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 |
|---|---|---|---|---|---|
| 1 | g.54999221T>A | CA340470562 | BSND | c.35T>A (p.Ile12Asn) | |
| 1 | g.54999221T>C | CA116812 | BSND | c.35T>C (p.Ile12Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999221T>G | CA340470565 | BSND | c.35T>G (p.Ile12Ser) | |
| 1 | g.54999221T= | CA1141580809 | BSND | c.35T= (p.Ile12=) | |
| 1 | g.54999222T>A | CA417956521 | BSND | c.36T>A (p.Ile12=) | |
| 1 | g.54999222T>C | CA871196 | BSND | c.36T>C (p.Ile12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999222T>G | CA340470568 | BSND | c.36T>G (p.Ile12Met) | |
| 1 | g.54999222T= | CA1167959262 | BSND | c.36T= (p.Ile12=) | |
| 1 | g.54999223G>A | CA340470572 | BSND | c.37G>A (p.Val13Met) | |
| 1 | g.54999223G>C | CA340470574 | BSND | c.37G>C (p.Val13Leu) | |
| 1 | g.54999223G>T | CA340470576 | BSND | c.37G>T (p.Val13Leu) | |
| 1 | g.54999224T>A | CA340470579 | BSND | c.38T>A (p.Val13Glu) | |
| 1 | g.54999224T>C | CA340470583 | BSND | c.38T>C (p.Val13Ala) | |
| 1 | g.54999224T>G | CA340470581 | BSND | c.38T>G (p.Val13Gly) | |
| 1 | g.54999225G>A | CA417956525 | BSND | c.39G>A (p.Val13=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999225G>C | CA417956526 | BSND | c.39G>C (p.Val13=) | gnomAD v4 |
| 1 | g.54999225G= | CA1143370389 | BSND | c.39G= (p.Val13=) | |
| 1 | g.54999225G>T | CA871197 | BSND | c.39G>T (p.Val13=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999226C>A | CA340470587 | BSND | c.40C>A (p.Leu14Met) | |
| 1 | g.54999226C>G | CA340470588 | BSND | c.40C>G (p.Leu14Val) | |
| 1 | g.54999226C>T | CA417956527 | BSND | c.40C>T (p.Leu14=) | |
| 1 | g.54999227T>A | CA340470589 | BSND | c.41T>A (p.Leu14Gln) | |
| 1 | g.54999227T>C | CA340470590 | BSND | c.41T>C (p.Leu14Pro) | |
| 1 | g.54999227T>G | CA340470591 | BSND | c.41T>G (p.Leu14Arg) | |
| 1 | g.54999228G>A | CA417956528 | BSND | c.42G>A (p.Leu14=) | |
| 1 | g.54999228G>C | CA417956529 | BSND | c.42G>C (p.Leu14=) | |
| 1 | g.54999228G>T | CA417956530 | BSND | c.42G>T (p.Leu14=) | |
| 1 | g.54999229G>A | CA340470592 | BSND | c.43G>A (p.Gly15Arg) | dbSNP |
| 1 | g.54999229G>C | CA340470593 | BSND | c.43G>C (p.Gly15Arg) | |
| 1 | g.54999229G= | CA1167959263 | BSND | c.43G= (p.Gly15=) | |
| 1 | g.54999229G>T | CA340470594 | BSND | c.43G>T (p.Gly15Trp) | |
| 1 | g.54999230G>A | CA340470597 | BSND | c.44G>A (p.Gly15Glu) | gnomAD v4 |
| 1 | g.54999230G>C | CA340470596 | BSND | c.44G>C (p.Gly15Ala) | |
| 1 | g.54999230G>T | CA340470595 | BSND | c.44G>T (p.Gly15Val) | |
| 1 | g.54999231G>A | CA417956533 | BSND | c.45G>A (p.Gly15=) | ClinVar |
| 1 | g.54999231G>C | CA417956534 | BSND | c.45G>C (p.Gly15=) | |
| 1 | g.54999231G>T | CA417956532 | BSND | c.45G>T (p.Gly15=) | |
| 1 | g.54999231_54999232insATTTTCCTGCTGGCG | CA2645834263 | BSND | c.45_46insATTTTCCTGCTGGCG (p.Gly15_Leu16insIlePheLeuLeuAla) | gnomAD v4 |
| 1 | g.54999232C>A | CA340470598 | BSND | c.46C>A (p.Leu16Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999232C= | CA1167959264 | BSND | c.46C= (p.Leu16=) | |
| 1 | g.54999232C>G | CA340470599 | BSND | c.46C>G (p.Leu16Val) | |
| 1 | g.54999232C>T | CA340470600 | BSND | c.46C>T (p.Leu16Phe) | gnomAD v3 gnomAD v4 |
| 1 | g.54999233T>A | CA340470601 | BSND | c.47T>A (p.Leu16His) | |
| 1 | g.54999233T>C | CA340470602 | BSND | c.47T>C (p.Leu16Pro) | |
| 1 | g.54999233T>G | CA340470603 | BSND | c.47T>G (p.Leu16Arg) | |
| 1 | g.54999236del | CA2645834264 | BSND | c.50del (p.Phe17SerfsTer10) | gnomAD v4 |
| 1 | g.54999234T>A | CA417956537 | BSND | c.48T>A (p.Leu16=) | |
| 1 | g.54999234T>C | CA417956538 | BSND | c.48T>C (p.Leu16=) | |
| 1 | g.54999234T>G | CA417956539 | BSND | c.48T>G (p.Leu16=) | |
| 1 | g.54999235T>A | CA340470604 | BSND | c.49T>A (p.Phe17Ile) | |
| 1 | g.54999235T>C | CA340470605 | BSND | c.49T>C (p.Phe17Leu) | dbSNP |
| 1 | g.54999235T>G | CA340470606 | BSND | c.49T>G (p.Phe17Val) | |
| 1 | g.54999235T= | CA1167959265 | BSND | c.49T= (p.Phe17=) | |
| 1 | g.54999236T>A | CA340470607 | BSND | c.50T>A (p.Phe17Tyr) | |
| 1 | g.54999236T>C | CA340470608 | BSND | c.50T>C (p.Phe17Ser) | |
| 1 | g.54999236T>G | CA340470609 | BSND | c.50T>G (p.Phe17Cys) | |
| 1 | g.54999237C>A | CA340470610 | BSND | c.51C>A (p.Phe17Leu) | |
| 1 | g.54999237C>G | CA340470611 | BSND | c.51C>G (p.Phe17Leu) | |
| 1 | g.54999237C>T | CA417956540 | BSND | c.51C>T (p.Phe17=) | ClinVar dbSNP |
| 1 | g.54999238C>A | CA340470612 | BSND | c.52C>A (p.Leu18Met) | |
| 1 | g.54999238C= | CA1167959266 | BSND | c.52C= (p.Leu18=) | |
| 1 | g.54999238C>G | CA871198 | BSND | c.52C>G (p.Leu18Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999238C>T | CA417956544 | BSND | c.52C>T (p.Leu18=) | |
| 1 | g.54999239T>A | CA340470613 | BSND | c.53T>A (p.Leu18Gln) | |
| 1 | g.54999239T>C | CA340470614 | BSND | c.53T>C (p.Leu18Pro) | gnomAD v4 |
| 1 | g.54999239T>G | CA340470615 | BSND | c.53T>G (p.Leu18Arg) | gnomAD v4 |
| 1 | g.54999240G>A | CA417956545 | BSND | c.54G>A (p.Leu18=) | |
| 1 | g.54999240G>C | CA417956546 | BSND | c.54G>C (p.Leu18=) | |
| 1 | g.54999240G>T | CA417956547 | BSND | c.54G>T (p.Leu18=) | |
| 1 | g.54999241C>A | CA340470616 | BSND | c.55C>A (p.Leu19Met) | |
| 1 | g.54999241C= | CA1167959267 | BSND | c.55C= (p.Leu19=) | |
| 1 | g.54999241C>G | CA871199 | BSND | c.55C>G (p.Leu19Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999241C>T | CA417956549 | BSND | c.55C>T (p.Leu19=) | gnomAD v4 |
| 1 | g.54999242T>A | CA340470617 | BSND | c.56T>A (p.Leu19Gln) | |
| 1 | g.54999242T>C | CA871200 | BSND | c.56T>C (p.Leu19Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999242T>G | CA340470618 | BSND | c.56T>G (p.Leu19Arg) | |
| 1 | g.54999242T= | CA1148716657 | BSND | c.56T= (p.Leu19=) | |
| 1 | g.54999243G>A | CA871201 | BSND | c.57G>A (p.Leu19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999243G>C | CA417956552 | BSND | c.57G>C (p.Leu19=) | |
| 1 | g.54999243G= | CA1167959268 | BSND | c.57G= (p.Leu19=) | |
| 1 | g.54999243G>T | CA417956553 | BSND | c.57G>T (p.Leu19=) | |
| 1 | g.54999244G>A | CA340470619 | BSND | c.58G>A (p.Ala20Thr) | |
| 1 | g.54999244G>C | CA340470620 | BSND | c.58G>C (p.Ala20Pro) | |
| 1 | g.54999244G= | CA1167959269 | BSND | c.58G= (p.Ala20=) | |
| 1 | g.54999244G>T | CA340470621 | BSND | c.58G>T (p.Ala20Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999245C>A | CA340470623 | BSND | c.59C>A (p.Ala20Asp) | |
| 1 | g.54999245C>G | CA340470624 | BSND | c.59C>G (p.Ala20Gly) | |
| 1 | g.54999245C>T | CA340470622 | BSND | c.59C>T (p.Ala20Val) | gnomAD v4 |
| 1 | g.54999246C>A | CA417956554 | BSND | c.60C>A (p.Ala20=) | gnomAD v4 |
| 1 | g.54999246C>G | CA417956555 | BSND | c.60C>G (p.Ala20=) | dbSNP |
| 1 | g.54999246C>T | CA417956557 | BSND | c.60C>T (p.Ala20=) | gnomAD v4 |
| 1 | g.54999247C>A | CA340470626 | BSND | c.61C>A (p.Leu21Ile) | |
| 1 | g.54999247C>G | CA340470625 | BSND | c.61C>G (p.Leu21Val) | |
| 1 | g.54999247C>T | CA340470627 | BSND | c.61C>T (p.Leu21Phe) | |
| 1 | g.54999248T>A | CA340470628 | BSND | c.62T>A (p.Leu21His) | |
| 1 | g.54999248T>C | CA340470629 | BSND | c.62T>C (p.Leu21Pro) | |
| 1 | g.54999248T>G | CA340470630 | BSND | c.62T>G (p.Leu21Arg) | gnomAD v4 |
| 1 | g.54999249C>A | CA417956558 | BSND | c.63C>A (p.Leu21=) | |
| 1 | g.54999249C= | CA1141815975 | BSND | c.63C= (p.Leu21=) | |
| 1 | g.54999249C>G | CA417956559 | BSND | c.63C>G (p.Leu21=) | |
| 1 | g.54999249C>T | CA138604 | BSND | c.63C>T (p.Leu21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999250G>A | CA871202 | BSND | c.64G>A (p.Gly22Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999250G>C | CA871203 | BSND | c.64G>C (p.Gly22Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999250G= | CA1142029419 | BSND | c.64G= (p.Gly22=) | |
| 1 | g.54999250G>T | CA340470631 | BSND | c.64G>T (p.Gly22Cys) | |
| 1 | g.54999251G>A | CA871204 | BSND | c.65G>A (p.Gly22Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999251G>C | CA340470632 | BSND | c.65G>C (p.Gly22Ala) | |
| 1 | g.54999251G= | CA1147078078 | BSND | c.65G= (p.Gly22=) | |
| 1 | g.54999251G>T | CA340470633 | BSND | c.65G>T (p.Gly22Val) | |
| 1 | g.54999252T>A | CA417956565 | BSND | c.66T>A (p.Gly22=) | |
| 1 | g.54999252T>C | CA417956564 | BSND | c.66T>C (p.Gly22=) | ClinVar dbSNP |
| 1 | g.54999252T>G | CA417956563 | BSND | c.66T>G (p.Gly22=) | |
| 1 | g.54999253A>C | CA340470634 | BSND | c.67A>C (p.Thr23Pro) | |
| 1 | g.54999253A>G | CA340470635 | BSND | c.67A>G (p.Thr23Ala) | |
| 1 | g.54999253A>T | CA340470636 | BSND | c.67A>T (p.Thr23Ser) | |
| 1 | g.54999254C>A | CA340470637 | BSND | c.68C>A (p.Thr23Lys) | |
| 1 | g.54999254C= | CA1167959270 | BSND | c.68C= (p.Thr23=) | |
| 1 | g.54999254C>G | CA340470638 | BSND | c.68C>G (p.Thr23Arg) | |
| 1 | g.54999254C>T | CA871205 | BSND | c.68C>T (p.Thr23Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999255G>A | CA871206 | BSND | c.69G>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999255G>C | CA417956569 | BSND | c.69G>C (p.Thr23=) | |
| 1 | g.54999255G= | CA1143610060 | BSND | c.69G= (p.Thr23=) | |
| 1 | g.54999255G>T | CA417956568 | BSND | c.69G>T (p.Thr23=) | |
| 1 | g.54999256T>A | CA340470639 | BSND | c.70T>A (p.Phe24Ile) | dbSNP |
| 1 | g.54999256T>C | CA340470640 | BSND | c.70T>C (p.Phe24Leu) | |
| 1 | g.54999256T>G | CA340470641 | BSND | c.70T>G (p.Phe24Val) | |
| 1 | g.54999257T>A | CA340470642 | BSND | c.71T>A (p.Phe24Tyr) | |
| 1 | g.54999257T>C | CA340470643 | BSND | c.71T>C (p.Phe24Ser) | |
| 1 | g.54999257T>G | CA340470644 | BSND | c.71T>G (p.Phe24Cys) | |
| 1 | g.54999258C>A | CA340470645 | BSND | c.72C>A (p.Phe24Leu) | |
| 1 | g.54999258C= | CA1167959271 | BSND | c.72C= (p.Phe24=) | |
| 1 | g.54999258C>G | CA340470646 | BSND | c.72C>G (p.Phe24Leu) | |
| 1 | g.54999258C>T | CA871207 | BSND | c.72C>T (p.Phe24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999259C>A | CA340470648 | BSND | c.73C>A (p.Leu25Ile) | |
| 1 | g.54999259C>G | CA340470649 | BSND | c.73C>G (p.Leu25Val) | |
| 1 | g.54999259C>T | CA340470647 | BSND | c.73C>T (p.Leu25Phe) | gnomAD v4 |
| 1 | g.54999260T>A | CA340470650 | BSND | c.74T>A (p.Leu25His) | |
| 1 | g.54999260T>C | CA340470651 | BSND | c.74T>C (p.Leu25Pro) | COSMIC |
| 1 | g.54999260T>G | CA340470652 | BSND | c.74T>G (p.Leu25Arg) | |
| 1 | g.54999261C>A | CA417956573 | BSND | c.75C>A (p.Leu25=) | |
| 1 | g.54999261C= | CA1167959272 | BSND | c.75C= (p.Leu25=) | |
| 1 | g.54999261C>G | CA417956574 | BSND | c.75C>G (p.Leu25=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999261C>T | CA871208 | BSND | c.75C>T (p.Leu25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999262A>C | CA340470653 | BSND | c.76A>C (p.Met26Leu) | |
| 1 | g.54999262A>G | CA340470654 | BSND | c.76A>G (p.Met26Val) | |
| 1 | g.54999262A>T | CA340470655 | BSND | c.76A>T (p.Met26Leu) | |
| 1 | g.54999263T>A | CA340470656 | BSND | c.77T>A (p.Met26Lys) | COSMIC |
| 1 | g.54999263T>C | CA340470657 | BSND | c.77T>C (p.Met26Thr) | |
| 1 | g.54999263T>G | CA340470658 | BSND | c.77T>G (p.Met26Arg) | |
| 1 | g.54999264G>A | CA340470659 | BSND | c.78G>A (p.Met26Ile) | |
| 1 | g.54999264G>C | CA340470660 | BSND | c.78G>C (p.Met26Ile) | |
| 1 | g.54999264G>T | CA340470661 | BSND | c.78G>T (p.Met26Ile) | |
| 1 | g.54999265A>C | CA340470664 | BSND | c.79A>C (p.Ser27Arg) | |
| 1 | g.54999265A>G | CA340470663 | BSND | c.79A>G (p.Ser27Gly) | |
| 1 | g.54999265A>T | CA340470662 | BSND | c.79A>T (p.Ser27Cys) | |
| 1 | g.54999266G>A | CA340470665 | BSND | c.80G>A (p.Ser27Asn) | gnomAD v4 |
| 1 | g.54999266G>C | CA340470666 | BSND | c.80G>C (p.Ser27Thr) | |
| 1 | g.54999266G>T | CA340470667 | BSND | c.80G>T (p.Ser27Ile) | |
| 1 | g.54999267C>A | CA340470668 | BSND | c.81C>A (p.Ser27Arg) | |
| 1 | g.54999267C>G | CA340470669 | BSND | c.81C>G (p.Ser27Arg) | gnomAD v4 |
| 1 | g.54999267C>T | CA417956575 | BSND | c.81C>T (p.Ser27=) | |
| 1 | g.54999268C>A | CA340470670 | BSND | c.82C>A (p.His28Asn) | |
| 1 | g.54999268C>G | CA340470671 | BSND | c.82C>G (p.His28Asp) | gnomAD v4 |
| 1 | g.54999268C>T | CA340470672 | BSND | c.82C>T (p.His28Tyr) | |
| 1 | g.54999269A= | CA1167959273 | BSND | c.83A= (p.His28=) | |
| 1 | g.54999269A>C | CA340470673 | BSND | c.83A>C (p.His28Pro) | |
| 1 | g.54999269A>G | CA340470674 | BSND | c.83A>G (p.His28Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999269A>T | CA871209 | BSND | c.83A>T (p.His28Leu) | dbSNP ExAC |
| 1 | g.54999270T>A | CA340470675 | BSND | c.84T>A (p.His28Gln) | |
| 1 | g.54999270T>C | CA417956576 | BSND | c.84T>C (p.His28=) | ClinVar dbSNP |
| 1 | g.54999270T>G | CA340470676 | BSND | c.84T>G (p.His28Gln) | |
| 1 | g.54999271G>A | CA340470679 | BSND | c.85G>A (p.Asp29Asn) | |
| 1 | g.54999271G>C | CA340470678 | BSND | c.85G>C (p.Asp29His) | |
| 1 | g.54999271G>T | CA340470677 | BSND | c.85G>T (p.Asp29Tyr) | |
| 1 | g.54999272A>C | CA340470680 | BSND | c.86A>C (p.Asp29Ala) | |
| 1 | g.54999272A>G | CA340470682 | BSND | c.86A>G (p.Asp29Gly) | |
| 1 | g.54999272A>T | CA340470681 | BSND | c.86A>T (p.Asp29Val) | |
| 1 | g.54999273T>A | CA340470683 | BSND | c.87T>A (p.Asp29Glu) | |
| 1 | g.54999273T>C | CA871210 | BSND | c.87T>C (p.Asp29=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999273T>G | CA340470684 | BSND | c.87T>G (p.Asp29Glu) | |
| 1 | g.54999273T= | CA1167959274 | BSND | c.87T= (p.Asp29=) | |
| 1 | g.54999274C>A | CA417956577 | BSND | c.88C>A (p.Arg30=) | |
| 1 | g.54999274C= | CA1167959275 | BSND | c.88C= (p.Arg30=) | |
| 1 | g.54999274C>G | CA340470685 | BSND | c.88C>G (p.Arg30Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999274C>T | CA871211 | BSND | c.88C>T (p.Arg30Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999275G>A | CA871212 | BSND | c.89G>A (p.Arg30Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999275G>C | CA340470687 | BSND | c.89G>C (p.Arg30Pro) | |
| 1 | g.54999275G= | CA1143462176 | BSND | c.89G= (p.Arg30=) | |
| 1 | g.54999275G>T | CA340470686 | BSND | c.89G>T (p.Arg30Leu) | |
| 1 | g.54999276G>A | CA417956578 | BSND | c.90G>A (p.Arg30=) | |
| 1 | g.54999276G>C | CA417956579 | BSND | c.90G>C (p.Arg30=) | |
| 1 | g.54999276G>T | CA417956580 | BSND | c.90G>T (p.Arg30=) | |
| 1 | g.54999277C>A | CA340470688 | BSND | c.91C>A (p.Pro31Thr) | |
| 1 | g.54999277C= | CA1147281666 | BSND | c.91C= (p.Pro31=) | |
| 1 | g.54999277C>G | CA871213 | BSND | c.91C>G (p.Pro31Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999277C>T | CA340470689 | BSND | c.91C>T (p.Pro31Ser) | |
| 1 | g.54999278C>A | CA340470690 | BSND | c.92C>A (p.Pro31His) | |
| 1 | g.54999278C>G | CA340470691 | BSND | c.92C>G (p.Pro31Arg) | |
| 1 | g.54999278C>T | CA340470692 | BSND | c.92C>T (p.Pro31Leu) | gnomAD v4 |
| 1 | g.54999279C>A | CA417956581 | BSND | c.93C>A (p.Pro31=) | |
| 1 | g.54999279C>G | CA417956582 | BSND | c.93C>G (p.Pro31=) | gnomAD v4 |
| 1 | g.54999279C>T | CA417956583 | BSND | c.93C>T (p.Pro31=) | |
| 1 | g.54999280C>A | CA340470693 | BSND | c.94C>A (p.Gln32Lys) | |
| 1 | g.54999280C= | CA1167959276 | BSND | c.94C= (p.Gln32=) | |
| 1 | g.54999280C>G | CA340470695 | BSND | c.94C>G (p.Gln32Glu) | |
| 1 | g.54999280C>T | CA340470694 | BSND | c.94C>T (p.Gln32Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999281A>C | CA340470696 | BSND | c.95A>C (p.Gln32Pro) | |
| 1 | g.54999281A>G | CA340470697 | BSND | c.95A>G (p.Gln32Arg) | |
| 1 | g.54999281A>T | CA340470698 | BSND | c.95A>T (p.Gln32Leu) | |
| 1 | g.54999282G>A | CA417956584 | BSND | c.96G>A (p.Gln32=) | |
| 1 | g.54999282G>C | CA340470699 | BSND | c.96G>C (p.Gln32His) | |
| 1 | g.54999282G>T | CA340470700 | BSND | c.96G>T (p.Gln32His) | gnomAD v4 |
| 1 | g.54999283G>A | CA871215 | BSND | c.97G>A (p.Val33Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.54999283G>C | CA871214 | BSND | c.97G>C (p.Val33Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999283G= | CA1167959277 | BSND | c.97G= (p.Val33=) | |
| 1 | g.54999283G>T | CA340470701 | BSND | c.97G>T (p.Val33Phe) | |
| 1 | g.54999284T>A | CA340470702 | BSND | c.98T>A (p.Val33Asp) | |
| 1 | g.54999284T>C | CA340470703 | BSND | c.98T>C (p.Val33Ala) | |
| 1 | g.54999284T>G | CA340470704 | BSND | c.98T>G (p.Val33Gly) | |
| 1 | g.54999285C>A | CA417956585 | BSND | c.99C>A (p.Val33=) | |
| 1 | g.54999285C= | CA1167959278 | BSND | c.99C= (p.Val33=) | |
| 1 | g.54999285C>G | CA871216 | BSND | c.99C>G (p.Val33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999285C>T | CA417956586 | BSND | c.99C>T (p.Val33=) | |
| 1 | g.54999286T>A | CA340470707 | BSND | c.100T>A (p.Tyr34Asn) | |
| 1 | g.54999286T>C | CA340470705 | BSND | c.100T>C (p.Tyr34His) | |
| 1 | g.54999286T>G | CA340470706 | BSND | c.100T>G (p.Tyr34Asp) | |
| 1 | g.54999286_54999287insTC | CA2537148652 | BSND | c.100_101insTC (p.Tyr34PhefsTer13) | |
| 1 | g.54999287A>C | CA340470708 | BSND | c.101A>C (p.Tyr34Ser) | |
| 1 | g.54999287A>G | CA340470709 | BSND | c.101A>G (p.Tyr34Cys) | |
| 1 | g.54999287A>T | CA340470710 | BSND | c.101A>T (p.Tyr34Phe) | |
| 1 | g.54999288C>A | CA340470712 | BSND | c.102C>A (p.Tyr34Ter) | |
| 1 | g.54999288C= | CA1141802094 | BSND | c.102C= (p.Tyr34=) | |
| 1 | g.54999288C>G | CA340470711 | BSND | c.102C>G (p.Tyr34Ter) | |
| 1 | g.54999288C>T | CA871217 | BSND | c.102C>T (p.Tyr34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999289G>A | CA22764156 | BSND | c.103G>A (p.Gly35Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999289G>C | CA22764181 | BSND | c.103G>C (p.Gly35Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999289G= | CA1167959279 | BSND | c.103G= (p.Gly35=) | |
| 1 | g.54999289G>T | CA340470713 | BSND | c.103G>T (p.Gly35Cys) | |
| 1 | g.54999290G>A | CA340470714 | BSND | c.104G>A (p.Gly35Asp) | |
| 1 | g.54999290G>C | CA340470715 | BSND | c.104G>C (p.Gly35Ala) | |
| 1 | g.54999290G>T | CA340470716 | BSND | c.104G>T (p.Gly35Val) | |
| 1 | g.54999291C>A | CA417956587 | BSND | c.105C>A (p.Gly35=) | |
| 1 | g.54999291C>G | CA417956588 | BSND | c.105C>G (p.Gly35=) | |
| 1 | g.54999291C>T | CA417956589 | BSND | c.105C>T (p.Gly35=) | |
| 1 | g.54999292A>C | CA340470717 | BSND | c.106A>C (p.Thr36Pro) | gnomAD v4 |
| 1 | g.54999292A>G | CA340470719 | BSND | c.106A>G (p.Thr36Ala) | COSMIC |
| 1 | g.54999292A>T | CA340470718 | BSND | c.106A>T (p.Thr36Ser) | |
| 1 | g.54999293C>A | CA340470720 | BSND | c.107C>A (p.Thr36Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999293C= | CA1167959280 | BSND | c.107C= (p.Thr36=) | |
| 1 | g.54999293C>G | CA340470721 | BSND | c.107C>G (p.Thr36Ser) | |
| 1 | g.54999293C>T | CA871218 | BSND | c.107C>T (p.Thr36Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999294C>A | CA417956591 | BSND | c.108C>A (p.Thr36=) | |
| 1 | g.54999294C= | CA1167959281 | BSND | c.108C= (p.Thr36=) | |
| 1 | g.54999294C>G | CA417956592 | BSND | c.108C>G (p.Thr36=) | |
| 1 | g.54999294C>T | CA417956590 | BSND | c.108C>T (p.Thr36=) | dbSNP |
| 1 | g.54999295T>A | CA871219 | BSND | c.109T>A (p.Phe37Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999295T>C | CA340470722 | BSND | c.109T>C (p.Phe37Leu) | |
| 1 | g.54999295T>G | CA340470723 | BSND | c.109T>G (p.Phe37Val) | |
| 1 | g.54999295T= | CA1143872903 | BSND | c.109T= (p.Phe37=) | |
| 1 | g.54999296T>A | CA340470724 | BSND | c.110T>A (p.Phe37Tyr) | |
| 1 | g.54999296T>C | CA340470725 | BSND | c.110T>C (p.Phe37Ser) | |
| 1 | g.54999296T>G | CA340470726 | BSND | c.110T>G (p.Phe37Cys) | |
| 1 | g.54999297C>A | CA340470727 | BSND | c.111C>A (p.Phe37Leu) | |
| 1 | g.54999297C= | CA1167959282 | BSND | c.111C= (p.Phe37=) | |
| 1 | g.54999297C>G | CA340470728 | BSND | c.111C>G (p.Phe37Leu) | |
| 1 | g.54999297C>T | CA871220 | BSND | c.111C>T (p.Phe37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999298T>A | CA340470731 | BSND | c.112T>A (p.Tyr38Asn) | |
| 1 | g.54999298T>C | CA340470730 | BSND | c.112T>C (p.Tyr38His) | |
| 1 | g.54999298T>G | CA340470729 | BSND | c.112T>G (p.Tyr38Asp) | |
| 1 | g.54999299A= | CA1144135709 | BSND | c.113A= (p.Tyr38=) | |
| 1 | g.54999299A>C | CA340470732 | BSND | c.113A>C (p.Tyr38Ser) | |
| 1 | g.54999299A>G | CA871221 | BSND | c.113A>G (p.Tyr38Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999299A>T | CA340470733 | BSND | c.113A>T (p.Tyr38Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999300T>A | CA340470734 | BSND | c.114T>A (p.Tyr38Ter) | |
| 1 | g.54999300T>C | CA417956593 | BSND | c.114T>C (p.Tyr38=) | |
| 1 | g.54999300T>G | CA340470735 | BSND | c.114T>G (p.Tyr38Ter) | |
| 1 | g.54999301G>A | CA340470736 | BSND | c.115G>A (p.Ala39Thr) | |
| 1 | g.54999301G>C | CA340470738 | BSND | c.115G>C (p.Ala39Pro) | |
| 1 | g.54999301G>T | CA340470737 | BSND | c.115G>T (p.Ala39Ser) | |
| 1 | g.54999302C>A | CA340470739 | BSND | c.116C>A (p.Ala39Asp) | gnomAD v4 |
| 1 | g.54999302C>G | CA340470740 | BSND | c.116C>G (p.Ala39Gly) | |
| 1 | g.54999302C>T | CA340470741 | BSND | c.116C>T (p.Ala39Val) | |
| 1 | g.54999303C>A | CA417956594 | BSND | c.117C>A (p.Ala39=) | |
| 1 | g.54999303C= | CA1148278021 | BSND | c.117C= (p.Ala39=) | |
| 1 | g.54999303C>G | CA417956595 | BSND | c.117C>G (p.Ala39=) | |
| 1 | g.54999303C>T | CA871222 | BSND | c.117C>T (p.Ala39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999304A= | CA1167959283 | BSND | c.118A= (p.Met40=) | |
| 1 | g.54999304A>C | CA340470742 | BSND | c.118A>C (p.Met40Leu) | |
| 1 | g.54999304A>G | CA340470743 | BSND | c.118A>G (p.Met40Val) | dbSNP |
| 1 | g.54999304A>T | CA340470744 | BSND | c.118A>T (p.Met40Leu) | |
| 1 | g.54999305T>A | CA340470745 | BSND | c.119T>A (p.Met40Lys) | |
| 1 | g.54999305T>C | CA340470746 | BSND | c.119T>C (p.Met40Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999305T>G | CA340470747 | BSND | c.119T>G (p.Met40Arg) | |
| 1 | g.54999305T= | CA1167959284 | BSND | c.119T= (p.Met40=) | |
| 1 | g.54999306G>A | CA871223 | BSND | c.120G>A (p.Met40Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999306G>C | CA340470749 | BSND | c.120G>C (p.Met40Ile) | |
| 1 | g.54999306G= | CA1167959285 | BSND | c.120G= (p.Met40=) | |
| 1 | g.54999306G>T | CA340470748 | BSND | c.120G>T (p.Met40Ile) | |
| 1 | g.54999307G>A | CA340470750 | BSND | c.121G>A (p.Gly41Ser) | dbSNP |
| 1 | g.54999307G>C | CA340470751 | BSND | c.121G>C (p.Gly41Arg) | |
| 1 | g.54999307G= | CA1167959286 | BSND | c.121G= (p.Gly41=) | |
| 1 | g.54999307G>T | CA340470752 | BSND | c.121G>T (p.Gly41Cys) | |
| 1 | g.54999308G>A | CA340470753 | BSND | c.122G>A (p.Gly41Asp) | |
| 1 | g.54999308G>C | CA340470754 | BSND | c.122G>C (p.Gly41Ala) | |
| 1 | g.54999308G>T | CA340470755 | BSND | c.122G>T (p.Gly41Val) | |
| 1 | g.54999309C>A | CA417956597 | BSND | c.123C>A (p.Gly41=) | |
| 1 | g.54999309C= | CA1167959287 | BSND | c.123C= (p.Gly41=) | |
| 1 | g.54999309C>G | CA417956598 | BSND | c.123C>G (p.Gly41=) | |
| 1 | g.54999309C>T | CA417956596 | BSND | c.123C>T (p.Gly41=) | |
| 1 | g.54999310A>C | CA340470756 | BSND | c.124A>C (p.Ser42Arg) | |
| 1 | g.54999310A>G | CA340470757 | BSND | c.124A>G (p.Ser42Gly) | |
| 1 | g.54999310A>T | CA340470758 | BSND | c.124A>T (p.Ser42Cys) | |
| 1 | g.54999310dup | CA1167959288 | BSND | c.124dup (p.Ser42LysfsTer25) | dbSNP |
| 1 | g.54999311G>A | CA340470759 | BSND | c.125G>A (p.Ser42Asn) | |
| 1 | g.54999311G>C | CA340470760 | BSND | c.125G>C (p.Ser42Thr) | |
| 1 | g.54999311G>T | CA340470761 | BSND | c.125G>T (p.Ser42Ile) | |
| 1 | g.54999312C>A | CA340470763 | BSND | c.126C>A (p.Ser42Arg) | |
| 1 | g.54999312C= | CA1141599671 | BSND | c.126C= (p.Ser42=) | |
| 1 | g.54999312C>G | CA340470762 | BSND | c.126C>G (p.Ser42Arg) | |
| 1 | g.54999312C>T | CA871224 | BSND | c.126C>T (p.Ser42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999313G>A | CA138597 | BSND | c.127G>A (p.Val43Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999313G>C | CA340470764 | BSND | c.127G>C (p.Val43Leu) | |
| 1 | g.54999313G= | CA1140526148 | BSND | c.127G= (p.Val43=) | |
| 1 | g.54999313G>T | CA340470765 | BSND | c.127G>T (p.Val43Phe) | |
| 1 | g.54999314T>A | CA340470766 | BSND | c.128T>A (p.Val43Asp) | |
| 1 | g.54999314T>C | CA340470767 | BSND | c.128T>C (p.Val43Ala) | |
| 1 | g.54999314T>G | CA340470768 | BSND | c.128T>G (p.Val43Gly) | |
| 1 | g.54999315C>A | CA417956600 | BSND | c.129C>A (p.Val43=) | |
| 1 | g.54999315C>G | CA417956601 | BSND | c.129C>G (p.Val43=) | |
| 1 | g.54999315C>T | CA417956599 | BSND | c.129C>T (p.Val43=) | |
| 1 | g.54999316A>C | CA340470771 | BSND | c.130A>C (p.Met44Leu) | |
| 1 | g.54999316A>G | CA340470770 | BSND | c.130A>G (p.Met44Val) | gnomAD v4 COSMIC |
| 1 | g.54999316A>T | CA340470769 | BSND | c.130A>T (p.Met44Leu) | |
| 1 | g.54999317T>A | CA340470772 | BSND | c.131T>A (p.Met44Lys) | |
| 1 | g.54999317T>C | CA340470773 | BSND | c.131T>C (p.Met44Thr) | |
| 1 | g.54999317T>G | CA340470774 | BSND | c.131T>G (p.Met44Arg) | |
| 1 | g.54999318G>A | CA340470775 | BSND | c.132G>A (p.Met44Ile) | |
| 1 | g.54999318G>C | CA340470776 | BSND | c.132G>C (p.Met44Ile) | |
| 1 | g.54999318G>T | CA340470777 | BSND | c.132G>T (p.Met44Ile) | gnomAD v4 |
| 1 | g.54999319G>A | CA340470778 | BSND | c.133G>A (p.Val45Met) | |
| 1 | g.54999319G>C | CA340470780 | BSND | c.133G>C (p.Val45Leu) | |
| 1 | g.54999319G>T | CA340470779 | BSND | c.133G>T (p.Val45Leu) | |
| 1 | g.54999320T>A | CA340470781 | BSND | c.134T>A (p.Val45Glu) | |
| 1 | g.54999320T>C | CA340470782 | BSND | c.134T>C (p.Val45Ala) | gnomAD v4 |
| 1 | g.54999320T>G | CA340470783 | BSND | c.134T>G (p.Val45Gly) | |
| 1 | g.54999321G>A | CA417956604 | BSND | c.135G>A (p.Val45=) | ClinVar dbSNP |
| 1 | g.54999321G>C | CA417956602 | BSND | c.135G>C (p.Val45=) | |
| 1 | g.54999321G>T | CA417956603 | BSND | c.135G>T (p.Val45=) | |
| 1 | g.54999321_54999322del | CA2645834265 | BSND | c.135_136del (p.Ile46ArgfsTer20) | gnomAD v4 |