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 |
|---|---|---|---|---|---|
| 11 | g.44275285C>A | CA2613208838 | ALX4 | c.777+63G>T (n.777+63G>T) c.255+63G>T (n.255+63G>T) | gnomAD v4 |
| 11 | g.44275285C>T | CA2574804058 | ALX4 | c.777+63G>A (n.777+63G>A) c.255+63G>A (n.255+63G>A) | gnomAD v4 |
| 11 | g.44275285_44275286del | CA2613208836 | ALX4 | c.777+62_777+63del (n.777+62_777+63del) c.255+62_255+63del (n.255+62_255+63del) | gnomAD v4 |
| 11 | g.44275287G>C | CA2613208841 | ALX4 | c.777+61C>G (n.777+61C>G) c.255+61C>G (n.255+61C>G) | gnomAD v4 |
| 11 | g.44275287G= | CA1967928767 | ALX4 | c.777+61C= (n.777+61C=) c.255+61C= (n.255+61C=) | |
| 11 | g.44275287G>T | CA598984861 | ALX4 | c.777+61C>A (n.777+61C>A) c.255+61C>A (n.255+61C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275288C>A | CA676749240 | ALX4 | c.777+60G>T (n.777+60G>T) c.255+60G>T (n.255+60G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44275288C= | CA1967928769 | ALX4 | c.777+60G= (n.777+60G=) c.255+60G= (n.255+60G=) | |
| 11 | g.44275288C>T | CA2613208843 | ALX4 | c.777+60G>A (n.777+60G>A) c.255+60G>A (n.255+60G>A) | gnomAD v4 |
| 11 | g.44275289C>A | CA2613208846 | ALX4 | c.777+59G>T (n.777+59G>T) c.255+59G>T (n.255+59G>T) | gnomAD v4 |
| 11 | g.44275289C= | CA1967928771 | ALX4 | c.777+59G= (n.777+59G=) c.255+59G= (n.255+59G=) | |
| 11 | g.44275289C>T | CA2613208847 | ALX4 | c.777+59G>A (n.777+59G>A) c.255+59G>A (n.255+59G>A) | gnomAD v4 |
| 11 | g.44275290A= | CA1967928774 | ALX4 | c.777+58T= (n.777+58T=) c.255+58T= (n.255+58T=) | |
| 11 | g.44275290A>G | CA1967928776 | ALX4 | c.777+58T>C (n.777+58T>C) c.255+58T>C (n.255+58T>C) | dbSNP gnomAD v4 |
| 11 | g.44275291dup | CA1967928773 | ALX4 | c.777+58dup (n.777+58dup) c.255+58dup (n.255+58dup) | dbSNP gnomAD v4 |
| 11 | g.44275292G>T | CA2574804059 | ALX4 | c.777+56C>A (n.777+56C>A) c.255+56C>A (n.255+56C>A) | gnomAD v4 |
| 11 | g.44275294G>A | CA221497314 | ALX4 | c.777+54C>T (n.777+54C>T) c.255+54C>T (n.255+54C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275294G= | CA1967928778 | ALX4 | c.777+54C= (n.777+54C=) c.255+54C= (n.255+54C=) | |
| 11 | g.44275294G>T | CA2613208855 | ALX4 | c.777+54C>A (n.777+54C>A) c.255+54C>A (n.255+54C>A) | gnomAD v4 |
| 11 | g.44275294_44275295delinsGC | CA1967928777 | ALX4 | c.777+53_777+54delinsGC (n.777+53_777+54delinsGC) c.255+53_255+54delinsGC (n.255+53_255+54delinsGC) | |
| 11 | g.44275295C>A | CA2613208860 | ALX4 | c.777+53G>T (n.777+53G>T) c.255+53G>T (n.255+53G>T) | gnomAD v4 |
| 11 | g.44275297del | CA937454446 | ALX4 | c.777+53del (n.777+53del) c.255+53del (n.255+53del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44275296C>A | CA676749242 | ALX4 | c.777+52G>T (n.777+52G>T) c.255+52G>T (n.255+52G>T) | dbSNP |
| 11 | g.44275296C= | CA1967928779 | ALX4 | c.777+52G= (n.777+52G=) c.255+52G= (n.255+52G=) | |
| 11 | g.44275297C= | CA1967928780 | ALX4 | c.777+51G= (n.777+51G=) c.255+51G= (n.255+51G=) | |
| 11 | g.44275297C>G | CA221497322 | ALX4 | c.777+51G>C (n.777+51G>C) c.255+51G>C (n.255+51G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275298A= | CA1967928781 | ALX4 | c.777+50T= (n.777+50T=) c.255+50T= (n.255+50T=) | |
| 11 | g.44275298A>G | CA2613208867 | ALX4 | c.777+50T>C (n.777+50T>C) c.255+50T>C (n.255+50T>C) | gnomAD v4 |
| 11 | g.44275298A>T | CA1967928782 | ALX4 | c.777+50T>A (n.777+50T>A) c.255+50T>A (n.255+50T>A) | dbSNP gnomAD v4 |
| 11 | g.44275299G>A | CA2791249199 | ALX4 | c.777+49C>T (n.777+49C>T) c.255+49C>T (n.255+49C>T) | |
| 11 | g.44275299G>T | CA2574804060 | ALX4 | c.777+49C>A (n.777+49C>A) c.255+49C>A (n.255+49C>A) | gnomAD v4 |
| 11 | g.44275300G>A | CA598984862 | ALX4 | c.777+48C>T (n.777+48C>T) c.255+48C>T (n.255+48C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44275300G= | CA1967928783 | ALX4 | c.777+48C= (n.777+48C=) c.255+48C= (n.255+48C=) | |
| 11 | g.44275300G>T | CA2613208870 | ALX4 | c.777+48C>A (n.777+48C>A) c.255+48C>A (n.255+48C>A) | gnomAD v4 |
| 11 | g.44275301G>A | CA2574804061 | ALX4 | c.777+47C>T (n.777+47C>T) c.255+47C>T (n.255+47C>T) | gnomAD v4 |
| 11 | g.44275301G>T | CA2613208871 | ALX4 | c.777+47C>A (n.777+47C>A) c.255+47C>A (n.255+47C>A) | gnomAD v4 |
| 11 | g.44275302A>T | CA2613208873 | ALX4 | c.777+46T>A (n.777+46T>A) c.255+46T>A (n.255+46T>A) | gnomAD v4 |
| 11 | g.44275303C>A | CA5955650 | ALX4 | c.777+45G>T (n.777+45G>T) c.255+45G>T (n.255+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275303C= | CA1967928784 | ALX4 | c.777+45G= (n.777+45G=) c.255+45G= (n.255+45G=) | |
| 11 | g.44275304A>G | CA2574804062 | ALX4 | c.777+44T>C (n.777+44T>C) c.255+44T>C (n.255+44T>C) | |
| 11 | g.44275305G>T | CA2613208876 | ALX4 | c.777+43C>A (n.777+43C>A) c.255+43C>A (n.255+43C>A) | gnomAD v4 |
| 11 | g.44275306G>A | CA2613208878 | ALX4 | c.777+42C>T (n.777+42C>T) c.255+42C>T (n.255+42C>T) | gnomAD v4 |
| 11 | g.44275306G>T | CA2574804063 | ALX4 | c.777+42C>A (n.777+42C>A) c.255+42C>A (n.255+42C>A) | gnomAD v4 |
| 11 | g.44275307C>A | CA2613208882 | ALX4 | c.777+41G>T (n.777+41G>T) c.255+41G>T (n.255+41G>T) | gnomAD v4 |
| 11 | g.44275307C>T | CA2613208884 | ALX4 | c.777+41G>A (n.777+41G>A) c.255+41G>A (n.255+41G>A) | gnomAD v4 |
| 11 | g.44275308T>C | CA2613208885 | ALX4 | c.777+40A>G (n.777+40A>G) c.255+40A>G (n.255+40A>G) | gnomAD v4 |
| 11 | g.44275311G>A | CA2791249200 | ALX4 | c.777+37C>T (n.777+37C>T) c.255+37C>T (n.255+37C>T) | |
| 11 | g.44275311G>T | CA2613208888 | ALX4 | c.777+37C>A (n.777+37C>A) c.255+37C>A (n.255+37C>A) | gnomAD v4 |
| 11 | g.44275312C>A | CA2791249201 | ALX4 | c.777+36G>T (n.777+36G>T) c.255+36G>T (n.255+36G>T) | |
| 11 | g.44275312C>T | CA2613208889 | ALX4 | c.777+36G>A (n.777+36G>A) c.255+36G>A (n.255+36G>A) | dbSNP gnomAD v4 |
| 11 | g.44275316A= | CA1967928787 | ALX4 | c.777+32T= (n.777+32T=) c.255+32T= (n.255+32T=) | |
| 11 | g.44275316A>C | CA1967928786 | ALX4 | c.777+32T>G (n.777+32T>G) c.255+32T>G (n.255+32T>G) | dbSNP |
| 11 | g.44275317C= | CA1967928789 | ALX4 | c.777+31G= (n.777+31G=) c.255+31G= (n.255+31G=) | |
| 11 | g.44275317C>G | CA5955651 | ALX4 | c.777+31G>C (n.777+31G>C) c.255+31G>C (n.255+31G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44275318C= | CA1967928791 | ALX4 | c.777+30G= (n.777+30G=) c.255+30G= (n.255+30G=) | |
| 11 | g.44275318C>T | CA5955652 | ALX4 | c.777+30G>A (n.777+30G>A) c.255+30G>A (n.255+30G>A) | dbSNP ExAC gnomAD v4 |
| 11 | g.44275319A= | CA1967928793 | ALX4 | c.777+29T= (n.777+29T=) c.255+29T= (n.255+29T=) | |
| 11 | g.44275319A>G | CA5955653 | ALX4 | c.777+29T>C (n.777+29T>C) c.255+29T>C (n.255+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44275320G>C | CA5955654 | ALX4 | c.777+28C>G (n.777+28C>G) c.255+28C>G (n.255+28C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275320G= | CA1967928796 | ALX4 | c.777+28C= (n.777+28C=) c.255+28C= (n.255+28C=) | |
| 11 | g.44275321C>A | CA1967928813 | ALX4 | c.777+27G>T (n.777+27G>T) c.255+27G>T (n.255+27G>T) | dbSNP |
| 11 | g.44275321C= | CA1967928811 | ALX4 | c.777+27G= (n.777+27G=) c.255+27G= (n.255+27G=) | |
| 11 | g.44275321C>G | CA1967928816 | ALX4 | c.777+27G>C (n.777+27G>C) c.255+27G>C (n.255+27G>C) | dbSNP |
| 11 | g.44275321C>T | CA2791249202 | ALX4 | c.777+27G>A (n.777+27G>A) c.255+27G>A (n.255+27G>A) | |
| 11 | g.44275322C= | CA1967928820 | ALX4 | c.777+26G= (n.777+26G=) c.255+26G= (n.255+26G=) | |
| 11 | g.44275322C>T | CA598984863 | ALX4 | c.777+26G>A (n.777+26G>A) c.255+26G>A (n.255+26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44275323T>G | CA2613208908 | ALX4 | c.777+25A>C (n.777+25A>C) c.255+25A>C (n.255+25A>C) | gnomAD v4 |
| 11 | g.44275324C>A | CA5955655 | ALX4 | c.777+24G>T (n.777+24G>T) c.255+24G>T (n.255+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275324C= | CA1967928824 | ALX4 | c.777+24G= (n.777+24G=) c.255+24G= (n.255+24G=) | |
| 11 | g.44275324C>T | CA2613208909 | ALX4 | c.777+24G>A (n.777+24G>A) c.255+24G>A (n.255+24G>A) | gnomAD v4 |
| 11 | g.44275326C>A | CA598984864 | ALX4 | c.777+22G>T (n.777+22G>T) c.255+22G>T (n.255+22G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44275326C= | CA1967928829 | ALX4 | c.777+22G= (n.777+22G=) c.255+22G= (n.255+22G=) | |
| 11 | g.44275326C>T | CA2613208913 | ALX4 | c.777+22G>A (n.777+22G>A) c.255+22G>A (n.255+22G>A) | gnomAD v4 |
| 11 | g.44275328C= | CA1967928831 | ALX4 | c.777+20G= (n.777+20G=) c.255+20G= (n.255+20G=) | |
| 11 | g.44275328C>T | CA598984865 | ALX4 | c.777+20G>A (n.777+20G>A) c.255+20G>A (n.255+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44275329C= | CA1967928835 | ALX4 | c.777+19G= (n.777+19G=) c.255+19G= (n.255+19G=) | |
| 11 | g.44275329C>T | CA221497346 | ALX4 | c.777+19G>A (n.777+19G>A) c.255+19G>A (n.255+19G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44275332G>A | CA2613208916 | ALX4 | c.777+16C>T (n.777+16C>T) c.255+16C>T (n.255+16C>T) | dbSNP gnomAD v4 |
| 11 | g.44275333G>A | CA2574804064 | ALX4 | c.777+15C>T (n.777+15C>T) c.255+15C>T (n.255+15C>T) | gnomAD v4 |
| 11 | g.44275333G>T | CA2613208918 | ALX4 | c.777+15C>A (n.777+15C>A) c.255+15C>A (n.255+15C>A) | gnomAD v4 |
| 11 | g.44275334T>A | CA2791249203 | ALX4 | c.777+14A>T (n.777+14A>T) c.255+14A>T (n.255+14A>T) | |
| 11 | g.44275335G>A | CA5955656 | ALX4 | c.777+13C>T (n.777+13C>T) c.255+13C>T (n.255+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44275335G>C | CA2613208921 | ALX4 | c.777+13C>G (n.777+13C>G) c.255+13C>G (n.255+13C>G) | gnomAD v4 |
| 11 | g.44275335G= | CA1967928840 | ALX4 | c.777+13C= (n.777+13C=) c.255+13C= (n.255+13C=) | |
| 11 | g.44275336G>A | CA5955657 | ALX4 | c.777+12C>T (n.777+12C>T) c.255+12C>T (n.255+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275336G= | CA1967928846 | ALX4 | c.777+12C= (n.777+12C=) c.255+12C= (n.255+12C=) | |
| 11 | g.44275337C>A | CA2613208933 | ALX4 | c.777+11G>T (n.777+11G>T) c.255+11G>T (n.255+11G>T) | gnomAD v4 |
| 11 | g.44275339C= | CA1967928851 | ALX4 | c.777+9G= (n.777+9G=) c.255+9G= (n.255+9G=) | |
| 11 | g.44275339C>T | CA598984866 | ALX4 | c.777+9G>A (n.777+9G>A) c.255+9G>A (n.255+9G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275344T>C | CA1967928854 | ALX4 | c.777+4A>G (n.777+4A>G) c.255+4A>G (n.255+4A>G) | dbSNP |
| 11 | g.44275344T= | CA1967928853 | ALX4 | c.777+4A= (n.777+4A=) c.255+4A= (n.255+4A=) | |
| 11 | g.44275345G>A | CA5955658 | ALX4 | c.777+3C>T (n.777+3C>T) c.255+3C>T (n.255+3C>T) | dbSNP ExAC gnomAD v2 |
| 11 | g.44275345G= | CA1967928856 | ALX4 | c.777+3C= (n.777+3C=) c.255+3C= (n.255+3C=) | |
| 11 | g.44275345G>T | CA2549792971 | ALX4 | c.777+3C>A (n.777+3C>A) c.255+3C>A (n.255+3C>A) | gnomAD v4 |
| 11 | g.44275346A>C | CA380182124 | ALX4 | c.777+2T>G (n.777+2T>G) c.255+2T>G (n.255+2T>G) | |
| 11 | g.44275346A>G | CA380182126 | ALX4 | c.777+2T>C (n.777+2T>C) c.255+2T>C (n.255+2T>C) | |
| 11 | g.44275346A>T | CA380182125 | ALX4 | c.777+2T>A (n.777+2T>A) c.255+2T>A (n.255+2T>A) | |
| 11 | g.44275347C>A | CA380182127 | ALX4 | c.777+1G>T (n.777+1G>T) c.255+1G>T (n.255+1G>T) | |
| 11 | g.44275347C>G | CA380182128 | ALX4 | c.777+1G>C (n.777+1G>C) c.255+1G>C (n.255+1G>C) | |
| 11 | g.44275347C>T | CA380182129 | ALX4 | c.777+1G>A (n.777+1G>A) c.255+1G>A (n.255+1G>A) | COSMIC |
| 11 | g.44275348C>A | CA380182130 | ALX4 | c.777G>T (p.Gln259His) c.255G>T (p.Gln85His) | |
| 11 | g.44275348C>G | CA380182131 | ALX4 | c.777G>C (p.Gln259His) c.255G>C (p.Gln85His) | |
| 11 | g.44275348C>T | CA473833838 | ALX4 | c.777G>A (p.Gln259=) c.255G>A (p.Gln85=) | gnomAD v4 |
| 11 | g.44275349T>A | CA380182132 | ALX4 | c.776A>T (p.Gln259Leu) c.254A>T (p.Gln85Leu) | COSMIC |
| 11 | g.44275349T>C | CA380182133 | ALX4 | c.776A>G (p.Gln259Arg) c.254A>G (p.Gln85Arg) | |
| 11 | g.44275349T>G | CA380182134 | ALX4 | c.776A>C (p.Gln259Pro) c.254A>C (p.Gln85Pro) | |
| 11 | g.44275350G>A | CA380182135 | ALX4 | c.775C>T (p.Gln259Ter) c.253C>T (p.Gln85Ter) | |
| 11 | g.44275350G>C | CA380182136 | ALX4 | c.775C>G (p.Gln259Glu) c.253C>G (p.Gln85Glu) | |
| 11 | g.44275350G>T | CA380182137 | ALX4 | c.775C>A (p.Gln259Lys) c.253C>A (p.Gln85Lys) | |
| 11 | g.44275351C>A | CA473833839 | ALX4 | c.774G>T (p.Val258=) c.252G>T (p.Val84=) | |
| 11 | g.44275351C= | CA1967928860 | ALX4 | c.774G= (p.Val258=) c.252G= (p.Val84=) | |
| 11 | g.44275351C>G | CA473833840 | ALX4 | c.774G>C (p.Val258=) c.252G>C (p.Val84=) | |
| 11 | g.44275351C>T | CA473833841 | ALX4 | c.774G>A (p.Val258=) c.252G>A (p.Val84=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44275352A>C | CA380182140 | ALX4 | c.773T>G (p.Val258Gly) c.251T>G (p.Val84Gly) | |
| 11 | g.44275352A>G | CA380182138 | ALX4 | c.773T>C (p.Val258Ala) c.251T>C (p.Val84Ala) | |
| 11 | g.44275352A>T | CA380182139 | ALX4 | c.773T>A (p.Val258Glu) c.251T>A (p.Val84Glu) | |
| 11 | g.44275353C>A | CA5955660 | ALX4 | c.772G>T (p.Val258Leu) c.250G>T (p.Val84Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44275353C= | CA1967928865 | ALX4 | c.772G= (p.Val258=) c.250G= (p.Val84=) | |
| 11 | g.44275353C>G | CA380182141 | ALX4 | c.772G>C (p.Val258Leu) c.250G>C (p.Val84Leu) | gnomAD v4 |
| 11 | g.44275353C>T | CA5955659 | ALX4 | c.772G>A (p.Val258Met) c.250G>A (p.Val84Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.44275354G>A | CA5955661 | ALX4 | c.771C>T (p.Arg257=) c.249C>T (p.Arg83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275354G>C | CA473833842 | ALX4 | c.771C>G (p.Arg257=) c.249C>G (p.Arg83=) | gnomAD v4 |
| 11 | g.44275354G= | CA1967928874 | ALX4 | c.771C= (p.Arg257=) c.249C= (p.Arg83=) | |
| 11 | g.44275354G>T | CA473833843 | ALX4 | c.771C>A (p.Arg257=) c.249C>A (p.Arg83=) | |
| 11 | g.44275355C>A | CA380182142 | ALX4 | c.770G>T (p.Arg257Leu) c.248G>T (p.Arg83Leu) | |
| 11 | g.44275355C= | CA1967928878 | ALX4 | c.770G= (p.Arg257=) c.248G= (p.Arg83=) | |
| 11 | g.44275355C>G | CA380182143 | ALX4 | c.770G>C (p.Arg257Pro) c.248G>C (p.Arg83Pro) | |
| 11 | g.44275355C>T | CA5955662 | ALX4 | c.770G>A (p.Arg257His) c.248G>A (p.Arg83His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.44275356G>A | CA5955663 | ALX4 | c.769C>T (p.Arg257Cys) c.247C>T (p.Arg83Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275356G>C | CA380182144 | ALX4 | c.769C>G (p.Arg257Gly) c.247C>G (p.Arg83Gly) | |
| 11 | g.44275356G= | CA1967928881 | ALX4 | c.769C= (p.Arg257=) c.247C= (p.Arg83=) | |
| 11 | g.44275356G>T | CA380182145 | ALX4 | c.769C>A (p.Arg257Ser) c.247C>A (p.Arg83Ser) | |
| 11 | g.44275357G>A | CA473833844 | ALX4 | c.768C>T (p.Ala256=) c.246C>T (p.Ala82=) | gnomAD v4 |
| 11 | g.44275357G>C | CA473833845 | ALX4 | c.768C>G (p.Ala256=) c.246C>G (p.Ala82=) | |
| 11 | g.44275357G>T | CA473833846 | ALX4 | c.768C>A (p.Ala256=) c.246C>A (p.Ala82=) | |
| 11 | g.44275358G>A | CA380182146 | ALX4 | c.767C>T (p.Ala256Val) c.245C>T (p.Ala82Val) | gnomAD v4 |
| 11 | g.44275358G>C | CA380182147 | ALX4 | c.767C>G (p.Ala256Gly) c.245C>G (p.Ala82Gly) | |
| 11 | g.44275358G>T | CA380182148 | ALX4 | c.767C>A (p.Ala256Asp) c.245C>A (p.Ala82Asp) | |
| 11 | g.44275359C>A | CA380182151 | ALX4 | c.766G>T (p.Ala256Ser) c.244G>T (p.Ala82Ser) | gnomAD v4 |
| 11 | g.44275359C= | CA1967928884 | ALX4 | c.766G= (p.Ala256=) c.244G= (p.Ala82=) | |
| 11 | g.44275359C>G | CA380182150 | ALX4 | c.766G>C (p.Ala256Pro) c.244G>C (p.Ala82Pro) | |
| 11 | g.44275359C>T | CA380182149 | ALX4 | c.766G>A (p.Ala256Thr) c.244G>A (p.Ala82Thr) | dbSNP |
| 11 | g.44275360C>A | CA380182152 | ALX4 | c.765G>T (p.Glu255Asp) c.243G>T (p.Glu81Asp) | |
| 11 | g.44275360C= | CA1967928887 | ALX4 | c.765G= (p.Glu255=) c.243G= (p.Glu81=) | |
| 11 | g.44275360C>G | CA380182153 | ALX4 | c.765G>C (p.Glu255Asp) c.243G>C (p.Glu81Asp) | |
| 11 | g.44275360C>T | CA473833847 | ALX4 | c.765G>A (p.Glu255=) c.243G>A (p.Glu81=) | dbSNP gnomAD v2 |
| 11 | g.44275361T>A | CA380182154 | ALX4 | c.764A>T (p.Glu255Val) c.242A>T (p.Glu81Val) | |
| 11 | g.44275361T>C | CA380182155 | ALX4 | c.764A>G (p.Glu255Gly) c.242A>G (p.Glu81Gly) | |
| 11 | g.44275361T>G | CA380182156 | ALX4 | c.764A>C (p.Glu255Ala) c.242A>C (p.Glu81Ala) | |
| 11 | g.44275362C>A | CA380182157 | ALX4 | c.763G>T (p.Glu255Ter) c.241G>T (p.Glu81Ter) | |
| 11 | g.44275362C>G | CA380182158 | ALX4 | c.763G>C (p.Glu255Gln) c.241G>C (p.Glu81Gln) | |
| 11 | g.44275362C>T | CA380182159 | ALX4 | c.763G>A (p.Glu255Lys) c.241G>A (p.Glu81Lys) | |
| 11 | g.44275363A= | CA1967928889 | ALX4 | c.762T= (p.Thr254=) c.240T= (p.Thr80=) | |
| 11 | g.44275363A>C | CA473833848 | ALX4 | c.762T>G (p.Thr254=) c.240T>G (p.Thr80=) | |
| 11 | g.44275363A>G | CA473833849 | ALX4 | c.762T>C (p.Thr254=) c.240T>C (p.Thr80=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44275363A>T | CA473833850 | ALX4 | c.762T>A (p.Thr254=) c.240T>A (p.Thr80=) | |
| 11 | g.44275364G>A | CA380182160 | ALX4 | c.761C>T (p.Thr254Ile) c.239C>T (p.Thr80Ile) | dbSNP |
| 11 | g.44275364G>C | CA380182161 | ALX4 | c.761C>G (p.Thr254Ser) c.239C>G (p.Thr80Ser) | gnomAD v4 |
| 11 | g.44275364G= | CA1967928892 | ALX4 | c.761C= (p.Thr254=) c.239C= (p.Thr80=) | |
| 11 | g.44275364G>T | CA380182162 | ALX4 | c.761C>A (p.Thr254Asn) c.239C>A (p.Thr80Asn) | |
| 11 | g.44275365T>A | CA380182163 | ALX4 | c.760A>T (p.Thr254Ser) c.238A>T (p.Thr80Ser) | |
| 11 | g.44275365T>C | CA380182164 | ALX4 | c.760A>G (p.Thr254Ala) c.238A>G (p.Thr80Ala) | |
| 11 | g.44275365T>G | CA380182165 | ALX4 | c.760A>C (p.Thr254Pro) c.238A>C (p.Thr80Pro) | |
| 11 | g.44275366G>A | CA473833851 | ALX4 | c.759C>T (p.Leu253=) c.237C>T (p.Leu79=) | |
| 11 | g.44275366G>C | CA473833852 | ALX4 | c.759C>G (p.Leu253=) c.237C>G (p.Leu79=) | |
| 11 | g.44275366G>T | CA473833853 | ALX4 | c.759C>A (p.Leu253=) c.237C>A (p.Leu79=) | |
| 11 | g.44275367A>C | CA380182168 | ALX4 | c.758T>G (p.Leu253Arg) c.236T>G (p.Leu79Arg) | |
| 11 | g.44275367A>G | CA380182167 | ALX4 | c.758T>C (p.Leu253Pro) c.236T>C (p.Leu79Pro) | gnomAD v4 |
| 11 | g.44275367A>T | CA380182166 | ALX4 | c.758T>A (p.Leu253His) c.236T>A (p.Leu79His) | |
| 11 | g.44275368G>A | CA380182169 | ALX4 | c.757C>T (p.Leu253Phe) c.235C>T (p.Leu79Phe) | |
| 11 | g.44275368G>C | CA380182170 | ALX4 | c.757C>G (p.Leu253Val) c.235C>G (p.Leu79Val) | |
| 11 | g.44275368G>T | CA380182171 | ALX4 | c.757C>A (p.Leu253Ile) c.235C>A (p.Leu79Ile) | |
| 11 | g.44275369G>A | CA5955664 | ALX4 | c.756C>T (p.Asp252=) c.234C>T (p.Asp78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44275369G>C | CA380182172 | ALX4 | c.756C>G (p.Asp252Glu) c.234C>G (p.Asp78Glu) | |
| 11 | g.44275369G= | CA1967928895 | ALX4 | c.756C= (p.Asp252=) c.234C= (p.Asp78=) | |
| 11 | g.44275369G>T | CA380182173 | ALX4 | c.756C>A (p.Asp252Glu) c.234C>A (p.Asp78Glu) | dbSNP |
| 11 | g.44275370T>A | CA380182174 | ALX4 | c.755A>T (p.Asp252Val) c.233A>T (p.Asp78Val) | |
| 11 | g.44275370T>C | CA380182175 | ALX4 | c.755A>G (p.Asp252Gly) c.233A>G (p.Asp78Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44275370T>G | CA380182176 | ALX4 | c.755A>C (p.Asp252Ala) c.233A>C (p.Asp78Ala) | |
| 11 | g.44275370T= | CA1967928904 | ALX4 | c.755A= (p.Asp252=) c.233A= (p.Asp78=) | |
| 11 | g.44275371C>A | CA380182177 | ALX4 | c.754G>T (p.Asp252Tyr) c.232G>T (p.Asp78Tyr) | |
| 11 | g.44275371C>G | CA380182178 | ALX4 | c.754G>C (p.Asp252His) c.232G>C (p.Asp78His) | |
| 11 | g.44275371C>T | CA380182179 | ALX4 | c.754G>A (p.Asp252Asn) c.232G>A (p.Asp78Asn) | |
| 11 | g.44275372T>A | CA473833854 | ALX4 | c.753A>T (p.Thr251=) c.231A>T (p.Thr77=) | |
| 11 | g.44275372T>C | CA473833855 | ALX4 | c.753A>G (p.Thr251=) c.231A>G (p.Thr77=) | |
| 11 | g.44275372T>G | CA473833856 | ALX4 | c.753A>C (p.Thr251=) c.231A>C (p.Thr77=) | |
| 11 | g.44275373G>A | CA380182182 | ALX4 | c.752C>T (p.Thr251Ile) c.230C>T (p.Thr77Ile) | |
| 11 | g.44275373G>C | CA380182181 | ALX4 | c.752C>G (p.Thr251Arg) c.230C>G (p.Thr77Arg) | |
| 11 | g.44275373G>T | CA380182180 | ALX4 | c.752C>A (p.Thr251Lys) c.230C>A (p.Thr77Lys) | |
| 11 | g.44275374T>A | CA380182183 | ALX4 | c.751A>T (p.Thr251Ser) c.229A>T (p.Thr77Ser) | |
| 11 | g.44275374T>C | CA380182184 | ALX4 | c.751A>G (p.Thr251Ala) c.229A>G (p.Thr77Ala) | |
| 11 | g.44275374T>G | CA380182185 | ALX4 | c.751A>C (p.Thr251Pro) c.229A>C (p.Thr77Pro) | |
| 11 | g.44275375C>A | CA221497431 | ALX4 | c.750G>T (p.Arg250Ser) c.228G>T (p.Arg76Ser) | dbSNP |
| 11 | g.44275375C= | CA1967928908 | ALX4 | c.750G= (p.Arg250=) c.228G= (p.Arg76=) | |
| 11 | g.44275375C>G | CA380182186 | ALX4 | c.750G>C (p.Arg250Ser) c.228G>C (p.Arg76Ser) | |
| 11 | g.44275375C>T | CA473833857 | ALX4 | c.750G>A (p.Arg250=) c.228G>A (p.Arg76=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44275376C>A | CA380182187 | ALX4 | c.749G>T (p.Arg250Met) c.227G>T (p.Arg76Met) | |
| 11 | g.44275376C= | CA1967928915 | ALX4 | c.749G= (p.Arg250=) c.227G= (p.Arg76=) | |
| 11 | g.44275376C>G | CA221497437 | ALX4 | c.749G>C (p.Arg250Thr) c.227G>C (p.Arg76Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275376C>T | CA380182188 | ALX4 | c.749G>A (p.Arg250Lys) c.227G>A (p.Arg76Lys) | dbSNP |
| 11 | g.44275377T>A | CA380182189 | ALX4 | c.748A>T (p.Arg250Trp) c.226A>T (p.Arg76Trp) | |
| 11 | g.44275377T>C | CA380182190 | ALX4 | c.748A>G (p.Arg250Gly) c.226A>G (p.Arg76Gly) | |
| 11 | g.44275377T>G | CA473833860 | ALX4 | c.748A>C (p.Arg250=) c.226A>C (p.Arg76=) | |
| 11 | g.44275378C>A | CA380182191 | ALX4 | c.747G>T (p.Met249Ile) c.225G>T (p.Met75Ile) | |
| 11 | g.44275378C>G | CA380182192 | ALX4 | c.747G>C (p.Met249Ile) c.225G>C (p.Met75Ile) | |
| 11 | g.44275378C>T | CA380182193 | ALX4 | c.747G>A (p.Met249Ile) c.225G>A (p.Met75Ile) | |
| 11 | g.44275379A= | CA1967928919 | ALX4 | c.746T= (p.Met249=) c.224T= (p.Met75=) | |
| 11 | g.44275379A>C | CA380182195 | ALX4 | c.746T>G (p.Met249Arg) c.224T>G (p.Met75Arg) | |
| 11 | g.44275379A>G | CA5955665 | ALX4 | c.746T>C (p.Met249Thr) c.224T>C (p.Met75Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44275379A>T | CA380182194 | ALX4 | c.746T>A (p.Met249Lys) c.224T>A (p.Met75Lys) | |
| 11 | g.44275380T>A | CA380182196 | ALX4 | c.745A>T (p.Met249Leu) c.223A>T (p.Met75Leu) | gnomAD v4 |
| 11 | g.44275380T>C | CA380182198 | ALX4 | c.745A>G (p.Met249Val) c.223A>G (p.Met75Val) | |
| 11 | g.44275380T>G | CA380182197 | ALX4 | c.745A>C (p.Met249Leu) c.223A>C (p.Met75Leu) | |
| 11 | g.44275381G>A | CA473833864 | ALX4 | c.744C>T (p.Ala248=) c.222C>T (p.Ala74=) | |
| 11 | g.44275381G>C | CA473833866 | ALX4 | c.744C>G (p.Ala248=) c.222C>G (p.Ala74=) | gnomAD v4 |
| 11 | g.44275381G>T | CA473833865 | ALX4 | c.744C>A (p.Ala248=) c.222C>A (p.Ala74=) | |
| 11 | g.44275382G>A | CA380182199 | ALX4 | c.743C>T (p.Ala248Val) c.221C>T (p.Ala74Val) | |
| 11 | g.44275382G>C | CA380182201 | ALX4 | c.743C>G (p.Ala248Gly) c.221C>G (p.Ala74Gly) | |
| 11 | g.44275382G>T | CA380182200 | ALX4 | c.743C>A (p.Ala248Asp) c.221C>A (p.Ala74Asp) | |
| 11 | g.44275383C>A | CA380182202 | ALX4 | c.742G>T (p.Ala248Ser) c.220G>T (p.Ala74Ser) | |
| 11 | g.44275383C>G | CA380182203 | ALX4 | c.742G>C (p.Ala248Pro) c.220G>C (p.Ala74Pro) | |
| 11 | g.44275383C>T | CA380182204 | ALX4 | c.742G>A (p.Ala248Thr) c.220G>A (p.Ala74Thr) | |
| 11 | g.44275384C>A | CA473833870 | ALX4 | c.741G>T (p.Leu247=) c.219G>T (p.Leu73=) | |
| 11 | g.44275384C= | CA1967928921 | ALX4 | c.741G= (p.Leu247=) c.219G= (p.Leu73=) | |
| 11 | g.44275384C>G | CA5955666 | ALX4 | c.741G>C (p.Leu247=) c.219G>C (p.Leu73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275384C>T | CA473833871 | ALX4 | c.741G>A (p.Leu247=) c.219G>A (p.Leu73=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44275385A>C | CA380182205 | ALX4 | c.740T>G (p.Leu247Arg) c.218T>G (p.Leu73Arg) | |
| 11 | g.44275385A>G | CA380182206 | ALX4 | c.740T>C (p.Leu247Pro) c.218T>C (p.Leu73Pro) | |
| 11 | g.44275385A>T | CA380182207 | ALX4 | c.740T>A (p.Leu247Gln) c.218T>A (p.Leu73Gln) |