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.91266060_91266062delinsGGG | CA2478485092 | HFM1 | c.3929_3931delinsCCC (p.Pro1310=) c.1564_1566delinsCCC n.1809+1683_1809+1685delinsCCC c.2162_2164delinsCCC (p.Pro721=) c.3926_3928delinsCCC (p.Pro1309=) c.3848_3850delinsCCC (p.Pro1283=) c.3797_3799delinsCCC (p.Pro1266=) c.3803_3805delinsCCC (p.Pro1268=) c.3883+1683_3883+1685delinsCCC (n.3883+1683_3883+1685delinsCCC) c.3506_3508delinsCCC (p.Pro1169=) c.2966_2968delinsCCC (p.Pro989=) c.2756_2758delinsCCC (p.Pro919=) c.2258_2260delinsCCC (p.Pro753=) n.3926+1683_3926+1685delinsCCC n.3840+1683_3840+1685delinsCCC n.3708+1683_3708+1685delinsCCC n.3519_3521delinsCCC | |
| 1 | g.91266061G>A | CA418742031 | HFM1 | c.3930C>T (p.Pro1310=) c.1565C>T n.1809+1684C>T c.2163C>T (p.Pro721=) c.3927C>T (p.Pro1309=) c.3849C>T (p.Pro1283=) c.3798C>T (p.Pro1266=) c.3804C>T (p.Pro1268=) c.3883+1684C>T (n.3883+1684C>T) c.3507C>T (p.Pro1169=) c.2967C>T (p.Pro989=) c.2757C>T (p.Pro919=) c.2259C>T (p.Pro753=) n.3926+1684C>T n.3840+1684C>T n.3708+1684C>T n.3520C>T | |
| 1 | g.91266061G>C | CA418742030 | HFM1 | c.3930C>G (p.Pro1310=) c.1565C>G n.1809+1684C>G c.2163C>G (p.Pro721=) c.3927C>G (p.Pro1309=) c.3849C>G (p.Pro1283=) c.3798C>G (p.Pro1266=) c.3804C>G (p.Pro1268=) c.3883+1684C>G (n.3883+1684C>G) c.3507C>G (p.Pro1169=) c.2967C>G (p.Pro989=) c.2757C>G (p.Pro919=) c.2259C>G (p.Pro753=) n.3926+1684C>G n.3840+1684C>G n.3708+1684C>G n.3520C>G | dbSNP |
| 1 | g.91266061G= | CA2478485094 | HFM1 | c.3930C= (p.Pro1310=) c.1565C= n.1809+1684C= c.2163C= (p.Pro721=) c.3927C= (p.Pro1309=) c.3849C= (p.Pro1283=) c.3798C= (p.Pro1266=) c.3804C= (p.Pro1268=) c.3883+1684C= (n.3883+1684C=) c.3507C= (p.Pro1169=) c.2967C= (p.Pro989=) c.2757C= (p.Pro919=) c.2259C= (p.Pro753=) n.3926+1684C= n.3840+1684C= n.3708+1684C= n.3520C= | |
| 1 | g.91266061G>T | CA418742029 | HFM1 | c.3930C>A (p.Pro1310=) c.1565C>A n.1809+1684C>A c.2163C>A (p.Pro721=) c.3927C>A (p.Pro1309=) c.3849C>A (p.Pro1283=) c.3798C>A (p.Pro1266=) c.3804C>A (p.Pro1268=) c.3883+1684C>A (n.3883+1684C>A) c.3507C>A (p.Pro1169=) c.2967C>A (p.Pro989=) c.2757C>A (p.Pro919=) c.2259C>A (p.Pro753=) n.3926+1684C>A n.3840+1684C>A n.3708+1684C>A n.3520C>A | |
| 1 | g.91266061_91266062delinsC | CA151147 | HFM1 | c.3929_3930delinsG (p.Pro1310ArgfsTer?) c.1564_1565delinsG n.1809+1683_1809+1684delinsG c.2162_2163delinsG (p.Pro721ArgfsTer?) c.3926_3927delinsG (p.Pro1309ArgfsTer?) c.3848_3849delinsG (p.Pro1283ArgfsTer?) c.3797_3798delinsG (p.Pro1266ArgfsTer?) c.3803_3804delinsG (p.Pro1268ArgfsTer?) c.3883+1683_3883+1684delinsG (n.3883+1683_3883+1684delinsG) c.3506_3507delinsG (p.Pro1169ArgfsTer?) c.2966_2967delinsG (p.Pro989ArgfsTer?) c.2756_2757delinsG (p.Pro919ArgfsTer?) c.2258_2259delinsG (p.Pro753ArgfsTer?) n.3926+1683_3926+1684delinsG n.3840+1683_3840+1684delinsG n.3708+1683_3708+1684delinsG n.3519_3520delinsG | ClinVar dbSNP |
| 1 | g.91266061_91266062delinsGG | CA1148224387 | HFM1 | c.3929_3930delinsCC (p.Pro1310=) c.1564_1565delinsCC n.1809+1683_1809+1684delinsCC c.2162_2163delinsCC (p.Pro721=) c.3926_3927delinsCC (p.Pro1309=) c.3848_3849delinsCC (p.Pro1283=) c.3797_3798delinsCC (p.Pro1266=) c.3803_3804delinsCC (p.Pro1268=) c.3883+1683_3883+1684delinsCC (n.3883+1683_3883+1684delinsCC) c.3506_3507delinsCC (p.Pro1169=) c.2966_2967delinsCC (p.Pro989=) c.2756_2757delinsCC (p.Pro919=) c.2258_2259delinsCC (p.Pro753=) n.3926+1683_3926+1684delinsCC n.3840+1683_3840+1684delinsCC n.3708+1683_3708+1684delinsCC n.3519_3520delinsCC | |
| 1 | g.91266062G>A | CA341049371 | HFM1 | c.3929C>T (p.Pro1310Leu) c.1564C>T n.1809+1683C>T c.2162C>T (p.Pro721Leu) c.3926C>T (p.Pro1309Leu) c.3848C>T (p.Pro1283Leu) c.3797C>T (p.Pro1266Leu) c.3803C>T (p.Pro1268Leu) c.3883+1683C>T (n.3883+1683C>T) c.3506C>T (p.Pro1169Leu) c.2966C>T (p.Pro989Leu) c.2756C>T (p.Pro919Leu) c.2258C>T (p.Pro753Leu) n.3926+1683C>T n.3840+1683C>T n.3708+1683C>T n.3519C>T | |
| 1 | g.91266062G>C | CA341049373 | HFM1 | c.3929C>G (p.Pro1310Arg) c.1564C>G n.1809+1683C>G c.2162C>G (p.Pro721Arg) c.3926C>G (p.Pro1309Arg) c.3848C>G (p.Pro1283Arg) c.3797C>G (p.Pro1266Arg) c.3803C>G (p.Pro1268Arg) c.3883+1683C>G (n.3883+1683C>G) c.3506C>G (p.Pro1169Arg) c.2966C>G (p.Pro989Arg) c.2756C>G (p.Pro919Arg) c.2258C>G (p.Pro753Arg) n.3926+1683C>G n.3840+1683C>G n.3708+1683C>G n.3519C>G | |
| 1 | g.91266062G= | CA2478485095 | HFM1 | c.3929C= (p.Pro1310=) c.1564C= n.1809+1683C= c.2162C= (p.Pro721=) c.3926C= (p.Pro1309=) c.3848C= (p.Pro1283=) c.3797C= (p.Pro1266=) c.3803C= (p.Pro1268=) c.3883+1683C= (n.3883+1683C=) c.3506C= (p.Pro1169=) c.2966C= (p.Pro989=) c.2756C= (p.Pro919=) c.2258C= (p.Pro753=) n.3926+1683C= n.3840+1683C= n.3708+1683C= n.3519C= | |
| 1 | g.91266062G>T | CA945448 | HFM1 | c.3929C>A (p.Pro1310His) c.1564C>A n.1809+1683C>A c.2162C>A (p.Pro721His) c.3926C>A (p.Pro1309His) c.3848C>A (p.Pro1283His) c.3797C>A (p.Pro1266His) c.3803C>A (p.Pro1268His) c.3883+1683C>A (n.3883+1683C>A) c.3506C>A (p.Pro1169His) c.2966C>A (p.Pro989His) c.2756C>A (p.Pro919His) c.2258C>A (p.Pro753His) n.3926+1683C>A n.3840+1683C>A n.3708+1683C>A n.3519C>A | dbSNP ExAC gnomAD v2 |
| 1 | g.91266063G>A | CA341049376 | HFM1 | c.3928C>T (p.Pro1310Ser) c.1563C>T n.1809+1682C>T c.2161C>T (p.Pro721Ser) c.3925C>T (p.Pro1309Ser) c.3847C>T (p.Pro1283Ser) c.3796C>T (p.Pro1266Ser) c.3802C>T (p.Pro1268Ser) c.3883+1682C>T (n.3883+1682C>T) c.3505C>T (p.Pro1169Ser) c.2965C>T (p.Pro989Ser) c.2755C>T (p.Pro919Ser) c.2257C>T (p.Pro753Ser) n.3926+1682C>T n.3840+1682C>T n.3708+1682C>T n.3518C>T | |
| 1 | g.91266063G>C | CA341049378 | HFM1 | c.3928C>G (p.Pro1310Ala) c.1563C>G n.1809+1682C>G c.2161C>G (p.Pro721Ala) c.3925C>G (p.Pro1309Ala) c.3847C>G (p.Pro1283Ala) c.3796C>G (p.Pro1266Ala) c.3802C>G (p.Pro1268Ala) c.3883+1682C>G (n.3883+1682C>G) c.3505C>G (p.Pro1169Ala) c.2965C>G (p.Pro989Ala) c.2755C>G (p.Pro919Ala) c.2257C>G (p.Pro753Ala) n.3926+1682C>G n.3840+1682C>G n.3708+1682C>G n.3518C>G | |
| 1 | g.91266063G>T | CA341049381 | HFM1 | c.3928C>A (p.Pro1310Thr) c.1563C>A n.1809+1682C>A c.2161C>A (p.Pro721Thr) c.3925C>A (p.Pro1309Thr) c.3847C>A (p.Pro1283Thr) c.3796C>A (p.Pro1266Thr) c.3802C>A (p.Pro1268Thr) c.3883+1682C>A (n.3883+1682C>A) c.3505C>A (p.Pro1169Thr) c.2965C>A (p.Pro989Thr) c.2755C>A (p.Pro919Thr) c.2257C>A (p.Pro753Thr) n.3926+1682C>A n.3840+1682C>A n.3708+1682C>A n.3518C>A | |
| 1 | g.91266064T>A | CA418742032 | HFM1 | c.3927A>T (p.Leu1309=) c.1562A>T n.1809+1681A>T c.2160A>T (p.Leu720=) c.3924A>T (p.Leu1308=) c.3846A>T (p.Leu1282=) c.3795A>T (p.Leu1265=) c.3801A>T (p.Leu1267=) c.3883+1681A>T (n.3883+1681A>T) c.3504A>T (p.Leu1168=) c.2964A>T (p.Leu988=) c.2754A>T (p.Leu918=) c.2256A>T (p.Leu752=) n.3926+1681A>T n.3840+1681A>T n.3708+1681A>T n.3517A>T | |
| 1 | g.91266064T>C | CA418742033 | HFM1 | c.3927A>G (p.Leu1309=) c.1562A>G n.1809+1681A>G c.2160A>G (p.Leu720=) c.3924A>G (p.Leu1308=) c.3846A>G (p.Leu1282=) c.3795A>G (p.Leu1265=) c.3801A>G (p.Leu1267=) c.3883+1681A>G (n.3883+1681A>G) c.3504A>G (p.Leu1168=) c.2964A>G (p.Leu988=) c.2754A>G (p.Leu918=) c.2256A>G (p.Leu752=) n.3926+1681A>G n.3840+1681A>G n.3708+1681A>G n.3517A>G | |
| 1 | g.91266064T>G | CA418742034 | HFM1 | c.3927A>C (p.Leu1309=) c.1562A>C n.1809+1681A>C c.2160A>C (p.Leu720=) c.3924A>C (p.Leu1308=) c.3846A>C (p.Leu1282=) c.3795A>C (p.Leu1265=) c.3801A>C (p.Leu1267=) c.3883+1681A>C (n.3883+1681A>C) c.3504A>C (p.Leu1168=) c.2964A>C (p.Leu988=) c.2754A>C (p.Leu918=) c.2256A>C (p.Leu752=) n.3926+1681A>C n.3840+1681A>C n.3708+1681A>C n.3517A>C | |
| 1 | g.91266065del | CA2574429830 | HFM1 | c.3926del (p.Leu1309HisfsTer?) c.1561del n.1809+1680del c.2159del (p.Leu720HisfsTer?) c.3923del (p.Leu1308HisfsTer?) c.3845del (p.Leu1282HisfsTer?) c.3794del (p.Leu1265HisfsTer?) c.3800del (p.Leu1267HisfsTer?) c.3883+1680del (n.3883+1680del) c.3503del (p.Leu1168HisfsTer?) c.2963del (p.Leu988HisfsTer?) c.2753del (p.Leu918HisfsTer?) c.2255del (p.Leu752HisfsTer?) n.3926+1680del n.3840+1680del n.3708+1680del n.3516del | gnomAD v4 |
| 1 | g.91266065A>C | CA341049384 | HFM1 | c.3926T>G (p.Leu1309Arg) c.1561T>G n.1809+1680T>G c.2159T>G (p.Leu720Arg) c.3923T>G (p.Leu1308Arg) c.3845T>G (p.Leu1282Arg) c.3794T>G (p.Leu1265Arg) c.3800T>G (p.Leu1267Arg) c.3883+1680T>G (n.3883+1680T>G) c.3503T>G (p.Leu1168Arg) c.2963T>G (p.Leu988Arg) c.2753T>G (p.Leu918Arg) c.2255T>G (p.Leu752Arg) n.3926+1680T>G n.3840+1680T>G n.3708+1680T>G n.3516T>G | |
| 1 | g.91266065A>G | CA341049386 | HFM1 | c.3926T>C (p.Leu1309Pro) c.1561T>C n.1809+1680T>C c.2159T>C (p.Leu720Pro) c.3923T>C (p.Leu1308Pro) c.3845T>C (p.Leu1282Pro) c.3794T>C (p.Leu1265Pro) c.3800T>C (p.Leu1267Pro) c.3883+1680T>C (n.3883+1680T>C) c.3503T>C (p.Leu1168Pro) c.2963T>C (p.Leu988Pro) c.2753T>C (p.Leu918Pro) c.2255T>C (p.Leu752Pro) n.3926+1680T>C n.3840+1680T>C n.3708+1680T>C n.3516T>C | COSMIC |
| 1 | g.91266065A>T | CA341049389 | HFM1 | c.3926T>A (p.Leu1309Gln) c.1561T>A n.1809+1680T>A c.2159T>A (p.Leu720Gln) c.3923T>A (p.Leu1308Gln) c.3845T>A (p.Leu1282Gln) c.3794T>A (p.Leu1265Gln) c.3800T>A (p.Leu1267Gln) c.3883+1680T>A (n.3883+1680T>A) c.3503T>A (p.Leu1168Gln) c.2963T>A (p.Leu988Gln) c.2753T>A (p.Leu918Gln) c.2255T>A (p.Leu752Gln) n.3926+1680T>A n.3840+1680T>A n.3708+1680T>A n.3516T>A | |
| 1 | g.91266065dup | CA2574429831 | HFM1 | c.3926dup (p.Pro1310ThrfsTer22) c.1561dup n.1809+1680dup c.2159dup (p.Pro721ThrfsTer22) c.3923dup (p.Pro1309ThrfsTer22) c.3845dup (p.Pro1283ThrfsTer22) c.3794dup (p.Pro1266ThrfsTer22) c.3926dup (p.Pro1310ThrfsTer?) c.3800dup (p.Pro1268ThrfsTer22) c.3883+1680dup (n.3883+1680dup) c.3503dup (p.Pro1169ThrfsTer22) c.2963dup (p.Pro989ThrfsTer22) c.2753dup (p.Pro919ThrfsTer22) c.2255dup (p.Pro753ThrfsTer22) n.3926+1680dup n.3840+1680dup n.3708+1680dup n.3516dup | |
| 1 | g.91266066G>A | CA418742035 | HFM1 | c.3925C>T (p.Leu1309=) c.1560C>T n.1809+1679C>T c.2158C>T (p.Leu720=) c.3922C>T (p.Leu1308=) c.3844C>T (p.Leu1282=) c.3793C>T (p.Leu1265=) c.3799C>T (p.Leu1267=) c.3883+1679C>T (n.3883+1679C>T) c.3502C>T (p.Leu1168=) c.2962C>T (p.Leu988=) c.2752C>T (p.Leu918=) c.2254C>T (p.Leu752=) n.3926+1679C>T n.3840+1679C>T n.3708+1679C>T n.3515C>T | |
| 1 | g.91266066G>C | CA341049391 | HFM1 | c.3925C>G (p.Leu1309Val) c.1560C>G n.1809+1679C>G c.2158C>G (p.Leu720Val) c.3922C>G (p.Leu1308Val) c.3844C>G (p.Leu1282Val) c.3793C>G (p.Leu1265Val) c.3799C>G (p.Leu1267Val) c.3883+1679C>G (n.3883+1679C>G) c.3502C>G (p.Leu1168Val) c.2962C>G (p.Leu988Val) c.2752C>G (p.Leu918Val) c.2254C>G (p.Leu752Val) n.3926+1679C>G n.3840+1679C>G n.3708+1679C>G n.3515C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.91266066G= | CA2478485096 | HFM1 | c.3925C= (p.Leu1309=) c.1560C= n.1809+1679C= c.2158C= (p.Leu720=) c.3922C= (p.Leu1308=) c.3844C= (p.Leu1282=) c.3793C= (p.Leu1265=) c.3799C= (p.Leu1267=) c.3883+1679C= (n.3883+1679C=) c.3502C= (p.Leu1168=) c.2962C= (p.Leu988=) c.2752C= (p.Leu918=) c.2254C= (p.Leu752=) n.3926+1679C= n.3840+1679C= n.3708+1679C= n.3515C= | |
| 1 | g.91266066G>T | CA341049395 | HFM1 | c.3925C>A (p.Leu1309Ile) c.1560C>A n.1809+1679C>A c.2158C>A (p.Leu720Ile) c.3922C>A (p.Leu1308Ile) c.3844C>A (p.Leu1282Ile) c.3793C>A (p.Leu1265Ile) c.3799C>A (p.Leu1267Ile) c.3883+1679C>A (n.3883+1679C>A) c.3502C>A (p.Leu1168Ile) c.2962C>A (p.Leu988Ile) c.2752C>A (p.Leu918Ile) c.2254C>A (p.Leu752Ile) n.3926+1679C>A n.3840+1679C>A n.3708+1679C>A n.3515C>A | |
| 1 | g.91266067C>A | CA341049401 | HFM1 | c.3924G>T (p.Lys1308Asn) c.1559G>T n.1809+1678G>T c.2157G>T (p.Lys719Asn) c.3921G>T (p.Lys1307Asn) c.3843G>T (p.Lys1281Asn) c.3792G>T (p.Lys1264Asn) c.3798G>T (p.Lys1266Asn) c.3883+1678G>T (n.3883+1678G>T) c.3501G>T (p.Lys1167Asn) c.2961G>T (p.Lys987Asn) c.2751G>T (p.Lys917Asn) c.2253G>T (p.Lys751Asn) n.3926+1678G>T n.3840+1678G>T n.3708+1678G>T n.3514G>T | |
| 1 | g.91266067C>G | CA341049398 | HFM1 | c.3924G>C (p.Lys1308Asn) c.1559G>C n.1809+1678G>C c.2157G>C (p.Lys719Asn) c.3921G>C (p.Lys1307Asn) c.3843G>C (p.Lys1281Asn) c.3792G>C (p.Lys1264Asn) c.3798G>C (p.Lys1266Asn) c.3883+1678G>C (n.3883+1678G>C) c.3501G>C (p.Lys1167Asn) c.2961G>C (p.Lys987Asn) c.2751G>C (p.Lys917Asn) c.2253G>C (p.Lys751Asn) n.3926+1678G>C n.3840+1678G>C n.3708+1678G>C n.3514G>C | |
| 1 | g.91266067C>T | CA418742036 | HFM1 | c.3924G>A (p.Lys1308=) c.1559G>A n.1809+1678G>A c.2157G>A (p.Lys719=) c.3921G>A (p.Lys1307=) c.3843G>A (p.Lys1281=) c.3792G>A (p.Lys1264=) c.3798G>A (p.Lys1266=) c.3883+1678G>A (n.3883+1678G>A) c.3501G>A (p.Lys1167=) c.2961G>A (p.Lys987=) c.2751G>A (p.Lys917=) c.2253G>A (p.Lys751=) n.3926+1678G>A n.3840+1678G>A n.3708+1678G>A n.3514G>A | |
| 1 | g.91266068T>A | CA341049404 | HFM1 | c.3923A>T (p.Lys1308Met) c.1558A>T n.1809+1677A>T c.2156A>T (p.Lys719Met) c.3920A>T (p.Lys1307Met) c.3842A>T (p.Lys1281Met) c.3791A>T (p.Lys1264Met) c.3797A>T (p.Lys1266Met) c.3883+1677A>T (n.3883+1677A>T) c.3500A>T (p.Lys1167Met) c.2960A>T (p.Lys987Met) c.2750A>T (p.Lys917Met) c.2252A>T (p.Lys751Met) n.3926+1677A>T n.3840+1677A>T n.3708+1677A>T n.3513A>T | |
| 1 | g.91266068T>C | CA341049407 | HFM1 | c.3923A>G (p.Lys1308Arg) c.1558A>G n.1809+1677A>G c.2156A>G (p.Lys719Arg) c.3920A>G (p.Lys1307Arg) c.3842A>G (p.Lys1281Arg) c.3791A>G (p.Lys1264Arg) c.3797A>G (p.Lys1266Arg) c.3883+1677A>G (n.3883+1677A>G) c.3500A>G (p.Lys1167Arg) c.2960A>G (p.Lys987Arg) c.2750A>G (p.Lys917Arg) c.2252A>G (p.Lys751Arg) n.3926+1677A>G n.3840+1677A>G n.3708+1677A>G n.3513A>G | |
| 1 | g.91266068T>G | CA341049409 | HFM1 | c.3923A>C (p.Lys1308Thr) c.1558A>C n.1809+1677A>C c.2156A>C (p.Lys719Thr) c.3920A>C (p.Lys1307Thr) c.3842A>C (p.Lys1281Thr) c.3791A>C (p.Lys1264Thr) c.3797A>C (p.Lys1266Thr) c.3883+1677A>C (n.3883+1677A>C) c.3500A>C (p.Lys1167Thr) c.2960A>C (p.Lys987Thr) c.2750A>C (p.Lys917Thr) c.2252A>C (p.Lys751Thr) n.3926+1677A>C n.3840+1677A>C n.3708+1677A>C n.3513A>C | COSMIC |
| 1 | g.91266069T>A | CA341049412 | HFM1 | c.3922A>T (p.Lys1308Ter) c.1557A>T n.1809+1676A>T c.2155A>T (p.Lys719Ter) c.3919A>T (p.Lys1307Ter) c.3841A>T (p.Lys1281Ter) c.3790A>T (p.Lys1264Ter) c.3796A>T (p.Lys1266Ter) c.3883+1676A>T (n.3883+1676A>T) c.3499A>T (p.Lys1167Ter) c.2959A>T (p.Lys987Ter) c.2749A>T (p.Lys917Ter) c.2251A>T (p.Lys751Ter) n.3926+1676A>T n.3840+1676A>T n.3708+1676A>T n.3512A>T | |
| 1 | g.91266069T>C | CA341049415 | HFM1 | c.3922A>G (p.Lys1308Glu) c.1557A>G n.1809+1676A>G c.2155A>G (p.Lys719Glu) c.3919A>G (p.Lys1307Glu) c.3841A>G (p.Lys1281Glu) c.3790A>G (p.Lys1264Glu) c.3796A>G (p.Lys1266Glu) c.3883+1676A>G (n.3883+1676A>G) c.3499A>G (p.Lys1167Glu) c.2959A>G (p.Lys987Glu) c.2749A>G (p.Lys917Glu) c.2251A>G (p.Lys751Glu) n.3926+1676A>G n.3840+1676A>G n.3708+1676A>G n.3512A>G | |
| 1 | g.91266069T>G | CA341049418 | HFM1 | c.3922A>C (p.Lys1308Gln) c.1557A>C n.1809+1676A>C c.2155A>C (p.Lys719Gln) c.3919A>C (p.Lys1307Gln) c.3841A>C (p.Lys1281Gln) c.3790A>C (p.Lys1264Gln) c.3796A>C (p.Lys1266Gln) c.3883+1676A>C (n.3883+1676A>C) c.3499A>C (p.Lys1167Gln) c.2959A>C (p.Lys987Gln) c.2749A>C (p.Lys917Gln) c.2251A>C (p.Lys751Gln) n.3926+1676A>C n.3840+1676A>C n.3708+1676A>C n.3512A>C | |
| 1 | g.91266070A>C | CA341049424 | HFM1 | c.3921T>G (p.Ser1307Arg) c.1556T>G n.1809+1675T>G c.2154T>G (p.Ser718Arg) c.3918T>G (p.Ser1306Arg) c.3840T>G (p.Ser1280Arg) c.3789T>G (p.Ser1263Arg) c.3795T>G (p.Ser1265Arg) c.3883+1675T>G (n.3883+1675T>G) c.3498T>G (p.Ser1166Arg) c.2958T>G (p.Ser986Arg) c.2748T>G (p.Ser916Arg) c.2250T>G (p.Ser750Arg) n.3926+1675T>G n.3840+1675T>G n.3708+1675T>G n.3511T>G | |
| 1 | g.91266070A>G | CA418742037 | HFM1 | c.3921T>C (p.Ser1307=) c.1556T>C n.1809+1675T>C c.2154T>C (p.Ser718=) c.3918T>C (p.Ser1306=) c.3840T>C (p.Ser1280=) c.3789T>C (p.Ser1263=) c.3795T>C (p.Ser1265=) c.3883+1675T>C (n.3883+1675T>C) c.3498T>C (p.Ser1166=) c.2958T>C (p.Ser986=) c.2748T>C (p.Ser916=) c.2250T>C (p.Ser750=) n.3926+1675T>C n.3840+1675T>C n.3708+1675T>C n.3511T>C | |
| 1 | g.91266070A>T | CA341049422 | HFM1 | c.3921T>A (p.Ser1307Arg) c.1556T>A n.1809+1675T>A c.2154T>A (p.Ser718Arg) c.3918T>A (p.Ser1306Arg) c.3840T>A (p.Ser1280Arg) c.3789T>A (p.Ser1263Arg) c.3795T>A (p.Ser1265Arg) c.3883+1675T>A (n.3883+1675T>A) c.3498T>A (p.Ser1166Arg) c.2958T>A (p.Ser986Arg) c.2748T>A (p.Ser916Arg) c.2250T>A (p.Ser750Arg) n.3926+1675T>A n.3840+1675T>A n.3708+1675T>A n.3511T>A | |
| 1 | g.91266071C>A | CA341049426 | HFM1 | c.3920G>T (p.Ser1307Ile) c.1555G>T n.1809+1674G>T c.2153G>T (p.Ser718Ile) c.3917G>T (p.Ser1306Ile) c.3839G>T (p.Ser1280Ile) c.3788G>T (p.Ser1263Ile) c.3794G>T (p.Ser1265Ile) c.3883+1674G>T (n.3883+1674G>T) c.3497G>T (p.Ser1166Ile) c.2957G>T (p.Ser986Ile) c.2747G>T (p.Ser916Ile) c.2249G>T (p.Ser750Ile) n.3926+1674G>T n.3840+1674G>T n.3708+1674G>T n.3510G>T | |
| 1 | g.91266071C>G | CA341049428 | HFM1 | c.3920G>C (p.Ser1307Thr) c.1555G>C n.1809+1674G>C c.2153G>C (p.Ser718Thr) c.3917G>C (p.Ser1306Thr) c.3839G>C (p.Ser1280Thr) c.3788G>C (p.Ser1263Thr) c.3794G>C (p.Ser1265Thr) c.3883+1674G>C (n.3883+1674G>C) c.3497G>C (p.Ser1166Thr) c.2957G>C (p.Ser986Thr) c.2747G>C (p.Ser916Thr) c.2249G>C (p.Ser750Thr) n.3926+1674G>C n.3840+1674G>C n.3708+1674G>C n.3510G>C | gnomAD v4 |
| 1 | g.91266071C>T | CA341049430 | HFM1 | c.3920G>A (p.Ser1307Asn) c.1555G>A n.1809+1674G>A c.2153G>A (p.Ser718Asn) c.3917G>A (p.Ser1306Asn) c.3839G>A (p.Ser1280Asn) c.3788G>A (p.Ser1263Asn) c.3794G>A (p.Ser1265Asn) c.3883+1674G>A (n.3883+1674G>A) c.3497G>A (p.Ser1166Asn) c.2957G>A (p.Ser986Asn) c.2747G>A (p.Ser916Asn) c.2249G>A (p.Ser750Asn) n.3926+1674G>A n.3840+1674G>A n.3708+1674G>A n.3510G>A | |
| 1 | g.91266072T>A | CA341049434 | HFM1 | c.3919A>T (p.Ser1307Cys) c.1554A>T n.1809+1673A>T c.2152A>T (p.Ser718Cys) c.3916A>T (p.Ser1306Cys) c.3838A>T (p.Ser1280Cys) c.3787A>T (p.Ser1263Cys) c.3793A>T (p.Ser1265Cys) c.3883+1673A>T (n.3883+1673A>T) c.3496A>T (p.Ser1166Cys) c.2956A>T (p.Ser986Cys) c.2746A>T (p.Ser916Cys) c.2248A>T (p.Ser750Cys) n.3926+1673A>T n.3840+1673A>T n.3708+1673A>T n.3509A>T | |
| 1 | g.91266072T>C | CA341049436 | HFM1 | c.3919A>G (p.Ser1307Gly) c.1554A>G n.1809+1673A>G c.2152A>G (p.Ser718Gly) c.3916A>G (p.Ser1306Gly) c.3838A>G (p.Ser1280Gly) c.3787A>G (p.Ser1263Gly) c.3793A>G (p.Ser1265Gly) c.3883+1673A>G (n.3883+1673A>G) c.3496A>G (p.Ser1166Gly) c.2956A>G (p.Ser986Gly) c.2746A>G (p.Ser916Gly) c.2248A>G (p.Ser750Gly) n.3926+1673A>G n.3840+1673A>G n.3708+1673A>G n.3509A>G | gnomAD v4 |
| 1 | g.91266072T>G | CA341049439 | HFM1 | c.3919A>C (p.Ser1307Arg) c.1554A>C n.1809+1673A>C c.2152A>C (p.Ser718Arg) c.3916A>C (p.Ser1306Arg) c.3838A>C (p.Ser1280Arg) c.3787A>C (p.Ser1263Arg) c.3793A>C (p.Ser1265Arg) c.3883+1673A>C (n.3883+1673A>C) c.3496A>C (p.Ser1166Arg) c.2956A>C (p.Ser986Arg) c.2746A>C (p.Ser916Arg) c.2248A>C (p.Ser750Arg) n.3926+1673A>C n.3840+1673A>C n.3708+1673A>C n.3509A>C | |
| 1 | g.91266073T>A | CA418742038 | HFM1 | c.3918A>T (p.Gly1306=) c.1553A>T n.1809+1672A>T c.2151A>T (p.Gly717=) c.3915A>T (p.Gly1305=) c.3837A>T (p.Gly1279=) c.3786A>T (p.Gly1262=) c.3792A>T (p.Gly1264=) c.3883+1672A>T (n.3883+1672A>T) c.3495A>T (p.Gly1165=) c.2955A>T (p.Gly985=) c.2745A>T (p.Gly915=) c.2247A>T (p.Gly749=) n.3926+1672A>T n.3840+1672A>T n.3708+1672A>T n.3508A>T | |
| 1 | g.91266073T>C | CA418742039 | HFM1 | c.3918A>G (p.Gly1306=) c.1553A>G n.1809+1672A>G c.2151A>G (p.Gly717=) c.3915A>G (p.Gly1305=) c.3837A>G (p.Gly1279=) c.3786A>G (p.Gly1262=) c.3792A>G (p.Gly1264=) c.3883+1672A>G (n.3883+1672A>G) c.3495A>G (p.Gly1165=) c.2955A>G (p.Gly985=) c.2745A>G (p.Gly915=) c.2247A>G (p.Gly749=) n.3926+1672A>G n.3840+1672A>G n.3708+1672A>G n.3508A>G | |
| 1 | g.91266073T>G | CA418742040 | HFM1 | c.3918A>C (p.Gly1306=) c.1553A>C n.1809+1672A>C c.2151A>C (p.Gly717=) c.3915A>C (p.Gly1305=) c.3837A>C (p.Gly1279=) c.3786A>C (p.Gly1262=) c.3792A>C (p.Gly1264=) c.3883+1672A>C (n.3883+1672A>C) c.3495A>C (p.Gly1165=) c.2955A>C (p.Gly985=) c.2745A>C (p.Gly915=) c.2247A>C (p.Gly749=) n.3926+1672A>C n.3840+1672A>C n.3708+1672A>C n.3508A>C | dbSNP |
| 1 | g.91266073T= | CA2478485097 | HFM1 | c.3918A= (p.Gly1306=) c.1553A= n.1809+1672A= c.2151A= (p.Gly717=) c.3915A= (p.Gly1305=) c.3837A= (p.Gly1279=) c.3786A= (p.Gly1262=) c.3792A= (p.Gly1264=) c.3883+1672A= (n.3883+1672A=) c.3495A= (p.Gly1165=) c.2955A= (p.Gly985=) c.2745A= (p.Gly915=) c.2247A= (p.Gly749=) n.3926+1672A= n.3840+1672A= n.3708+1672A= n.3508A= | |
| 1 | g.91266074C>A | CA341049442 | HFM1 | c.3917G>T (p.Gly1306Val) c.1552G>T n.1809+1671G>T c.2150G>T (p.Gly717Val) c.3914G>T (p.Gly1305Val) c.3836G>T (p.Gly1279Val) c.3785G>T (p.Gly1262Val) c.3791G>T (p.Gly1264Val) c.3883+1671G>T (n.3883+1671G>T) c.3494G>T (p.Gly1165Val) c.2954G>T (p.Gly985Val) c.2744G>T (p.Gly915Val) c.2246G>T (p.Gly749Val) n.3926+1671G>T n.3840+1671G>T n.3708+1671G>T n.3507G>T | |
| 1 | g.91266074C= | CA2478485098 | HFM1 | c.3917G= (p.Gly1306=) c.1552G= n.1809+1671G= c.2150G= (p.Gly717=) c.3914G= (p.Gly1305=) c.3836G= (p.Gly1279=) c.3785G= (p.Gly1262=) c.3791G= (p.Gly1264=) c.3883+1671G= (n.3883+1671G=) c.3494G= (p.Gly1165=) c.2954G= (p.Gly985=) c.2744G= (p.Gly915=) c.2246G= (p.Gly749=) n.3926+1671G= n.3840+1671G= n.3708+1671G= n.3507G= |