Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
10 | g.30313950C>A | CA376434835 | MTPAP | c.1408G>T (p.Asp470Tyr) n.3163G>T | |
10 | g.30313950C>G | CA376434836 | MTPAP | c.1408G>C (p.Asp470His) n.3163G>C | gnomAD v4 |
10 | g.30313950C>T | CA376434837 | MTPAP | c.1408G>A (p.Asp470Asn) n.3163G>A | |
10 | g.30313951A>C | CA468799050 | MTPAP | c.1407T>G (p.Pro469=) n.3162T>G | |
10 | g.30313951A>G | CA468799053 | MTPAP | c.1407T>C (p.Pro469=) n.3162T>C | |
10 | g.30313951A>T | CA468799055 | MTPAP | c.1407T>A (p.Pro469=) n.3162T>A | gnomAD v4 |
10 | g.30313952G>A | CA376434839 | MTPAP | c.1406C>T (p.Pro469Leu) n.3161C>T | |
10 | g.30313952G>C | CA376434840 | MTPAP | c.1406C>G (p.Pro469Arg) n.3161C>G | |
10 | g.30313952G>T | CA376434838 | MTPAP | c.1406C>A (p.Pro469His) n.3161C>A | |
10 | g.30313953G>A | CA376434841 | MTPAP | c.1405C>T (p.Pro469Ser) n.3160C>T | gnomAD v4 |
10 | g.30313953G>C | CA376434842 | MTPAP | c.1405C>G (p.Pro469Ala) n.3160C>G | |
10 | g.30313953G>T | CA376434843 | MTPAP | c.1405C>A (p.Pro469Thr) n.3160C>A | |
10 | g.30313954T>A | CA376434844 | MTPAP | c.1404A>T (p.Lys468Asn) n.3159A>T | |
10 | g.30313954T>C | CA468799066 | MTPAP | c.1404A>G (p.Lys468=) n.3159A>G | |
10 | g.30313954T>G | CA376434845 | MTPAP | c.1404A>C (p.Lys468Asn) n.3159A>C | |
10 | g.30313955T>A | CA376434848 | MTPAP | c.1403A>T (p.Lys468Ile) n.3158A>T | |
10 | g.30313955T>C | CA376434846 | MTPAP | c.1403A>G (p.Lys468Arg) n.3158A>G | |
10 | g.30313955T>G | CA376434847 | MTPAP | c.1403A>C (p.Lys468Thr) n.3158A>C | |
10 | g.30313956T>A | CA376434849 | MTPAP | c.1402A>T (p.Lys468Ter) n.3157A>T | |
10 | g.30313956T>C | CA376434850 | MTPAP | c.1402A>G (p.Lys468Glu) n.3157A>G | |
10 | g.30313956T>G | CA376434851 | MTPAP | c.1402A>C (p.Lys468Gln) n.3157A>C | |
10 | g.30313957G>A | CA468799070 | MTPAP | c.1401C>T (p.Asn467=) n.3156C>T | gnomAD v4 |
10 | g.30313957G>C | CA376434852 | MTPAP | c.1401C>G (p.Asn467Lys) n.3156C>G | |
10 | g.30313957G>T | CA376434853 | MTPAP | c.1401C>A (p.Asn467Lys) n.3156C>A | |
10 | g.30313958T>A | CA376434856 | MTPAP | c.1400A>T (p.Asn467Ile) n.3155A>T | |
10 | g.30313958T>C | CA376434855 | MTPAP | c.1400A>G (p.Asn467Ser) n.3155A>G | |
10 | g.30313958T>G | CA376434854 | MTPAP | c.1400A>C (p.Asn467Thr) n.3155A>C | |
10 | g.30313959T>A | CA376434857 | MTPAP | c.1399A>T (p.Asn467Tyr) n.3154A>T | |
10 | g.30313959T>C | CA376434859 | MTPAP | c.1399A>G (p.Asn467Asp) n.3154A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313959T>G | CA376434858 | MTPAP | c.1399A>C (p.Asn467His) n.3154A>C | |
10 | g.30313959T= | CA1899314057 | MTPAP | c.1399A= (p.Asn467=) n.3154A= | |
10 | g.30313960T>A | CA376434860 | MTPAP | c.1398A>T (p.Gln466His) n.3153A>T | |
10 | g.30313960T>C | CA468799086 | MTPAP | c.1398A>G (p.Gln466=) n.3153A>G | |
10 | g.30313960T>G | CA376434861 | MTPAP | c.1398A>C (p.Gln466His) n.3153A>C | |
10 | g.30313961T>A | CA376434862 | MTPAP | c.1397A>T (p.Gln466Leu) n.3152A>T | |
10 | g.30313961T>C | CA376434863 | MTPAP | c.1397A>G (p.Gln466Arg) n.3152A>G | |
10 | g.30313961T>G | CA376434864 | MTPAP | c.1397A>C (p.Gln466Pro) n.3152A>C | |
10 | g.30313962G>A | CA376434865 | MTPAP | c.1396C>T (p.Gln466Ter) n.3151C>T | |
10 | g.30313962G>C | CA376434866 | MTPAP | c.1396C>G (p.Gln466Glu) n.3151C>G | |
10 | g.30313962G>T | CA376434867 | MTPAP | c.1396C>A (p.Gln466Lys) n.3151C>A | |
10 | g.30313963C>A | CA376434868 | MTPAP | c.1395G>T (p.Glu465Asp) n.3150G>T | |
10 | g.30313963C= | CA1899314058 | MTPAP | c.1395G= (p.Glu465=) n.3150G= | |
10 | g.30313963C>G | CA376434869 | MTPAP | c.1395G>C (p.Glu465Asp) n.3150G>C | |
10 | g.30313963C>T | CA468799105 | MTPAP | c.1395G>A (p.Glu465=) n.3150G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313964T>A | CA376434870 | MTPAP | c.1394A>T (p.Glu465Val) n.3149A>T | gnomAD v4 |
10 | g.30313964T>C | CA376434871 | MTPAP | c.1394A>G (p.Glu465Gly) n.3149A>G | |
10 | g.30313964T>G | CA376434872 | MTPAP | c.1394A>C (p.Glu465Ala) n.3149A>C | |
10 | g.30313965C>A | CA376434873 | MTPAP | c.1393G>T (p.Glu465Ter) n.3148G>T | |
10 | g.30313965C= | CA1899314059 | MTPAP | c.1393G= (p.Glu465=) n.3148G= | |
10 | g.30313965C>G | CA376434874 | MTPAP | c.1393G>C (p.Glu465Gln) n.3148G>C | |
10 | g.30313965C>T | CA5458954 | MTPAP | c.1393G>A (p.Glu465Lys) n.3148G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313966C>A | CA376434875 | MTPAP | c.1392G>T (p.Arg464Ser) n.3147G>T | |
10 | g.30313966C>G | CA376434876 | MTPAP | c.1392G>C (p.Arg464Ser) n.3147G>C | |
10 | g.30313966C>T | CA468799124 | MTPAP | c.1392G>A (p.Arg464=) n.3147G>A | gnomAD v4 |
10 | g.30313967C>A | CA376434877 | MTPAP | c.1391G>T (p.Arg464Met) n.3146G>T | |
10 | g.30313967C= | CA1899314060 | MTPAP | c.1391G= (p.Arg464=) n.3146G= | |
10 | g.30313967C>G | CA376434878 | MTPAP | c.1391G>C (p.Arg464Thr) n.3146G>C | |
10 | g.30313967C>T | CA205301134 | MTPAP | c.1391G>A (p.Arg464Lys) n.3146G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313968T>A | CA376434879 | MTPAP | c.1390A>T (p.Arg464Trp) n.3145A>T | |
10 | g.30313968T>C | CA376434880 | MTPAP | c.1390A>G (p.Arg464Gly) n.3145A>G | |
10 | g.30313968T>G | CA468799137 | MTPAP | c.1390A>C (p.Arg464=) n.3145A>C | |
10 | g.30313969T>A | CA468799139 | MTPAP | c.1389A>T (p.Gly463=) n.3144A>T | |
10 | g.30313969T>C | CA468799140 | MTPAP | c.1389A>G (p.Gly463=) n.3144A>G | |
10 | g.30313969T>G | CA468799141 | MTPAP | c.1389A>C (p.Gly463=) n.3144A>C | |
10 | g.30313970C>A | CA376434881 | MTPAP | c.1388G>T (p.Gly463Val) n.3143G>T | |
10 | g.30313970C= | CA1899314061 | MTPAP | c.1388G= (p.Gly463=) n.3143G= | |
10 | g.30313970C>G | CA376434882 | MTPAP | c.1388G>C (p.Gly463Ala) n.3143G>C | dbSNP gnomAD v4 |
10 | g.30313970C>T | CA376434883 | MTPAP | c.1388G>A (p.Gly463Glu) n.3143G>A | |
10 | g.30313971C>A | CA376434886 | MTPAP | c.1387G>T (p.Gly463Ter) n.3142G>T | |
10 | g.30313971C>G | CA376434885 | MTPAP | c.1387G>C (p.Gly463Arg) n.3142G>C | |
10 | g.30313971C>T | CA376434884 | MTPAP | c.1387G>A (p.Gly463Arg) n.3142G>A | |
10 | g.30313972C>A | CA376434887 | MTPAP | c.1387-1G>T (n.1387-1G>T) n.3142-1G>T | |
10 | g.30313972C= | CA1899314062 | MTPAP | c.1387-1G= (n.1387-1G=) n.3142-1G= | |
10 | g.30313972C>G | CA376434888 | MTPAP | c.1387-1G>C (n.1387-1G>C) n.3142-1G>C | |
10 | g.30313972C>T | CA376434889 | MTPAP | c.1387-1G>A (n.1387-1G>A) n.3142-1G>A | ClinVar dbSNP |
10 | g.30313973T>A | CA376434890 | MTPAP | c.1387-2A>T (n.1387-2A>T) n.3142-2A>T | |
10 | g.30313973T>C | CA376434891 | MTPAP | c.1387-2A>G (n.1387-2A>G) n.3142-2A>G | |
10 | g.30313973T>G | CA376434892 | MTPAP | c.1387-2A>C (n.1387-2A>C) n.3142-2A>C | |
10 | g.30313974A= | CA1899314063 | MTPAP | c.1387-3T= (n.1387-3T=) n.3142-3T= | |
10 | g.30313974A>G | CA663650829 | MTPAP | c.1387-3T>C (n.1387-3T>C) n.3142-3T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313975T>C | CA5458955 | MTPAP | c.1387-4A>G (n.1387-4A>G) n.3142-4A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313975T= | CA1899314064 | MTPAP | c.1387-4A= (n.1387-4A=) n.3142-4A= | |
10 | g.30313977G>A | CA592781533 | MTPAP | c.1387-6C>T (n.1387-6C>T) n.3142-6C>T | dbSNP gnomAD v2 |
10 | g.30313977G>C | CA5458956 | MTPAP | c.1387-6C>G (n.1387-6C>G) n.3142-6C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313977G= | CA1899314065 | MTPAP | c.1387-6C= (n.1387-6C=) n.3142-6C= | |
10 | g.30313982_30313984del | CA2574454151 | MTPAP | c.1387-9_1387-7del (n.1387-9_1387-7del) n.3142-9_3142-7del | gnomAD v4 |
10 | g.30313980T>G | CA2608695955 | MTPAP | c.1387-9A>C (n.1387-9A>C) n.3142-9A>C | gnomAD v4 |
10 | g.30313981A= | CA1899314066 | MTPAP | c.1387-10T= (n.1387-10T=) n.3142-10T= | |
10 | g.30313981A>G | CA5458957 | MTPAP | c.1387-10T>C (n.1387-10T>C) n.3142-10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313982T>A | CA592781534 | MTPAP | c.1387-11A>T (n.1387-11A>T) n.3142-11A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313982T>C | CA663650843 | MTPAP | c.1387-11A>G (n.1387-11A>G) n.3142-11A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313982T>G | CA2787135263 | MTPAP | c.1387-11A>C (n.1387-11A>C) n.3142-11A>C | |
10 | g.30313982T= | CA1899314067 | MTPAP | c.1387-11A= (n.1387-11A=) n.3142-11A= | |
10 | g.30313983del | CA2574454152 | MTPAP | c.1387-11del (n.1387-11del) n.3142-11del | |
10 | g.30313983T>A | CA592781535 | MTPAP | c.1387-12A>T (n.1387-12A>T) n.3142-12A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313983T= | CA1899314068 | MTPAP | c.1387-12A= (n.1387-12A=) n.3142-12A= | |
10 | g.30313984_30313988del | CA2787135264 | MTPAP | c.1387-17_1387-13del (n.1387-17_1387-13del) n.3142-17_3142-13del | |
10 | g.30313985C>A | CA592781536 | MTPAP | c.1387-14G>T (n.1387-14G>T) n.3142-14G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313985C= | CA1899314069 | MTPAP | c.1387-14G= (n.1387-14G=) n.3142-14G= | |
10 | g.30313987C>A | CA5458958 | MTPAP | c.1387-16G>T (n.1387-16G>T) n.3142-16G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313987C= | CA1899314070 | MTPAP | c.1387-16G= (n.1387-16G=) n.3142-16G= | |
10 | g.30313987C>G | CA2608695967 | MTPAP | c.1387-16G>C (n.1387-16G>C) n.3142-16G>C | gnomAD v4 |
10 | g.30313987C>T | CA2580081481 | MTPAP | c.1387-16G>A (n.1387-16G>A) n.3142-16G>A | ClinVar gnomAD v4 |