| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420284T>A | CA359924923 | MARVELD2 | c.899T>A (p.Leu300Ter) c.726-175T>A (n.726-175T>A) | |
| 5 | g.69420284T>C | CA359924924 | MARVELD2 | c.899T>C (p.Leu300Ser) c.726-175T>C (n.726-175T>C) | |
| 5 | g.69420284T>G | CA359924925 | MARVELD2 | c.899T>G (p.Leu300Trp) c.726-175T>G (n.726-175T>G) | |
| 5 | g.69420285G>A | CA176718 | MARVELD2 | c.900G>A (p.Leu300=) c.726-174G>A (n.726-174G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420285G>C | CA359924927 | MARVELD2 | c.900G>C (p.Leu300Phe) c.726-174G>C (n.726-174G>C) | |
| 5 | g.69420285G= | CA1553917164 | MARVELD2 | c.900G= (p.Leu300=) c.726-174G= (n.726-174G=) | |
| 5 | g.69420285G>T | CA359924926 | MARVELD2 | c.900G>T (p.Leu300Phe) c.726-174G>T (n.726-174G>T) | gnomAD v4 |
| 5 | g.69420286T>A | CA359924928 | MARVELD2 | c.901T>A (p.Phe301Ile) c.726-173T>A (n.726-173T>A) | |
| 5 | g.69420286T>C | CA359924929 | MARVELD2 | c.901T>C (p.Phe301Leu) c.726-173T>C (n.726-173T>C) | gnomAD v4 |
| 5 | g.69420286T>G | CA359924930 | MARVELD2 | c.901T>G (p.Phe301Val) c.726-173T>G (n.726-173T>G) | |
| 5 | g.69420287T>A | CA359924931 | MARVELD2 | c.902T>A (p.Phe301Tyr) c.726-172T>A (n.726-172T>A) | |
| 5 | g.69420287T>C | CA359924932 | MARVELD2 | c.902T>C (p.Phe301Ser) c.726-172T>C (n.726-172T>C) | |
| 5 | g.69420287T>G | CA359924933 | MARVELD2 | c.902T>G (p.Phe301Cys) c.726-172T>G (n.726-172T>G) | gnomAD v4 |
| 5 | g.69420288T>A | CA359924934 | MARVELD2 | c.903T>A (p.Phe301Leu) c.726-171T>A (n.726-171T>A) | |
| 5 | g.69420288T>C | CA445083536 | MARVELD2 | c.903T>C (p.Phe301=) c.726-171T>C (n.726-171T>C) | |
| 5 | g.69420288T>G | CA359924935 | MARVELD2 | c.903T>G (p.Phe301Leu) c.726-171T>G (n.726-171T>G) | |
| 5 | g.69420289A>C | CA359924936 | MARVELD2 | c.904A>C (p.Ile302Leu) c.726-170A>C (n.726-170A>C) | |
| 5 | g.69420289A>G | CA359924937 | MARVELD2 | c.904A>G (p.Ile302Val) c.726-170A>G (n.726-170A>G) | |
| 5 | g.69420289A>T | CA359924938 | MARVELD2 | c.904A>T (p.Ile302Phe) c.726-170A>T (n.726-170A>T) | |
| 5 | g.69420290T>A | CA359924939 | MARVELD2 | c.905T>A (p.Ile302Asn) c.726-169T>A (n.726-169T>A) | |
| 5 | g.69420290T>C | CA359924940 | MARVELD2 | c.905T>C (p.Ile302Thr) c.726-169T>C (n.726-169T>C) | |
| 5 | g.69420290T>G | CA359924941 | MARVELD2 | c.905T>G (p.Ile302Ser) c.726-169T>G (n.726-169T>G) | |
| 5 | g.69420291T>A | CA445083540 | MARVELD2 | c.906T>A (p.Ile302=) c.726-168T>A (n.726-168T>A) | |
| 5 | g.69420291T>C | CA445083541 | MARVELD2 | c.906T>C (p.Ile302=) c.726-168T>C (n.726-168T>C) | |
| 5 | g.69420291T>G | CA359924942 | MARVELD2 | c.906T>G (p.Ile302Met) c.726-168T>G (n.726-168T>G) | gnomAD v4 |
| 5 | g.69420292T>A | CA359924944 | MARVELD2 | c.907T>A (p.Leu303Met) c.726-167T>A (n.726-167T>A) | |
| 5 | g.69420292T>C | CA445083547 | MARVELD2 | c.907T>C (p.Leu303=) c.726-167T>C (n.726-167T>C) | |
| 5 | g.69420292T>G | CA359924943 | MARVELD2 | c.907T>G (p.Leu303Val) c.726-167T>G (n.726-167T>G) | |
| 5 | g.69420293T>A | CA359924947 | MARVELD2 | c.908T>A (p.Leu303Ter) c.726-166T>A (n.726-166T>A) | |
| 5 | g.69420293T>C | CA359924945 | MARVELD2 | c.908T>C (p.Leu303Ser) c.726-166T>C (n.726-166T>C) | |
| 5 | g.69420293T>G | CA359924946 | MARVELD2 | c.908T>G (p.Leu303Trp) c.726-166T>G (n.726-166T>G) | |
| 5 | g.69420294G>A | CA445083553 | MARVELD2 | c.909G>A (p.Leu303=) c.726-165G>A (n.726-165G>A) | |
| 5 | g.69420294G>C | CA359924948 | MARVELD2 | c.909G>C (p.Leu303Phe) c.726-165G>C (n.726-165G>C) | gnomAD v4 |
| 5 | g.69420294G>T | CA359924949 | MARVELD2 | c.909G>T (p.Leu303Phe) c.726-165G>T (n.726-165G>T) | |
| 5 | g.69420295T>A | CA359924950 | MARVELD2 | c.910T>A (p.Tyr304Asn) c.726-164T>A (n.726-164T>A) | |
| 5 | g.69420295T>C | CA359924951 | MARVELD2 | c.910T>C (p.Tyr304His) c.726-164T>C (n.726-164T>C) | |
| 5 | g.69420295T>G | CA359924952 | MARVELD2 | c.910T>G (p.Tyr304Asp) c.726-164T>G (n.726-164T>G) | |
| 5 | g.69420296A= | CA1553917170 | MARVELD2 | c.911A= (p.Tyr304=) c.726-163A= (n.726-163A=) | |
| 5 | g.69420296A>C | CA3294135 | MARVELD2 | c.911A>C (p.Tyr304Ser) c.726-163A>C (n.726-163A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420296A>G | CA359924953 | MARVELD2 | c.911A>G (p.Tyr304Cys) c.726-163A>G (n.726-163A>G) | |
| 5 | g.69420296A>T | CA359924954 | MARVELD2 | c.911A>T (p.Tyr304Phe) c.726-163A>T (n.726-163A>T) | |
| 5 | g.69420297T>A | CA359924955 | MARVELD2 | c.912T>A (p.Tyr304Ter) c.726-162T>A (n.726-162T>A) | |
| 5 | g.69420297T>C | CA445083565 | MARVELD2 | c.912T>C (p.Tyr304=) c.726-162T>C (n.726-162T>C) | |
| 5 | g.69420297T>G | CA359924956 | MARVELD2 | c.912T>G (p.Tyr304Ter) c.726-162T>G (n.726-162T>G) | |
| 5 | g.69420298A= | CA1553917172 | MARVELD2 | c.913A= (p.Met305=) c.726-161A= (n.726-161A=) | |
| 5 | g.69420298A>C | CA359924959 | MARVELD2 | c.913A>C (p.Met305Leu) c.726-161A>C (n.726-161A>C) | |
| 5 | g.69420298A>G | CA359924957 | MARVELD2 | c.913A>G (p.Met305Val) c.726-161A>G (n.726-161A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420298A>T | CA359924958 | MARVELD2 | c.913A>T (p.Met305Leu) c.726-161A>T (n.726-161A>T) | |
| 5 | g.69420299T>A | CA359924960 | MARVELD2 | c.914T>A (p.Met305Lys) c.726-160T>A (n.726-160T>A) | |
| 5 | g.69420299T>C | CA359924961 | MARVELD2 | c.914T>C (p.Met305Thr) c.726-160T>C (n.726-160T>C) | |
| 5 | g.69420299T>G | CA359924962 | MARVELD2 | c.914T>G (p.Met305Arg) c.726-160T>G (n.726-160T>G) | |
| 5 | g.69420300G>A | CA359924963 | MARVELD2 | c.915G>A (p.Met305Ile) c.726-159G>A (n.726-159G>A) | |
| 5 | g.69420300G>C | CA359924964 | MARVELD2 | c.915G>C (p.Met305Ile) c.726-159G>C (n.726-159G>C) | |
| 5 | g.69420300G>T | CA359924965 | MARVELD2 | c.915G>T (p.Met305Ile) c.726-159G>T (n.726-159G>T) | |
| 5 | g.69420301G>A | CA359924966 | MARVELD2 | c.916G>A (p.Ala306Thr) c.726-158G>A (n.726-158G>A) | dbSNP |
| 5 | g.69420301G>C | CA359924967 | MARVELD2 | c.916G>C (p.Ala306Pro) c.726-158G>C (n.726-158G>C) | |
| 5 | g.69420301G= | CA1553917175 | MARVELD2 | c.916G= (p.Ala306=) c.726-158G= (n.726-158G=) | |
| 5 | g.69420301G>T | CA359924968 | MARVELD2 | c.916G>T (p.Ala306Ser) c.726-158G>T (n.726-158G>T) | |
| 5 | g.69420302C>A | CA359924969 | MARVELD2 | c.917C>A (p.Ala306Asp) c.726-157C>A (n.726-157C>A) | |
| 5 | g.69420302C>G | CA359924970 | MARVELD2 | c.917C>G (p.Ala306Gly) c.726-157C>G (n.726-157C>G) | |
| 5 | g.69420302C>T | CA359924971 | MARVELD2 | c.917C>T (p.Ala306Val) c.726-157C>T (n.726-157C>T) | |
| 5 | g.69420303C>A | CA445083579 | MARVELD2 | c.918C>A (p.Ala306=) c.726-156C>A (n.726-156C>A) | |
| 5 | g.69420303C= | CA1553917177 | MARVELD2 | c.918C= (p.Ala306=) c.726-156C= (n.726-156C=) | |
| 5 | g.69420303C>G | CA445083580 | MARVELD2 | c.918C>G (p.Ala306=) c.726-156C>G (n.726-156C>G) | |
| 5 | g.69420303C>T | CA3294136 | MARVELD2 | c.918C>T (p.Ala306=) c.726-156C>T (n.726-156C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420304G>A | CA3294137 | MARVELD2 | c.919G>A (p.Ala307Thr) c.726-155G>A (n.726-155G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420304G>C | CA359924972 | MARVELD2 | c.919G>C (p.Ala307Pro) c.726-155G>C (n.726-155G>C) | |
| 5 | g.69420304G= | CA1553917183 | MARVELD2 | c.919G= (p.Ala307=) c.726-155G= (n.726-155G=) | |
| 5 | g.69420304G>T | CA3294138 | MARVELD2 | c.919G>T (p.Ala307Ser) c.726-155G>T (n.726-155G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420305C>A | CA359924973 | MARVELD2 | c.920C>A (p.Ala307Glu) c.726-154C>A (n.726-154C>A) | |
| 5 | g.69420305C>G | CA359924974 | MARVELD2 | c.920C>G (p.Ala307Gly) c.726-154C>G (n.726-154C>G) | |
| 5 | g.69420305C>T | CA359924975 | MARVELD2 | c.920C>T (p.Ala307Val) c.726-154C>T (n.726-154C>T) | |
| 5 | g.69420306A>C | CA445083587 | MARVELD2 | c.921A>C (p.Ala307=) c.726-153A>C (n.726-153A>C) | |
| 5 | g.69420306A>G | CA445083592 | MARVELD2 | c.921A>G (p.Ala307=) c.726-153A>G (n.726-153A>G) | |
| 5 | g.69420306A>T | CA445083591 | MARVELD2 | c.921A>T (p.Ala307=) c.726-153A>T (n.726-153A>T) | |
| 5 | g.69420307G>A | CA359924976 | MARVELD2 | c.922G>A (p.Ala308Thr) c.726-152G>A (n.726-152G>A) | |
| 5 | g.69420307G>C | CA3294139 | MARVELD2 | c.922G>C (p.Ala308Pro) c.726-152G>C (n.726-152G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420307G= | CA1553917188 | MARVELD2 | c.922G= (p.Ala308=) c.726-152G= (n.726-152G=) | |
| 5 | g.69420307G>T | CA359924977 | MARVELD2 | c.922G>T (p.Ala308Ser) c.726-152G>T (n.726-152G>T) | |
| 5 | g.69420308C>A | CA359924978 | MARVELD2 | c.923C>A (p.Ala308Asp) c.726-151C>A (n.726-151C>A) | |
| 5 | g.69420308C= | CA1553917191 | MARVELD2 | c.923C= (p.Ala308=) c.726-151C= (n.726-151C=) | |
| 5 | g.69420308C>G | CA3294140 | MARVELD2 | c.923C>G (p.Ala308Gly) c.726-151C>G (n.726-151C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69420308C>T | CA359924979 | MARVELD2 | c.923C>T (p.Ala308Val) c.726-151C>T (n.726-151C>T) | dbSNP gnomAD v4 |
| 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) |