Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
10 | g.30313916T>A | CA376434764 | MTPAP | c.1442A>T (p.Glu481Val) n.3197A>T | |
10 | g.30313916T>C | CA376434765 | MTPAP | c.1442A>G (p.Glu481Gly) n.3197A>G | |
10 | g.30313916T>G | CA376434766 | MTPAP | c.1442A>C (p.Glu481Ala) n.3197A>C | |
10 | g.30313917C>A | CA376434767 | MTPAP | c.1441G>T (p.Glu481Ter) n.3196G>T | |
10 | g.30313917C>G | CA376434768 | MTPAP | c.1441G>C (p.Glu481Gln) n.3196G>C | |
10 | g.30313917C>T | CA376434769 | MTPAP | c.1441G>A (p.Glu481Lys) n.3196G>A | |
10 | g.30313918A>C | CA376434771 | MTPAP | c.1440T>G (p.Phe480Leu) n.3195T>G | |
10 | g.30313918A>G | CA468798885 | MTPAP | c.1440T>C (p.Phe480=) n.3195T>C | |
10 | g.30313918A>T | CA376434770 | MTPAP | c.1440T>A (p.Phe480Leu) n.3195T>A | |
10 | g.30313919A>C | CA376434772 | MTPAP | c.1439T>G (p.Phe480Cys) n.3194T>G | |
10 | g.30313919A>G | CA376434773 | MTPAP | c.1439T>C (p.Phe480Ser) n.3194T>C | |
10 | g.30313919A>T | CA376434774 | MTPAP | c.1439T>A (p.Phe480Tyr) n.3194T>A | |
10 | g.30313920A>C | CA376434775 | MTPAP | c.1438T>G (p.Phe480Val) n.3193T>G | |
10 | g.30313920A>G | CA376434776 | MTPAP | c.1438T>C (p.Phe480Leu) n.3193T>C | |
10 | g.30313920A>T | CA376434777 | MTPAP | c.1438T>A (p.Phe480Ile) n.3193T>A | |
10 | g.30313921T>A | CA468798897 | MTPAP | c.1437A>T (p.Pro479=) n.3192A>T | |
10 | g.30313921T>C | CA468798895 | MTPAP | c.1437A>G (p.Pro479=) n.3192A>G | |
10 | g.30313921T>G | CA468798893 | MTPAP | c.1437A>C (p.Pro479=) n.3192A>C | |
10 | g.30313922G>A | CA376434780 | MTPAP | c.1436C>T (p.Pro479Leu) n.3191C>T | |
10 | g.30313922G>C | CA376434778 | MTPAP | c.1436C>G (p.Pro479Arg) n.3191C>G | |
10 | g.30313922G>T | CA376434779 | MTPAP | c.1436C>A (p.Pro479Gln) n.3191C>A | |
10 | g.30313923G>A | CA376434781 | MTPAP | c.1435C>T (p.Pro479Ser) n.3190C>T | COSMIC COSMIC |
10 | g.30313923G>C | CA376434782 | MTPAP | c.1435C>G (p.Pro479Ala) n.3190C>G | |
10 | g.30313923G>T | CA376434783 | MTPAP | c.1435C>A (p.Pro479Thr) n.3190C>A | |
10 | g.30313924A>C | CA376434784 | MTPAP | c.1434T>G (p.Asn478Lys) n.3189T>G | |
10 | g.30313924A>G | CA468798908 | MTPAP | c.1434T>C (p.Asn478=) n.3189T>C | |
10 | g.30313924A>T | CA376434785 | MTPAP | c.1434T>A (p.Asn478Lys) n.3189T>A | |
10 | g.30313925T>A | CA376434786 | MTPAP | c.1433A>T (p.Asn478Ile) n.3188A>T | |
10 | g.30313925T>C | CA376434788 | MTPAP | c.1433A>G (p.Asn478Ser) n.3188A>G | |
10 | g.30313925T>G | CA376434787 | MTPAP | c.1433A>C (p.Asn478Thr) n.3188A>C | |
10 | g.30313926T>A | CA376434789 | MTPAP | c.1432A>T (p.Asn478Tyr) n.3187A>T | dbSNP gnomAD v4 |
10 | g.30313926T>C | CA113782 | MTPAP | c.1432A>G (p.Asn478Asp) n.3187A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313926T>G | CA376434790 | MTPAP | c.1432A>C (p.Asn478His) n.3187A>C | |
10 | g.30313926T= | CA1899314042 | MTPAP | c.1432A= (p.Asn478=) n.3187A= | |
10 | g.30313927C>A | CA376434791 | MTPAP | c.1431G>T (p.Gln477His) n.3186G>T | |
10 | g.30313927C>G | CA376434792 | MTPAP | c.1431G>C (p.Gln477His) n.3186G>C | |
10 | g.30313927C>T | CA468798922 | MTPAP | c.1431G>A (p.Gln477=) n.3186G>A | |
10 | g.30313928T>A | CA376434793 | MTPAP | c.1430A>T (p.Gln477Leu) n.3185A>T | |
10 | g.30313928T>C | CA205301046 | MTPAP | c.1430A>G (p.Gln477Arg) n.3185A>G | dbSNP |
10 | g.30313928T>G | CA5458943 | MTPAP | c.1430A>C (p.Gln477Pro) n.3185A>C | dbSNP ExAC gnomAD v2 |
10 | g.30313928T= | CA1899314043 | MTPAP | c.1430A= (p.Gln477=) n.3185A= | |
10 | g.30313929G>A | CA376434794 | MTPAP | c.1429C>T (p.Gln477Ter) n.3184C>T | |
10 | g.30313929G>C | CA205301061 | MTPAP | c.1429C>G (p.Gln477Glu) n.3184C>G | dbSNP gnomAD v4 |
10 | g.30313929G= | CA1899314044 | MTPAP | c.1429C= (p.Gln477=) n.3184C= | |
10 | g.30313929G>T | CA376434795 | MTPAP | c.1429C>A (p.Gln477Lys) n.3184C>A | |
10 | g.30313930A>C | CA376434796 | MTPAP | c.1428T>G (p.Ile476Met) n.3183T>G | |
10 | g.30313930A>G | CA468798936 | MTPAP | c.1428T>C (p.Ile476=) n.3183T>C | |
10 | g.30313930A>T | CA468798938 | MTPAP | c.1428T>A (p.Ile476=) n.3183T>A | |
10 | g.30313931A>C | CA376434798 | MTPAP | c.1427T>G (p.Ile476Ser) n.3182T>G | |
10 | g.30313931A>G | CA376434799 | MTPAP | c.1427T>C (p.Ile476Thr) n.3182T>C | |
10 | g.30313931A>T | CA376434797 | MTPAP | c.1427T>A (p.Ile476Asn) n.3182T>A | |
10 | g.30313932T>A | CA376434800 | MTPAP | c.1426A>T (p.Ile476Phe) n.3181A>T | |
10 | g.30313932T>C | CA5458944 | MTPAP | c.1426A>G (p.Ile476Val) n.3181A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313932T>G | CA376434801 | MTPAP | c.1426A>C (p.Ile476Leu) n.3181A>C | |
10 | g.30313932T= | CA1899314045 | MTPAP | c.1426A= (p.Ile476=) n.3181A= | |
10 | g.30313933G>A | CA468798949 | MTPAP | c.1425C>T (p.Tyr475=) n.3180C>T | dbSNP |
10 | g.30313933G>C | CA376434802 | MTPAP | c.1425C>G (p.Tyr475Ter) n.3180C>G | |
10 | g.30313933G= | CA1899314046 | MTPAP | c.1425C= (p.Tyr475=) n.3180C= | |
10 | g.30313933G>T | CA376434803 | MTPAP | c.1425C>A (p.Tyr475Ter) n.3180C>A | |
10 | g.30313934T>A | CA376434804 | MTPAP | c.1424A>T (p.Tyr475Phe) n.3179A>T | |
10 | g.30313934T>C | CA376434806 | MTPAP | c.1424A>G (p.Tyr475Cys) n.3179A>G | gnomAD v4 |
10 | g.30313934T>G | CA376434805 | MTPAP | c.1424A>C (p.Tyr475Ser) n.3179A>C | |
10 | g.30313935A= | CA1899314047 | MTPAP | c.1423T= (p.Tyr475=) n.3178T= | |
10 | g.30313935A>C | CA376434807 | MTPAP | c.1423T>G (p.Tyr475Asp) n.3178T>G | |
10 | g.30313935A>G | CA5458945 | MTPAP | c.1423T>C (p.Tyr475His) n.3178T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313935A>T | CA376434808 | MTPAP | c.1423T>A (p.Tyr475Asn) n.3178T>A | |
10 | g.30313936C>A | CA468798967 | MTPAP | c.1422G>T (p.Leu474=) n.3177G>T | |
10 | g.30313936C= | CA1899314048 | MTPAP | c.1422G= (p.Leu474=) n.3177G= | |
10 | g.30313936C>G | CA5458946 | MTPAP | c.1422G>C (p.Leu474=) n.3177G>C | dbSNP ExAC gnomAD v2 |
10 | g.30313936C>T | CA468798971 | MTPAP | c.1422G>A (p.Leu474=) n.3177G>A | |
10 | g.30313937A>C | CA376434809 | MTPAP | c.1421T>G (p.Leu474Arg) n.3176T>G | |
10 | g.30313937A>G | CA376434810 | MTPAP | c.1421T>C (p.Leu474Pro) n.3176T>C | |
10 | g.30313937A>T | CA376434811 | MTPAP | c.1421T>A (p.Leu474Gln) n.3176T>A | |
10 | g.30313937_30313940delinsAGAG | CA1899314049 | MTPAP | c.1418_1421delinsCTCT (p.Pro473=) n.3173_3176delinsCTCT | |
10 | g.30313938G>A | CA5458947 | MTPAP | c.1420C>T (p.Leu474=) n.3175C>T | dbSNP ExAC |
10 | g.30313938G>C | CA376434812 | MTPAP | c.1420C>G (p.Leu474Val) n.3175C>G | COSMIC COSMIC |
10 | g.30313938G= | CA1899314050 | MTPAP | c.1420C= (p.Leu474=) n.3175C= | |
10 | g.30313938G>T | CA376434813 | MTPAP | c.1420C>A (p.Leu474Met) n.3175C>A | |
10 | g.30313941_30313943del | CA658783074 | MTPAP | c.1418_1420del (p.Pro473del) n.3173_3175del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313939A= | CA1899314051 | MTPAP | c.1419T= (p.Pro473=) n.3174T= | |
10 | g.30313939A>C | CA468798991 | MTPAP | c.1419T>G (p.Pro473=) n.3174T>G | |
10 | g.30313939A>G | CA205301075 | MTPAP | c.1419T>C (p.Pro473=) n.3174T>C | ClinVar dbSNP gnomAD v4 |
10 | g.30313939A>T | CA468798999 | MTPAP | c.1419T>A (p.Pro473=) n.3174T>A | |
10 | g.30313939_30313940insT | CA5458948 | MTPAP | c.1418_1419insA (p.Leu474SerfsTer8) n.3173_3174insA | dbSNP ExAC |
10 | g.30313940G>A | CA376434814 | MTPAP | c.1418C>T (p.Pro473Leu) n.3173C>T | |
10 | g.30313940G>C | CA376434815 | MTPAP | c.1418C>G (p.Pro473Arg) n.3173C>G | gnomAD v4 |
10 | g.30313940G>T | CA376434816 | MTPAP | c.1418C>A (p.Pro473His) n.3173C>A | |
10 | g.30313941G>A | CA376434817 | MTPAP | c.1417C>T (p.Pro473Ser) n.3172C>T | |
10 | g.30313941G>C | CA376434819 | MTPAP | c.1417C>G (p.Pro473Ala) n.3172C>G | |
10 | g.30313941G>T | CA376434818 | MTPAP | c.1417C>A (p.Pro473Thr) n.3172C>A | |
10 | g.30313942A= | CA1899314052 | MTPAP | c.1416T= (p.Ser472=) n.3171T= | |
10 | g.30313942A>C | CA468799009 | MTPAP | c.1416T>G (p.Ser472=) n.3171T>G | |
10 | g.30313942A>G | CA468799008 | MTPAP | c.1416T>C (p.Ser472=) n.3171T>C | |
10 | g.30313942A>T | CA468799006 | MTPAP | c.1416T>A (p.Ser472=) n.3171T>A | |
10 | g.30313942_30313943insTTT | CA5458949 | MTPAP | c.1415_1416insAAA (p.Ser472_Pro473insAsn) n.3170_3171insAAA | dbSNP ExAC |
10 | g.30313943G>A | CA376434820 | MTPAP | c.1415C>T (p.Ser472Phe) n.3170C>T | |
10 | g.30313943G>C | CA376434821 | MTPAP | c.1415C>G (p.Ser472Cys) n.3170C>G | |
10 | g.30313943G= | CA1899314053 | MTPAP | c.1415C= (p.Ser472=) n.3170C= | |
10 | g.30313943G>T | CA376434822 | MTPAP | c.1415C>A (p.Ser472Tyr) n.3170C>A | gnomAD v4 |
10 | g.30313943_30313944insTCTCAAAAAAC | CA5458950 | MTPAP | c.1414_1415insGTTTTTTGAGA (p.Ser472CysfsTer19) n.3169_3170insGTTTTTTGAGA | dbSNP ExAC |
10 | g.30313944A>C | CA376434823 | MTPAP | c.1414T>G (p.Ser472Ala) n.3169T>G | |
10 | g.30313944A>G | CA376434824 | MTPAP | c.1414T>C (p.Ser472Pro) n.3169T>C | |
10 | g.30313944A>T | CA376434825 | MTPAP | c.1414T>A (p.Ser472Thr) n.3169T>A | |
10 | g.30313945A= | CA1899314054 | MTPAP | c.1413T= (p.Ser471=) n.3168T= | |
10 | g.30313945A>C | CA468799022 | MTPAP | c.1413T>G (p.Ser471=) n.3168T>G | gnomAD v4 |
10 | g.30313945A>G | CA5458951 | MTPAP | c.1413T>C (p.Ser471=) n.3168T>C | dbSNP ExAC gnomAD v2 |
10 | g.30313945A>T | CA468799027 | MTPAP | c.1413T>A (p.Ser471=) n.3168T>A | |
10 | g.30313946G>A | CA5458952 | MTPAP | c.1412C>T (p.Ser471Phe) n.3167C>T | dbSNP ExAC |
10 | g.30313946G>C | CA376434827 | MTPAP | c.1412C>G (p.Ser471Cys) n.3167C>G | gnomAD v4 |
10 | g.30313946G= | CA1899314055 | MTPAP | c.1412C= (p.Ser471=) n.3167C= | |
10 | g.30313946G>T | CA376434826 | MTPAP | c.1412C>A (p.Ser471Tyr) n.3167C>A | |
10 | g.30313947A= | CA1899314056 | MTPAP | c.1411T= (p.Ser471=) n.3166T= | |
10 | g.30313947A>C | CA5458953 | MTPAP | c.1411T>G (p.Ser471Ala) n.3166T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313947A>G | CA376434828 | MTPAP | c.1411T>C (p.Ser471Pro) n.3166T>C | |
10 | g.30313947A>T | CA376434829 | MTPAP | c.1411T>A (p.Ser471Thr) n.3166T>A | |
10 | g.30313948A>C | CA376434830 | MTPAP | c.1410T>G (p.Asp470Glu) n.3165T>G | |
10 | g.30313948A>G | CA468799040 | MTPAP | c.1410T>C (p.Asp470=) n.3165T>C | |
10 | g.30313948A>T | CA376434831 | MTPAP | c.1410T>A (p.Asp470Glu) n.3165T>A | |
10 | g.30313949T>A | CA376434832 | MTPAP | c.1409A>T (p.Asp470Val) n.3164A>T | gnomAD v4 |
10 | g.30313949T>C | CA376434833 | MTPAP | c.1409A>G (p.Asp470Gly) n.3164A>G | |
10 | g.30313949T>G | CA376434834 | MTPAP | c.1409A>C (p.Asp470Ala) n.3164A>C |