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 |
|---|---|---|---|---|---|
| 5 | g.70925151_70925158dup | CA913189519 | SMN1 | c.48_55dup (p.Val19GlyfsTer24) | ClinVar dbSNP |
| 5 | g.70925157C>A | CA444962365 | SMN1 | c.54C>A (p.Ser18=) | |
| 5 | g.70925157C>G | CA444962366 | SMN1 | c.54C>G (p.Ser18=) | |
| 5 | g.70925157C>T | CA444962369 | SMN1 | c.54C>T (p.Ser18=) | |
| 5 | g.70925158G>A | CA360089713 | SMN1 | c.55G>A (p.Val19Met) | |
| 5 | g.70925158G>C | CA360089712 | SMN1 | c.55G>C (p.Val19Leu) | |
| 5 | g.70925158G>T | CA360089711 | SMN1 | c.55G>T (p.Val19Leu) | |
| 5 | g.70925159del | CA2695204536 | SMN1 | c.56del (p.Val19GlyfsTer21) | |
| 5 | g.70925159T>A | CA360089714 | SMN1 | c.56T>A (p.Val19Glu) | |
| 5 | g.70925159T>C | CA360089718 | SMN1 | c.56T>C (p.Val19Ala) | |
| 5 | g.70925159T>G | CA360089716 | SMN1 | c.56T>G (p.Val19Gly) | |
| 5 | g.70925160G>A | CA444962391 | SMN1 | c.57G>A (p.Val19=) | |
| 5 | g.70925160G>C | CA444962393 | SMN1 | c.57G>C (p.Val19=) | |
| 5 | g.70925160G>T | CA444962395 | SMN1 | c.57G>T (p.Val19=) | |
| 5 | g.70925161C>A | CA360089720 | SMN1 | c.58C>A (p.Leu20Met) | |
| 5 | g.70925161C>G | CA360089721 | SMN1 | c.58C>G (p.Leu20Val) | |
| 5 | g.70925161C>T | CA444962401 | SMN1 | c.58C>T (p.Leu20=) | |
| 5 | g.70925162T>A | CA360089724 | SMN1 | c.59T>A (p.Leu20Gln) | |
| 5 | g.70925162T>C | CA360089727 | SMN1 | c.59T>C (p.Leu20Pro) | |
| 5 | g.70925162T>G | CA360089726 | SMN1 | c.59T>G (p.Leu20Arg) | |
| 5 | g.70925163G>A | CA444962413 | SMN1 | c.60G>A (p.Leu20=) | gnomAD v4 |
| 5 | g.70925163G>C | CA444962416 | SMN1 | c.60G>C (p.Leu20=) | |
| 5 | g.70925163G>T | CA444962420 | SMN1 | c.60G>T (p.Leu20=) | |
| 5 | g.70925164T>A | CA360089730 | SMN1 | c.61T>A (p.Phe21Ile) | |
| 5 | g.70925164T>C | CA360089732 | SMN1 | c.61T>C (p.Phe21Leu) | |
| 5 | g.70925164T>G | CA360089731 | SMN1 | c.61T>G (p.Phe21Val) | gnomAD v4 |
| 5 | g.70925165T>A | CA360089734 | SMN1 | c.62T>A (p.Phe21Tyr) | |
| 5 | g.70925165T>C | CA360089736 | SMN1 | c.62T>C (p.Phe21Ser) | COSMIC |
| 5 | g.70925165T>G | CA360089738 | SMN1 | c.62T>G (p.Phe21Cys) | |
| 5 | g.70925166C>A | CA360089740 | SMN1 | c.63C>A (p.Phe21Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.70925166C= | CA1554170660 | SMN1 | c.63C= (p.Phe21=) | |
| 5 | g.70925166C>G | CA360089741 | SMN1 | c.63C>G (p.Phe21Leu) | gnomAD v4 |
| 5 | g.70925166C>T | CA444962446 | SMN1 | c.63C>T (p.Phe21=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.70925167C>A | CA444962451 | SMN1 | c.64C>A (p.Arg22=) | |
| 5 | g.70925167C>G | CA360089743 | SMN1 | c.64C>G (p.Arg22Gly) | |
| 5 | g.70925167C>T | CA360089745 | SMN1 | c.64C>T (p.Arg22Trp) | |
| 5 | g.70925168G>A | CA360089747 | SMN1 | c.65G>A (p.Arg22Gln) | |
| 5 | g.70925168G>C | CA360089749 | SMN1 | c.65G>C (p.Arg22Pro) | |
| 5 | g.70925168G>T | CA360089750 | SMN1 | c.65G>T (p.Arg22Leu) | |
| 5 | g.70925169G>A | CA444962467 | SMN1 | c.66G>A (p.Arg22=) | |
| 5 | g.70925169G>C | CA444962476 | SMN1 | c.66G>C (p.Arg22=) | |
| 5 | g.70925169G>T | CA444962470 | SMN1 | c.66G>T (p.Arg22=) | |
| 5 | g.70925170C>A | CA360089758 | SMN1 | c.67C>A (p.Arg23Ser) | |
| 5 | g.70925170C>G | CA360089756 | SMN1 | c.67C>G (p.Arg23Gly) | |
| 5 | g.70925170C>T | CA360089754 | SMN1 | c.67C>T (p.Arg23Cys) | |
| 5 | g.70925171G>A | CA360089760 | SMN1 | c.68G>A (p.Arg23His) | |
| 5 | g.70925171G>C | CA360089762 | SMN1 | c.68G>C (p.Arg23Pro) | |
| 5 | g.70925171G>T | CA360089764 | SMN1 | c.68G>T (p.Arg23Leu) | |
| 5 | g.70925172C>A | CA444962516 | SMN1 | c.69C>A (p.Arg23=) | |
| 5 | g.70925172C>G | CA444962519 | SMN1 | c.69C>G (p.Arg23=) | |
| 5 | g.70925172C>T | CA444962521 | SMN1 | c.69C>T (p.Arg23=) | |
| 5 | g.70925173G>A | CA360089766 | SMN1 | c.70G>A (p.Gly24Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.70925173G>C | CA360089768 | SMN1 | c.70G>C (p.Gly24Arg) | |
| 5 | g.70925173G= | CA1554170661 | SMN1 | c.70G= (p.Gly24=) | |
| 5 | g.70925173G>T | CA360089770 | SMN1 | c.70G>T (p.Gly24Cys) | |
| 5 | g.70925174G>A | CA360089772 | SMN1 | c.71G>A (p.Gly24Asp) | gnomAD v4 |
| 5 | g.70925174G>C | CA360089774 | SMN1 | c.71G>C (p.Gly24Ala) | |
| 5 | g.70925174G>T | CA360089776 | SMN1 | c.71G>T (p.Gly24Val) | |
| 5 | g.70925175C>A | CA444962544 | SMN1 | c.72C>A (p.Gly24=) | |
| 5 | g.70925175C>G | CA444962548 | SMN1 | c.72C>G (p.Gly24=) | |
| 5 | g.70925175C>T | CA444962551 | SMN1 | c.72C>T (p.Gly24=) | gnomAD v4 |
| 5 | g.70925176A>C | CA360089779 | SMN1 | c.73A>C (p.Thr25Pro) | |
| 5 | g.70925176A>G | CA360089780 | SMN1 | c.73A>G (p.Thr25Ala) | |
| 5 | g.70925176A>T | CA360089781 | SMN1 | c.73A>T (p.Thr25Ser) | |
| 5 | g.70925177C>A | CA360089786 | SMN1 | c.74C>A (p.Thr25Lys) | |
| 5 | g.70925177C>G | CA360089788 | SMN1 | c.74C>G (p.Thr25Arg) | |
| 5 | g.70925177C>T | CA360089784 | SMN1 | c.74C>T (p.Thr25Ile) | |
| 5 | g.70925178A>C | CA444962567 | SMN1 | c.75A>C (p.Thr25=) | |
| 5 | g.70925178A>G | CA444962570 | SMN1 | c.75A>G (p.Thr25=) | gnomAD v4 |
| 5 | g.70925178A>T | CA444962571 | SMN1 | c.75A>T (p.Thr25=) | |
| 5 | g.70925179G>A | CA360089789 | SMN1 | c.76G>A (p.Gly26Ser) | |
| 5 | g.70925179G>C | CA360089791 | SMN1 | c.76G>C (p.Gly26Arg) | |
| 5 | g.70925179G>T | CA360089793 | SMN1 | c.76G>T (p.Gly26Cys) | |
| 5 | g.70925180G>A | CA360089795 | SMN1 | c.77G>A (p.Gly26Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.70925180G>C | CA360089797 | SMN1 | c.77G>C (p.Gly26Ala) | |
| 5 | g.70925180G= | CA1554170662 | SMN1 | c.77G= (p.Gly26=) | |
| 5 | g.70925180G>T | CA360089798 | SMN1 | c.77G>T (p.Gly26Val) | |
| 5 | g.70925181C>A | CA444962589 | SMN1 | c.78C>A (p.Gly26=) | |
| 5 | g.70925181C>G | CA444962590 | SMN1 | c.78C>G (p.Gly26=) | |
| 5 | g.70925181C>T | CA444962591 | SMN1 | c.78C>T (p.Gly26=) | |
| 5 | g.70925182C>A | CA360089804 | SMN1 | c.79C>A (p.Gln27Lys) | |
| 5 | g.70925182C>G | CA360089800 | SMN1 | c.79C>G (p.Gln27Glu) | |
| 5 | g.70925182C>T | CA360089802 | SMN1 | c.79C>T (p.Gln27Ter) | |
| 5 | g.70925183A>C | CA360089806 | SMN1 | c.80A>C (p.Gln27Pro) | |
| 5 | g.70925183A>G | CA360089808 | SMN1 | c.80A>G (p.Gln27Arg) | |
| 5 | g.70925183A>T | CA360089811 | SMN1 | c.80A>T (p.Gln27Leu) | |
| 5 | g.70925184G>A | CA444962613 | SMN1 | c.81G>A (p.Gln27=) | dbSNP |
| 5 | g.70925184G>C | CA360089813 | SMN1 | c.81G>C (p.Gln27His) | |
| 5 | g.70925184G= | CA1554170663 | SMN1 | c.81G= (p.Gln27=) | |
| 5 | g.70925184G>T | CA360089815 | SMN1 | c.81G>T (p.Gln27His) | |
| 5 | g.70925185dup | CA2695204537 | SMN1 | c.81+1dup | |
| 5 | g.70925185G>A | CA360089817 | SMN1 | c.81+1G>A (n.81+1G>A) | gnomAD v4 |
| 5 | g.70925185G>C | CA360089821 | SMN1 | c.81+1G>C (n.81+1G>C) | gnomAD v4 |
| 5 | g.70925185G>T | CA360089819 | SMN1 | c.81+1G>T (n.81+1G>T) | |
| 5 | g.70925186T>A | CA360089823 | SMN1 | c.81+2T>A (n.81+2T>A) | gnomAD v4 |
| 5 | g.70925186T>C | CA360089825 | SMN1 | c.81+2T>C (n.81+2T>C) | |
| 5 | g.70925186T>G | CA360089826 | SMN1 | c.81+2T>G (n.81+2T>G) | |
| 5 | g.70925188A>C | CA2674146545 | SMN1 | c.81+4A>C (n.81+4A>C) | gnomAD v4 |
| 5 | g.70925189G>T | CA2573050868 | SMN1 | c.81+5G>T (n.81+5G>T) | gnomAD v4 |
| 5 | g.70925190G>A | CA2674146546 | SMN1 | c.81+6G>A (n.81+6G>A) | gnomAD v4 |
| 5 | g.70925197C>T | CA2674146547 | SMN1 | c.81+13C>T (n.81+13C>T) | gnomAD v4 |
| 5 | g.70925199A>G | CA1077295794 | SMN1 | c.81+15A>G (n.81+15A>G) | gnomAD v3 gnomAD v4 |
| 5 | g.70925208T>G | CA2766897667 | SMN1 | c.81+24T>G (n.81+24T>G) | |
| 5 | g.70925210C>A | CA2674146548 | SMN1 | c.81+26C>A (n.81+26C>A) | gnomAD v4 |
| 5 | g.70925211C>T | CA2766897669 | SMN1 | c.81+27C>T (n.81+27C>T) | |
| 5 | g.70925213A= | CA1554170664 | SMN1 | c.81+29A= (n.81+29A=) | |
| 5 | g.70925213A>C | CA2674146549 | SMN1 | c.81+29A>C (n.81+29A>C) | gnomAD v4 |
| 5 | g.70925213A>G | CA813580231 | SMN1 | c.81+29A>G (n.81+29A>G) | dbSNP |
| 5 | g.70925214T>G | CA2674146550 | SMN1 | c.81+30T>G (n.81+30T>G) | gnomAD v4 |
| 5 | g.70925215T>G | CA2674146551 | SMN1 | c.81+31T>G (n.81+31T>G) | gnomAD v4 |
| 5 | g.70925218C>G | CA2674146553 | SMN1 | c.81+34C>G (n.81+34C>G) | gnomAD v4 |
| 5 | g.70925218C>T | CA2674146552 | SMN1 | c.81+34C>T (n.81+34C>T) | gnomAD v4 |
| 5 | g.70925219G>C | CA560282045 | SMN1 | c.81+35G>C (n.81+35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.70925219G= | CA1554170665 | SMN1 | c.81+35G= (n.81+35G=) | |
| 5 | g.70925220C>G | CA2674146554 | SMN1 | c.81+36C>G (n.81+36C>G) | gnomAD v4 |
| 5 | g.70925221T>G | CA2766897671 | SMN1 | c.81+37T>G (n.81+37T>G) | |
| 5 | g.70925224C>A | CA2766897672 | SMN1 | c.81+40C>A (n.81+40C>A) | |
| 5 | g.70925226G>A | CA2674146555 | SMN1 | c.81+42G>A (n.81+42G>A) | gnomAD v4 |
| 5 | g.70925228A>G | CA2674146556 | SMN1 | c.81+44A>G (n.81+44A>G) | gnomAD v4 |
| 5 | g.70925229C= | CA1554170666 | SMN1 | c.81+45C= (n.81+45C=) | |
| 5 | g.70925229C>T | CA560282046 | SMN1 | c.81+45C>T (n.81+45C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.70925230C>T | CA2766897675 | SMN1 | c.81+46C>T (n.81+46C>T) | |
| 5 | g.70925231C>T | CA2766897676 | SMN1 | c.81+47C>T (n.81+47C>T) | |
| 5 | g.70925232T>G | CA2674146557 | SMN1 | c.81+48T>G (n.81+48T>G) | gnomAD v4 |
| 5 | g.70925233T>C | CA2674146558 | SMN1 | c.81+49T>C (n.81+49T>C) | gnomAD v4 |
| 5 | g.70925234C>A | CA1077295800 | SMN1 | c.81+50C>A (n.81+50C>A) | gnomAD v3 gnomAD v4 |
| 5 | g.70925234C>T | CA2674146559 | SMN1 | c.81+50C>T (n.81+50C>T) | gnomAD v4 |
| 5 | g.70925235T>C | CA2674146560 | SMN1 | c.81+51T>C (n.81+51T>C) | gnomAD v4 |
| 5 | g.70925235T>G | CA2674146561 | SMN1 | c.81+51T>G (n.81+51T>G) | gnomAD v4 |
| 5 | g.70925236T>A | CA2766897677 | SMN1 | c.81+52T>A (n.81+52T>A) | |
| 5 | g.70925237C>A | CA1077295802 | SMN1 | c.81+53C>A (n.81+53C>A) | gnomAD v3 gnomAD v4 |
| 5 | g.70925242C>T | CA1077295805 | SMN1 | c.81+58C>T (n.81+58C>T) | gnomAD v3 gnomAD v4 |
| 5 | g.70925243C>T | CA2674146562 | SMN1 | c.81+59C>T (n.81+59C>T) | gnomAD v4 |
| 5 | g.70925245A>C | CA2674146563 | SMN1 | c.81+61A>C (n.81+61A>C) | gnomAD v4 |
| 5 | g.70925249T>G | CA2766897678 | SMN1 | c.81+65T>G (n.81+65T>G) | |
| 5 | g.70925251C>A | CA560282047 | SMN1 | c.81+67C>A (n.81+67C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.70925251C= | CA1554170667 | SMN1 | c.81+67C= (n.81+67C=) | |
| 5 | g.70925252T>G | CA2674146564 | SMN1 | c.81+68T>G (n.81+68T>G) | gnomAD v4 |
| 5 | g.70925253T>A | CA2766897679 | SMN1 | c.81+69T>A (n.81+69T>A) | |
| 5 | g.70925253T>G | CA2674146565 | SMN1 | c.81+69T>G (n.81+69T>G) | gnomAD v4 |
| 5 | g.70925257C>T | CA2674146566 | SMN1 | c.81+73C>T (n.81+73C>T) | gnomAD v4 |