| 5 | g.69419665A>C | CA359922728 | MARVELD2 | c.280A>C (p.Lys94Gln)
| |
| 5 | g.69419665A>G | CA359922733 | MARVELD2 | c.280A>G (p.Lys94Glu)
| |
| 5 | g.69419665A>T | CA359922730 | MARVELD2 | c.280A>T (p.Lys94Ter)
| |
| 5 | g.69419669del | CA2709348308 | MARVELD2 | c.284del (p.Lys95ArgfsTer?)
| dbSNP |
| 5 | g.69419666A>C | CA359922737 | MARVELD2 | c.281A>C (p.Lys94Thr)
| |
| 5 | g.69419666A>G | CA359922738 | MARVELD2 | c.281A>G (p.Lys94Arg)
| |
| 5 | g.69419666A>T | CA359922741 | MARVELD2 | c.281A>T (p.Lys94Ile)
| |
| 5 | g.69419667A>C | CA359922744 | MARVELD2 | c.282A>C (p.Lys94Asn)
| |
| 5 | g.69419667A>G | CA445083372 | MARVELD2 | c.282A>G (p.Lys94=)
| |
| 5 | g.69419667A>T | CA359922747 | MARVELD2 | c.282A>T (p.Lys94Asn)
| |
| 5 | g.69419667_69419671delinsAAAGG | CA1553915990 | MARVELD2 | c.282_286delinsAAAGG (p.Lys94=)
| |
| 5 | g.69419668A>C | CA359922750 | MARVELD2 | c.283A>C (p.Lys95Gln)
| |
| 5 | g.69419668A>G | CA359922751 | MARVELD2 | c.283A>G (p.Lys95Glu)
| |
| 5 | g.69419668A>T | CA359922752 | MARVELD2 | c.283A>T (p.Lys95Ter)
| |
| 5 | g.69419669_69419672del | CA1077192010 | MARVELD2 | c.284_287del (p.Lys95ThrfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419669A>C | CA359922754 | MARVELD2 | c.284A>C (p.Lys95Thr)
| |
| 5 | g.69419669A>G | CA359922758 | MARVELD2 | c.284A>G (p.Lys95Arg)
| |
| 5 | g.69419669A>T | CA359922756 | MARVELD2 | c.284A>T (p.Lys95Met)
| |
| 5 | g.69419670G>A | CA445083379 | MARVELD2 | c.285G>A (p.Lys95=)
| |
| 5 | g.69419670G>C | CA359922761 | MARVELD2 | c.285G>C (p.Lys95Asn)
| |
| 5 | g.69419670G>T | CA359922764 | MARVELD2 | c.285G>T (p.Lys95Asn)
| |
| 5 | g.69419671G>A | CA359922767 | MARVELD2 | c.286G>A (p.Asp96Asn)
| |
| 5 | g.69419671G>C | CA359922768 | MARVELD2 | c.286G>C (p.Asp96His)
| |
| 5 | g.69419671G>T | CA359922769 | MARVELD2 | c.286G>T (p.Asp96Tyr)
| |
| 5 | g.69419672A>C | CA359922773 | MARVELD2 | c.287A>C (p.Asp96Ala)
| |
| 5 | g.69419672A>G | CA359922776 | MARVELD2 | c.287A>G (p.Asp96Gly)
| |
| 5 | g.69419672A>T | CA359922774 | MARVELD2 | c.287A>T (p.Asp96Val)
| gnomAD v4 |
| 5 | g.69419673C>A | CA176712 | MARVELD2 | c.288C>A (p.Asp96Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419673C= | CA1553915997 | MARVELD2 | c.288C= (p.Asp96=)
| |
| 5 | g.69419673C>G | CA359922780 | MARVELD2 | c.288C>G (p.Asp96Glu)
| COSMIC |
| 5 | g.69419673C>T | CA445083392 | MARVELD2 | c.288C>T (p.Asp96=)
| |
| 5 | g.69419674C>A | CA359922783 | MARVELD2 | c.289C>A (p.Pro97Thr)
| |
| 5 | g.69419674C= | CA1553916003 | MARVELD2 | c.289C= (p.Pro97=)
| |
| 5 | g.69419674C>G | CA359922784 | MARVELD2 | c.289C>G (p.Pro97Ala)
| |
| 5 | g.69419674C>T | CA359922786 | MARVELD2 | c.289C>T (p.Pro97Ser)
| dbSNP |
| 5 | g.69419675C>A | CA3294010 | MARVELD2 | c.290C>A (p.Pro97His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419675C= | CA1553916007 | MARVELD2 | c.290C= (p.Pro97=)
| |
| 5 | g.69419675C>G | CA359922791 | MARVELD2 | c.290C>G (p.Pro97Arg)
| |
| 5 | g.69419675C>T | CA359922793 | MARVELD2 | c.290C>T (p.Pro97Leu)
| |
| 5 | g.69419676C>A | CA445083394 | MARVELD2 | c.291C>A (p.Pro97=)
| gnomAD v4 |
| 5 | g.69419676C= | CA1553916011 | MARVELD2 | c.291C= (p.Pro97=)
| |
| 5 | g.69419676C>G | CA445083395 | MARVELD2 | c.291C>G (p.Pro97=)
| |
| 5 | g.69419676C>T | CA3294011 | MARVELD2 | c.291C>T (p.Pro97=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419677G>A | CA3294012 | MARVELD2 | c.292G>A (p.Glu98Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419677G>C | CA359922798 | MARVELD2 | c.292G>C (p.Glu98Gln)
| |
| 5 | g.69419677G= | CA1553916016 | MARVELD2 | c.292G= (p.Glu98=)
| |
| 5 | g.69419677G>T | CA359922800 | MARVELD2 | c.292G>T (p.Glu98Ter)
| |
| 5 | g.69419678A>C | CA359922804 | MARVELD2 | c.293A>C (p.Glu98Ala)
| |
| 5 | g.69419678A>G | CA359922815 | MARVELD2 | c.293A>G (p.Glu98Gly)
| gnomAD v4 |
| 5 | g.69419678A>T | CA359922812 | MARVELD2 | c.293A>T (p.Glu98Val)
| |
| 5 | g.69419679A>C | CA359922818 | MARVELD2 | c.294A>C (p.Glu98Asp)
| |
| 5 | g.69419679A>G | CA445083400 | MARVELD2 | c.294A>G (p.Glu98=)
| gnomAD v4 |
| 5 | g.69419679A>T | CA359922821 | MARVELD2 | c.294A>T (p.Glu98Asp)
| |
| 5 | g.69419680T>A | CA359922824 | MARVELD2 | c.295T>A (p.Trp99Arg)
| |
| 5 | g.69419680T>C | CA359922825 | MARVELD2 | c.295T>C (p.Trp99Arg)
| dbSNP |
| 5 | g.69419680T>G | CA359922826 | MARVELD2 | c.295T>G (p.Trp99Gly)
| |
| 5 | g.69419680T= | CA1553916021 | MARVELD2 | c.295T= (p.Trp99=)
| |
| 5 | g.69419681G>A | CA119991200 | MARVELD2 | c.296G>A (p.Trp99Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419681G>C | CA359922829 | MARVELD2 | c.296G>C (p.Trp99Ser)
| |
| 5 | g.69419681G= | CA1553916024 | MARVELD2 | c.296G= (p.Trp99=)
| |
| 5 | g.69419681G>T | CA359922827 | MARVELD2 | c.296G>T (p.Trp99Leu)
| |
| 5 | g.69419682G>A | CA359922832 | MARVELD2 | c.297G>A (p.Trp99Ter)
| gnomAD v4 |
| 5 | g.69419682G>C | CA359922835 | MARVELD2 | c.297G>C (p.Trp99Cys)
| |
| 5 | g.69419682G>T | CA359922836 | MARVELD2 | c.297G>T (p.Trp99Cys)
| |
| 5 | g.69419683G>A | CA359922839 | MARVELD2 | c.298G>A (p.Asp100Asn)
| |
| 5 | g.69419683G>C | CA359922843 | MARVELD2 | c.298G>C (p.Asp100His)
| |
| 5 | g.69419683G>T | CA359922846 | MARVELD2 | c.298G>T (p.Asp100Tyr)
| |
| 5 | g.69419684A>C | CA359922847 | MARVELD2 | c.299A>C (p.Asp100Ala)
| |
| 5 | g.69419684A>G | CA359922853 | MARVELD2 | c.299A>G (p.Asp100Gly)
| |
| 5 | g.69419684A>T | CA359922850 | MARVELD2 | c.299A>T (p.Asp100Val)
| |
| 5 | g.69419685T>A | CA359922855 | MARVELD2 | c.300T>A (p.Asp100Glu)
| |
| 5 | g.69419685T>C | CA445083419 | MARVELD2 | c.300T>C (p.Asp100=)
| |
| 5 | g.69419685T>G | CA359922857 | MARVELD2 | c.300T>G (p.Asp100Glu)
| |
| 5 | g.69419685T= | CA1553916029 | MARVELD2 | c.300T= (p.Asp100=)
| |
| 5 | g.69419686A= | CA1553916032 | MARVELD2 | c.301A= (p.Lys101=)
| |
| 5 | g.69419686A>C | CA359922862 | MARVELD2 | c.301A>C (p.Lys101Gln)
| dbSNP |
| 5 | g.69419686A>G | CA359922865 | MARVELD2 | c.301A>G (p.Lys101Glu)
| |
| 5 | g.69419686A>T | CA359922867 | MARVELD2 | c.301A>T (p.Lys101Ter)
| dbSNP |
| 5 | g.69419687dup | CA3294013 | MARVELD2 | c.302dup (p.Pro102AlafsTer4)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419687A>C | CA359922871 | MARVELD2 | c.302A>C (p.Lys101Thr)
| |
| 5 | g.69419687A>G | CA359922874 | MARVELD2 | c.302A>G (p.Lys101Arg)
| |
| 5 | g.69419687A>T | CA359922877 | MARVELD2 | c.302A>T (p.Lys101Met)
| |
| 5 | g.69419688G>A | CA445083444 | MARVELD2 | c.303G>A (p.Lys101=)
| |
| 5 | g.69419688G>C | CA359922882 | MARVELD2 | c.303G>C (p.Lys101Asn)
| |
| 5 | g.69419688G>T | CA359922884 | MARVELD2 | c.303G>T (p.Lys101Asn)
| |
| 5 | g.69419689C>A | CA359922888 | MARVELD2 | c.304C>A (p.Pro102Thr)
| |
| 5 | g.69419689C= | CA1553916037 | MARVELD2 | c.304C= (p.Pro102=)
| |
| 5 | g.69419689C>G | CA119991218 | MARVELD2 | c.304C>G (p.Pro102Ala)
| dbSNP |
| 5 | g.69419689C>T | CA3294014 | MARVELD2 | c.304C>T (p.Pro102Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419690C>A | CA359922896 | MARVELD2 | c.305C>A (p.Pro102Gln)
| |
| 5 | g.69419690C= | CA1553916041 | MARVELD2 | c.305C= (p.Pro102=)
| |
| 5 | g.69419690C>G | CA359922901 | MARVELD2 | c.305C>G (p.Pro102Arg)
| |
| 5 | g.69419690C>T | CA359922898 | MARVELD2 | c.305C>T (p.Pro102Leu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419691G>A | CA3294015 | MARVELD2 | c.306G>A (p.Pro102=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419691G>C | CA445083448 | MARVELD2 | c.306G>C (p.Pro102=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419691G= | CA1553916047 | MARVELD2 | c.306G= (p.Pro102=)
| |
| 5 | g.69419691G>T | CA445083449 | MARVELD2 | c.306G>T (p.Pro102=)
| dbSNP gnomAD v2 |
| 5 | g.69419692del | CA2674131174 | MARVELD2 | c.307del (p.Val103CysfsTer?)
| gnomAD v4 |
| 5 | g.69419692G>A | CA359922907 | MARVELD2 | c.307G>A (p.Val103Met)
| |
| 5 | g.69419692G>C | CA359922908 | MARVELD2 | c.307G>C (p.Val103Leu)
| |
| 5 | g.69419692G>T | CA359922910 | MARVELD2 | c.307G>T (p.Val103Leu)
| gnomAD v4 |
| 5 | g.69419693T>A | CA359922912 | MARVELD2 | c.308T>A (p.Val103Glu)
| |
| 5 | g.69419693T>C | CA359922914 | MARVELD2 | c.308T>C (p.Val103Ala)
| |
| 5 | g.69419693T>G | CA359922919 | MARVELD2 | c.308T>G (p.Val103Gly)
| |
| 5 | g.69419694G>A | CA3294016 | MARVELD2 | c.309G>A (p.Val103=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419694G>C | CA445083459 | MARVELD2 | c.309G>C (p.Val103=)
| |
| 5 | g.69419694G= | CA1553916053 | MARVELD2 | c.309G= (p.Val103=)
| |
| 5 | g.69419694G>T | CA445083460 | MARVELD2 | c.309G>T (p.Val103=)
| |
| 5 | g.69419695T>A | CA359922931 | MARVELD2 | c.310T>A (p.Ser104Thr)
| |
| 5 | g.69419695T>C | CA359922932 | MARVELD2 | c.310T>C (p.Ser104Pro)
| |
| 5 | g.69419695T>G | CA359922937 | MARVELD2 | c.310T>G (p.Ser104Ala)
| |
| 5 | g.69419696C>A | CA359922947 | MARVELD2 | c.311C>A (p.Ser104Tyr)
| |
| 5 | g.69419696C= | CA1553916057 | MARVELD2 | c.311C= (p.Ser104=)
| |
| 5 | g.69419696C>G | CA359922945 | MARVELD2 | c.311C>G (p.Ser104Cys)
| |
| 5 | g.69419696C>T | CA359922942 | MARVELD2 | c.311C>T (p.Ser104Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419697T>A | CA445083174 | MARVELD2 | c.312T>A (p.Ser104=)
| |
| 5 | g.69419697T>C | CA445083176 | MARVELD2 | c.312T>C (p.Ser104=)
| |
| 5 | g.69419697T>G | CA445083178 | MARVELD2 | c.312T>G (p.Ser104=)
| |
| 5 | g.69419698G>A | CA359922950 | MARVELD2 | c.313G>A (p.Asp105Asn)
| |
| 5 | g.69419698G>C | CA359922952 | MARVELD2 | c.313G>C (p.Asp105His)
| COSMIC |
| 5 | g.69419698G>T | CA359922954 | MARVELD2 | c.313G>T (p.Asp105Tyr)
| |
| 5 | g.69419699A= | CA1553916059 | MARVELD2 | c.314A= (p.Asp105=)
| |
| 5 | g.69419699A>C | CA359922959 | MARVELD2 | c.314A>C (p.Asp105Ala)
| gnomAD v4 |
| 5 | g.69419699A>G | CA359922960 | MARVELD2 | c.314A>G (p.Asp105Gly)
| dbSNP |
| 5 | g.69419699A>T | CA359922963 | MARVELD2 | c.314A>T (p.Asp105Val)
| |
| 5 | g.69419700T>A | CA359922970 | MARVELD2 | c.315T>A (p.Asp105Glu)
| |
| 5 | g.69419700T>C | CA445083187 | MARVELD2 | c.315T>C (p.Asp105=)
| gnomAD v4 |
| 5 | g.69419700T>G | CA359922972 | MARVELD2 | c.315T>G (p.Asp105Glu)
| |
| 5 | g.69419701A>C | CA359922975 | MARVELD2 | c.316A>C (p.Ile106Leu)
| gnomAD v4 |
| 5 | g.69419701A>G | CA359922978 | MARVELD2 | c.316A>G (p.Ile106Val)
| |
| 5 | g.69419701A>T | CA359922981 | MARVELD2 | c.316A>T (p.Ile106Phe)
| |
| 5 | g.69419702T>A | CA359922989 | MARVELD2 | c.317T>A (p.Ile106Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419702T>C | CA359922987 | MARVELD2 | c.317T>C (p.Ile106Thr)
| dbSNP gnomAD v4 |
| 5 | g.69419702T>G | CA359922984 | MARVELD2 | c.317T>G (p.Ile106Ser)
| |
| 5 | g.69419702T= | CA1553916062 | MARVELD2 | c.317T= (p.Ile106=)
| |
| 5 | g.69419703C>A | CA445083192 | MARVELD2 | c.318C>A (p.Ile106=)
| |
| 5 | g.69419703C>G | CA359922991 | MARVELD2 | c.318C>G (p.Ile106Met)
| gnomAD v4 |
| 5 | g.69419703C>T | CA445083193 | MARVELD2 | c.318C>T (p.Ile106=)
| |
| 5 | g.69419704A>C | CA445083194 | MARVELD2 | c.319A>C (p.Arg107=)
| |
| 5 | g.69419704A>G | CA359922994 | MARVELD2 | c.319A>G (p.Arg107Gly)
| |
| 5 | g.69419704A>T | CA359922995 | MARVELD2 | c.319A>T (p.Arg107Trp)
| |
| 5 | g.69419705G>A | CA3294017 | MARVELD2 | c.320G>A (p.Arg107Lys)
| dbSNP ExAC gnomAD v2 COSMIC |
| 5 | g.69419705G>C | CA359923004 | MARVELD2 | c.320G>C (p.Arg107Thr)
| |
| 5 | g.69419705G= | CA1553916066 | MARVELD2 | c.320G= (p.Arg107=)
| |
| 5 | g.69419705G>T | CA359923007 | MARVELD2 | c.320G>T (p.Arg107Met)
| |
| 5 | g.69419706G>A | CA445083197 | MARVELD2 | c.321G>A (p.Arg107=)
| dbSNP gnomAD v4 |
| 5 | g.69419706G>C | CA359923010 | MARVELD2 | c.321G>C (p.Arg107Ser)
| |
| 5 | g.69419706G= | CA1553916069 | MARVELD2 | c.321G= (p.Arg107=)
| |
| 5 | g.69419706G>T | CA359923012 | MARVELD2 | c.321G>T (p.Arg107Ser)
| |
| 5 | g.69419707T>A | CA359923015 | MARVELD2 | c.322T>A (p.Tyr108Asn)
| |
| 5 | g.69419707T>C | CA359923017 | MARVELD2 | c.322T>C (p.Tyr108His)
| |
| 5 | g.69419707T>G | CA359923019 | MARVELD2 | c.322T>G (p.Tyr108Asp)
| |
| 5 | g.69419708A>C | CA359923022 | MARVELD2 | c.323A>C (p.Tyr108Ser)
| |
| 5 | g.69419708A>G | CA359923035 | MARVELD2 | c.323A>G (p.Tyr108Cys)
| gnomAD v4 |
| 5 | g.69419708A>T | CA359923039 | MARVELD2 | c.323A>T (p.Tyr108Phe)
| |
| 5 | g.69419709C>A | CA359923041 | MARVELD2 | c.324C>A (p.Tyr108Ter)
| |
| 5 | g.69419709C= | CA1553916070 | MARVELD2 | c.324C= (p.Tyr108=)
| |
| 5 | g.69419709C>G | CA359923045 | MARVELD2 | c.324C>G (p.Tyr108Ter)
| |
| 5 | g.69419709C>T | CA445083206 | MARVELD2 | c.324C>T (p.Tyr108=)
| dbSNP |
| 5 | g.69419710A>C | CA359923049 | MARVELD2 | c.325A>C (p.Ile109Leu)
| gnomAD v4 |
| 5 | g.69419710A>G | CA359923051 | MARVELD2 | c.325A>G (p.Ile109Val)
| |
| 5 | g.69419710A>T | CA359923053 | MARVELD2 | c.325A>T (p.Ile109Phe)
| |
| 5 | g.69419711T>A | CA359923056 | MARVELD2 | c.326T>A (p.Ile109Asn)
| |
| 5 | g.69419711T>C | CA359923059 | MARVELD2 | c.326T>C (p.Ile109Thr)
| |
| 5 | g.69419711T>G | CA359923062 | MARVELD2 | c.326T>G (p.Ile109Ser)
| |
| 5 | g.69419712C>A | CA445083223 | MARVELD2 | c.327C>A (p.Ile109=)
| |
| 5 | g.69419712C= | CA1553916072 | MARVELD2 | c.327C= (p.Ile109=)
| |
| 5 | g.69419712C>G | CA359923064 | MARVELD2 | c.327C>G (p.Ile109Met)
| |
| 5 | g.69419712C>T | CA445083226 | MARVELD2 | c.327C>T (p.Ile109=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419712_69419713delinsCT | CA1553916073 | MARVELD2 | c.327_328delinsCT (p.Ile109=)
| |
| 5 | g.69419713del | CA3294018 | MARVELD2 | c.328del (p.Ser110ProfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419713T>A | CA359923067 | MARVELD2 | c.328T>A (p.Ser110Thr)
| |
| 5 | g.69419713T>C | CA359923070 | MARVELD2 | c.328T>C (p.Ser110Pro)
| |
| 5 | g.69419713T>G | CA359923073 | MARVELD2 | c.328T>G (p.Ser110Ala)
| |
| 5 | g.69419714C>A | CA359923087 | MARVELD2 | c.329C>A (p.Ser110Tyr)
| |
| 5 | g.69419714C>G | CA359923084 | MARVELD2 | c.329C>G (p.Ser110Cys)
| |
| 5 | g.69419714C>T | CA359923081 | MARVELD2 | c.329C>T (p.Ser110Phe)
| |
| 5 | g.69419715del | CA2766864333 | MARVELD2 | c.330del (p.Asp111MetfsTer?)
| |
| 5 | g.69419715C>A | CA445083234 | MARVELD2 | c.330C>A (p.Ser110=)
| dbSNP gnomAD v2 |
| 5 | g.69419715C= | CA1553916081 | MARVELD2 | c.330C= (p.Ser110=)
| |
| 5 | g.69419715C>G | CA445083233 | MARVELD2 | c.330C>G (p.Ser110=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419715C>T | CA3294019 | MARVELD2 | c.330C>T (p.Ser110=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419716G>A | CA133015 | MARVELD2 | c.331G>A (p.Asp111Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419716G>C | CA359923092 | MARVELD2 | c.331G>C (p.Asp111His)
| |
| 5 | g.69419716G= | CA1553916086 | MARVELD2 | c.331G= (p.Asp111=)
| |
| 5 | g.69419716G>T | CA359923095 | MARVELD2 | c.331G>T (p.Asp111Tyr)
| |
| 5 | g.69419717A>C | CA359923098 | MARVELD2 | c.332A>C (p.Asp111Ala)
| |
| 5 | g.69419717A>G | CA359923102 | MARVELD2 | c.332A>G (p.Asp111Gly)
| |
| 5 | g.69419717A>T | CA359923105 | MARVELD2 | c.332A>T (p.Asp111Val)
| |
| 5 | g.69419718T>A | CA359923108 | MARVELD2 | c.333T>A (p.Asp111Glu)
| |
| 5 | g.69419718T>C | CA445083242 | MARVELD2 | c.333T>C (p.Asp111=)
| dbSNP gnomAD v4 |
| 5 | g.69419718T>G | CA359923111 | MARVELD2 | c.333T>G (p.Asp111Glu)
| |
| 5 | g.69419719G>A | CA359923113 | MARVELD2 | c.334G>A (p.Gly112Arg)
| |
| 5 | g.69419719G>C | CA359923114 | MARVELD2 | c.334G>C (p.Gly112Arg)
| |
| 5 | g.69419719G>T | CA359923117 | MARVELD2 | c.334G>T (p.Gly112Ter)
| |
| 5 | g.69419720G>A | CA359923120 | MARVELD2 | c.335G>A (p.Gly112Glu)
| |
| 5 | g.69419720G>C | CA359923122 | MARVELD2 | c.335G>C (p.Gly112Ala)
| |
| 5 | g.69419720G>T | CA359923125 | MARVELD2 | c.335G>T (p.Gly112Val)
| |
| 5 | g.69419721A= | CA1553916093 | MARVELD2 | c.336A= (p.Gly112=)
| |
| 5 | g.69419721A>C | CA445083251 | MARVELD2 | c.336A>C (p.Gly112=)
| |
| 5 | g.69419721A>G | CA445083253 | MARVELD2 | c.336A>G (p.Gly112=)
| gnomAD v4 |
| 5 | g.69419721A>T | CA3294020 | MARVELD2 | c.336A>T (p.Gly112=)
| dbSNP ExAC gnomAD v4 |
| 5 | g.69419722G>A | CA3294021 | MARVELD2 | c.337G>A (p.Val113Met)
| dbSNP ExAC gnomAD v2 |
| 5 | g.69419722G>C | CA359923131 | MARVELD2 | c.337G>C (p.Val113Leu)
| |
| 5 | g.69419722G= | CA1553916096 | MARVELD2 | c.337G= (p.Val113=)
| |
| 5 | g.69419722G>T | CA359923133 | MARVELD2 | c.337G>T (p.Val113Leu)
| |
| 5 | g.69419723T>A | CA359923136 | MARVELD2 | c.338T>A (p.Val113Glu)
| |
| 5 | g.69419723T>C | CA359923139 | MARVELD2 | c.338T>C (p.Val113Ala)
| |
| 5 | g.69419723T>G | CA359923141 | MARVELD2 | c.338T>G (p.Val113Gly)
| |
| 5 | g.69419724G>A | CA445083258 | MARVELD2 | c.339G>A (p.Val113=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419724G>C | CA445083261 | MARVELD2 | c.339G>C (p.Val113=)
| gnomAD v4 |
| 5 | g.69419724G= | CA1553916102 | MARVELD2 | c.339G= (p.Val113=)
| |
| 5 | g.69419724G>T | CA445083263 | MARVELD2 | c.339G>T (p.Val113=)
| |
| 5 | g.69419725G>A | CA359923144 | MARVELD2 | c.340G>A (p.Glu114Lys)
| |
| 5 | g.69419725G>C | CA359923147 | MARVELD2 | c.340G>C (p.Glu114Gln)
| dbSNP gnomAD v4 |
| 5 | g.69419725G= | CA1553916107 | MARVELD2 | c.340G= (p.Glu114=)
| |
| 5 | g.69419725G>T | CA3294022 | MARVELD2 | c.340G>T (p.Glu114Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419726A>C | CA359923153 | MARVELD2 | c.341A>C (p.Glu114Ala)
| |
| 5 | g.69419726A>G | CA359923156 | MARVELD2 | c.341A>G (p.Glu114Gly)
| gnomAD v4 |
| 5 | g.69419726A>T | CA359923158 | MARVELD2 | c.341A>T (p.Glu114Val)
| |
| 5 | g.69419727G>A | CA445083271 | MARVELD2 | c.342G>A (p.Glu114=)
| gnomAD v4 |
| 5 | g.69419727G>C | CA359923161 | MARVELD2 | c.342G>C (p.Glu114Asp)
| |
| 5 | g.69419727G>T | CA359923164 | MARVELD2 | c.342G>T (p.Glu114Asp)
| |
| 5 | g.69419728T>A | CA359923168 | MARVELD2 | c.343T>A (p.Cys115Ser)
| |
| 5 | g.69419728T>C | CA359923170 | MARVELD2 | c.343T>C (p.Cys115Arg)
| |
| 5 | g.69419728T>G | CA3294023 | MARVELD2 | c.343T>G (p.Cys115Gly)
| dbSNP ExAC gnomAD v4 |
| 5 | g.69419728T= | CA1553916112 | MARVELD2 | c.343T= (p.Cys115=)
| |
| 5 | g.69419729G>A | CA359923172 | MARVELD2 | c.344G>A (p.Cys115Tyr)
| dbSNP gnomAD v2 |
| 5 | g.69419729G>C | CA359923174 | MARVELD2 | c.344G>C (p.Cys115Ser)
| |
| 5 | g.69419729G= | CA1553916113 | MARVELD2 | c.344G= (p.Cys115=)
| |
| 5 | g.69419729G>T | CA3294024 | MARVELD2 | c.344G>T (p.Cys115Phe)
| dbSNP ExAC |
| 5 | g.69419730T>A | CA359923175 | MARVELD2 | c.345T>A (p.Cys115Ter)
| |
| 5 | g.69419730T>C | CA445083280 | MARVELD2 | c.345T>C (p.Cys115=)
| COSMIC |
| 5 | g.69419730T>G | CA359923176 | MARVELD2 | c.345T>G (p.Cys115Trp)
| |
| 5 | g.69419731T>A | CA359923177 | MARVELD2 | c.346T>A (p.Ser116Thr)
| |
| 5 | g.69419731T>C | CA3294025 | MARVELD2 | c.346T>C (p.Ser116Pro)
| dbSNP ExAC gnomAD v4 |
| 5 | g.69419731T>G | CA359923178 | MARVELD2 | c.346T>G (p.Ser116Ala)
| |
| 5 | g.69419731T= | CA1553916114 | MARVELD2 | c.346T= (p.Ser116=)
| |
| 5 | g.69419732C>A | CA359923179 | MARVELD2 | c.347C>A (p.Ser116Ter)
| |
| 5 | g.69419732C>G | CA359923180 | MARVELD2 | c.347C>G (p.Ser116Ter)
| |
| 5 | g.69419732C>T | CA359923181 | MARVELD2 | c.347C>T (p.Ser116Leu)
| |
| 5 | g.69419737_69419739del | CA2674131175 | MARVELD2 | c.352_354del (p.Pro118del)
| gnomAD v4 |
| 5 | g.69419733A= | CA1553916115 | MARVELD2 | c.348A= (p.Ser116=)
| |
| 5 | g.69419733A>C | CA3294026 | MARVELD2 | c.348A>C (p.Ser116=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419733A>G | CA445083287 | MARVELD2 | c.348A>G (p.Ser116=)
| |
| 5 | g.69419733A>T | CA445083288 | MARVELD2 | c.348A>T (p.Ser116=)
| |
| 5 | g.69419734C>A | CA359923183 | MARVELD2 | c.349C>A (p.Pro117Thr)
| |
| 5 | g.69419734C>G | CA359923184 | MARVELD2 | c.349C>G (p.Pro117Ala)
| |
| 5 | g.69419734C>T | CA359923182 | MARVELD2 | c.349C>T (p.Pro117Ser)
| |
| 5 | g.69419735C>A | CA359923185 | MARVELD2 | c.350C>A (p.Pro117Gln)
| |
| 5 | g.69419735C>G | CA359923186 | MARVELD2 | c.350C>G (p.Pro117Arg)
| |
| 5 | g.69419735C>T | CA359923187 | MARVELD2 | c.350C>T (p.Pro117Leu)
| |
| 5 | g.69419736A= | CA1553916117 | MARVELD2 | c.351A= (p.Pro117=)
| |
| 5 | g.69419736A>C | CA3294027 | MARVELD2 | c.351A>C (p.Pro117=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419736A>G | CA445083299 | MARVELD2 | c.351A>G (p.Pro117=)
| |
| 5 | g.69419736A>T | CA445083300 | MARVELD2 | c.351A>T (p.Pro117=)
| |
| 5 | g.69419737C>A | CA359923190 | MARVELD2 | c.352C>A (p.Pro118Thr)
| |
| 5 | g.69419737C>G | CA359923189 | MARVELD2 | c.352C>G (p.Pro118Ala)
| |
| 5 | g.69419737C>T | CA359923188 | MARVELD2 | c.352C>T (p.Pro118Ser)
| |
| 5 | g.69419738C>A | CA359923191 | MARVELD2 | c.353C>A (p.Pro118Gln)
| |
| 5 | g.69419738C= | CA1553916119 | MARVELD2 | c.353C= (p.Pro118=)
| |
| 5 | g.69419738C>G | CA3294028 | MARVELD2 | c.353C>G (p.Pro118Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419738C>T | CA359923192 | MARVELD2 | c.353C>T (p.Pro118Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419739A>C | CA445083314 | MARVELD2 | c.354A>C (p.Pro118=)
| gnomAD v4 |
| 5 | g.69419739A>G | CA445083316 | MARVELD2 | c.354A>G (p.Pro118=)
| gnomAD v4 |
| 5 | g.69419739A>T | CA445083318 | MARVELD2 | c.354A>T (p.Pro118=)
| |
| 5 | g.69419740G>A | CA359923193 | MARVELD2 | c.355G>A (p.Ala119Thr)
| |
| 5 | g.69419740G>C | CA359923194 | MARVELD2 | c.355G>C (p.Ala119Pro)
| |
| 5 | g.69419740G= | CA1553916124 | MARVELD2 | c.355G= (p.Ala119=)
| |
| 5 | g.69419740G>T | CA359923195 | MARVELD2 | c.355G>T (p.Ala119Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419741C>A | CA359923198 | MARVELD2 | c.356C>A (p.Ala119Asp)
| |
| 5 | g.69419741C= | CA1553916127 | MARVELD2 | c.356C= (p.Ala119=)
| |
| 5 | g.69419741C>G | CA359923197 | MARVELD2 | c.356C>G (p.Ala119Gly)
| |
| 5 | g.69419741C>T | CA359923196 | MARVELD2 | c.356C>T (p.Ala119Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419742C>A | CA445083324 | MARVELD2 | c.357C>A (p.Ala119=)
| |
| 5 | g.69419742C= | CA1553916130 | MARVELD2 | c.357C= (p.Ala119=)
| |
| 5 | g.69419742C>G | CA3294029 | MARVELD2 | c.357C>G (p.Ala119=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419742C>T | CA445083323 | MARVELD2 | c.357C>T (p.Ala119=)
| gnomAD v4 |
| 5 | g.69419743T>A | CA359923201 | MARVELD2 | c.358T>A (p.Ser120Thr)
| |
| 5 | g.69419743T>C | CA359923199 | MARVELD2 | c.358T>C (p.Ser120Pro)
| |
| 5 | g.69419743T>G | CA359923200 | MARVELD2 | c.358T>G (p.Ser120Ala)
| |
| 5 | g.69419744C>A | CA359923202 | MARVELD2 | c.359C>A (p.Ser120Tyr)
| |
| 5 | g.69419744C= | CA1553916134 | MARVELD2 | c.359C= (p.Ser120=)
| |
| 5 | g.69419744C>G | CA359923203 | MARVELD2 | c.359C>G (p.Ser120Cys)
| |
| 5 | g.69419744C>T | CA359923204 | MARVELD2 | c.359C>T (p.Ser120Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419745T>A | CA445083331 | MARVELD2 | c.360T>A (p.Ser120=)
| gnomAD v4 |
| 5 | g.69419745T>C | CA445083330 | MARVELD2 | c.360T>C (p.Ser120=)
| |
| 5 | g.69419745T>G | CA445083328 | MARVELD2 | c.360T>G (p.Ser120=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419745T= | CA1553916135 | MARVELD2 | c.360T= (p.Ser120=)
| |
| 5 | g.69419746C>A | CA359923207 | MARVELD2 | c.361C>A (p.Pro121Thr)
| |
| 5 | g.69419746C>G | CA359923206 | MARVELD2 | c.361C>G (p.Pro121Ala)
| |
| 5 | g.69419746C>T | CA359923205 | MARVELD2 | c.361C>T (p.Pro121Ser)
| gnomAD v4 |
| 5 | g.69419747C>A | CA359923208 | MARVELD2 | c.362C>A (p.Pro121Gln)
| |
| 5 | g.69419747C>G | CA359923209 | MARVELD2 | c.362C>G (p.Pro121Arg)
| |
| 5 | g.69419747C>T | CA359923210 | MARVELD2 | c.362C>T (p.Pro121Leu)
| gnomAD v4 |
| 5 | g.69419748A= | CA1553916138 | MARVELD2 | c.363A= (p.Pro121=)
| |
| 5 | g.69419748A>C | CA445083335 | MARVELD2 | c.363A>C (p.Pro121=)
| ClinVar dbSNP gnomAD v2 |
| 5 | g.69419748A>G | CA445083338 | MARVELD2 | c.363A>G (p.Pro121=)
| |
| 5 | g.69419748A>T | CA445083336 | MARVELD2 | c.363A>T (p.Pro121=)
| |
| 5 | g.69419749G>A | CA182264 | MARVELD2 | c.364G>A (p.Ala122Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419749G>C | CA359923211 | MARVELD2 | c.364G>C (p.Ala122Pro)
| |
| 5 | g.69419749G= | CA1553916144 | MARVELD2 | c.364G= (p.Ala122=)
| |
| 5 | g.69419749G>T | CA359923212 | MARVELD2 | c.364G>T (p.Ala122Ser)
| |
| 5 | g.69419750C>A | CA359923213 | MARVELD2 | c.365C>A (p.Ala122Glu)
| |
| 5 | g.69419750C= | CA1553916150 | MARVELD2 | c.365C= (p.Ala122=)
| |
| 5 | g.69419750C>G | CA359923215 | MARVELD2 | c.365C>G (p.Ala122Gly)
| dbSNP |
| 5 | g.69419750C>T | CA359923214 | MARVELD2 | c.365C>T (p.Ala122Val)
| |
| 5 | g.69419751A>C | CA445083345 | MARVELD2 | c.366A>C (p.Ala122=)
| |
| 5 | g.69419751A>G | CA445083349 | MARVELD2 | c.366A>G (p.Ala122=)
| |
| 5 | g.69419751A>T | CA445083350 | MARVELD2 | c.366A>T (p.Ala122=)
| |
| 5 | g.69419752A>C | CA445083352 | MARVELD2 | c.367A>C (p.Arg123=)
| |
| 5 | g.69419752A>G | CA359923216 | MARVELD2 | c.367A>G (p.Arg123Gly)
| |
| 5 | g.69419752A>T | CA359923217 | MARVELD2 | c.367A>T (p.Arg123Ter)
| |
| 5 | g.69419753G>A | CA359923218 | MARVELD2 | c.368G>A (p.Arg123Lys)
| |
| 5 | g.69419753G>C | CA359923219 | MARVELD2 | c.368G>C (p.Arg123Thr)
| gnomAD v4 |
| 5 | g.69419753G>T | CA359923220 | MARVELD2 | c.368G>T (p.Arg123Ile)
| |
| 5 | g.69419754A= | CA1553916153 | MARVELD2 | c.369A= (p.Arg123=)
| |
| 5 | g.69419754A>C | CA359923221 | MARVELD2 | c.369A>C (p.Arg123Ser)
| |
| 5 | g.69419754A>G | CA445083358 | MARVELD2 | c.369A>G (p.Arg123=)
| dbSNP |
| 5 | g.69419754A>T | CA359923222 | MARVELD2 | c.369A>T (p.Arg123Ser)
| |
| 5 | g.69419755C>A | CA3294030 | MARVELD2 | c.370C>A (p.Pro124Thr)
| dbSNP ExAC |
| 5 | g.69419755C= | CA1553916156 | MARVELD2 | c.370C= (p.Pro124=)
| |
| 5 | g.69419755C>G | CA359923223 | MARVELD2 | c.370C>G (p.Pro124Ala)
| |
| 5 | g.69419755C>T | CA359923224 | MARVELD2 | c.370C>T (p.Pro124Ser)
| ClinVar |
| 5 | g.69419756C>A | CA359923227 | MARVELD2 | c.371C>A (p.Pro124Gln)
| |
| 5 | g.69419756C= | CA1553916159 | MARVELD2 | c.371C= (p.Pro124=)
| |
| 5 | g.69419756C>G | CA359923226 | MARVELD2 | c.371C>G (p.Pro124Arg)
| |
| 5 | g.69419756C>T | CA359923225 | MARVELD2 | c.371C>T (p.Pro124Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419757A>C | CA445083367 | MARVELD2 | c.372A>C (p.Pro124=)
| |
| 5 | g.69419757A>G | CA445083368 | MARVELD2 | c.372A>G (p.Pro124=)
| dbSNP |
| 5 | g.69419757A>T | CA445083378 | MARVELD2 | c.372A>T (p.Pro124=)
| |
| 5 | g.69419758A>C | CA359923228 | MARVELD2 | c.373A>C (p.Asn125His)
| gnomAD v4 |
| 5 | g.69419758A>G | CA359923229 | MARVELD2 | c.373A>G (p.Asn125Asp)
| gnomAD v4 |
| 5 | g.69419758A>T | CA359923230 | MARVELD2 | c.373A>T (p.Asn125Tyr)
| |
| 5 | g.69419759A>C | CA359923231 | MARVELD2 | c.374A>C (p.Asn125Thr)
| |
| 5 | g.69419759A>G | CA359923232 | MARVELD2 | c.374A>G (p.Asn125Ser)
| |
| 5 | g.69419759A>T | CA359923233 | MARVELD2 | c.374A>T (p.Asn125Ile)
| |
| 5 | g.69419760C>A | CA359923234 | MARVELD2 | c.375C>A (p.Asn125Lys)
| |
| 5 | g.69419760C>G | CA359923235 | MARVELD2 | c.375C>G (p.Asn125Lys)
| |
| 5 | g.69419760C>T | CA445083393 | MARVELD2 | c.375C>T (p.Asn125=)
| |
| 5 | g.69419761C>A | CA359923236 | MARVELD2 | c.376C>A (p.His126Asn)
| |
| 5 | g.69419761C= | CA1553916162 | MARVELD2 | c.376C= (p.His126=)
| |
| 5 | g.69419761C>G | CA359923237 | MARVELD2 | c.376C>G (p.His126Asp)
| gnomAD v4 |
| 5 | g.69419761C>T | CA359923238 | MARVELD2 | c.376C>T (p.His126Tyr)
| dbSNP |
| 5 | g.69419762A>C | CA359923239 | MARVELD2 | c.377A>C (p.His126Pro)
| |
| 5 | g.69419762A>G | CA359923240 | MARVELD2 | c.377A>G (p.His126Arg)
| |
| 5 | g.69419762A>T | CA359923241 | MARVELD2 | c.377A>T (p.His126Leu)
| |
| 5 | g.69419763C>A | CA359923242 | MARVELD2 | c.378C>A (p.His126Gln)
| |
| 5 | g.69419763C>G | CA359923243 | MARVELD2 | c.378C>G (p.His126Gln)
| |
| 5 | g.69419763C>T | CA445083403 | MARVELD2 | c.378C>T (p.His126=)
| |
| 5 | g.69419764C>A | CA359923244 | MARVELD2 | c.379C>A (p.Arg127Ser)
| |
| 5 | g.69419764C= | CA1553916165 | MARVELD2 | c.379C= (p.Arg127=)
| |
| 5 | g.69419764C>G | CA359923245 | MARVELD2 | c.379C>G (p.Arg127Gly)
| |
| 5 | g.69419764C>T | CA3294031 | MARVELD2 | c.379C>T (p.Arg127Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419765G>A | CA3294032 | MARVELD2 | c.380G>A (p.Arg127His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419765G>C | CA359923246 | MARVELD2 | c.380G>C (p.Arg127Pro)
| |
| 5 | g.69419765G= | CA1553916168 | MARVELD2 | c.380G= (p.Arg127=)
| |
| 5 | g.69419765G>T | CA359923247 | MARVELD2 | c.380G>T (p.Arg127Leu)
| |
