30313900T>G | CA468798804 | MTPAP | c.1458A>C (p.Ile486=) n.3213A>C | |
10 | g.30313901A>C | CA376434732 | MTPAP | c.1457T>G (p.Ile486Arg) n.3212T>G | |
10 | g.30313901A>G | CA376434733 | MTPAP | c.1457T>C (p.Ile486Thr) n.3212T>C | |
10 | g.30313901A>T | CA376434734 | MTPAP | c.1457T>A (p.Ile486Lys) n.3212T>A | |
10 | g.30313902T>A | CA376434735 | MTPAP | c.1456A>T (p.Ile486Leu) n.3211A>T | |
10 | g.30313902T>C | CA376434736 | MTPAP | c.1456A>G (p.Ile486Val) n.3211A>G | |
10 | g.30313902T>G | CA376434737 | MTPAP | c.1456A>C (p.Ile486Leu) n.3211A>C | |
10 | g.30313903del | CA2787135262 | MTPAP | c.1455del (p.Asn485LysfsTer2) n.3210del | |
10 | g.30313903G>A | CA468798816 | MTPAP | c.1455C>T (p.Asn485=) n.3210C>T | |
10 | g.30313903G>C | CA376434738 | MTPAP | c.1455C>G (p.Asn485Lys) n.3210C>G | |
10 | g.30313903G>T | CA376434739 | MTPAP | c.1455C>A (p.Asn485Lys) n.3210C>A | |
10 | g.30313904T>A | CA376434740 | MTPAP | c.1454A>T (p.Asn485Ile) n.3209A>T | |
10 | g.30313904T>C | CA376434742 | MTPAP | c.1454A>G (p.Asn485Ser) n.3209A>G | |
10 | g.30313904T>G | CA376434741 | MTPAP | c.1454A>C (p.Asn485Thr) n.3209A>C | |
10 | g.30313905T>A | CA376434743 | MTPAP | c.1453A>T (p.Asn485Tyr) n.3208A>T | |
10 | g.30313905T>C | CA376434745 | MTPAP | c.1453A>G (p.Asn485Asp) n.3208A>G | |
10 | g.30313905T>G | CA376434744 | MTPAP | c.1453A>C (p.Asn485His) n.3208A>C | |
10 | g.30313906G>A | CA468798833 | MTPAP | c.1452C>T (p.Leu484=) n.3207C>T | gnomAD v4 |
10 | g.30313906G>C | CA468798831 | MTPAP | c.1452C>G (p.Leu484=) n.3207C>G | |
10 | g.30313906G>T | CA468798829 | MTPAP | c.1452C>A (p.Leu484=) n.3207C>A | |
10 | g.30313910_30313911del | CA2608695884 | MTPAP | c.1451_1452del (p.Leu484GlnfsTer?) n.3206_3207del | gnomAD v4 |
10 | g.30313907A>C | CA376434746 | MTPAP | c.1451T>G (p.Leu484Arg) n.3206T>G | |
10 | g.30313907A>G | CA376434747 | MTPAP | c.1451T>C (p.Leu484Pro) n.3206T>C | |
10 | g.30313907A>T | CA376434748 | MTPAP | c.1451T>A (p.Leu484His) n.3206T>A | |
10 | g.30313908G>A | CA376434749 | MTPAP | c.1450C>T (p.Leu484Phe) n.3205C>T | gnomAD v4 |
10 | g.30313908G>C | CA205301032 | MTPAP | c.1450C>G (p.Leu484Val) n.3205C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313908G= | CA1899314039 | MTPAP | c.1450C= (p.Leu484=) n.3205C= | |
10 | g.30313908G>T | CA376434750 | MTPAP | c.1450C>A (p.Leu484Ile) n.3205C>A | |
10 | g.30313909A>C | CA468798844 | MTPAP | c.1449T>G (p.Ser483=) n.3204T>G | |
10 | g.30313909A>G | CA468798845 | MTPAP | c.1449T>C (p.Ser483=) n.3204T>C | |
10 | g.30313909A>T | CA468798847 | MTPAP | c.1449T>A (p.Ser483=) n.3204T>A | |
10 | g.30313910G>A | CA376434751 | MTPAP | c.1448C>T (p.Ser483Phe) n.3203C>T | COSMIC COSMIC |
10 | g.30313910G>C | CA376434752 | MTPAP | c.1448C>G (p.Ser483Cys) n.3203C>G | |
10 | g.30313910G>T | CA376434753 | MTPAP | c.1448C>A (p.Ser483Tyr) n.3203C>A | |
10 | g.30313911A>C | CA376434754 | MTPAP | c.1447T>G (p.Ser483Ala) n.3202T>G | |
10 | g.30313911A>G | CA376434755 | MTPAP | c.1447T>C (p.Ser483Pro) n.3202T>C | |
10 | g.30313911A>T | CA376434756 | MTPAP | c.1447T>A (p.Ser483Thr) n.3202T>A | |
10 | g.30313912A= | CA1899314040 | MTPAP | c.1446T= (p.Thr482=) n.3201T= | |
10 | g.30313912A>C | CA468798858 | MTPAP | c.1446T>G (p.Thr482=) n.3201T>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313912A>G | CA468798860 | MTPAP | c.1446T>C (p.Thr482=) n.3201T>C | |
10 | g.30313912A>T | CA468798862 | MTPAP | c.1446T>A (p.Thr482=) n.3201T>A | ClinVar dbSNP gnomAD v4 |
10 | g.30313913G>A | CA5458942 | MTPAP | c.1445C>T (p.Thr482Ile) n.3200C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313913G>C | CA376434757 | MTPAP | c.1445C>G (p.Thr482Ser) n.3200C>G | |
10 | g.30313913G= | CA1899314041 | MTPAP | c.1445C= (p.Thr482=) n.3200C= | |
10 | g.30313913G>T | CA376434758 | MTPAP | c.1445C>A (p.Thr482Asn) n.3200C>A | |
10 | g.30313914T>A | CA376434759 | MTPAP | c.1444A>T (p.Thr482Ser) n.3199A>T | |
10 | g.30313914T>C | CA376434760 | MTPAP | c.1444A>G (p.Thr482Ala) n.3199A>G | |
10 | g.30313914T>G | CA376434761 | MTPAP | c.1444A>C (p.Thr482Pro) n.3199A>C | |
10 | g.30313915T>A | CA376434762 | MTPAP | c.1443A>T (p.Glu481Asp) n.3198A>T | |
10 | g.30313915T>C | CA468798872 | MTPAP | c.1443A>G (p.Glu481=) n.3198A>G | |
10 | g.30313915T>G | CA376434763 | MTPAP | c.1443A>C (p.Glu481Asp) n.3198A>C |