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 |
|---|---|---|---|---|---|
| 6 | g.44230626_44230628del | CA2678935215 | POLR1C,SLC29A1 | c.648_650del (p.Ile217del) n.1046_1048del c.591_593del (p.Ile198del) c.335_337del n.837_839del c.885_887del (p.Ile296del) c.774_776del (p.Ile259del) c.726_728del (p.Ile243del) c.723_725del (p.Ile242del) c.777_779del (p.Ile260del) c.888_890del (p.Ile297del) c.946-211264_946-211262del (n.946-211264_946-211262del) | gnomAD v4 |
| 6 | g.44230625T>A | CA364306714 | POLR1C,SLC29A1 | c.647T>A (p.Ile216Asn) n.1045T>A c.590T>A (p.Ile197Asn) c.334T>A n.836T>A c.884T>A (p.Ile295Asn) c.773T>A (p.Ile258Asn) c.725T>A (p.Ile242Asn) c.722T>A (p.Ile241Asn) c.776T>A (p.Ile259Asn) c.887T>A (p.Ile296Asn) c.946-211265T>A (n.946-211265T>A) | |
| 6 | g.44230625T>C | CA3831632 | POLR1C,SLC29A1 | c.647T>C (p.Ile216Thr) n.1045T>C c.590T>C (p.Ile197Thr) c.334T>C n.836T>C c.884T>C (p.Ile295Thr) c.773T>C (p.Ile258Thr) c.725T>C (p.Ile242Thr) c.722T>C (p.Ile241Thr) c.776T>C (p.Ile259Thr) c.887T>C (p.Ile296Thr) c.946-211265T>C (n.946-211265T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44230625T>G | CA364306720 | POLR1C,SLC29A1 | c.647T>G (p.Ile216Ser) n.1045T>G c.590T>G (p.Ile197Ser) c.334T>G n.836T>G c.884T>G (p.Ile295Ser) c.773T>G (p.Ile258Ser) c.725T>G (p.Ile242Ser) c.722T>G (p.Ile241Ser) c.776T>G (p.Ile259Ser) c.887T>G (p.Ile296Ser) c.946-211265T>G (n.946-211265T>G) | |
| 6 | g.44230625T= | CA1624908510 | POLR1C,SLC29A1 | c.647T= (p.Ile216=) n.1045T= c.590T= (p.Ile197=) c.334T= n.836T= c.884T= (p.Ile295=) c.773T= (p.Ile258=) c.725T= (p.Ile242=) c.722T= (p.Ile241=) c.776T= (p.Ile259=) c.887T= (p.Ile296=) c.946-211265T= (n.946-211265T=) | |
| 6 | g.44230626C>A | CA450308565 | POLR1C,SLC29A1 | c.648C>A (p.Ile216=) n.1046C>A c.591C>A (p.Ile197=) c.335C>A n.837C>A c.885C>A (p.Ile295=) c.774C>A (p.Ile258=) c.726C>A (p.Ile242=) c.723C>A (p.Ile241=) c.777C>A (p.Ile259=) c.888C>A (p.Ile296=) c.946-211264C>A (n.946-211264C>A) | |
| 6 | g.44230626C>G | CA364306723 | POLR1C,SLC29A1 | c.648C>G (p.Ile216Met) n.1046C>G c.591C>G (p.Ile197Met) c.335C>G n.837C>G c.885C>G (p.Ile295Met) c.774C>G (p.Ile258Met) c.726C>G (p.Ile242Met) c.723C>G (p.Ile241Met) c.777C>G (p.Ile259Met) c.888C>G (p.Ile296Met) c.946-211264C>G (n.946-211264C>G) | |
| 6 | g.44230626C>T | CA450308566 | POLR1C,SLC29A1 | c.648C>T (p.Ile216=) n.1046C>T c.591C>T (p.Ile197=) c.335C>T n.837C>T c.885C>T (p.Ile295=) c.774C>T (p.Ile258=) c.726C>T (p.Ile242=) c.723C>T (p.Ile241=) c.777C>T (p.Ile259=) c.888C>T (p.Ile296=) c.946-211264C>T (n.946-211264C>T) | |
| 6 | g.44230627A= | CA1624908513 | POLR1C,SLC29A1 | c.649A= (p.Ile217=) n.1047A= c.592A= (p.Ile198=) c.336A= n.838A= c.886A= (p.Ile296=) c.775A= (p.Ile259=) c.727A= (p.Ile243=) c.724A= (p.Ile242=) c.778A= (p.Ile260=) c.889A= (p.Ile297=) c.946-211263A= (n.946-211263A=) | |
| 6 | g.44230627A>C | CA364306729 | POLR1C,SLC29A1 | c.649A>C (p.Ile217Leu) n.1047A>C c.592A>C (p.Ile198Leu) c.336A>C n.838A>C c.886A>C (p.Ile296Leu) c.775A>C (p.Ile259Leu) c.727A>C (p.Ile243Leu) c.724A>C (p.Ile242Leu) c.778A>C (p.Ile260Leu) c.889A>C (p.Ile297Leu) c.946-211263A>C (n.946-211263A>C) | |
| 6 | g.44230627A>G | CA364306733 | POLR1C,SLC29A1 | c.649A>G (p.Ile217Val) n.1047A>G c.592A>G (p.Ile198Val) c.336A>G n.838A>G c.886A>G (p.Ile296Val) c.775A>G (p.Ile259Val) c.727A>G (p.Ile243Val) c.724A>G (p.Ile242Val) c.778A>G (p.Ile260Val) c.889A>G (p.Ile297Val) c.946-211263A>G (n.946-211263A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44230627A>T | CA364306736 | POLR1C,SLC29A1 | c.649A>T (p.Ile217Phe) n.1047A>T c.592A>T (p.Ile198Phe) c.336A>T n.838A>T c.886A>T (p.Ile296Phe) c.775A>T (p.Ile259Phe) c.727A>T (p.Ile243Phe) c.724A>T (p.Ile242Phe) c.778A>T (p.Ile260Phe) c.889A>T (p.Ile297Phe) c.946-211263A>T (n.946-211263A>T) | |
| 6 | g.44230628T>A | CA364306739 | POLR1C,SLC29A1 | c.650T>A (p.Ile217Asn) n.1048T>A c.593T>A (p.Ile198Asn) c.337T>A n.839T>A c.887T>A (p.Ile296Asn) c.776T>A (p.Ile259Asn) c.728T>A (p.Ile243Asn) c.725T>A (p.Ile242Asn) c.779T>A (p.Ile260Asn) c.890T>A (p.Ile297Asn) c.946-211262T>A (n.946-211262T>A) | |
| 6 | g.44230628T>C | CA3831633 | POLR1C,SLC29A1 | c.650T>C (p.Ile217Thr) n.1048T>C c.593T>C (p.Ile198Thr) c.337T>C n.839T>C c.887T>C (p.Ile296Thr) c.776T>C (p.Ile259Thr) c.728T>C (p.Ile243Thr) c.725T>C (p.Ile242Thr) c.779T>C (p.Ile260Thr) c.890T>C (p.Ile297Thr) c.946-211262T>C (n.946-211262T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44230628T>G | CA364306746 | POLR1C,SLC29A1 | c.650T>G (p.Ile217Ser) n.1048T>G c.593T>G (p.Ile198Ser) c.337T>G n.839T>G c.887T>G (p.Ile296Ser) c.776T>G (p.Ile259Ser) c.728T>G (p.Ile243Ser) c.725T>G (p.Ile242Ser) c.779T>G (p.Ile260Ser) c.890T>G (p.Ile297Ser) c.946-211262T>G (n.946-211262T>G) | |
| 6 | g.44230628T= | CA1624908516 | POLR1C,SLC29A1 | c.650T= (p.Ile217=) n.1048T= c.593T= (p.Ile198=) c.337T= n.839T= c.887T= (p.Ile296=) c.776T= (p.Ile259=) c.728T= (p.Ile243=) c.725T= (p.Ile242=) c.779T= (p.Ile260=) c.890T= (p.Ile297=) c.946-211262T= (n.946-211262T=) | |
| 6 | g.44230629T>A | CA450308567 | POLR1C,SLC29A1 | c.651T>A (p.Ile217=) n.1049T>A c.594T>A (p.Ile198=) c.338T>A n.840T>A c.888T>A (p.Ile296=) c.777T>A (p.Ile259=) c.729T>A (p.Ile243=) c.726T>A (p.Ile242=) c.780T>A (p.Ile260=) c.891T>A (p.Ile297=) c.946-211261T>A (n.946-211261T>A) | |
| 6 | g.44230629T>C | CA450308568 | POLR1C,SLC29A1 | c.651T>C (p.Ile217=) n.1049T>C c.594T>C (p.Ile198=) c.338T>C n.840T>C c.888T>C (p.Ile296=) c.777T>C (p.Ile259=) c.729T>C (p.Ile243=) c.726T>C (p.Ile242=) c.780T>C (p.Ile260=) c.891T>C (p.Ile297=) c.946-211261T>C (n.946-211261T>C) | |
| 6 | g.44230629T>G | CA364306752 | POLR1C,SLC29A1 | c.651T>G (p.Ile217Met) n.1049T>G c.594T>G (p.Ile198Met) c.338T>G n.840T>G c.888T>G (p.Ile296Met) c.777T>G (p.Ile259Met) c.729T>G (p.Ile243Met) c.726T>G (p.Ile242Met) c.780T>G (p.Ile260Met) c.891T>G (p.Ile297Met) c.946-211261T>G (n.946-211261T>G) | dbSNP |
| 6 | g.44230629T= | CA1624908518 | POLR1C,SLC29A1 | c.651T= (p.Ile217=) n.1049T= c.594T= (p.Ile198=) c.338T= n.840T= c.888T= (p.Ile296=) c.777T= (p.Ile259=) c.729T= (p.Ile243=) c.726T= (p.Ile242=) c.780T= (p.Ile260=) c.891T= (p.Ile297=) c.946-211261T= (n.946-211261T=) | |
| 6 | g.44230630T>A | CA364306756 | POLR1C,SLC29A1 | c.652T>A (p.Leu218Met) n.1050T>A c.595T>A (p.Leu199Met) c.339T>A n.841T>A c.889T>A (p.Leu297Met) c.778T>A (p.Leu260Met) c.730T>A (p.Leu244Met) c.727T>A (p.Leu243Met) c.781T>A (p.Leu261Met) c.892T>A (p.Leu298Met) c.946-211260T>A (n.946-211260T>A) | |
| 6 | g.44230630T>C | CA450308569 | POLR1C,SLC29A1 | c.652T>C (p.Leu218=) n.1050T>C c.595T>C (p.Leu199=) c.339T>C n.841T>C c.889T>C (p.Leu297=) c.778T>C (p.Leu260=) c.730T>C (p.Leu244=) c.727T>C (p.Leu243=) c.781T>C (p.Leu261=) c.892T>C (p.Leu298=) c.946-211260T>C (n.946-211260T>C) | |
| 6 | g.44230630T>G | CA364306760 | POLR1C,SLC29A1 | c.652T>G (p.Leu218Val) n.1050T>G c.595T>G (p.Leu199Val) c.339T>G n.841T>G c.889T>G (p.Leu297Val) c.778T>G (p.Leu260Val) c.730T>G (p.Leu244Val) c.727T>G (p.Leu243Val) c.781T>G (p.Leu261Val) c.892T>G (p.Leu298Val) c.946-211260T>G (n.946-211260T>G) | |
| 6 | g.44230631T>A | CA364306767 | POLR1C,SLC29A1 | c.653T>A (p.Leu218Ter) n.1051T>A c.596T>A (p.Leu199Ter) c.340T>A n.842T>A c.890T>A (p.Leu297Ter) c.779T>A (p.Leu260Ter) c.731T>A (p.Leu244Ter) c.728T>A (p.Leu243Ter) c.782T>A (p.Leu261Ter) c.893T>A (p.Leu298Ter) c.946-211259T>A (n.946-211259T>A) | |
| 6 | g.44230631T>C | CA364306773 | POLR1C,SLC29A1 | c.653T>C (p.Leu218Ser) n.1051T>C c.596T>C (p.Leu199Ser) c.340T>C n.842T>C c.890T>C (p.Leu297Ser) c.779T>C (p.Leu260Ser) c.731T>C (p.Leu244Ser) c.728T>C (p.Leu243Ser) c.782T>C (p.Leu261Ser) c.893T>C (p.Leu298Ser) c.946-211259T>C (n.946-211259T>C) | |
| 6 | g.44230631T>G | CA364306762 | POLR1C,SLC29A1 | c.653T>G (p.Leu218Trp) n.1051T>G c.596T>G (p.Leu199Trp) c.340T>G n.842T>G c.890T>G (p.Leu297Trp) c.779T>G (p.Leu260Trp) c.731T>G (p.Leu244Trp) c.728T>G (p.Leu243Trp) c.782T>G (p.Leu261Trp) c.893T>G (p.Leu298Trp) c.946-211259T>G (n.946-211259T>G) | |
| 6 | g.44230632G>A | CA450308570 | POLR1C,SLC29A1 | c.654G>A (p.Leu218=) n.1052G>A c.597G>A (p.Leu199=) c.341G>A n.843G>A c.891G>A (p.Leu297=) c.780G>A (p.Leu260=) c.732G>A (p.Leu244=) c.729G>A (p.Leu243=) c.783G>A (p.Leu261=) c.894G>A (p.Leu298=) c.946-211258G>A (n.946-211258G>A) | |
| 6 | g.44230632G>C | CA364306777 | POLR1C,SLC29A1 | c.654G>C (p.Leu218Phe) n.1052G>C c.597G>C (p.Leu199Phe) c.341G>C n.843G>C c.891G>C (p.Leu297Phe) c.780G>C (p.Leu260Phe) c.732G>C (p.Leu244Phe) c.729G>C (p.Leu243Phe) c.783G>C (p.Leu261Phe) c.894G>C (p.Leu298Phe) c.946-211258G>C (n.946-211258G>C) | |
| 6 | g.44230632G>T | CA364306781 | POLR1C,SLC29A1 | c.654G>T (p.Leu218Phe) n.1052G>T c.597G>T (p.Leu199Phe) c.341G>T n.843G>T c.891G>T (p.Leu297Phe) c.780G>T (p.Leu260Phe) c.732G>T (p.Leu244Phe) c.729G>T (p.Leu243Phe) c.783G>T (p.Leu261Phe) c.894G>T (p.Leu298Phe) c.946-211258G>T (n.946-211258G>T) | |
| 6 | g.44230633A>C | CA364306787 | POLR1C,SLC29A1 | c.655A>C (p.Thr219Pro) n.1053A>C c.598A>C (p.Thr200Pro) c.342A>C n.844A>C c.892A>C (p.Thr298Pro) c.781A>C (p.Thr261Pro) c.733A>C (p.Thr245Pro) c.730A>C (p.Thr244Pro) c.784A>C (p.Thr262Pro) c.895A>C (p.Thr299Pro) c.946-211257A>C (n.946-211257A>C) | |
| 6 | g.44230633A>G | CA364306790 | POLR1C,SLC29A1 | c.655A>G (p.Thr219Ala) n.1053A>G c.598A>G (p.Thr200Ala) c.342A>G n.844A>G c.892A>G (p.Thr298Ala) c.781A>G (p.Thr261Ala) c.733A>G (p.Thr245Ala) c.730A>G (p.Thr244Ala) c.784A>G (p.Thr262Ala) c.895A>G (p.Thr299Ala) c.946-211257A>G (n.946-211257A>G) | |
| 6 | g.44230633A>T | CA364306792 | POLR1C,SLC29A1 | c.655A>T (p.Thr219Ser) n.1053A>T c.598A>T (p.Thr200Ser) c.342A>T n.844A>T c.892A>T (p.Thr298Ser) c.781A>T (p.Thr261Ser) c.733A>T (p.Thr245Ser) c.730A>T (p.Thr244Ser) c.784A>T (p.Thr262Ser) c.895A>T (p.Thr299Ser) c.946-211257A>T (n.946-211257A>T) | |
| 6 | g.44230634C>A | CA364306796 | POLR1C,SLC29A1 | c.656C>A (p.Thr219Asn) n.1054C>A c.599C>A (p.Thr200Asn) c.343C>A n.845C>A c.893C>A (p.Thr298Asn) c.782C>A (p.Thr261Asn) c.734C>A (p.Thr245Asn) c.731C>A (p.Thr244Asn) c.785C>A (p.Thr262Asn) c.896C>A (p.Thr299Asn) c.946-211256C>A (n.946-211256C>A) | gnomAD v4 |
| 6 | g.44230634C>G | CA364306798 | POLR1C,SLC29A1 | c.656C>G (p.Thr219Ser) n.1054C>G c.599C>G (p.Thr200Ser) c.343C>G n.845C>G c.893C>G (p.Thr298Ser) c.782C>G (p.Thr261Ser) c.734C>G (p.Thr245Ser) c.731C>G (p.Thr244Ser) c.785C>G (p.Thr262Ser) c.896C>G (p.Thr299Ser) c.946-211256C>G (n.946-211256C>G) | |
| 6 | g.44230634C>T | CA364306801 | POLR1C,SLC29A1 | c.656C>T (p.Thr219Ile) n.1054C>T c.599C>T (p.Thr200Ile) c.343C>T n.845C>T c.893C>T (p.Thr298Ile) c.782C>T (p.Thr261Ile) c.734C>T (p.Thr245Ile) c.731C>T (p.Thr244Ile) c.785C>T (p.Thr262Ile) c.896C>T (p.Thr299Ile) c.946-211256C>T (n.946-211256C>T) | gnomAD v4 |
| 6 | g.44230635C>A | CA450308571 | POLR1C,SLC29A1 | c.657C>A (p.Thr219=) n.1055C>A c.600C>A (p.Thr200=) c.344C>A n.846C>A c.894C>A (p.Thr298=) c.783C>A (p.Thr261=) c.735C>A (p.Thr245=) c.732C>A (p.Thr244=) c.786C>A (p.Thr262=) c.897C>A (p.Thr299=) c.946-211255C>A (n.946-211255C>A) | |
| 6 | g.44230635C= | CA1624908523 | POLR1C,SLC29A1 | c.657C= (p.Thr219=) n.1055C= c.600C= (p.Thr200=) c.344C= n.846C= c.894C= (p.Thr298=) c.783C= (p.Thr261=) c.735C= (p.Thr245=) c.732C= (p.Thr244=) c.786C= (p.Thr262=) c.897C= (p.Thr299=) c.946-211255C= (n.946-211255C=) | |
| 6 | g.44230635C>G | CA450308572 | POLR1C,SLC29A1 | c.657C>G (p.Thr219=) n.1055C>G c.600C>G (p.Thr200=) c.344C>G n.846C>G c.894C>G (p.Thr298=) c.783C>G (p.Thr261=) c.735C>G (p.Thr245=) c.732C>G (p.Thr244=) c.786C>G (p.Thr262=) c.897C>G (p.Thr299=) c.946-211255C>G (n.946-211255C>G) | |
| 6 | g.44230635C>T | CA450308573 | POLR1C,SLC29A1 | c.657C>T (p.Thr219=) n.1055C>T c.600C>T (p.Thr200=) c.344C>T n.846C>T c.894C>T (p.Thr298=) c.783C>T (p.Thr261=) c.735C>T (p.Thr245=) c.732C>T (p.Thr244=) c.786C>T (p.Thr262=) c.897C>T (p.Thr299=) c.946-211255C>T (n.946-211255C>T) | dbSNP gnomAD v4 |
| 6 | g.44230636A>C | CA364306812 | POLR1C,SLC29A1 | c.658A>C (p.Ile220Leu) n.1056A>C c.601A>C (p.Ile201Leu) c.345A>C n.847A>C c.895A>C (p.Ile299Leu) c.784A>C (p.Ile262Leu) c.736A>C (p.Ile246Leu) c.733A>C (p.Ile245Leu) c.787A>C (p.Ile263Leu) c.898A>C (p.Ile300Leu) c.946-211254A>C (n.946-211254A>C) | |
| 6 | g.44230636A>G | CA364306815 | POLR1C,SLC29A1 | c.658A>G (p.Ile220Val) n.1056A>G c.601A>G (p.Ile201Val) c.345A>G n.847A>G c.895A>G (p.Ile299Val) c.784A>G (p.Ile262Val) c.736A>G (p.Ile246Val) c.733A>G (p.Ile245Val) c.787A>G (p.Ile263Val) c.898A>G (p.Ile300Val) c.946-211254A>G (n.946-211254A>G) | gnomAD v4 |
| 6 | g.44230636A>T | CA364306817 | POLR1C,SLC29A1 | c.658A>T (p.Ile220Phe) n.1056A>T c.601A>T (p.Ile201Phe) c.345A>T n.847A>T c.895A>T (p.Ile299Phe) c.784A>T (p.Ile262Phe) c.736A>T (p.Ile246Phe) c.733A>T (p.Ile245Phe) c.787A>T (p.Ile263Phe) c.898A>T (p.Ile300Phe) c.946-211254A>T (n.946-211254A>T) | |
| 6 | g.44230637T>A | CA364306828 | POLR1C,SLC29A1 | c.659T>A (p.Ile220Asn) n.1057T>A c.602T>A (p.Ile201Asn) c.346T>A n.848T>A c.896T>A (p.Ile299Asn) c.785T>A (p.Ile262Asn) c.737T>A (p.Ile246Asn) c.734T>A (p.Ile245Asn) c.788T>A (p.Ile263Asn) c.899T>A (p.Ile300Asn) c.946-211253T>A (n.946-211253T>A) | |
| 6 | g.44230637T>C | CA364306825 | POLR1C,SLC29A1 | c.659T>C (p.Ile220Thr) n.1057T>C c.602T>C (p.Ile201Thr) c.346T>C n.848T>C c.896T>C (p.Ile299Thr) c.785T>C (p.Ile262Thr) c.737T>C (p.Ile246Thr) c.734T>C (p.Ile245Thr) c.788T>C (p.Ile263Thr) c.899T>C (p.Ile300Thr) c.946-211253T>C (n.946-211253T>C) | dbSNP |
| 6 | g.44230637T>G | CA364306821 | POLR1C,SLC29A1 | c.659T>G (p.Ile220Ser) n.1057T>G c.602T>G (p.Ile201Ser) c.346T>G n.848T>G c.896T>G (p.Ile299Ser) c.785T>G (p.Ile262Ser) c.737T>G (p.Ile246Ser) c.734T>G (p.Ile245Ser) c.788T>G (p.Ile263Ser) c.899T>G (p.Ile300Ser) c.946-211253T>G (n.946-211253T>G) | |
| 6 | g.44230637T= | CA1624908529 | POLR1C,SLC29A1 | c.659T= (p.Ile220=) n.1057T= c.602T= (p.Ile201=) c.346T= n.848T= c.896T= (p.Ile299=) c.785T= (p.Ile262=) c.737T= (p.Ile246=) c.734T= (p.Ile245=) c.788T= (p.Ile263=) c.899T= (p.Ile300=) c.946-211253T= (n.946-211253T=) | |
| 6 | g.44230638C>A | CA450308574 | POLR1C,SLC29A1 | c.660C>A (p.Ile220=) n.1058C>A c.603C>A (p.Ile201=) c.347C>A n.849C>A c.897C>A (p.Ile299=) c.786C>A (p.Ile262=) c.738C>A (p.Ile246=) c.735C>A (p.Ile245=) c.789C>A (p.Ile263=) c.900C>A (p.Ile300=) c.946-211252C>A (n.946-211252C>A) | |
| 6 | g.44230638C>G | CA364306832 | POLR1C,SLC29A1 | c.660C>G (p.Ile220Met) n.1058C>G c.603C>G (p.Ile201Met) c.347C>G n.849C>G c.897C>G (p.Ile299Met) c.786C>G (p.Ile262Met) c.738C>G (p.Ile246Met) c.735C>G (p.Ile245Met) c.789C>G (p.Ile263Met) c.900C>G (p.Ile300Met) c.946-211252C>G (n.946-211252C>G) | |
| 6 | g.44230638C>T | CA450308575 | POLR1C,SLC29A1 | c.660C>T (p.Ile220=) n.1058C>T c.603C>T (p.Ile201=) c.347C>T n.849C>T c.897C>T (p.Ile299=) c.786C>T (p.Ile262=) c.738C>T (p.Ile246=) c.735C>T (p.Ile245=) c.789C>T (p.Ile263=) c.900C>T (p.Ile300=) c.946-211252C>T (n.946-211252C>T) | gnomAD v4 |
| 6 | g.44230639A= | CA1624908535 | POLR1C,SLC29A1 | c.661A= (p.Ile221=) n.1059A= c.604A= (p.Ile202=) c.348A= n.850A= c.898A= (p.Ile300=) c.787A= (p.Ile263=) c.739A= (p.Ile247=) c.736A= (p.Ile246=) c.790A= (p.Ile264=) c.901A= (p.Ile301=) c.946-211251A= (n.946-211251A=) |