| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420309C>A | CA445083595 | MARVELD2 | c.924C>A (p.Ala308=) c.726-150C>A (n.726-150C>A) | |
| 5 | g.69420309C= | CA1553917195 | MARVELD2 | c.924C= (p.Ala308=) c.726-150C= (n.726-150C=) | |
| 5 | g.69420309C>G | CA3294141 | MARVELD2 | c.924C>G (p.Ala308=) c.726-150C>G (n.726-150C>G) | dbSNP ExAC |
| 5 | g.69420309C>T | CA445083601 | MARVELD2 | c.924C>T (p.Ala308=) c.726-150C>T (n.726-150C>T) | |
| 5 | g.69420310A= | CA1553917197 | MARVELD2 | c.925A= (p.Ile309=) c.726-149A= (n.726-149A=) | |
| 5 | g.69420310A>C | CA359924982 | MARVELD2 | c.925A>C (p.Ile309Leu) c.726-149A>C (n.726-149A>C) | |
| 5 | g.69420310A>G | CA359924981 | MARVELD2 | c.925A>G (p.Ile309Val) c.726-149A>G (n.726-149A>G) | dbSNP gnomAD v4 |
| 5 | g.69420310A>T | CA359924980 | MARVELD2 | c.925A>T (p.Ile309Leu) c.726-149A>T (n.726-149A>T) | |
| 5 | g.69420311T>A | CA359924983 | MARVELD2 | c.926T>A (p.Ile309Lys) c.726-148T>A (n.726-148T>A) | |
| 5 | g.69420311T>C | CA359924984 | MARVELD2 | c.926T>C (p.Ile309Thr) c.726-148T>C (n.726-148T>C) | |
| 5 | g.69420311T>G | CA359924985 | MARVELD2 | c.926T>G (p.Ile309Arg) c.726-148T>G (n.726-148T>G) | |
| 5 | g.69420312A= | CA1553917199 | MARVELD2 | c.927A= (p.Ile309=) c.726-147A= (n.726-147A=) | |
| 5 | g.69420312A>C | CA445083607 | MARVELD2 | c.927A>C (p.Ile309=) c.726-147A>C (n.726-147A>C) | dbSNP |
| 5 | g.69420312A>G | CA359924986 | MARVELD2 | c.927A>G (p.Ile309Met) c.726-147A>G (n.726-147A>G) | |
| 5 | g.69420312A>T | CA445083611 | MARVELD2 | c.927A>T (p.Ile309=) c.726-147A>T (n.726-147A>T) | |
| 5 | g.69420313G>A | CA359924987 | MARVELD2 | c.928G>A (p.Val310Ile) c.726-146G>A (n.726-146G>A) | |
| 5 | g.69420313G>C | CA359924988 | MARVELD2 | c.928G>C (p.Val310Leu) c.726-146G>C (n.726-146G>C) | |
| 5 | g.69420313G>T | CA359924989 | MARVELD2 | c.928G>T (p.Val310Phe) c.726-146G>T (n.726-146G>T) | |
| 5 | g.69420314T>A | CA359924990 | MARVELD2 | c.929T>A (p.Val310Asp) c.726-145T>A (n.726-145T>A) | |
| 5 | g.69420314T>C | CA359924991 | MARVELD2 | c.929T>C (p.Val310Ala) c.726-145T>C (n.726-145T>C) | gnomAD v4 |
| 5 | g.69420314T>G | CA359924992 | MARVELD2 | c.929T>G (p.Val310Gly) c.726-145T>G (n.726-145T>G) | |
| 5 | g.69420315C>A | CA445083619 | MARVELD2 | c.930C>A (p.Val310=) c.726-144C>A (n.726-144C>A) | |
| 5 | g.69420315C>G | CA445083620 | MARVELD2 | c.930C>G (p.Val310=) c.726-144C>G (n.726-144C>G) | gnomAD v4 |
| 5 | g.69420315C>T | CA445083623 | MARVELD2 | c.930C>T (p.Val310=) c.726-144C>T (n.726-144C>T) | gnomAD v4 |
| 5 | g.69420316T>A | CA359924993 | MARVELD2 | c.931T>A (p.Tyr311Asn) c.726-143T>A (n.726-143T>A) | |
| 5 | g.69420316T>C | CA359924994 | MARVELD2 | c.931T>C (p.Tyr311His) c.726-143T>C (n.726-143T>C) | |
| 5 | g.69420316T>G | CA359924995 | MARVELD2 | c.931T>G (p.Tyr311Asp) c.726-143T>G (n.726-143T>G) | |
| 5 | g.69420317A= | CA1553917202 | MARVELD2 | c.932A= (p.Tyr311=) c.726-142A= (n.726-142A=) | |
| 5 | g.69420317A>C | CA359924997 | MARVELD2 | c.932A>C (p.Tyr311Ser) c.726-142A>C (n.726-142A>C) | |
| 5 | g.69420317A>G | CA119992341 | MARVELD2 | c.932A>G (p.Tyr311Cys) c.726-142A>G (n.726-142A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420317A>T | CA359924996 | MARVELD2 | c.932A>T (p.Tyr311Phe) c.726-142A>T (n.726-142A>T) | |
| 5 | g.69420318T>A | CA359924999 | MARVELD2 | c.933T>A (p.Tyr311Ter) c.726-141T>A (n.726-141T>A) | |
| 5 | g.69420318T>C | CA445083624 | MARVELD2 | c.933T>C (p.Tyr311=) c.726-141T>C (n.726-141T>C) | ClinVar dbSNP |
| 5 | g.69420318T>G | CA359924998 | MARVELD2 | c.933T>G (p.Tyr311Ter) c.726-141T>G (n.726-141T>G) | |
| 5 | g.69420318T= | CA1553917205 | MARVELD2 | c.933T= (p.Tyr311=) c.726-141T= (n.726-141T=) | |
| 5 | g.69420320_69420321del | CA645551529 | MARVELD2 | c.935_936del (p.Val312GlufsTer2) c.726-139_726-138del (n.726-139_726-138del) | COSMIC |
| 5 | g.69420319G>A | CA359925001 | MARVELD2 | c.934G>A (p.Val312Met) c.726-140G>A (n.726-140G>A) | |
| 5 | g.69420319G>C | CA359925000 | MARVELD2 | c.934G>C (p.Val312Leu) c.726-140G>C (n.726-140G>C) | |
| 5 | g.69420319G>T | CA359925002 | MARVELD2 | c.934G>T (p.Val312Leu) c.726-140G>T (n.726-140G>T) | |
| 5 | g.69420320T>A | CA359925003 | MARVELD2 | c.935T>A (p.Val312Glu) c.726-139T>A (n.726-139T>A) | |
| 5 | g.69420320T>C | CA359925004 | MARVELD2 | c.935T>C (p.Val312Ala) c.726-139T>C (n.726-139T>C) | |
| 5 | g.69420320T>G | CA359925005 | MARVELD2 | c.935T>G (p.Val312Gly) c.726-139T>G (n.726-139T>G) | |
| 5 | g.69420321G>A | CA445083635 | MARVELD2 | c.936G>A (p.Val312=) c.726-138G>A (n.726-138G>A) | |
| 5 | g.69420321G>C | CA445083637 | MARVELD2 | c.936G>C (p.Val312=) c.726-138G>C (n.726-138G>C) | |
| 5 | g.69420321G= | CA1553917209 | MARVELD2 | c.936G= (p.Val312=) c.726-138G= (n.726-138G=) | |
| 5 | g.69420321G>T | CA445083638 | MARVELD2 | c.936G>T (p.Val312=) c.726-138G>T (n.726-138G>T) | dbSNP gnomAD v4 |
| 5 | g.69420322A= | CA1553917211 | MARVELD2 | c.937A= (p.Asn313=) c.726-137A= (n.726-137A=) | |
| 5 | g.69420322A>C | CA359925006 | MARVELD2 | c.937A>C (p.Asn313His) c.726-137A>C (n.726-137A>C) | |
| 5 | g.69420322A>G | CA3294142 | MARVELD2 | c.937A>G (p.Asn313Asp) c.726-137A>G (n.726-137A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69420322A>T | CA359925007 | MARVELD2 | c.937A>T (p.Asn313Tyr) c.726-137A>T (n.726-137A>T) | |
| 5 | g.69420323A= | CA1553917212 | MARVELD2 | c.938A= (p.Asn313=) c.726-136A= (n.726-136A=) | |
| 5 | g.69420323A>C | CA359925008 | MARVELD2 | c.938A>C (p.Asn313Thr) c.726-136A>C (n.726-136A>C) | |
| 5 | g.69420323A>G | CA119992353 | MARVELD2 | c.938A>G (p.Asn313Ser) c.726-136A>G (n.726-136A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420323A>T | CA359925009 | MARVELD2 | c.938A>T (p.Asn313Ile) c.726-136A>T (n.726-136A>T) | |
| 5 | g.69420324T>A | CA359925010 | MARVELD2 | c.939T>A (p.Asn313Lys) c.726-135T>A (n.726-135T>A) | |
| 5 | g.69420324T>C | CA445083649 | MARVELD2 | c.939T>C (p.Asn313=) c.726-135T>C (n.726-135T>C) | |
| 5 | g.69420324T>G | CA359925011 | MARVELD2 | c.939T>G (p.Asn313Lys) c.726-135T>G (n.726-135T>G) | |
| 5 | g.69420325G>A | CA359925014 | MARVELD2 | c.940G>A (p.Asp314Asn) c.726-134G>A (n.726-134G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420325G>C | CA359925012 | MARVELD2 | c.940G>C (p.Asp314His) c.726-134G>C (n.726-134G>C) | |
| 5 | g.69420325G= | CA1553917216 | MARVELD2 | c.940G= (p.Asp314=) c.726-134G= (n.726-134G=) | |
| 5 | g.69420325G>T | CA359925013 | MARVELD2 | c.940G>T (p.Asp314Tyr) c.726-134G>T (n.726-134G>T) | |
| 5 | g.69420326A= | CA1553917219 | MARVELD2 | c.941A= (p.Asp314=) c.726-133A= (n.726-133A=) | |
| 5 | g.69420326A>C | CA359925015 | MARVELD2 | c.941A>C (p.Asp314Ala) c.726-133A>C (n.726-133A>C) | |
| 5 | g.69420326A>G | CA359925016 | MARVELD2 | c.941A>G (p.Asp314Gly) c.726-133A>G (n.726-133A>G) | dbSNP gnomAD v4 |
| 5 | g.69420326A>T | CA359925017 | MARVELD2 | c.941A>T (p.Asp314Val) c.726-133A>T (n.726-133A>T) | gnomAD v4 |
| 5 | g.69420327T>A | CA359925018 | MARVELD2 | c.942T>A (p.Asp314Glu) c.726-132T>A (n.726-132T>A) | |
| 5 | g.69420327T>C | CA445083664 | MARVELD2 | c.942T>C (p.Asp314=) c.726-132T>C (n.726-132T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420327T>G | CA359925019 | MARVELD2 | c.942T>G (p.Asp314Glu) c.726-132T>G (n.726-132T>G) | |
| 5 | g.69420327T= | CA1553917222 | MARVELD2 | c.942T= (p.Asp314=) c.726-132T= (n.726-132T=) | |
| 5 | g.69420328A>C | CA359925020 | MARVELD2 | c.943A>C (p.Thr315Pro) c.726-131A>C (n.726-131A>C) | |
| 5 | g.69420328A>G | CA359925021 | MARVELD2 | c.943A>G (p.Thr315Ala) c.726-131A>G (n.726-131A>G) | |
| 5 | g.69420328A>T | CA359925022 | MARVELD2 | c.943A>T (p.Thr315Ser) c.726-131A>T (n.726-131A>T) | |
| 5 | g.69420329C>A | CA359925023 | MARVELD2 | c.944C>A (p.Thr315Asn) c.726-130C>A (n.726-130C>A) | |
| 5 | g.69420329C= | CA1553917224 | MARVELD2 | c.944C= (p.Thr315=) c.726-130C= (n.726-130C=) | |
| 5 | g.69420329C>G | CA359925024 | MARVELD2 | c.944C>G (p.Thr315Ser) c.726-130C>G (n.726-130C>G) | gnomAD v4 |
| 5 | g.69420329C>T | CA3294143 | MARVELD2 | c.944C>T (p.Thr315Ile) c.726-130C>T (n.726-130C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420330C>A | CA445083676 | MARVELD2 | c.945C>A (p.Thr315=) c.726-129C>A (n.726-129C>A) | |
| 5 | g.69420330C>G | CA445083675 | MARVELD2 | c.945C>G (p.Thr315=) c.726-129C>G (n.726-129C>G) | |
| 5 | g.69420330C>T | CA445083673 | MARVELD2 | c.945C>T (p.Thr315=) c.726-129C>T (n.726-129C>T) | |
| 5 | g.69420331A>C | CA359925026 | MARVELD2 | c.946A>C (p.Asn316His) c.726-128A>C (n.726-128A>C) | gnomAD v4 |
| 5 | g.69420331A>G | CA359925027 | MARVELD2 | c.946A>G (p.Asn316Asp) c.726-128A>G (n.726-128A>G) | |
| 5 | g.69420331A>T | CA359925025 | MARVELD2 | c.946A>T (p.Asn316Tyr) c.726-128A>T (n.726-128A>T) | |
| 5 | g.69420332A>C | CA359925028 | MARVELD2 | c.947A>C (p.Asn316Thr) c.726-127A>C (n.726-127A>C) | |
| 5 | g.69420332A>G | CA359925029 | MARVELD2 | c.947A>G (p.Asn316Ser) c.726-127A>G (n.726-127A>G) | |
| 5 | g.69420332A>T | CA359925030 | MARVELD2 | c.947A>T (p.Asn316Ile) c.726-127A>T (n.726-127A>T) | |
| 5 | g.69420333C>A | CA359925031 | MARVELD2 | c.948C>A (p.Asn316Lys) c.726-126C>A (n.726-126C>A) | |
| 5 | g.69420333C= | CA1553917228 | MARVELD2 | c.948C= (p.Asn316=) c.726-126C= (n.726-126C=) | |
| 5 | g.69420333C>G | CA359925032 | MARVELD2 | c.948C>G (p.Asn316Lys) c.726-126C>G (n.726-126C>G) | |
| 5 | g.69420333C>T | CA445083687 | MARVELD2 | c.948C>T (p.Asn316=) c.726-126C>T (n.726-126C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420334C>A | CA445083690 | MARVELD2 | c.949C>A (p.Arg317=) c.726-125C>A (n.726-125C>A) | dbSNP gnomAD v4 |
| 5 | g.69420334C= | CA1553917231 | MARVELD2 | c.949C= (p.Arg317=) c.726-125C= (n.726-125C=) | |
| 5 | g.69420334C>G | CA3294145 | MARVELD2 | c.949C>G (p.Arg317Gly) c.726-125C>G (n.726-125C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420334C>T | CA3294144 | MARVELD2 | c.949C>T (p.Arg317Ter) c.726-125C>T (n.726-125C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420335G>A | CA3294146 | MARVELD2 | c.950G>A (p.Arg317Gln) c.726-124G>A (n.726-124G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420335G>C | CA119992366 | MARVELD2 | c.950G>C (p.Arg317Pro) c.726-124G>C (n.726-124G>C) | dbSNP |
| 5 | g.69420335G= | CA1553917237 | MARVELD2 | c.950G= (p.Arg317=) c.726-124G= (n.726-124G=) | |
| 5 | g.69420335G>T | CA359925033 | MARVELD2 | c.950G>T (p.Arg317Leu) c.726-124G>T (n.726-124G>T) | |
| 5 | g.69420336A>C | CA445083699 | MARVELD2 | c.951A>C (p.Arg317=) c.726-123A>C (n.726-123A>C) | |
| 5 | g.69420336A>G | CA445083700 | MARVELD2 | c.951A>G (p.Arg317=) c.726-123A>G (n.726-123A>G) | |
| 5 | g.69420336A>T | CA445083701 | MARVELD2 | c.951A>T (p.Arg317=) c.726-123A>T (n.726-123A>T) | |
| 5 | g.69420337G>A | CA359925034 | MARVELD2 | c.952G>A (p.Gly318Ser) c.726-122G>A (n.726-122G>A) | |
| 5 | g.69420337G>C | CA3294147 | MARVELD2 | c.952G>C (p.Gly318Arg) c.726-122G>C (n.726-122G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420337G= | CA1553917243 | MARVELD2 | c.952G= (p.Gly318=) c.726-122G= (n.726-122G=) | |
| 5 | g.69420337G>T | CA359925035 | MARVELD2 | c.952G>T (p.Gly318Cys) c.726-122G>T (n.726-122G>T) | |
| 5 | g.69420338G>A | CA359925038 | MARVELD2 | c.953G>A (p.Gly318Asp) c.726-121G>A (n.726-121G>A) | |
| 5 | g.69420338G>C | CA359925037 | MARVELD2 | c.953G>C (p.Gly318Ala) c.726-121G>C (n.726-121G>C) | |
| 5 | g.69420338G>T | CA359925036 | MARVELD2 | c.953G>T (p.Gly318Val) c.726-121G>T (n.726-121G>T) | gnomAD v4 |
| 5 | g.69420339T>A | CA445083710 | MARVELD2 | c.954T>A (p.Gly318=) c.726-120T>A (n.726-120T>A) | |
| 5 | g.69420339T>C | CA445083711 | MARVELD2 | c.954T>C (p.Gly318=) c.726-120T>C (n.726-120T>C) | |
| 5 | g.69420339T>G | CA445083713 | MARVELD2 | c.954T>G (p.Gly318=) c.726-120T>G (n.726-120T>G) | |
| 5 | g.69420340G>A | CA359925039 | MARVELD2 | c.955G>A (p.Gly319Ser) c.726-119G>A (n.726-119G>A) | dbSNP gnomAD v4 |
| 5 | g.69420340G>C | CA359925040 | MARVELD2 | c.955G>C (p.Gly319Arg) c.726-119G>C (n.726-119G>C) | |
| 5 | g.69420340G= | CA1553917248 | MARVELD2 | c.955G= (p.Gly319=) c.726-119G= (n.726-119G=) | |
| 5 | g.69420340G>T | CA359925041 | MARVELD2 | c.955G>T (p.Gly319Cys) c.726-119G>T (n.726-119G>T) | |
| 5 | g.69420341G>A | CA359925042 | MARVELD2 | c.956G>A (p.Gly319Asp) c.726-118G>A (n.726-118G>A) | dbSNP gnomAD v4 |
| 5 | g.69420341G>C | CA359925043 | MARVELD2 | c.956G>C (p.Gly319Ala) c.726-118G>C (n.726-118G>C) | |
| 5 | g.69420341G= | CA1553917251 | MARVELD2 | c.956G= (p.Gly319=) c.726-118G= (n.726-118G=) | |
| 5 | g.69420341G>T | CA359925044 | MARVELD2 | c.956G>T (p.Gly319Val) c.726-118G>T (n.726-118G>T) | |
| 5 | g.69420342C>A | CA445083714 | MARVELD2 | c.957C>A (p.Gly319=) c.726-117C>A (n.726-117C>A) | |
| 5 | g.69420342C= | CA1553917252 | MARVELD2 | c.957C= (p.Gly319=) c.726-117C= (n.726-117C=) | |
| 5 | g.69420342C>G | CA445083715 | MARVELD2 | c.957C>G (p.Gly319=) c.726-117C>G (n.726-117C>G) | |
| 5 | g.69420342C>T | CA445083716 | MARVELD2 | c.957C>T (p.Gly319=) c.726-117C>T (n.726-117C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420343C>A | CA359925045 | MARVELD2 | c.958C>A (p.Leu320Ile) c.726-116C>A (n.726-116C>A) | |
| 5 | g.69420343C= | CA1553917255 | MARVELD2 | c.958C= (p.Leu320=) c.726-116C= (n.726-116C=) | |
| 5 | g.69420343C>G | CA3294148 | MARVELD2 | c.958C>G (p.Leu320Val) c.726-116C>G (n.726-116C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420343C>T | CA359925046 | MARVELD2 | c.958C>T (p.Leu320Phe) c.726-116C>T (n.726-116C>T) | gnomAD v4 |
| 5 | g.69420344T>A | CA359925047 | MARVELD2 | c.959T>A (p.Leu320His) c.726-115T>A (n.726-115T>A) | |
| 5 | g.69420344T>C | CA359925048 | MARVELD2 | c.959T>C (p.Leu320Pro) c.726-115T>C (n.726-115T>C) | |
| 5 | g.69420344T>G | CA359925049 | MARVELD2 | c.959T>G (p.Leu320Arg) c.726-115T>G (n.726-115T>G) | |
| 5 | g.69420345C>A | CA445083725 | MARVELD2 | c.960C>A (p.Leu320=) c.726-114C>A (n.726-114C>A) | |
| 5 | g.69420345C= | CA1553917257 | MARVELD2 | c.960C= (p.Leu320=) c.726-114C= (n.726-114C=) | |
| 5 | g.69420345C>G | CA3294149 | MARVELD2 | c.960C>G (p.Leu320=) c.726-114C>G (n.726-114C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420345C>T | CA445083727 | MARVELD2 | c.960C>T (p.Leu320=) c.726-114C>T (n.726-114C>T) | gnomAD v4 |
| 5 | g.69420346T>A | CA359925052 | MARVELD2 | c.961T>A (p.Cys321Ser) c.726-113T>A (n.726-113T>A) | gnomAD v4 |
| 5 | g.69420346T>C | CA359925051 | MARVELD2 | c.961T>C (p.Cys321Arg) c.726-113T>C (n.726-113T>C) | |
| 5 | g.69420346T>G | CA359925050 | MARVELD2 | c.961T>G (p.Cys321Gly) c.726-113T>G (n.726-113T>G) | |
| 5 | g.69420347G>A | CA359925054 | MARVELD2 | c.962G>A (p.Cys321Tyr) c.726-112G>A (n.726-112G>A) | |
| 5 | g.69420347G>C | CA359925053 | MARVELD2 | c.962G>C (p.Cys321Ser) c.726-112G>C (n.726-112G>C) | |
| 5 | g.69420347G>T | CA359925055 | MARVELD2 | c.962G>T (p.Cys321Phe) c.726-112G>T (n.726-112G>T) | |
| 5 | g.69420348C>A | CA359925056 | MARVELD2 | c.963C>A (p.Cys321Ter) c.726-111C>A (n.726-111C>A) | gnomAD v4 |
| 5 | g.69420348C>G | CA359925057 | MARVELD2 | c.963C>G (p.Cys321Trp) c.726-111C>G (n.726-111C>G) | |
| 5 | g.69420348C>T | CA445083732 | MARVELD2 | c.963C>T (p.Cys321=) c.726-111C>T (n.726-111C>T) | |
| 5 | g.69420349T>A | CA359925058 | MARVELD2 | c.964T>A (p.Tyr322Asn) c.726-110T>A (n.726-110T>A) | |
| 5 | g.69420349T>C | CA359925059 | MARVELD2 | c.964T>C (p.Tyr322His) c.726-110T>C (n.726-110T>C) | gnomAD v4 |
| 5 | g.69420349T>G | CA359925060 | MARVELD2 | c.964T>G (p.Tyr322Asp) c.726-110T>G (n.726-110T>G) | |
| 5 | g.69420350A= | CA1553917261 | MARVELD2 | c.965A= (p.Tyr322=) c.726-109A= (n.726-109A=) | |
| 5 | g.69420350A>C | CA359925061 | MARVELD2 | c.965A>C (p.Tyr322Ser) c.726-109A>C (n.726-109A>C) | |
| 5 | g.69420350A>G | CA359925062 | MARVELD2 | c.965A>G (p.Tyr322Cys) c.726-109A>G (n.726-109A>G) | dbSNP gnomAD v4 |
| 5 | g.69420350A>T | CA359925063 | MARVELD2 | c.965A>T (p.Tyr322Phe) c.726-109A>T (n.726-109A>T) | |
| 5 | g.69420351C>A | CA359925064 | MARVELD2 | c.966C>A (p.Tyr322Ter) c.726-108C>A (n.726-108C>A) | |
| 5 | g.69420351C= | CA1553917262 | MARVELD2 | c.966C= (p.Tyr322=) c.726-108C= (n.726-108C=) | |
| 5 | g.69420351C>G | CA359925065 | MARVELD2 | c.966C>G (p.Tyr322Ter) c.726-108C>G (n.726-108C>G) | |
| 5 | g.69420351C>T | CA445083743 | MARVELD2 | c.966C>T (p.Tyr322=) c.726-108C>T (n.726-108C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420352T>A | CA359925066 | MARVELD2 | c.967T>A (p.Tyr323Asn) c.726-107T>A (n.726-107T>A) | |
| 5 | g.69420352T>C | CA359925067 | MARVELD2 | c.967T>C (p.Tyr323His) c.726-107T>C (n.726-107T>C) | gnomAD v4 |
| 5 | g.69420352T>G | CA359925068 | MARVELD2 | c.967T>G (p.Tyr323Asp) c.726-107T>G (n.726-107T>G) | |
| 5 | g.69420353A= | CA1553917265 | MARVELD2 | c.968A= (p.Tyr323=) c.726-106A= (n.726-106A=) | |
| 5 | g.69420353A>C | CA359925069 | MARVELD2 | c.968A>C (p.Tyr323Ser) c.726-106A>C (n.726-106A>C) | COSMIC |
| 5 | g.69420353A>G | CA3294150 | MARVELD2 | c.968A>G (p.Tyr323Cys) c.726-106A>G (n.726-106A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420353A>T | CA359925070 | MARVELD2 | c.968A>T (p.Tyr323Phe) c.726-106A>T (n.726-106A>T) | |
| 5 | g.69420354T>A | CA359925071 | MARVELD2 | c.969T>A (p.Tyr323Ter) c.726-105T>A (n.726-105T>A) | |
| 5 | g.69420354T>C | CA445083754 | MARVELD2 | c.969T>C (p.Tyr323=) c.726-105T>C (n.726-105T>C) | |
| 5 | g.69420354T>G | CA359925072 | MARVELD2 | c.969T>G (p.Tyr323Ter) c.726-105T>G (n.726-105T>G) | |
| 5 | g.69420355C>A | CA359925073 | MARVELD2 | c.970C>A (p.Pro324Thr) c.726-104C>A (n.726-104C>A) | |
| 5 | g.69420355C>G | CA359925074 | MARVELD2 | c.970C>G (p.Pro324Ala) c.726-104C>G (n.726-104C>G) | |
| 5 | g.69420355C>T | CA359925075 | MARVELD2 | c.970C>T (p.Pro324Ser) c.726-104C>T (n.726-104C>T) | |
| 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) |