UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.74741015G>A | CA413665502 | NEXMIF | c.3542C>T (p.Pro1181Leu) | gnomAD v4 |
| X | g.74741015G>C | CA413665504 | NEXMIF | c.3542C>G (p.Pro1181Arg) | dbSNP |
| X | g.74741015G= | CA2437590203 | NEXMIF | c.3542C= (p.Pro1181=) | |
| X | g.74741015G>T | CA413665501 | NEXMIF | c.3542C>A (p.Pro1181His) | |
| X | g.74741016G>A | CA413665506 | NEXMIF | c.3541C>T (p.Pro1181Ser) | |
| X | g.74741016G>C | CA413665509 | NEXMIF | c.3541C>G (p.Pro1181Ala) | gnomAD v4 |
| X | g.74741016G>T | CA413665508 | NEXMIF | c.3541C>A (p.Pro1181Thr) | |
| X | g.74741017T>A | CA517466165 | NEXMIF | c.3540A>T (p.Ser1180=) | |
| X | g.74741017T>C | CA517466162 | NEXMIF | c.3540A>G (p.Ser1180=) | |
| X | g.74741017T>G | CA517466163 | NEXMIF | c.3540A>C (p.Ser1180=) | gnomAD v4 |
| X | g.74741018G>A | CA413665512 | NEXMIF | c.3539C>T (p.Ser1180Leu) | COSMIC |
| X | g.74741018G>C | CA413665514 | NEXMIF | c.3539C>G (p.Ser1180Ter) | |
| X | g.74741018G>T | CA413665513 | NEXMIF | c.3539C>A (p.Ser1180Ter) | ClinVar |
| X | g.74741019A>C | CA413665516 | NEXMIF | c.3538T>G (p.Ser1180Ala) | |
| X | g.74741019A>G | CA413665518 | NEXMIF | c.3538T>C (p.Ser1180Pro) | |
| X | g.74741019A>T | CA413665520 | NEXMIF | c.3538T>A (p.Ser1180Thr) | |
| X | g.74741020A>C | CA413665521 | NEXMIF | c.3537T>G (p.Ser1179Arg) | |
| X | g.74741020A>G | CA517466166 | NEXMIF | c.3537T>C (p.Ser1179=) | |
| X | g.74741020A>T | CA413665523 | NEXMIF | c.3537T>A (p.Ser1179Arg) | |
| X | g.74741021C>A | CA413665524 | NEXMIF | c.3536G>T (p.Ser1179Ile) | COSMIC |
| X | g.74741021C>G | CA413665526 | NEXMIF | c.3536G>C (p.Ser1179Thr) | gnomAD v4 |
| X | g.74741021C>T | CA413665528 | NEXMIF | c.3536G>A (p.Ser1179Asn) | |
| X | g.74741022T>A | CA413665529 | NEXMIF | c.3535A>T (p.Ser1179Cys) | |
| X | g.74741022T>C | CA413665530 | NEXMIF | c.3535A>G (p.Ser1179Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741022T>G | CA413665531 | NEXMIF | c.3535A>C (p.Ser1179Arg) | COSMIC |
| X | g.74741022T= | CA2437590204 | NEXMIF | c.3535A= (p.Ser1179=) | |
| X | g.74741023T>A | CA413665534 | NEXMIF | c.3534A>T (p.Lys1178Asn) | |
| X | g.74741023T>C | CA517466172 | NEXMIF | c.3534A>G (p.Lys1178=) | |
| X | g.74741023T>G | CA413665536 | NEXMIF | c.3534A>C (p.Lys1178Asn) | |
| X | g.74741024T>A | CA413665539 | NEXMIF | c.3533A>T (p.Lys1178Ile) | |
| X | g.74741024T>C | CA10454934 | NEXMIF | c.3533A>G (p.Lys1178Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74741024T>G | CA413665541 | NEXMIF | c.3533A>C (p.Lys1178Thr) | |
| X | g.74741024T= | CA2437590205 | NEXMIF | c.3533A= (p.Lys1178=) | |
| X | g.74741025T>A | CA413665544 | NEXMIF | c.3532A>T (p.Lys1178Ter) | |
| X | g.74741025T>C | CA413665546 | NEXMIF | c.3532A>G (p.Lys1178Glu) | |
| X | g.74741025T>G | CA413665548 | NEXMIF | c.3532A>C (p.Lys1178Gln) | |
| X | g.74741026C>A | CA413665549 | NEXMIF | c.3531G>T (p.Lys1177Asn) | |
| X | g.74741026C>G | CA413665550 | NEXMIF | c.3531G>C (p.Lys1177Asn) | |
| X | g.74741026C>T | CA517466173 | NEXMIF | c.3531G>A (p.Lys1177=) | gnomAD v4 |
| X | g.74741027T>A | CA413665552 | NEXMIF | c.3530A>T (p.Lys1177Met) | |
| X | g.74741027T>C | CA413665554 | NEXMIF | c.3530A>G (p.Lys1177Arg) | gnomAD v4 |
| X | g.74741027T>G | CA413665556 | NEXMIF | c.3530A>C (p.Lys1177Thr) | |
| X | g.74741028T>A | CA413665558 | NEXMIF | c.3529A>T (p.Lys1177Ter) | |
| X | g.74741028T>C | CA413665559 | NEXMIF | c.3529A>G (p.Lys1177Glu) | |
| X | g.74741028T>G | CA413665561 | NEXMIF | c.3529A>C (p.Lys1177Gln) | |
| X | g.74741029T>A | CA413665562 | NEXMIF | c.3528A>T (p.Arg1176Ser) | |
| X | g.74741029T>C | CA517466176 | NEXMIF | c.3528A>G (p.Arg1176=) | |
| X | g.74741029T>G | CA413665564 | NEXMIF | c.3528A>C (p.Arg1176Ser) | |
| X | g.74741030C>A | CA413665565 | NEXMIF | c.3527G>T (p.Arg1176Ile) | |
| X | g.74741030C>G | CA413665566 | NEXMIF | c.3527G>C (p.Arg1176Thr) | |
| X | g.74741030C>T | CA413665567 | NEXMIF | c.3527G>A (p.Arg1176Lys) | |
| X | g.74741031T>A | CA413665568 | NEXMIF | c.3526A>T (p.Arg1176Ter) | |
| X | g.74741031T>C | CA413665569 | NEXMIF | c.3526A>G (p.Arg1176Gly) | |
| X | g.74741031T>G | CA517466183 | NEXMIF | c.3526A>C (p.Arg1176=) | |
| X | g.74741032T>A | CA517466185 | NEXMIF | c.3525A>T (p.Ser1175=) | |
| X | g.74741032T>C | CA517466186 | NEXMIF | c.3525A>G (p.Ser1175=) | |
| X | g.74741032T>G | CA517466187 | NEXMIF | c.3525A>C (p.Ser1175=) | |
| X | g.74741033G>A | CA413665570 | NEXMIF | c.3524C>T (p.Ser1175Leu) | |
| X | g.74741033G>C | CA413665571 | NEXMIF | c.3524C>G (p.Ser1175Ter) | |
| X | g.74741033G= | CA2437590206 | NEXMIF | c.3524C= (p.Ser1175=) | |
| X | g.74741033G>T | CA413665573 | NEXMIF | c.3524C>A (p.Ser1175Ter) | ClinVar dbSNP |
| X | g.74741034A>C | CA413665575 | NEXMIF | c.3523T>G (p.Ser1175Ala) | |
| X | g.74741034A>G | CA413665577 | NEXMIF | c.3523T>C (p.Ser1175Pro) | |
| X | g.74741034A>T | CA413665579 | NEXMIF | c.3523T>A (p.Ser1175Thr) | |
| X | g.74741035T>A | CA413665580 | NEXMIF | c.3522A>T (p.Lys1174Asn) | |
| X | g.74741035T>C | CA517466188 | NEXMIF | c.3522A>G (p.Lys1174=) | |
| X | g.74741035T>G | CA413665582 | NEXMIF | c.3522A>C (p.Lys1174Asn) | |
| X | g.74741036T>A | CA413665588 | NEXMIF | c.3521A>T (p.Lys1174Ile) | |
| X | g.74741036T>C | CA413665585 | NEXMIF | c.3521A>G (p.Lys1174Arg) | |
| X | g.74741036T>G | CA413665586 | NEXMIF | c.3521A>C (p.Lys1174Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741036T= | CA2437590207 | NEXMIF | c.3521A= (p.Lys1174=) | |
| X | g.74741037T>A | CA413665590 | NEXMIF | c.3520A>T (p.Lys1174Ter) | |
| X | g.74741037T>C | CA413665591 | NEXMIF | c.3520A>G (p.Lys1174Glu) | |
| X | g.74741037T>G | CA413665593 | NEXMIF | c.3520A>C (p.Lys1174Gln) | |
| X | g.74741038T>A | CA517466190 | NEXMIF | c.3519A>T (p.Ser1173=) | |
| X | g.74741038T>C | CA517466191 | NEXMIF | c.3519A>G (p.Ser1173=) | |
| X | g.74741038T>G | CA517466193 | NEXMIF | c.3519A>C (p.Ser1173=) | |
| X | g.74741039G>A | CA413665595 | NEXMIF | c.3518C>T (p.Ser1173Leu) | |
| X | g.74741039G>C | CA413665597 | NEXMIF | c.3518C>G (p.Ser1173Ter) | |
| X | g.74741039G>T | CA413665599 | NEXMIF | c.3518C>A (p.Ser1173Ter) | |
| X | g.74741040A>C | CA413665601 | NEXMIF | c.3517T>G (p.Ser1173Ala) | |
| X | g.74741040A>G | CA413665602 | NEXMIF | c.3517T>C (p.Ser1173Pro) | COSMIC |
| X | g.74741040A>T | CA413665604 | NEXMIF | c.3517T>A (p.Ser1173Thr) | |
| X | g.74741041C>A | CA517466196 | NEXMIF | c.3516G>T (p.Val1172=) | |
| X | g.74741041C>G | CA517466194 | NEXMIF | c.3516G>C (p.Val1172=) | |
| X | g.74741041C>T | CA517466195 | NEXMIF | c.3516G>A (p.Val1172=) | gnomAD v4 |
| X | g.74741042A>C | CA413665606 | NEXMIF | c.3515T>G (p.Val1172Gly) | |
| X | g.74741042A>G | CA413665608 | NEXMIF | c.3515T>C (p.Val1172Ala) | |
| X | g.74741042A>T | CA413665609 | NEXMIF | c.3515T>A (p.Val1172Glu) | |
| X | g.74741043C>A | CA413665611 | NEXMIF | c.3514G>T (p.Val1172Leu) | |
| X | g.74741043C>G | CA413665615 | NEXMIF | c.3514G>C (p.Val1172Leu) | ClinVar |
| X | g.74741043C>T | CA413665613 | NEXMIF | c.3514G>A (p.Val1172Met) | |
| X | g.74741044T>A | CA413665616 | NEXMIF | c.3513A>T (p.Lys1171Asn) | |
| X | g.74741044T>C | CA517466201 | NEXMIF | c.3513A>G (p.Lys1171=) | |
| X | g.74741044T>G | CA413665618 | NEXMIF | c.3513A>C (p.Lys1171Asn) | |
| X | g.74741044_74741046del | CA2694119726 | NEXMIF | c.3511_3513del (p.Lys1171del) | gnomAD v4 |
| X | g.74741045T>A | CA413665620 | NEXMIF | c.3512A>T (p.Lys1171Ile) | |
| X | g.74741045T>C | CA413665622 | NEXMIF | c.3512A>G (p.Lys1171Arg) | |
| X | g.74741045T>G | CA413665623 | NEXMIF | c.3512A>C (p.Lys1171Thr) | |
| X | g.74741046T>A | CA413665626 | NEXMIF | c.3511A>T (p.Lys1171Ter) | |
| X | g.74741046T>C | CA413665628 | NEXMIF | c.3511A>G (p.Lys1171Glu) | |
| X | g.74741046T>G | CA413665629 | NEXMIF | c.3511A>C (p.Lys1171Gln) | |
| X | g.74741047G>A | CA517466204 | NEXMIF | c.3510C>T (p.Asn1170=) | |
| X | g.74741047G>C | CA413665630 | NEXMIF | c.3510C>G (p.Asn1170Lys) | |
| X | g.74741047G= | CA2437590208 | NEXMIF | c.3510C= (p.Asn1170=) | |
| X | g.74741047G>T | CA413665632 | NEXMIF | c.3510C>A (p.Asn1170Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.74741048T>A | CA413665633 | NEXMIF | c.3509A>T (p.Asn1170Ile) | |
| X | g.74741048T>C | CA413665635 | NEXMIF | c.3509A>G (p.Asn1170Ser) | gnomAD v4 |
| X | g.74741048T>G | CA413665636 | NEXMIF | c.3509A>C (p.Asn1170Thr) | |
| X | g.74741049T>A | CA413665641 | NEXMIF | c.3508A>T (p.Asn1170Tyr) | |
| X | g.74741049T>C | CA413665637 | NEXMIF | c.3508A>G (p.Asn1170Asp) | |
| X | g.74741049T>G | CA413665639 | NEXMIF | c.3508A>C (p.Asn1170His) | |
| X | g.74741050G>A | CA10454935 | NEXMIF | c.3507C>T (p.Asn1169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741050G>C | CA413665643 | NEXMIF | c.3507C>G (p.Asn1169Lys) | |
| X | g.74741050G= | CA2437590209 | NEXMIF | c.3507C= (p.Asn1169=) | |
| X | g.74741050G>T | CA413665645 | NEXMIF | c.3507C>A (p.Asn1169Lys) | ClinVar |
| X | g.74741051T>A | CA413665648 | NEXMIF | c.3506A>T (p.Asn1169Ile) | |
| X | g.74741051T>C | CA413665649 | NEXMIF | c.3506A>G (p.Asn1169Ser) | |
| X | g.74741051T>G | CA413665650 | NEXMIF | c.3506A>C (p.Asn1169Thr) | |
| X | g.74741052T>A | CA413665653 | NEXMIF | c.3505A>T (p.Asn1169Tyr) | |
| X | g.74741052T>C | CA413665654 | NEXMIF | c.3505A>G (p.Asn1169Asp) | |
| X | g.74741052T>G | CA413665655 | NEXMIF | c.3505A>C (p.Asn1169His) | |
| X | g.74741053G>A | CA517466212 | NEXMIF | c.3504C>T (p.Thr1168=) | gnomAD v4 |
| X | g.74741053G>C | CA517466213 | NEXMIF | c.3504C>G (p.Thr1168=) | |
| X | g.74741053G>T | CA517466214 | NEXMIF | c.3504C>A (p.Thr1168=) | |
| X | g.74741054G>A | CA413665658 | NEXMIF | c.3503C>T (p.Thr1168Ile) | |
| X | g.74741054G>C | CA413665660 | NEXMIF | c.3503C>G (p.Thr1168Ser) | |
| X | g.74741054G= | CA2437590210 | NEXMIF | c.3503C= (p.Thr1168=) | |
| X | g.74741054G>T | CA10454936 | NEXMIF | c.3503C>A (p.Thr1168Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741055T>A | CA413665662 | NEXMIF | c.3502A>T (p.Thr1168Ser) | |
| X | g.74741055T>C | CA413665665 | NEXMIF | c.3502A>G (p.Thr1168Ala) | dbSNP |
| X | g.74741055T>G | CA413665664 | NEXMIF | c.3502A>C (p.Thr1168Pro) | |
| X | g.74741055T= | CA2437590211 | NEXMIF | c.3502A= (p.Thr1168=) | |
| X | g.74741056A= | CA2437590212 | NEXMIF | c.3501T= (p.Ser1167=) | |
| X | g.74741056A>C | CA413665667 | NEXMIF | c.3501T>G (p.Ser1167Arg) | |
| X | g.74741056A>G | CA517466219 | NEXMIF | c.3501T>C (p.Ser1167=) | |
| X | g.74741056A>T | CA10454937 | NEXMIF | c.3501T>A (p.Ser1167Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74741057C>A | CA413665670 | NEXMIF | c.3500G>T (p.Ser1167Ile) | |
| X | g.74741057C>G | CA413665671 | NEXMIF | c.3500G>C (p.Ser1167Thr) | |
| X | g.74741057C>T | CA413665673 | NEXMIF | c.3500G>A (p.Ser1167Asn) | |
| X | g.74741058T>A | CA413665675 | NEXMIF | c.3499A>T (p.Ser1167Cys) | |
| X | g.74741058T>C | CA413665677 | NEXMIF | c.3499A>G (p.Ser1167Gly) | ClinVar |
| X | g.74741058T>G | CA413665678 | NEXMIF | c.3499A>C (p.Ser1167Arg) | |
| X | g.74741059A>C | CA413665680 | NEXMIF | c.3498T>G (p.Ile1166Met) | |
| X | g.74741059A>G | CA517466222 | NEXMIF | c.3498T>C (p.Ile1166=) | |
| X | g.74741059A>T | CA517466223 | NEXMIF | c.3498T>A (p.Ile1166=) | |
| X | g.74741060A>C | CA413665682 | NEXMIF | c.3497T>G (p.Ile1166Ser) | COSMIC |
| X | g.74741060A>G | CA413665683 | NEXMIF | c.3497T>C (p.Ile1166Thr) | |
| X | g.74741060A>T | CA413665684 | NEXMIF | c.3497T>A (p.Ile1166Asn) | |
| X | g.74741061T>A | CA413665688 | NEXMIF | c.3496A>T (p.Ile1166Phe) | |
| X | g.74741061T>C | CA413665685 | NEXMIF | c.3496A>G (p.Ile1166Val) | |
| X | g.74741061T>G | CA413665686 | NEXMIF | c.3496A>C (p.Ile1166Leu) | |
| X | g.74741062T>A | CA413665689 | NEXMIF | c.3495A>T (p.Gln1165His) | |
| X | g.74741062T>C | CA517466227 | NEXMIF | c.3495A>G (p.Gln1165=) | gnomAD v4 |
| X | g.74741062T>G | CA413665690 | NEXMIF | c.3495A>C (p.Gln1165His) | |
| X | g.74741063T>A | CA413665691 | NEXMIF | c.3494A>T (p.Gln1165Leu) | |
| X | g.74741063T>C | CA413665692 | NEXMIF | c.3494A>G (p.Gln1165Arg) | |
| X | g.74741063T>G | CA413665694 | NEXMIF | c.3494A>C (p.Gln1165Pro) | |
| X | g.74741064G>A | CA413665696 | NEXMIF | c.3493C>T (p.Gln1165Ter) | ClinVar dbSNP |
| X | g.74741064G>C | CA413665697 | NEXMIF | c.3493C>G (p.Gln1165Glu) | |
| X | g.74741064G= | CA2437590213 | NEXMIF | c.3493C= (p.Gln1165=) | |
| X | g.74741064G>T | CA413665699 | NEXMIF | c.3493C>A (p.Gln1165Lys) | |
| X | g.74741065A= | CA2437590214 | NEXMIF | c.3492T= (p.Gly1164=) | |
| X | g.74741065A>C | CA517466228 | NEXMIF | c.3492T>G (p.Gly1164=) | |
| X | g.74741065A>G | CA517466229 | NEXMIF | c.3492T>C (p.Gly1164=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741065A>T | CA517466230 | NEXMIF | c.3492T>A (p.Gly1164=) | |
| X | g.74741066C>A | CA413665702 | NEXMIF | c.3491G>T (p.Gly1164Val) | |
| X | g.74741066C>G | CA413665704 | NEXMIF | c.3491G>C (p.Gly1164Ala) | |
| X | g.74741066C>T | CA413665706 | NEXMIF | c.3491G>A (p.Gly1164Asp) | |
| X | g.74741067C>A | CA413665709 | NEXMIF | c.3490G>T (p.Gly1164Cys) | |
| X | g.74741067C>G | CA413665711 | NEXMIF | c.3490G>C (p.Gly1164Arg) | COSMIC |
| X | g.74741067C>T | CA413665707 | NEXMIF | c.3490G>A (p.Gly1164Ser) | |
| X | g.74741068A>C | CA517466232 | NEXMIF | c.3489T>G (p.Ser1163=) | |
| X | g.74741068A>G | CA517466234 | NEXMIF | c.3489T>C (p.Ser1163=) | |
| X | g.74741068A>T | CA517466233 | NEXMIF | c.3489T>A (p.Ser1163=) | |
| X | g.74741069G>A | CA413665713 | NEXMIF | c.3488C>T (p.Ser1163Phe) | |
| X | g.74741069G>C | CA413665714 | NEXMIF | c.3488C>G (p.Ser1163Cys) | |
| X | g.74741069G>T | CA413665716 | NEXMIF | c.3488C>A (p.Ser1163Tyr) | |
| X | g.74741070A>C | CA413665719 | NEXMIF | c.3487T>G (p.Ser1163Ala) | |
| X | g.74741070A>G | CA413665720 | NEXMIF | c.3487T>C (p.Ser1163Pro) | gnomAD v4 |
| X | g.74741070A>T | CA413665721 | NEXMIF | c.3487T>A (p.Ser1163Thr) | |
| X | g.74741071T>A | CA517466311 | NEXMIF | c.3486A>T (p.Pro1162=) | dbSNP |
| X | g.74741071T>C | CA517466312 | NEXMIF | c.3486A>G (p.Pro1162=) | ClinVar gnomAD v4 |
| X | g.74741071T>G | CA517466313 | NEXMIF | c.3486A>C (p.Pro1162=) | |
| X | g.74741071T= | CA2437590215 | NEXMIF | c.3486A= (p.Pro1162=) | |
| X | g.74741072G>A | CA413665734 | NEXMIF | c.3485C>T (p.Pro1162Leu) | ClinVar dbSNP |
| X | g.74741072G>C | CA413665723 | NEXMIF | c.3485C>G (p.Pro1162Arg) | |
| X | g.74741072G>T | CA413665732 | NEXMIF | c.3485C>A (p.Pro1162Gln) | |
| X | g.74741073G>A | CA413665742 | NEXMIF | c.3484C>T (p.Pro1162Ser) | COSMIC |
| X | g.74741073G>C | CA413665744 | NEXMIF | c.3484C>G (p.Pro1162Ala) | |
| X | g.74741073G= | CA2437590216 | NEXMIF | c.3484C= (p.Pro1162=) | |
| X | g.74741073G>T | CA413665746 | NEXMIF | c.3484C>A (p.Pro1162Thr) | dbSNP |
| X | g.74741074A>C | CA413665748 | NEXMIF | c.3483T>G (p.Asp1161Glu) | |
| X | g.74741074A>G | CA517466317 | NEXMIF | c.3483T>C (p.Asp1161=) | |
| X | g.74741074A>T | CA413665750 | NEXMIF | c.3483T>A (p.Asp1161Glu) | |
| X | g.74741075T>A | CA413665755 | NEXMIF | c.3482A>T (p.Asp1161Val) | |
| X | g.74741075T>C | CA10454938 | NEXMIF | c.3482A>G (p.Asp1161Gly) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.74741075T>G | CA413665753 | NEXMIF | c.3482A>C (p.Asp1161Ala) | gnomAD v4 |
| X | g.74741075T= | CA2437590217 | NEXMIF | c.3482A= (p.Asp1161=) | |
| X | g.74741076C>A | CA413665757 | NEXMIF | c.3481G>T (p.Asp1161Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.74741076C= | CA2437590218 | NEXMIF | c.3481G= (p.Asp1161=) | |
| X | g.74741076C>G | CA413665759 | NEXMIF | c.3481G>C (p.Asp1161His) | |
| X | g.74741076C>T | CA413665761 | NEXMIF | c.3481G>A (p.Asp1161Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.74741077A>C | CA413665762 | NEXMIF | c.3480T>G (p.Asn1160Lys) | |
| X | g.74741077A>G | CA517466320 | NEXMIF | c.3480T>C (p.Asn1160=) | |
| X | g.74741077A>T | CA413665763 | NEXMIF | c.3480T>A (p.Asn1160Lys) | |
| X | g.74741078T>A | CA413665766 | NEXMIF | c.3479A>T (p.Asn1160Ile) | |
| X | g.74741078T>C | CA10454939 | NEXMIF | c.3479A>G (p.Asn1160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741078T>G | CA413665768 | NEXMIF | c.3479A>C (p.Asn1160Thr) | |
| X | g.74741078T= | CA2437590219 | NEXMIF | c.3479A= (p.Asn1160=) | |
| X | g.74741079T>A | CA413665771 | NEXMIF | c.3478A>T (p.Asn1160Tyr) | |
| X | g.74741079T>C | CA10454940 | NEXMIF | c.3478A>G (p.Asn1160Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74741079T>G | CA413665773 | NEXMIF | c.3478A>C (p.Asn1160His) | |
| X | g.74741079T= | CA2437590220 | NEXMIF | c.3478A= (p.Asn1160=) | |
| X | g.74741080A>C | CA413665775 | NEXMIF | c.3477T>G (p.Phe1159Leu) | |
| X | g.74741080A>G | CA517466325 | NEXMIF | c.3477T>C (p.Phe1159=) | |
| X | g.74741080A>T | CA413665778 | NEXMIF | c.3477T>A (p.Phe1159Leu) | |
| X | g.74741081A>C | CA413665783 | NEXMIF | c.3476T>G (p.Phe1159Cys) | |
| X | g.74741081A>G | CA413665780 | NEXMIF | c.3476T>C (p.Phe1159Ser) | |
| X | g.74741081A>T | CA413665782 | NEXMIF | c.3476T>A (p.Phe1159Tyr) | |
| X | g.74741082A>C | CA413665786 | NEXMIF | c.3475T>G (p.Phe1159Val) | |
| X | g.74741082A>G | CA413665789 | NEXMIF | c.3475T>C (p.Phe1159Leu) | |
| X | g.74741082A>T | CA413665791 | NEXMIF | c.3475T>A (p.Phe1159Ile) | |
| X | g.74741083T>A | CA517466329 | NEXMIF | c.3474A>T (p.Thr1158=) | gnomAD v4 |
| X | g.74741083T>C | CA517466331 | NEXMIF | c.3474A>G (p.Thr1158=) | |
| X | g.74741083T>G | CA517466333 | NEXMIF | c.3474A>C (p.Thr1158=) | dbSNP |
| X | g.74741083T= | CA2437590221 | NEXMIF | c.3474A= (p.Thr1158=) | |
| X | g.74741084G>A | CA413665793 | NEXMIF | c.3473C>T (p.Thr1158Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741084G>C | CA413665794 | NEXMIF | c.3473C>G (p.Thr1158Arg) | |
| X | g.74741084G= | CA2437590222 | NEXMIF | c.3473C= (p.Thr1158=) | |
| X | g.74741084G>T | CA413665797 | NEXMIF | c.3473C>A (p.Thr1158Lys) | |
| X | g.74741085T>A | CA413665799 | NEXMIF | c.3472A>T (p.Thr1158Ser) | |
| X | g.74741085T>C | CA413665800 | NEXMIF | c.3472A>G (p.Thr1158Ala) | COSMIC |
| X | g.74741085T>G | CA413665803 | NEXMIF | c.3472A>C (p.Thr1158Pro) | |
| X | g.74741086T>A | CA517466334 | NEXMIF | c.3471A>T (p.Ser1157=) | |
| X | g.74741086T>C | CA517466335 | NEXMIF | c.3471A>G (p.Ser1157=) | |
| X | g.74741086T>G | CA10454941 | NEXMIF | c.3471A>C (p.Ser1157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741086T= | CA2437590223 | NEXMIF | c.3471A= (p.Ser1157=) | |
| X | g.74741087G>A | CA413665810 | NEXMIF | c.3470C>T (p.Ser1157Leu) | gnomAD v4 |
| X | g.74741087G>C | CA413665811 | NEXMIF | c.3470C>G (p.Ser1157Ter) | |
| X | g.74741087G= | CA2437590224 | NEXMIF | c.3470C= (p.Ser1157=) | |
| X | g.74741087G>T | CA16609399 | NEXMIF | c.3470C>A (p.Ser1157Ter) | ClinVar dbSNP |
| X | g.74741088A= | CA2437590225 | NEXMIF | c.3469T= (p.Ser1157=) | |
| X | g.74741088A>C | CA413665817 | NEXMIF | c.3469T>G (p.Ser1157Ala) | |
| X | g.74741088A>G | CA413665816 | NEXMIF | c.3469T>C (p.Ser1157Pro) | |
| X | g.74741088A>T | CA413665814 | NEXMIF | c.3469T>A (p.Ser1157Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741089C>A | CA517466342 | NEXMIF | c.3468G>T (p.Leu1156=) | gnomAD v4 |
| X | g.74741089C>G | CA517466341 | NEXMIF | c.3468G>C (p.Leu1156=) | |
| X | g.74741089C>T | CA517466339 | NEXMIF | c.3468G>A (p.Leu1156=) | gnomAD v4 |
| X | g.74741090A= | CA2437590226 | NEXMIF | c.3467T= (p.Leu1156=) | |
| X | g.74741090A>C | CA413665820 | NEXMIF | c.3467T>G (p.Leu1156Arg) | dbSNP gnomAD v4 |
| X | g.74741090A>G | CA413665821 | NEXMIF | c.3467T>C (p.Leu1156Pro) | |
| X | g.74741090A>T | CA413665823 | NEXMIF | c.3467T>A (p.Leu1156Gln) | |
| X | g.74741091G>A | CA517466344 | NEXMIF | c.3466C>T (p.Leu1156=) | COSMIC |
| X | g.74741091G>C | CA413665826 | NEXMIF | c.3466C>G (p.Leu1156Val) | |
| X | g.74741091G>T | CA413665827 | NEXMIF | c.3466C>A (p.Leu1156Met) | |
| X | g.74741092G>A | CA517466345 | NEXMIF | c.3465C>T (p.Cys1155=) | dbSNP gnomAD v4 |
| X | g.74741092G>C | CA413665830 | NEXMIF | c.3465C>G (p.Cys1155Trp) | |
| X | g.74741092G= | CA2437590227 | NEXMIF | c.3465C= (p.Cys1155=) | |
| X | g.74741092G>T | CA413665831 | NEXMIF | c.3465C>A (p.Cys1155Ter) | |
| X | g.74741093C>A | CA413665832 | NEXMIF | c.3464G>T (p.Cys1155Phe) | |
| X | g.74741093C= | CA2437590228 | NEXMIF | c.3464G= (p.Cys1155=) | |
| X | g.74741093C>G | CA413665833 | NEXMIF | c.3464G>C (p.Cys1155Ser) | |
| X | g.74741093C>T | CA413665834 | NEXMIF | c.3464G>A (p.Cys1155Tyr) | dbSNP gnomAD v4 |
| X | g.74741094A>C | CA413665836 | NEXMIF | c.3463T>G (p.Cys1155Gly) | |
| X | g.74741094A>G | CA413665837 | NEXMIF | c.3463T>C (p.Cys1155Arg) | gnomAD v4 |
| X | g.74741094A>T | CA413665839 | NEXMIF | c.3463T>A (p.Cys1155Ser) | |
| X | g.74741095A= | CA2437590229 | NEXMIF | c.3462T= (p.Pro1154=) | |
| X | g.74741095A>C | CA517466348 | NEXMIF | c.3462T>G (p.Pro1154=) | |
| X | g.74741095A>G | CA517466349 | NEXMIF | c.3462T>C (p.Pro1154=) | |
| X | g.74741095A>T | CA517466350 | NEXMIF | c.3462T>A (p.Pro1154=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741096G>A | CA413665842 | NEXMIF | c.3461C>T (p.Pro1154Leu) | |
| X | g.74741096G>C | CA413665844 | NEXMIF | c.3461C>G (p.Pro1154Arg) | gnomAD v4 |
| X | g.74741096G>T | CA413665841 | NEXMIF | c.3461C>A (p.Pro1154His) | |
| X | g.74741097G>A | CA331301718 | NEXMIF | c.3460C>T (p.Pro1154Ser) | ClinVar dbSNP |
| X | g.74741097G>C | CA413665846 | NEXMIF | c.3460C>G (p.Pro1154Ala) | |
| X | g.74741097G= | CA2437590230 | NEXMIF | c.3460C= (p.Pro1154=) | |
| X | g.74741097G>T | CA10454942 | NEXMIF | c.3460C>A (p.Pro1154Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741098G>A | CA517466353 | NEXMIF | c.3459C>T (p.Asn1153=) | COSMIC |
| X | g.74741098G>C | CA413665848 | NEXMIF | c.3459C>G (p.Asn1153Lys) | |
| X | g.74741098G= | CA2437590231 | NEXMIF | c.3459C= (p.Asn1153=) | |
| X | g.74741098G>T | CA413665850 | NEXMIF | c.3459C>A (p.Asn1153Lys) | ClinVar |
| X | g.74741099T>A | CA413665852 | NEXMIF | c.3458A>T (p.Asn1153Ile) | gnomAD v4 |
| X | g.74741099T>C | CA413665853 | NEXMIF | c.3458A>G (p.Asn1153Ser) | |
| X | g.74741099T>G | CA413665854 | NEXMIF | c.3458A>C (p.Asn1153Thr) | |
| X | g.74741105dup | CA645603759 | NEXMIF | c.3458dup (p.Asn1153LysfsTer8) | ClinVar dbSNP COSMIC |
| X | g.74741105del | CA645603758 | NEXMIF | c.3458del (p.Asn1153ThrfsTer?) | gnomAD v4 COSMIC |
| X | g.74741100T>A | CA413665856 | NEXMIF | c.3457A>T (p.Asn1153Tyr) | |
| X | g.74741100T>C | CA413665858 | NEXMIF | c.3457A>G (p.Asn1153Asp) | |
| X | g.74741100T>G | CA413665859 | NEXMIF | c.3457A>C (p.Asn1153His) | |
| X | g.74741101T>A | CA413665861 | NEXMIF | c.3456A>T (p.Lys1152Asn) | COSMIC |
| X | g.74741101T>C | CA517466356 | NEXMIF | c.3456A>G (p.Lys1152=) | |
| X | g.74741101T>G | CA413665863 | NEXMIF | c.3456A>C (p.Lys1152Asn) | |
| X | g.74741102T>A | CA413665868 | NEXMIF | c.3455A>T (p.Lys1152Ile) | |
| X | g.74741102T>C | CA413665866 | NEXMIF | c.3455A>G (p.Lys1152Arg) | |
| X | g.74741102T>G | CA413665865 | NEXMIF | c.3455A>C (p.Lys1152Thr) | |
| X | g.74741103T>A | CA413665870 | NEXMIF | c.3454A>T (p.Lys1152Ter) | |
| X | g.74741103T>C | CA413665871 | NEXMIF | c.3454A>G (p.Lys1152Glu) | |
| X | g.74741103T>G | CA413665873 | NEXMIF | c.3454A>C (p.Lys1152Gln) | |
| X | g.74741104T>A | CA413665876 | NEXMIF | c.3453A>T (p.Gln1151His) | |
| X | g.74741104T>C | CA517466360 | NEXMIF | c.3453A>G (p.Gln1151=) | |
| X | g.74741104T>G | CA413665877 | NEXMIF | c.3453A>C (p.Gln1151His) | |
| X | g.74741105T>A | CA413665879 | NEXMIF | c.3452A>T (p.Gln1151Leu) | |
| X | g.74741105T>C | CA413665881 | NEXMIF | c.3452A>G (p.Gln1151Arg) | |
| X | g.74741105T>G | CA413665883 | NEXMIF | c.3452A>C (p.Gln1151Pro) | |
| X | g.74741106G>A | CA413665884 | NEXMIF | c.3451C>T (p.Gln1151Ter) | |
| X | g.74741106G>C | CA413665886 | NEXMIF | c.3451C>G (p.Gln1151Glu) | |
| X | g.74741106G>T | CA413665888 | NEXMIF | c.3451C>A (p.Gln1151Lys) | |
| X | g.74741107G>A | CA517466363 | NEXMIF | c.3450C>T (p.Leu1150=) | |
| X | g.74741107G>C | CA517466364 | NEXMIF | c.3450C>G (p.Leu1150=) | |
| X | g.74741107G>T | CA517466365 | NEXMIF | c.3450C>A (p.Leu1150=) | |
| X | g.74741108A>C | CA413665890 | NEXMIF | c.3449T>G (p.Leu1150Arg) | |
| X | g.74741108A>G | CA413665891 | NEXMIF | c.3449T>C (p.Leu1150Pro) | |
| X | g.74741108A>T | CA413665893 | NEXMIF | c.3449T>A (p.Leu1150His) | |
| X | g.74741109G>A | CA413665897 | NEXMIF | c.3448C>T (p.Leu1150Phe) | COSMIC |
| X | g.74741109G>C | CA413665898 | NEXMIF | c.3448C>G (p.Leu1150Val) | |
| X | g.74741109G>T | CA413665895 | NEXMIF | c.3448C>A (p.Leu1150Ile) | |
| X | g.74741110C>A | CA517466368 | NEXMIF | c.3447G>T (p.Leu1149=) | dbSNP gnomAD v4 |
| X | g.74741110C= | CA2437590232 | NEXMIF | c.3447G= (p.Leu1149=) | |
| X | g.74741110C>G | CA517466372 | NEXMIF | c.3447G>C (p.Leu1149=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74741110C>T | CA517466370 | NEXMIF | c.3447G>A (p.Leu1149=) | |
| X | g.74741111A= | CA2437590233 | NEXMIF | c.3446T= (p.Leu1149=) | |
| X | g.74741111A>C | CA413665900 | NEXMIF | c.3446T>G (p.Leu1149Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74741111A>G | CA413665901 | NEXMIF | c.3446T>C (p.Leu1149Pro) | |
| X | g.74741111A>T | CA413665902 | NEXMIF | c.3446T>A (p.Leu1149Gln) | |
| X | g.74741112G>A | CA331301719 | NEXMIF | c.3445C>T (p.Leu1149=) | dbSNP |
| X | g.74741112G>C | CA413665904 | NEXMIF | c.3445C>G (p.Leu1149Val) | |
| X | g.74741112G= | CA2437590234 | NEXMIF | c.3445C= (p.Leu1149=) | |
| X | g.74741112G>T | CA413665905 | NEXMIF | c.3445C>A (p.Leu1149Met) | |
| X | g.74741113del | CA2821841654 | NEXMIF | c.3445del (p.Leu1149CysfsTer?) | |
| X | g.74741113G>A | CA10454943 | NEXMIF | c.3444C>T (p.Ser1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74741113G>C | CA413665912 | NEXMIF | c.3444C>G (p.Ser1148Arg) | |
| X | g.74741113G= | CA2437590235 | NEXMIF | c.3444C= (p.Ser1148=) | |
| X | g.74741113G>T | CA413665914 | NEXMIF | c.3444C>A (p.Ser1148Arg) | |
| X | g.74741114C>A | CA413665915 | NEXMIF | c.3443G>T (p.Ser1148Ile) | |
| X | g.74741114C>G | CA413665917 | NEXMIF | c.3443G>C (p.Ser1148Thr) | |
| X | g.74741114C>T | CA413665918 | NEXMIF | c.3443G>A (p.Ser1148Asn) | gnomAD v4 |
| X | g.74741115T>A | CA413665922 | NEXMIF | c.3442A>T (p.Ser1148Cys) | |
| X | g.74741115T>C | CA10454944 | NEXMIF | c.3442A>G (p.Ser1148Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74741115T>G | CA413665920 | NEXMIF | c.3442A>C (p.Ser1148Arg) | |
| X | g.74741115T= | CA2437590236 | NEXMIF | c.3442A= (p.Ser1148=) |