| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420356C>A | CA3294151 | MARVELD2 | c.971C>A (p.Pro324Gln) c.726-103C>A (n.726-103C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420356C= | CA1553917269 | MARVELD2 | c.971C= (p.Pro324=) c.726-103C= (n.726-103C=) | |
| 5 | g.69420356C>G | CA359925076 | MARVELD2 | c.971C>G (p.Pro324Arg) c.726-103C>G (n.726-103C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420356C>T | CA359925077 | MARVELD2 | c.971C>T (p.Pro324Leu) c.726-103C>T (n.726-103C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420357G>A | CA445083759 | MARVELD2 | c.972G>A (p.Pro324=) c.726-102G>A (n.726-102G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420357G>C | CA445083760 | MARVELD2 | c.972G>C (p.Pro324=) c.726-102G>C (n.726-102G>C) | |
| 5 | g.69420357G= | CA1553917272 | MARVELD2 | c.972G= (p.Pro324=) c.726-102G= (n.726-102G=) | |
| 5 | g.69420357G>T | CA445083761 | MARVELD2 | c.972G>T (p.Pro324=) c.726-102G>T (n.726-102G>T) | |
| 5 | g.69420358T>A | CA359925078 | MARVELD2 | c.973T>A (p.Leu325Ile) c.726-101T>A (n.726-101T>A) | |
| 5 | g.69420358T>C | CA445083763 | MARVELD2 | c.973T>C (p.Leu325=) c.726-101T>C (n.726-101T>C) | |
| 5 | g.69420358T>G | CA359925079 | MARVELD2 | c.973T>G (p.Leu325Val) c.726-101T>G (n.726-101T>G) | |
| 5 | g.69420359T>A | CA359925081 | MARVELD2 | c.974T>A (p.Leu325Ter) c.726-100T>A (n.726-100T>A) | |
| 5 | g.69420359T>C | CA359925082 | MARVELD2 | c.974T>C (p.Leu325Ser) c.726-100T>C (n.726-100T>C) | |
| 5 | g.69420359T>G | CA359925080 | MARVELD2 | c.974T>G (p.Leu325Ter) c.726-100T>G (n.726-100T>G) | |
| 5 | g.69420360A= | CA1553917274 | MARVELD2 | c.975A= (p.Leu325=) c.726-99A= (n.726-99A=) | |
| 5 | g.69420360A>C | CA359925083 | MARVELD2 | c.975A>C (p.Leu325Phe) c.726-99A>C (n.726-99A>C) | |
| 5 | g.69420360A>G | CA445083765 | MARVELD2 | c.975A>G (p.Leu325=) c.726-99A>G (n.726-99A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420360A>T | CA359925084 | MARVELD2 | c.975A>T (p.Leu325Phe) c.726-99A>T (n.726-99A>T) | |
| 5 | g.69420361T>A | CA359925085 | MARVELD2 | c.976T>A (p.Phe326Ile) c.726-98T>A (n.726-98T>A) | |
| 5 | g.69420361T>C | CA359925086 | MARVELD2 | c.976T>C (p.Phe326Leu) c.726-98T>C (n.726-98T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420361T>G | CA359925087 | MARVELD2 | c.976T>G (p.Phe326Val) c.726-98T>G (n.726-98T>G) | |
| 5 | g.69420361T= | CA1553917276 | MARVELD2 | c.976T= (p.Phe326=) c.726-98T= (n.726-98T=) | |
| 5 | g.69420362T>A | CA359925088 | MARVELD2 | c.977T>A (p.Phe326Tyr) c.726-97T>A (n.726-97T>A) | |
| 5 | g.69420362T>C | CA359925089 | MARVELD2 | c.977T>C (p.Phe326Ser) c.726-97T>C (n.726-97T>C) | |
| 5 | g.69420362T>G | CA3294152 | MARVELD2 | c.977T>G (p.Phe326Cys) c.726-97T>G (n.726-97T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420362T= | CA1553917278 | MARVELD2 | c.977T= (p.Phe326=) c.726-97T= (n.726-97T=) | |
| 5 | g.69420363T>A | CA359925090 | MARVELD2 | c.978T>A (p.Phe326Leu) c.726-96T>A (n.726-96T>A) | |
| 5 | g.69420363T>C | CA445083772 | MARVELD2 | c.978T>C (p.Phe326=) c.726-96T>C (n.726-96T>C) | |
| 5 | g.69420363T>G | CA359925091 | MARVELD2 | c.978T>G (p.Phe326Leu) c.726-96T>G (n.726-96T>G) | |
| 5 | g.69420364A>C | CA359925092 | MARVELD2 | c.979A>C (p.Asn327His) c.726-95A>C (n.726-95A>C) | |
| 5 | g.69420364A>G | CA359925093 | MARVELD2 | c.979A>G (p.Asn327Asp) c.726-95A>G (n.726-95A>G) | |
| 5 | g.69420364A>T | CA359925094 | MARVELD2 | c.979A>T (p.Asn327Tyr) c.726-95A>T (n.726-95A>T) | |
| 5 | g.69420365A>C | CA359925097 | MARVELD2 | c.980A>C (p.Asn327Thr) c.726-94A>C (n.726-94A>C) | |
| 5 | g.69420365A>G | CA359925096 | MARVELD2 | c.980A>G (p.Asn327Ser) c.726-94A>G (n.726-94A>G) | |
| 5 | g.69420365A>T | CA359925095 | MARVELD2 | c.980A>T (p.Asn327Ile) c.726-94A>T (n.726-94A>T) | |
| 5 | g.69420366T>A | CA359925098 | MARVELD2 | c.981T>A (p.Asn327Lys) c.726-93T>A (n.726-93T>A) | |
| 5 | g.69420366T>C | CA445083775 | MARVELD2 | c.981T>C (p.Asn327=) c.726-93T>C (n.726-93T>C) | gnomAD v4 |
| 5 | g.69420366T>G | CA119992416 | MARVELD2 | c.981T>G (p.Asn327Lys) c.726-93T>G (n.726-93T>G) | dbSNP |
| 5 | g.69420366T= | CA1553917282 | MARVELD2 | c.981T= (p.Asn327=) c.726-93T= (n.726-93T=) | |
| 5 | g.69420367A>C | CA359925099 | MARVELD2 | c.982A>C (p.Thr328Pro) c.726-92A>C (n.726-92A>C) | |
| 5 | g.69420367A>G | CA359925100 | MARVELD2 | c.982A>G (p.Thr328Ala) c.726-92A>G (n.726-92A>G) | |
| 5 | g.69420367A>T | CA359925101 | MARVELD2 | c.982A>T (p.Thr328Ser) c.726-92A>T (n.726-92A>T) | |
| 5 | g.69420368C>A | CA359925102 | MARVELD2 | c.983C>A (p.Thr328Lys) c.726-91C>A (n.726-91C>A) | |
| 5 | g.69420368C= | CA1553917284 | MARVELD2 | c.983C= (p.Thr328=) c.726-91C= (n.726-91C=) | |
| 5 | g.69420368C>G | CA359925103 | MARVELD2 | c.983C>G (p.Thr328Arg) c.726-91C>G (n.726-91C>G) | |
| 5 | g.69420368C>T | CA359925104 | MARVELD2 | c.983C>T (p.Thr328Ile) c.726-91C>T (n.726-91C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420369A>C | CA445083778 | MARVELD2 | c.984A>C (p.Thr328=) c.726-90A>C (n.726-90A>C) | |
| 5 | g.69420369A>G | CA445083779 | MARVELD2 | c.984A>G (p.Thr328=) c.726-90A>G (n.726-90A>G) | |
| 5 | g.69420369A>T | CA445083780 | MARVELD2 | c.984A>T (p.Thr328=) c.726-90A>T (n.726-90A>T) | |
| 5 | g.69420370C>A | CA359925105 | MARVELD2 | c.985C>A (p.Pro329Thr) c.726-89C>A (n.726-89C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420370C= | CA1553917287 | MARVELD2 | c.985C= (p.Pro329=) c.726-89C= (n.726-89C=) | |
| 5 | g.69420370C>G | CA359925106 | MARVELD2 | c.985C>G (p.Pro329Ala) c.726-89C>G (n.726-89C>G) | |
| 5 | g.69420370C>T | CA359925107 | MARVELD2 | c.985C>T (p.Pro329Ser) c.726-89C>T (n.726-89C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420371C>A | CA359925108 | MARVELD2 | c.986C>A (p.Pro329Gln) c.726-88C>A (n.726-88C>A) | gnomAD v4 |
| 5 | g.69420371C>G | CA359925109 | MARVELD2 | c.986C>G (p.Pro329Arg) c.726-88C>G (n.726-88C>G) | |
| 5 | g.69420371C>T | CA359925110 | MARVELD2 | c.986C>T (p.Pro329Leu) c.726-88C>T (n.726-88C>T) | gnomAD v4 |
| 5 | g.69420372A= | CA1553917290 | MARVELD2 | c.987A= (p.Pro329=) c.726-87A= (n.726-87A=) | |
| 5 | g.69420372A>C | CA445083785 | MARVELD2 | c.987A>C (p.Pro329=) c.726-87A>C (n.726-87A>C) | |
| 5 | g.69420372A>G | CA445083786 | MARVELD2 | c.987A>G (p.Pro329=) c.726-87A>G (n.726-87A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420372A>T | CA445083788 | MARVELD2 | c.987A>T (p.Pro329=) c.726-87A>T (n.726-87A>T) | |
| 5 | g.69420373G>A | CA359925112 | MARVELD2 | c.988G>A (p.Val330Met) c.726-86G>A (n.726-86G>A) | |
| 5 | g.69420373G>C | CA359925113 | MARVELD2 | c.988G>C (p.Val330Leu) c.726-86G>C (n.726-86G>C) | |
| 5 | g.69420373G>T | CA359925111 | MARVELD2 | c.988G>T (p.Val330Leu) c.726-86G>T (n.726-86G>T) | |
| 5 | g.69420375_69420395del | CA2674131595 | MARVELD2 | c.990_1010del (p.Asn331_Val337del) c.726-84_726-64del (n.726-84_726-64del) | gnomAD v4 |
| 5 | g.69420374T>A | CA359925114 | MARVELD2 | c.989T>A (p.Val330Glu) c.726-85T>A (n.726-85T>A) | |
| 5 | g.69420374T>C | CA359925115 | MARVELD2 | c.989T>C (p.Val330Ala) c.726-85T>C (n.726-85T>C) | |
| 5 | g.69420374T>G | CA359925116 | MARVELD2 | c.989T>G (p.Val330Gly) c.726-85T>G (n.726-85T>G) | |
| 5 | g.69420375G>A | CA445083798 | MARVELD2 | c.990G>A (p.Val330=) c.726-84G>A (n.726-84G>A) | |
| 5 | g.69420375G>C | CA445083795 | MARVELD2 | c.990G>C (p.Val330=) c.726-84G>C (n.726-84G>C) | |
| 5 | g.69420375G>T | CA445083796 | MARVELD2 | c.990G>T (p.Val330=) c.726-84G>T (n.726-84G>T) | |
| 5 | g.69420376A>C | CA359925117 | MARVELD2 | c.991A>C (p.Asn331His) c.726-83A>C (n.726-83A>C) | |
| 5 | g.69420376A>G | CA359925118 | MARVELD2 | c.991A>G (p.Asn331Asp) c.726-83A>G (n.726-83A>G) | |
| 5 | g.69420376A>T | CA359925119 | MARVELD2 | c.991A>T (p.Asn331Tyr) c.726-83A>T (n.726-83A>T) | |
| 5 | g.69420377A>C | CA359925120 | MARVELD2 | c.992A>C (p.Asn331Thr) c.726-82A>C (n.726-82A>C) | |
| 5 | g.69420377A>G | CA359925121 | MARVELD2 | c.992A>G (p.Asn331Ser) c.726-82A>G (n.726-82A>G) | |
| 5 | g.69420377A>T | CA359925122 | MARVELD2 | c.992A>T (p.Asn331Ile) c.726-82A>T (n.726-82A>T) | |
| 5 | g.69420378T>A | CA359925123 | MARVELD2 | c.993T>A (p.Asn331Lys) c.726-81T>A (n.726-81T>A) | |
| 5 | g.69420378T>C | CA445083807 | MARVELD2 | c.993T>C (p.Asn331=) c.726-81T>C (n.726-81T>C) | |
| 5 | g.69420378T>G | CA359925124 | MARVELD2 | c.993T>G (p.Asn331Lys) c.726-81T>G (n.726-81T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420378T= | CA1553917291 | MARVELD2 | c.993T= (p.Asn331=) c.726-81T= (n.726-81T=) | |
| 5 | g.69420379G>A | CA359925125 | MARVELD2 | c.994G>A (p.Ala332Thr) c.726-80G>A (n.726-80G>A) | |
| 5 | g.69420379G>C | CA359925126 | MARVELD2 | c.994G>C (p.Ala332Pro) c.726-80G>C (n.726-80G>C) | |
| 5 | g.69420379G>T | CA359925127 | MARVELD2 | c.994G>T (p.Ala332Ser) c.726-80G>T (n.726-80G>T) | |
| 5 | g.69420380C>A | CA359925129 | MARVELD2 | c.995C>A (p.Ala332Glu) c.726-79C>A (n.726-79C>A) | |
| 5 | g.69420380C= | CA1553917295 | MARVELD2 | c.995C= (p.Ala332=) c.726-79C= (n.726-79C=) | |
| 5 | g.69420380C>G | CA359925128 | MARVELD2 | c.995C>G (p.Ala332Gly) c.726-79C>G (n.726-79C>G) | |
| 5 | g.69420380C>T | CA3294153 | MARVELD2 | c.995C>T (p.Ala332Val) c.726-79C>T (n.726-79C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420381A>C | CA445083821 | MARVELD2 | c.996A>C (p.Ala332=) c.726-78A>C (n.726-78A>C) | |
| 5 | g.69420381A>G | CA445083822 | MARVELD2 | c.996A>G (p.Ala332=) c.726-78A>G (n.726-78A>G) | |
| 5 | g.69420381A>T | CA445083824 | MARVELD2 | c.996A>T (p.Ala332=) c.726-78A>T (n.726-78A>T) | |
| 5 | g.69420382G>A | CA359925130 | MARVELD2 | c.997G>A (p.Val333Met) c.726-77G>A (n.726-77G>A) | dbSNP |
| 5 | g.69420382G>C | CA359925131 | MARVELD2 | c.997G>C (p.Val333Leu) c.726-77G>C (n.726-77G>C) | |
| 5 | g.69420382G= | CA1553917297 | MARVELD2 | c.997G= (p.Val333=) c.726-77G= (n.726-77G=) | |
| 5 | g.69420382G>T | CA359925132 | MARVELD2 | c.997G>T (p.Val333Leu) c.726-77G>T (n.726-77G>T) | |
| 5 | g.69420383T>A | CA359925133 | MARVELD2 | c.998T>A (p.Val333Glu) c.726-76T>A (n.726-76T>A) | gnomAD v4 |
| 5 | g.69420383T>C | CA359925134 | MARVELD2 | c.998T>C (p.Val333Ala) c.726-76T>C (n.726-76T>C) | gnomAD v4 |
| 5 | g.69420383T>G | CA359925135 | MARVELD2 | c.998T>G (p.Val333Gly) c.726-76T>G (n.726-76T>G) | |
| 5 | g.69420384G>A | CA445083828 | MARVELD2 | c.999G>A (p.Val333=) c.726-75G>A (n.726-75G>A) | |
| 5 | g.69420384G>C | CA445083830 | MARVELD2 | c.999G>C (p.Val333=) c.726-75G>C (n.726-75G>C) | |
| 5 | g.69420384G>T | CA445083831 | MARVELD2 | c.999G>T (p.Val333=) c.726-75G>T (n.726-75G>T) | |
| 5 | g.69420385T>A | CA359925136 | MARVELD2 | c.1000T>A (p.Phe334Ile) c.726-74T>A (n.726-74T>A) | |
| 5 | g.69420385T>C | CA359925137 | MARVELD2 | c.1000T>C (p.Phe334Leu) c.726-74T>C (n.726-74T>C) | |
| 5 | g.69420385T>G | CA359925138 | MARVELD2 | c.1000T>G (p.Phe334Val) c.726-74T>G (n.726-74T>G) | |
| 5 | g.69420386T>A | CA359925139 | MARVELD2 | c.1001T>A (p.Phe334Tyr) c.726-73T>A (n.726-73T>A) | |
| 5 | g.69420386T>C | CA359925140 | MARVELD2 | c.1001T>C (p.Phe334Ser) c.726-73T>C (n.726-73T>C) | |
| 5 | g.69420386T>G | CA359925141 | MARVELD2 | c.1001T>G (p.Phe334Cys) c.726-73T>G (n.726-73T>G) | |
| 5 | g.69420387C>A | CA359925142 | MARVELD2 | c.1002C>A (p.Phe334Leu) c.726-72C>A (n.726-72C>A) | |
| 5 | g.69420387C= | CA1553917302 | MARVELD2 | c.1002C= (p.Phe334=) c.726-72C= (n.726-72C=) | |
| 5 | g.69420387C>G | CA359925143 | MARVELD2 | c.1002C>G (p.Phe334Leu) c.726-72C>G (n.726-72C>G) | |
| 5 | g.69420387C>T | CA119992428 | MARVELD2 | c.1002C>T (p.Phe334=) c.726-72C>T (n.726-72C>T) | dbSNP |
| 5 | g.69420388T>A | CA359925145 | MARVELD2 | c.1003T>A (p.Cys335Ser) c.726-71T>A (n.726-71T>A) | |
| 5 | g.69420388T>C | CA359925146 | MARVELD2 | c.1003T>C (p.Cys335Arg) c.726-71T>C (n.726-71T>C) | |
| 5 | g.69420388T>G | CA359925144 | MARVELD2 | c.1003T>G (p.Cys335Gly) c.726-71T>G (n.726-71T>G) | |
| 5 | g.69420389G>A | CA359925147 | MARVELD2 | c.1004G>A (p.Cys335Tyr) c.726-70G>A (n.726-70G>A) | |
| 5 | g.69420389G>C | CA359925148 | MARVELD2 | c.1004G>C (p.Cys335Ser) c.726-70G>C (n.726-70G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420389G= | CA1553917304 | MARVELD2 | c.1004G= (p.Cys335=) c.726-70G= (n.726-70G=) | |
| 5 | g.69420389G>T | CA359925149 | MARVELD2 | c.1004G>T (p.Cys335Phe) c.726-70G>T (n.726-70G>T) | gnomAD v4 |
| 5 | g.69420390C>A | CA359925150 | MARVELD2 | c.1005C>A (p.Cys335Ter) c.726-69C>A (n.726-69C>A) | |
| 5 | g.69420390C>G | CA359925151 | MARVELD2 | c.1005C>G (p.Cys335Trp) c.726-69C>G (n.726-69C>G) | |
| 5 | g.69420390C>T | CA445083837 | MARVELD2 | c.1005C>T (p.Cys335=) c.726-69C>T (n.726-69C>T) | |
| 5 | g.69420391C>A | CA445083838 | MARVELD2 | c.1006C>A (p.Arg336=) c.726-68C>A (n.726-68C>A) | dbSNP |
| 5 | g.69420391C= | CA1553917307 | MARVELD2 | c.1006C= (p.Arg336=) c.726-68C= (n.726-68C=) | |
| 5 | g.69420391C>G | CA359925152 | MARVELD2 | c.1006C>G (p.Arg336Gly) c.726-68C>G (n.726-68C>G) | gnomAD v4 |
| 5 | g.69420391C>T | CA3294154 | MARVELD2 | c.1006C>T (p.Arg336Trp) c.726-68C>T (n.726-68C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420392G>A | CA3294155 | MARVELD2 | c.1007G>A (p.Arg336Gln) c.726-67G>A (n.726-67G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420392G>C | CA359925153 | MARVELD2 | c.1007G>C (p.Arg336Pro) c.726-67G>C (n.726-67G>C) | |
| 5 | g.69420392G= | CA1553917311 | MARVELD2 | c.1007G= (p.Arg336=) c.726-67G= (n.726-67G=) | |
| 5 | g.69420392G>T | CA119992463 | MARVELD2 | c.1007G>T (p.Arg336Leu) c.726-67G>T (n.726-67G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420393G>A | CA445083841 | MARVELD2 | c.1008G>A (p.Arg336=) c.726-66G>A (n.726-66G>A) | |
| 5 | g.69420393G>C | CA445083843 | MARVELD2 | c.1008G>C (p.Arg336=) c.726-66G>C (n.726-66G>C) | |
| 5 | g.69420393G>T | CA445083844 | MARVELD2 | c.1008G>T (p.Arg336=) c.726-66G>T (n.726-66G>T) | |
| 5 | g.69420394G>A | CA359925154 | MARVELD2 | c.1009G>A (p.Val337Ile) c.726-65G>A (n.726-65G>A) | gnomAD v4 |
| 5 | g.69420394G>C | CA359925155 | MARVELD2 | c.1009G>C (p.Val337Leu) c.726-65G>C (n.726-65G>C) | |
| 5 | g.69420394G>T | CA359925156 | MARVELD2 | c.1009G>T (p.Val337Leu) c.726-65G>T (n.726-65G>T) | |
| 5 | g.69420395T>A | CA359925159 | MARVELD2 | c.1010T>A (p.Val337Glu) c.726-64T>A (n.726-64T>A) | |
| 5 | g.69420395T>C | CA359925157 | MARVELD2 | c.1010T>C (p.Val337Ala) c.726-64T>C (n.726-64T>C) | |
| 5 | g.69420395T>G | CA359925158 | MARVELD2 | c.1010T>G (p.Val337Gly) c.726-64T>G (n.726-64T>G) | |
| 5 | g.69420396A>C | CA445083853 | MARVELD2 | c.1011A>C (p.Val337=) c.726-63A>C (n.726-63A>C) | |
| 5 | g.69420396A>G | CA445083851 | MARVELD2 | c.1011A>G (p.Val337=) c.726-63A>G (n.726-63A>G) | |
| 5 | g.69420396A>T | CA445083850 | MARVELD2 | c.1011A>T (p.Val337=) c.726-63A>T (n.726-63A>T) | |
| 5 | g.69420397G>A | CA359925160 | MARVELD2 | c.1012G>A (p.Glu338Lys) c.726-62G>A (n.726-62G>A) | |
| 5 | g.69420397G>C | CA359925161 | MARVELD2 | c.1012G>C (p.Glu338Gln) c.726-62G>C (n.726-62G>C) | |
| 5 | g.69420397G>T | CA359925162 | MARVELD2 | c.1012G>T (p.Glu338Ter) c.726-62G>T (n.726-62G>T) | |
| 5 | g.69420398A>C | CA359925163 | MARVELD2 | c.1013A>C (p.Glu338Ala) c.726-61A>C (n.726-61A>C) | |
| 5 | g.69420398A>G | CA359925164 | MARVELD2 | c.1013A>G (p.Glu338Gly) c.726-61A>G (n.726-61A>G) | |
| 5 | g.69420398A>T | CA359925165 | MARVELD2 | c.1013A>T (p.Glu338Val) c.726-61A>T (n.726-61A>T) | |
| 5 | g.69420398_69420401delinsAAGG | CA1553917315 | MARVELD2 | c.1013_1016delinsAAGG (p.Glu338=) c.726-61_726-58delinsAAGG (n.726-61_726-58delinsAAGG) | |
| 5 | g.69420399A>C | CA359925166 | MARVELD2 | c.1014A>C (p.Glu338Asp) c.726-60A>C (n.726-60A>C) | |
| 5 | g.69420399A>G | CA445083856 | MARVELD2 | c.1014A>G (p.Glu338=) c.726-60A>G (n.726-60A>G) | |
| 5 | g.69420399A>T | CA359925167 | MARVELD2 | c.1014A>T (p.Glu338Asp) c.726-60A>T (n.726-60A>T) | |
| 5 | g.69420403_69420405del | CA3294156 | MARVELD2 | c.1018_1020del (p.Gly340del) c.726-56_726-54del (n.726-56_726-54del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420400G>A | CA359925168 | MARVELD2 | c.1015G>A (p.Gly339Arg) c.726-59G>A (n.726-59G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420400G>C | CA359925169 | MARVELD2 | c.1015G>C (p.Gly339Arg) c.726-59G>C (n.726-59G>C) | |
| 5 | g.69420400G= | CA1553917319 | MARVELD2 | c.1015G= (p.Gly339=) c.726-59G= (n.726-59G=) | |
| 5 | g.69420400G>T | CA359925170 | MARVELD2 | c.1015G>T (p.Gly339Ter) c.726-59G>T (n.726-59G>T) | |
| 5 | g.69420401G>A | CA359925171 | MARVELD2 | c.1016G>A (p.Gly339Glu) c.726-58G>A (n.726-58G>A) | |
| 5 | g.69420401G>C | CA3294157 | MARVELD2 | c.1016G>C (p.Gly339Ala) c.726-58G>C (n.726-58G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420401G= | CA1553917324 | MARVELD2 | c.1016G= (p.Gly339=) c.726-58G= (n.726-58G=) | |
| 5 | g.69420401G>T | CA359925172 | MARVELD2 | c.1016G>T (p.Gly339Val) c.726-58G>T (n.726-58G>T) | |
| 5 | g.69420402A>C | CA445083860 | MARVELD2 | c.1017A>C (p.Gly339=) c.726-57A>C (n.726-57A>C) | |
| 5 | g.69420402A>G | CA445083863 | MARVELD2 | c.1017A>G (p.Gly339=) c.726-57A>G (n.726-57A>G) | |
| 5 | g.69420402A>T | CA445083862 | MARVELD2 | c.1017A>T (p.Gly339=) c.726-57A>T (n.726-57A>T) | |
| 5 | g.69420403G>A | CA3294158 | MARVELD2 | c.1018G>A (p.Gly340Arg) c.726-56G>A (n.726-56G>A) | dbSNP ExAC gnomAD v4 |
| 5 | g.69420403G>C | CA359925174 | MARVELD2 | c.1018G>C (p.Gly340Arg) c.726-56G>C (n.726-56G>C) | |
| 5 | g.69420403G= | CA1553917327 | MARVELD2 | c.1018G= (p.Gly340=) c.726-56G= (n.726-56G=) | |
| 5 | g.69420403G>T | CA359925173 | MARVELD2 | c.1018G>T (p.Gly340Ter) c.726-56G>T (n.726-56G>T) | |
| 5 | g.69420404G>A | CA3294159 | MARVELD2 | c.1019G>A (p.Gly340Glu) c.726-55G>A (n.726-55G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420404G>C | CA359925175 | MARVELD2 | c.1019G>C (p.Gly340Ala) c.726-55G>C (n.726-55G>C) | |
| 5 | g.69420404G= | CA1553917330 | MARVELD2 | c.1019G= (p.Gly340=) c.726-55G= (n.726-55G=) | |
| 5 | g.69420404G>T | CA359925176 | MARVELD2 | c.1019G>T (p.Gly340Val) c.726-55G>T (n.726-55G>T) | |
| 5 | g.69420405A>C | CA445083870 | MARVELD2 | c.1020A>C (p.Gly340=) c.726-54A>C (n.726-54A>C) | |
| 5 | g.69420405A>G | CA445083872 | MARVELD2 | c.1020A>G (p.Gly340=) c.726-54A>G (n.726-54A>G) | gnomAD v4 |
| 5 | g.69420405A>T | CA445083871 | MARVELD2 | c.1020A>T (p.Gly340=) c.726-54A>T (n.726-54A>T) | |
| 5 | g.69420406C>A | CA359925177 | MARVELD2 | c.1021C>A (p.Gln341Lys) c.726-53C>A (n.726-53C>A) | COSMIC |
| 5 | g.69420406C>G | CA359925178 | MARVELD2 | c.1021C>G (p.Gln341Glu) c.726-53C>G (n.726-53C>G) | |
| 5 | g.69420406C>T | CA359925179 | MARVELD2 | c.1021C>T (p.Gln341Ter) c.726-53C>T (n.726-53C>T) | gnomAD v4 |
| 5 | g.69420407del | CA2674131642 | MARVELD2 | c.1022del (p.Gln341ArgfsTer2) c.726-52del (n.726-52del) | gnomAD v4 |
| 5 | g.69420407A>C | CA359925180 | MARVELD2 | c.1022A>C (p.Gln341Pro) c.726-52A>C (n.726-52A>C) | |
| 5 | g.69420407A>G | CA359925181 | MARVELD2 | c.1022A>G (p.Gln341Arg) c.726-52A>G (n.726-52A>G) | |
| 5 | g.69420407A>T | CA359925182 | MARVELD2 | c.1022A>T (p.Gln341Leu) c.726-52A>T (n.726-52A>T) | |
| 5 | g.69420408G>A | CA445083874 | MARVELD2 | c.1023G>A (p.Gln341=) c.726-51G>A (n.726-51G>A) | |
| 5 | g.69420408G>C | CA359925183 | MARVELD2 | c.1023G>C (p.Gln341His) c.726-51G>C (n.726-51G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420408G= | CA1553917334 | MARVELD2 | c.1023G= (p.Gln341=) c.726-51G= (n.726-51G=) | |
| 5 | g.69420408G>T | CA359925184 | MARVELD2 | c.1023G>T (p.Gln341His) c.726-51G>T (n.726-51G>T) | |
| 5 | g.69420409A= | CA1553917337 | MARVELD2 | c.1024A= (p.Ile342=) c.726-50A= (n.726-50A=) | |
| 5 | g.69420409A>C | CA359925187 | MARVELD2 | c.1024A>C (p.Ile342Leu) c.726-50A>C (n.726-50A>C) | |
| 5 | g.69420409A>G | CA359925185 | MARVELD2 | c.1024A>G (p.Ile342Val) c.726-50A>G (n.726-50A>G) | |
| 5 | g.69420409A>T | CA359925186 | MARVELD2 | c.1024A>T (p.Ile342Leu) c.726-50A>T (n.726-50A>T) | |
| 5 | g.69420409_69420410insCT | CA1553917339 | MARVELD2 | c.1024_1025insCT (p.Ile342ThrfsTer2) c.726-50_726-49insCT (n.726-50_726-49insCT) | dbSNP |
| 5 | g.69420410T>A | CA359925188 | MARVELD2 | c.1025T>A (p.Ile342Lys) c.726-49T>A (n.726-49T>A) | |
| 5 | g.69420410T>C | CA359925189 | MARVELD2 | c.1025T>C (p.Ile342Thr) c.726-49T>C (n.726-49T>C) | |
| 5 | g.69420410T>G | CA359925190 | MARVELD2 | c.1025T>G (p.Ile342Arg) c.726-49T>G (n.726-49T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420410T= | CA1553917341 | MARVELD2 | c.1025T= (p.Ile342=) c.726-49T= (n.726-49T=) | |
| 5 | g.69420411A>C | CA445083879 | MARVELD2 | c.1026A>C (p.Ile342=) c.726-48A>C (n.726-48A>C) | |
| 5 | g.69420411A>G | CA359925191 | MARVELD2 | c.1026A>G (p.Ile342Met) c.726-48A>G (n.726-48A>G) | gnomAD v4 |
| 5 | g.69420411A>T | CA445083880 | MARVELD2 | c.1026A>T (p.Ile342=) c.726-48A>T (n.726-48A>T) | |
| 5 | g.69420412G>A | CA359925192 | MARVELD2 | c.1027G>A (p.Ala343Thr) c.726-47G>A (n.726-47G>A) | |
| 5 | g.69420412G>C | CA359925193 | MARVELD2 | c.1027G>C (p.Ala343Pro) c.726-47G>C (n.726-47G>C) | gnomAD v4 |
| 5 | g.69420412G>T | CA359925194 | MARVELD2 | c.1027G>T (p.Ala343Ser) c.726-47G>T (n.726-47G>T) | |
| 5 | g.69420413C>A | CA359925195 | MARVELD2 | c.1028C>A (p.Ala343Asp) c.726-46C>A (n.726-46C>A) | |
| 5 | g.69420413C= | CA1553917344 | MARVELD2 | c.1028C= (p.Ala343=) c.726-46C= (n.726-46C=) | |
| 5 | g.69420413C>G | CA359925196 | MARVELD2 | c.1028C>G (p.Ala343Gly) c.726-46C>G (n.726-46C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420413C>T | CA359925197 | MARVELD2 | c.1028C>T (p.Ala343Val) c.726-46C>T (n.726-46C>T) | |
| 5 | g.69420414T>A | CA445083885 | MARVELD2 | c.1029T>A (p.Ala343=) c.726-45T>A (n.726-45T>A) | dbSNP |
| 5 | g.69420414T>C | CA445083886 | MARVELD2 | c.1029T>C (p.Ala343=) c.726-45T>C (n.726-45T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420414T>G | CA445083887 | MARVELD2 | c.1029T>G (p.Ala343=) c.726-45T>G (n.726-45T>G) | |
| 5 | g.69420414T= | CA1553917346 | MARVELD2 | c.1029T= (p.Ala343=) c.726-45T= (n.726-45T=) | |
| 5 | g.69420415G>A | CA3294160 | MARVELD2 | c.1030G>A (p.Ala344Thr) c.726-44G>A (n.726-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420415G>C | CA359925199 | MARVELD2 | c.1030G>C (p.Ala344Pro) c.726-44G>C (n.726-44G>C) | |
| 5 | g.69420415G= | CA1553917349 | MARVELD2 | c.1030G= (p.Ala344=) c.726-44G= (n.726-44G=) | |
| 5 | g.69420415G>T | CA359925198 | MARVELD2 | c.1030G>T (p.Ala344Ser) c.726-44G>T (n.726-44G>T) | |
| 5 | g.69420416C>A | CA359925200 | MARVELD2 | c.1031C>A (p.Ala344Glu) c.726-43C>A (n.726-43C>A) | |
| 5 | g.69420416C>G | CA359925201 | MARVELD2 | c.1031C>G (p.Ala344Gly) c.726-43C>G (n.726-43C>G) | |
| 5 | g.69420416C>T | CA359925202 | MARVELD2 | c.1031C>T (p.Ala344Val) c.726-43C>T (n.726-43C>T) | |
| 5 | g.69420417A>C | CA445083891 | MARVELD2 | c.1032A>C (p.Ala344=) c.726-42A>C (n.726-42A>C) | |
| 5 | g.69420417A>G | CA445083893 | MARVELD2 | c.1032A>G (p.Ala344=) c.726-42A>G (n.726-42A>G) | |
| 5 | g.69420417A>T | CA445083894 | MARVELD2 | c.1032A>T (p.Ala344=) c.726-42A>T (n.726-42A>T) | |
| 5 | g.69420418A= | CA1553917353 | MARVELD2 | c.1033A= (p.Met345=) c.726-41A= (n.726-41A=) | |
| 5 | g.69420418A>C | CA359925203 | MARVELD2 | c.1033A>C (p.Met345Leu) c.726-41A>C (n.726-41A>C) | |
| 5 | g.69420418A>G | CA3294161 | MARVELD2 | c.1033A>G (p.Met345Val) c.726-41A>G (n.726-41A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420418A>T | CA359925204 | MARVELD2 | c.1033A>T (p.Met345Leu) c.726-41A>T (n.726-41A>T) | |
| 5 | g.69420419T>A | CA359925205 | MARVELD2 | c.1034T>A (p.Met345Lys) c.726-40T>A (n.726-40T>A) | |
| 5 | g.69420419T>C | CA359925206 | MARVELD2 | c.1034T>C (p.Met345Thr) c.726-40T>C (n.726-40T>C) | |
| 5 | g.69420419T>G | CA359925207 | MARVELD2 | c.1034T>G (p.Met345Arg) c.726-40T>G (n.726-40T>G) | |
| 5 | g.69420420G>A | CA359925208 | MARVELD2 | c.1035G>A (p.Met345Ile) c.726-39G>A (n.726-39G>A) | gnomAD v4 |
| 5 | g.69420420G>C | CA359925209 | MARVELD2 | c.1035G>C (p.Met345Ile) c.726-39G>C (n.726-39G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420420G= | CA1553917357 | MARVELD2 | c.1035G= (p.Met345=) c.726-39G= (n.726-39G=) | |
| 5 | g.69420420G>T | CA359925210 | MARVELD2 | c.1035G>T (p.Met345Ile) c.726-39G>T (n.726-39G>T) | |
| 5 | g.69420421A>C | CA359925212 | MARVELD2 | c.1036A>C (p.Ile346Leu) c.726-38A>C (n.726-38A>C) | |
| 5 | g.69420421A>G | CA359925213 | MARVELD2 | c.1036A>G (p.Ile346Val) c.726-38A>G (n.726-38A>G) | |
| 5 | g.69420421A>T | CA359925211 | MARVELD2 | c.1036A>T (p.Ile346Phe) c.726-38A>T (n.726-38A>T) | |
| 5 | g.69420422del | CA2506229905 | MARVELD2 | c.1037del (p.Ile346ThrfsTer7) c.726-37del (n.726-37del) | |
| 5 | g.69420422T>A | CA359925214 | MARVELD2 | c.1037T>A (p.Ile346Asn) c.726-37T>A (n.726-37T>A) | |
| 5 | g.69420422T>C | CA359925215 | MARVELD2 | c.1037T>C (p.Ile346Thr) c.726-37T>C (n.726-37T>C) | |
| 5 | g.69420422T>G | CA359925216 | MARVELD2 | c.1037T>G (p.Ile346Ser) c.726-37T>G (n.726-37T>G) | |
| 5 | g.69420423C>A | CA445083904 | MARVELD2 | c.1038C>A (p.Ile346=) c.726-36C>A (n.726-36C>A) | |
| 5 | g.69420423C>G | CA359925217 | MARVELD2 | c.1038C>G (p.Ile346Met) c.726-36C>G (n.726-36C>G) | |
| 5 | g.69420423C>T | CA445083907 | MARVELD2 | c.1038C>T (p.Ile346=) c.726-36C>T (n.726-36C>T) | |
| 5 | g.69420424T>A | CA359925220 | MARVELD2 | c.1039T>A (p.Phe347Ile) c.726-35T>A (n.726-35T>A) | |
| 5 | g.69420424T>C | CA359925219 | MARVELD2 | c.1039T>C (p.Phe347Leu) c.726-35T>C (n.726-35T>C) | |
| 5 | g.69420424T>G | CA359925218 | MARVELD2 | c.1039T>G (p.Phe347Val) c.726-35T>G (n.726-35T>G) | |
| 5 | g.69420425T>A | CA359925221 | MARVELD2 | c.1040T>A (p.Phe347Tyr) c.726-34T>A (n.726-34T>A) | |
| 5 | g.69420425T>C | CA359925223 | MARVELD2 | c.1040T>C (p.Phe347Ser) c.726-34T>C (n.726-34T>C) | COSMIC |
| 5 | g.69420425T>G | CA359925224 | MARVELD2 | c.1040T>G (p.Phe347Cys) c.726-34T>G (n.726-34T>G) | |
| 5 | g.69420426C>A | CA359925226 | MARVELD2 | c.1041C>A (p.Phe347Leu) c.726-33C>A (n.726-33C>A) | |
| 5 | g.69420426C>G | CA359925227 | MARVELD2 | c.1041C>G (p.Phe347Leu) c.726-33C>G (n.726-33C>G) | |
| 5 | g.69420426C>T | CA445083915 | MARVELD2 | c.1041C>T (p.Phe347=) c.726-33C>T (n.726-33C>T) | |
| 5 | g.69420427C>A | CA359925231 | MARVELD2 | c.1042C>A (p.Leu348Met) c.726-32C>A (n.726-32C>A) | |
| 5 | g.69420427C>G | CA359925232 | MARVELD2 | c.1042C>G (p.Leu348Val) c.726-32C>G (n.726-32C>G) | |
| 5 | g.69420427C>T | CA445083916 | MARVELD2 | c.1042C>T (p.Leu348=) c.726-32C>T (n.726-32C>T) | |
| 5 | g.69420428T>A | CA359925235 | MARVELD2 | c.1043T>A (p.Leu348Gln) c.726-31T>A (n.726-31T>A) | |
| 5 | g.69420428T>C | CA359925237 | MARVELD2 | c.1043T>C (p.Leu348Pro) c.726-31T>C (n.726-31T>C) | |
| 5 | g.69420428T>G | CA359925233 | MARVELD2 | c.1043T>G (p.Leu348Arg) c.726-31T>G (n.726-31T>G) | |
| 5 | g.69420429G>A | CA445083918 | MARVELD2 | c.1044G>A (p.Leu348=) c.726-30G>A (n.726-30G>A) | gnomAD v4 |
| 5 | g.69420429G>C | CA3294162 | MARVELD2 | c.1044G>C (p.Leu348=) c.726-30G>C (n.726-30G>C) | dbSNP ExAC gnomAD v2 |
| 5 | g.69420429G= | CA1553917360 | MARVELD2 | c.1044G= (p.Leu348=) c.726-30G= (n.726-30G=) | |
| 5 | g.69420429G>T | CA445083919 | MARVELD2 | c.1044G>T (p.Leu348=) c.726-30G>T (n.726-30G>T) | |
| 5 | g.69420430T>A | CA359925242 | MARVELD2 | c.1045T>A (p.Phe349Ile) c.726-29T>A (n.726-29T>A) | |
| 5 | g.69420430T>C | CA359925239 | MARVELD2 | c.1045T>C (p.Phe349Leu) c.726-29T>C (n.726-29T>C) | |
| 5 | g.69420430T>G | CA359925240 | MARVELD2 | c.1045T>G (p.Phe349Val) c.726-29T>G (n.726-29T>G) | |
| 5 | g.69420431T>A | CA359925243 | MARVELD2 | c.1046T>A (p.Phe349Tyr) c.726-28T>A (n.726-28T>A) | |
| 5 | g.69420431T>C | CA359925244 | MARVELD2 | c.1046T>C (p.Phe349Ser) c.726-28T>C (n.726-28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420431T>G | CA359925246 | MARVELD2 | c.1046T>G (p.Phe349Cys) c.726-28T>G (n.726-28T>G) | |
| 5 | g.69420431T= | CA1553917363 | MARVELD2 | c.1046T= (p.Phe349=) c.726-28T= (n.726-28T=) | |
| 5 | g.69420432T>A | CA359925247 | MARVELD2 | c.1047T>A (p.Phe349Leu) c.726-27T>A (n.726-27T>A) | |
| 5 | g.69420432T>C | CA445083927 | MARVELD2 | c.1047T>C (p.Phe349=) c.726-27T>C (n.726-27T>C) | |
| 5 | g.69420432T>G | CA359925249 | MARVELD2 | c.1047T>G (p.Phe349Leu) c.726-27T>G (n.726-27T>G) | |
| 5 | g.69420433G>A | CA359925254 | MARVELD2 | c.1048G>A (p.Val350Ile) c.726-26G>A (n.726-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420433G>C | CA359925251 | MARVELD2 | c.1048G>C (p.Val350Leu) c.726-26G>C (n.726-26G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420433G= | CA1553917365 | MARVELD2 | c.1048G= (p.Val350=) c.726-26G= (n.726-26G=) | |
| 5 | g.69420433G>T | CA359925253 | MARVELD2 | c.1048G>T (p.Val350Phe) c.726-26G>T (n.726-26G>T) | |
| 5 | g.69420434T>A | CA359925256 | MARVELD2 | c.1049T>A (p.Val350Asp) c.726-25T>A (n.726-25T>A) | |
| 5 | g.69420434T>C | CA10622116 | MARVELD2 | c.1049T>C (p.Val350Ala) c.726-25T>C (n.726-25T>C) | ClinVar dbSNP |
| 5 | g.69420434T>G | CA359925259 | MARVELD2 | c.1049T>G (p.Val350Gly) c.726-25T>G (n.726-25T>G) | |
| 5 | g.69420434T= | CA1553917370 | MARVELD2 | c.1049T= (p.Val350=) c.726-25T= (n.726-25T=) | |
| 5 | g.69420435C>A | CA445083928 | MARVELD2 | c.1050C>A (p.Val350=) c.726-24C>A (n.726-24C>A) | |
| 5 | g.69420435C= | CA1553917376 | MARVELD2 | c.1050C= (p.Val350=) c.726-24C= (n.726-24C=) | |
| 5 | g.69420435C>G | CA445083929 | MARVELD2 | c.1050C>G (p.Val350=) c.726-24C>G (n.726-24C>G) | dbSNP |
| 5 | g.69420435C>T | CA445083930 | MARVELD2 | c.1050C>T (p.Val350=) c.726-24C>T (n.726-24C>T) | gnomAD v4 |
| 5 | g.69420436A>C | CA359925261 | MARVELD2 | c.1051A>C (p.Thr351Pro) c.726-23A>C (n.726-23A>C) | |
| 5 | g.69420436A>G | CA359925263 | MARVELD2 | c.1051A>G (p.Thr351Ala) c.726-23A>G (n.726-23A>G) | |
| 5 | g.69420436A>T | CA359925264 | MARVELD2 | c.1051A>T (p.Thr351Ser) c.726-23A>T (n.726-23A>T) | |
| 5 | g.69420437C>A | CA359925265 | MARVELD2 | c.1052C>A (p.Thr351Asn) c.726-22C>A (n.726-22C>A) | |
| 5 | g.69420437C>G | CA359925268 | MARVELD2 | c.1052C>G (p.Thr351Ser) c.726-22C>G (n.726-22C>G) | |
| 5 | g.69420437C>T | CA359925266 | MARVELD2 | c.1052C>T (p.Thr351Ile) c.726-22C>T (n.726-22C>T) | |
| 5 | g.69420438C>A | CA445083938 | MARVELD2 | c.1053C>A (p.Thr351=) c.726-21C>A (n.726-21C>A) | |
| 5 | g.69420438C>G | CA445083939 | MARVELD2 | c.1053C>G (p.Thr351=) c.726-21C>G (n.726-21C>G) | |
| 5 | g.69420438C>T | CA445083940 | MARVELD2 | c.1053C>T (p.Thr351=) c.726-21C>T (n.726-21C>T) | |
| 5 | g.69420439A>C | CA359925269 | MARVELD2 | c.1054A>C (p.Met352Leu) c.726-20A>C (n.726-20A>C) | |
| 5 | g.69420439A>G | CA359925271 | MARVELD2 | c.1054A>G (p.Met352Val) c.726-20A>G (n.726-20A>G) | gnomAD v4 |
| 5 | g.69420439A>T | CA359925272 | MARVELD2 | c.1054A>T (p.Met352Leu) c.726-20A>T (n.726-20A>T) | |
| 5 | g.69420440T>A | CA359925273 | MARVELD2 | c.1055T>A (p.Met352Lys) c.726-19T>A (n.726-19T>A) | |
| 5 | g.69420440T>C | CA359925275 | MARVELD2 | c.1055T>C (p.Met352Thr) c.726-19T>C (n.726-19T>C) | COSMIC |
| 5 | g.69420440T>G | CA359925277 | MARVELD2 | c.1055T>G (p.Met352Arg) c.726-19T>G (n.726-19T>G) | |
| 5 | g.69420441G>A | CA359925279 | MARVELD2 | c.1056G>A (p.Met352Ile) c.726-18G>A (n.726-18G>A) | gnomAD v4 |
| 5 | g.69420441G>C | CA359925281 | MARVELD2 | c.1056G>C (p.Met352Ile) c.726-18G>C (n.726-18G>C) | |
| 5 | g.69420441G>T | CA359925283 | MARVELD2 | c.1056G>T (p.Met352Ile) c.726-18G>T (n.726-18G>T) | |
| 5 | g.69420442A= | CA1553917378 | MARVELD2 | c.1057A= (p.Ile353=) c.726-17A= (n.726-17A=) | |
| 5 | g.69420442A>C | CA359925285 | MARVELD2 | c.1057A>C (p.Ile353Leu) c.726-17A>C (n.726-17A>C) | |
| 5 | g.69420442A>G | CA359925286 | MARVELD2 | c.1057A>G (p.Ile353Val) c.726-17A>G (n.726-17A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420442A>T | CA359925288 | MARVELD2 | c.1057A>T (p.Ile353Leu) c.726-17A>T (n.726-17A>T) | |
| 5 | g.69420443T>A | CA359925291 | MARVELD2 | c.1058T>A (p.Ile353Lys) c.726-16T>A (n.726-16T>A) | |
| 5 | g.69420443T>C | CA359925295 | MARVELD2 | c.1058T>C (p.Ile353Thr) c.726-16T>C (n.726-16T>C) | |
| 5 | g.69420443T>G | CA359925293 | MARVELD2 | c.1058T>G (p.Ile353Arg) c.726-16T>G (n.726-16T>G) | dbSNP |
| 5 | g.69420443T= | CA1553917380 | MARVELD2 | c.1058T= (p.Ile353=) c.726-16T= (n.726-16T=) | |
| 5 | g.69420443dup | CA2674131670 | MARVELD2 | c.1058dup (p.Val354SerfsTer5) c.726-16dup (n.726-16dup) | dbSNP gnomAD v4 |
| 5 | g.69420444A= | CA1553917385 | MARVELD2 | c.1059A= (p.Ile353=) c.726-15A= (n.726-15A=) | |
| 5 | g.69420444A>C | CA445083949 | MARVELD2 | c.1059A>C (p.Ile353=) c.726-15A>C (n.726-15A>C) | |
| 5 | g.69420444A>G | CA176720 | MARVELD2 | c.1059A>G (p.Ile353Met) c.726-15A>G (n.726-15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420444A>T | CA445083953 | MARVELD2 | c.1059A>T (p.Ile353=) c.726-15A>T (n.726-15A>T) | |
| 5 | g.69420445G>A | CA359925297 | MARVELD2 | c.1060G>A (p.Val354Ile) c.726-14G>A (n.726-14G>A) | |
| 5 | g.69420445G>C | CA359925299 | MARVELD2 | c.1060G>C (p.Val354Leu) c.726-14G>C (n.726-14G>C) | |
| 5 | g.69420445G>T | CA359925300 | MARVELD2 | c.1060G>T (p.Val354Phe) c.726-14G>T (n.726-14G>T) | |
| 5 | g.69420446T>A | CA359925302 | MARVELD2 | c.1061T>A (p.Val354Asp) c.726-13T>A (n.726-13T>A) | gnomAD v4 |
| 5 | g.69420446T>C | CA359925304 | MARVELD2 | c.1061T>C (p.Val354Ala) c.726-13T>C (n.726-13T>C) | dbSNP |
| 5 | g.69420446T>G | CA359925305 | MARVELD2 | c.1061T>G (p.Val354Gly) c.726-13T>G (n.726-13T>G) | |
| 5 | g.69420446T= | CA1553917391 | MARVELD2 | c.1061T= (p.Val354=) c.726-13T= (n.726-13T=) | |
| 5 | g.69420447T>A | CA445083960 | MARVELD2 | c.1062T>A (p.Val354=) c.726-12T>A (n.726-12T>A) | |
| 5 | g.69420447T>C | CA445083959 | MARVELD2 | c.1062T>C (p.Val354=) c.726-12T>C (n.726-12T>C) | |
| 5 | g.69420447T>G | CA445083961 | MARVELD2 | c.1062T>G (p.Val354=) c.726-12T>G (n.726-12T>G) | dbSNP |
| 5 | g.69420448T>A | CA359925307 | MARVELD2 | c.1063T>A (p.Tyr355Asn) c.726-11T>A (n.726-11T>A) | |
| 5 | g.69420448T>C | CA359925309 | MARVELD2 | c.1063T>C (p.Tyr355His) c.726-11T>C (n.726-11T>C) | |
| 5 | g.69420448T>G | CA359925310 | MARVELD2 | c.1063T>G (p.Tyr355Asp) c.726-11T>G (n.726-11T>G) | gnomAD v4 |
| 5 | g.69420449A>C | CA359925311 | MARVELD2 | c.1064A>C (p.Tyr355Ser) c.726-10A>C (n.726-10A>C) | |
| 5 | g.69420449A>G | CA359925312 | MARVELD2 | c.1064A>G (p.Tyr355Cys) c.726-10A>G (n.726-10A>G) | |
| 5 | g.69420449A>T | CA359925313 | MARVELD2 | c.1064A>T (p.Tyr355Phe) c.726-10A>T (n.726-10A>T) | gnomAD v4 |
| 5 | g.69420450T>A | CA359925316 | MARVELD2 | c.1065T>A (p.Tyr355Ter) c.726-9T>A (n.726-9T>A) | |
| 5 | g.69420450T>C | CA445083968 | MARVELD2 | c.1065T>C (p.Tyr355=) c.726-9T>C (n.726-9T>C) | |
| 5 | g.69420450T>G | CA359925315 | MARVELD2 | c.1065T>G (p.Tyr355Ter) c.726-9T>G (n.726-9T>G) | |
| 5 | g.69420451C>A | CA359925319 | MARVELD2 | c.1066C>A (p.Leu356Ile) c.726-8C>A (n.726-8C>A) | |
| 5 | g.69420451C>G | CA359925320 | MARVELD2 | c.1066C>G (p.Leu356Val) c.726-8C>G (n.726-8C>G) | |
| 5 | g.69420451C>T | CA359925322 | MARVELD2 | c.1066C>T (p.Leu356Phe) c.726-8C>T (n.726-8C>T) | COSMIC |
| 5 | g.69420452T>A | CA359925323 | MARVELD2 | c.1067T>A (p.Leu356His) c.726-7T>A (n.726-7T>A) | |
| 5 | g.69420452T>C | CA359925324 | MARVELD2 | c.1067T>C (p.Leu356Pro) c.726-7T>C (n.726-7T>C) | |
| 5 | g.69420452T>G | CA359925325 | MARVELD2 | c.1067T>G (p.Leu356Arg) c.726-7T>G (n.726-7T>G) | |
| 5 | g.69420453C>A | CA445083972 | MARVELD2 | c.1068C>A (p.Leu356=) c.726-6C>A (n.726-6C>A) | |
| 5 | g.69420453C>G | CA445083973 | MARVELD2 | c.1068C>G (p.Leu356=) c.726-6C>G (n.726-6C>G) | |
| 5 | g.69420453C>T | CA445083974 | MARVELD2 | c.1068C>T (p.Leu356=) c.726-6C>T (n.726-6C>T) | gnomAD v4 |
| 5 | g.69420454A>C | CA359925327 | MARVELD2 | c.1069A>C (p.Ile357Leu) c.726-5A>C (n.726-5A>C) | gnomAD v4 |
| 5 | g.69420454A>G | CA359925329 | MARVELD2 | c.1069A>G (p.Ile357Val) c.726-5A>G (n.726-5A>G) | gnomAD v4 |
| 5 | g.69420454A>T | CA359925330 | MARVELD2 | c.1069A>T (p.Ile357Phe) c.726-5A>T (n.726-5A>T) | |
| 5 | g.69420455T>A | CA359925332 | MARVELD2 | c.1070T>A (p.Ile357Asn) c.726-4T>A (n.726-4T>A) | |
| 5 | g.69420455T>C | CA359925334 | MARVELD2 | c.1070T>C (p.Ile357Thr) c.726-4T>C (n.726-4T>C) | dbSNP gnomAD v4 |
| 5 | g.69420455T>G | CA359925336 | MARVELD2 | c.1070T>G (p.Ile357Ser) c.726-4T>G (n.726-4T>G) | |
| 5 | g.69420455T= | CA1553917394 | MARVELD2 | c.1070T= (p.Ile357=) c.726-4T= (n.726-4T=) | |
| 5 | g.69420456T>A | CA445083975 | MARVELD2 | c.1071T>A (p.Ile357=) c.726-3T>A (n.726-3T>A) | |
| 5 | g.69420456T>C | CA445083976 | MARVELD2 | c.1071T>C (p.Ile357=) c.726-3T>C (n.726-3T>C) | COSMIC |
| 5 | g.69420456T>G | CA359925338 | MARVELD2 | c.1071T>G (p.Ile357Met) c.726-3T>G (n.726-3T>G) |