| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73644456T>A | CA364718792 | SLC17A5 | c.242A>T (p.Lys81Met) n.8A>T c.191A>T (p.Lys64Met) c.44A>T (p.Lys15Met) c.61-2532A>T (n.61-2532A>T) c.263A>T (p.Lys88Met) | |
| 6 | g.73644456T>C | CA364718795 | SLC17A5 | c.242A>G (p.Lys81Arg) n.8A>G c.191A>G (p.Lys64Arg) c.44A>G (p.Lys15Arg) c.61-2532A>G (n.61-2532A>G) c.263A>G (p.Lys88Arg) | gnomAD v4 |
| 6 | g.73644456T>G | CA364718798 | SLC17A5 | c.242A>C (p.Lys81Thr) n.8A>C c.191A>C (p.Lys64Thr) c.44A>C (p.Lys15Thr) c.61-2532A>C (n.61-2532A>C) c.263A>C (p.Lys88Thr) | |
| 6 | g.73644457T>A | CA364718802 | SLC17A5 | c.241A>T (p.Lys81Ter) n.7A>T c.190A>T (p.Lys64Ter) c.43A>T (p.Lys15Ter) c.61-2533A>T (n.61-2533A>T) c.262A>T (p.Lys88Ter) | |
| 6 | g.73644457T>C | CA364718804 | SLC17A5 | c.241A>G (p.Lys81Glu) n.7A>G c.190A>G (p.Lys64Glu) c.43A>G (p.Lys15Glu) c.61-2533A>G (n.61-2533A>G) c.262A>G (p.Lys88Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644457T>G | CA364718807 | SLC17A5 | c.241A>C (p.Lys81Gln) n.7A>C c.190A>C (p.Lys64Gln) c.43A>C (p.Lys15Gln) c.61-2533A>C (n.61-2533A>C) c.262A>C (p.Lys88Gln) | |
| 6 | g.73644457T= | CA1638225515 | SLC17A5 | c.241A= (p.Lys81=) n.7A= c.190A= (p.Lys64=) c.43A= (p.Lys15=) c.61-2533A= (n.61-2533A=) c.262A= (p.Lys88=) | |
| 6 | g.73644458G>A | CA3890585 | SLC17A5 | c.240C>T (p.Ser80=) n.6C>T c.189C>T (p.Ser63=) c.42C>T (p.Ser14=) c.61-2534C>T (n.61-2534C>T) c.261C>T (p.Ser87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644458G>C | CA450912355 | SLC17A5 | c.240C>G (p.Ser80=) n.6C>G c.189C>G (p.Ser63=) c.42C>G (p.Ser14=) c.61-2534C>G (n.61-2534C>G) c.261C>G (p.Ser87=) | |
| 6 | g.73644458G= | CA1638225517 | SLC17A5 | c.240C= (p.Ser80=) n.6C= c.189C= (p.Ser63=) c.42C= (p.Ser14=) c.61-2534C= (n.61-2534C=) c.261C= (p.Ser87=) | |
| 6 | g.73644458G>T | CA3890586 | SLC17A5 | c.240C>A (p.Ser80=) n.6C>A c.189C>A (p.Ser63=) c.42C>A (p.Ser14=) c.61-2534C>A (n.61-2534C>A) c.261C>A (p.Ser87=) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.73644459G>A | CA364718813 | SLC17A5 | c.239C>T (p.Ser80Phe) n.5C>T c.188C>T (p.Ser63Phe) c.41C>T (p.Ser14Phe) c.61-2535C>T (n.61-2535C>T) c.260C>T (p.Ser87Phe) | gnomAD v4 |
| 6 | g.73644459G>C | CA364718817 | SLC17A5 | c.239C>G (p.Ser80Cys) n.5C>G c.188C>G (p.Ser63Cys) c.41C>G (p.Ser14Cys) c.61-2535C>G (n.61-2535C>G) c.260C>G (p.Ser87Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644459G= | CA1638225519 | SLC17A5 | c.239C= (p.Ser80=) n.5C= c.188C= (p.Ser63=) c.41C= (p.Ser14=) c.61-2535C= (n.61-2535C=) c.260C= (p.Ser87=) | |
| 6 | g.73644459G>T | CA364718818 | SLC17A5 | c.239C>A (p.Ser80Tyr) n.5C>A c.188C>A (p.Ser63Tyr) c.41C>A (p.Ser14Tyr) c.61-2535C>A (n.61-2535C>A) c.260C>A (p.Ser87Tyr) | |
| 6 | g.73644460A>C | CA364718822 | SLC17A5 | c.238T>G (p.Ser80Ala) n.4T>G c.187T>G (p.Ser63Ala) c.40T>G (p.Ser14Ala) c.61-2536T>G (n.61-2536T>G) c.259T>G (p.Ser87Ala) | |
| 6 | g.73644460A>G | CA364718823 | SLC17A5 | c.238T>C (p.Ser80Pro) n.4T>C c.187T>C (p.Ser63Pro) c.40T>C (p.Ser14Pro) c.61-2536T>C (n.61-2536T>C) c.259T>C (p.Ser87Pro) | |
| 6 | g.73644460A>T | CA364718826 | SLC17A5 | c.238T>A (p.Ser80Thr) n.4T>A c.187T>A (p.Ser63Thr) c.40T>A (p.Ser14Thr) c.61-2536T>A (n.61-2536T>A) c.259T>A (p.Ser87Thr) | |
| 6 | g.73644461A>C | CA450912358 | SLC17A5 | c.237T>G (p.Thr79=) n.3T>G c.186T>G (p.Thr62=) c.39T>G (p.Thr13=) c.61-2537T>G (n.61-2537T>G) c.258T>G (p.Thr86=) | |
| 6 | g.73644461A>G | CA450912357 | SLC17A5 | c.237T>C (p.Thr79=) n.3T>C c.186T>C (p.Thr62=) c.39T>C (p.Thr13=) c.61-2537T>C (n.61-2537T>C) c.258T>C (p.Thr86=) | |
| 6 | g.73644461A>T | CA450912356 | SLC17A5 | c.237T>A (p.Thr79=) n.3T>A c.186T>A (p.Thr62=) c.39T>A (p.Thr13=) c.61-2537T>A (n.61-2537T>A) c.258T>A (p.Thr86=) | |
| 6 | g.73644462G>A | CA364718827 | SLC17A5 | c.236C>T (p.Thr79Ile) n.2C>T c.185C>T (p.Thr62Ile) c.38C>T (p.Thr13Ile) c.61-2538C>T (n.61-2538C>T) c.257C>T (p.Thr86Ile) | gnomAD v4 |
| 6 | g.73644462G>C | CA364718830 | SLC17A5 | c.236C>G (p.Thr79Ser) n.2C>G c.185C>G (p.Thr62Ser) c.38C>G (p.Thr13Ser) c.61-2538C>G (n.61-2538C>G) c.257C>G (p.Thr86Ser) | |
| 6 | g.73644462G>T | CA364718832 | SLC17A5 | c.236C>A (p.Thr79Asn) n.2C>A c.185C>A (p.Thr62Asn) c.38C>A (p.Thr13Asn) c.61-2538C>A (n.61-2538C>A) c.257C>A (p.Thr86Asn) | gnomAD v4 |
| 6 | g.73644463T>A | CA364718835 | SLC17A5 | c.235A>T (p.Thr79Ser) n.1A>T c.184A>T (p.Thr62Ser) c.37A>T (p.Thr13Ser) c.61-2539A>T (n.61-2539A>T) c.256A>T (p.Thr86Ser) | |
| 6 | g.73644463T>C | CA364718837 | SLC17A5 | c.235A>G (p.Thr79Ala) n.1A>G c.184A>G (p.Thr62Ala) c.37A>G (p.Thr13Ala) c.61-2539A>G (n.61-2539A>G) c.256A>G (p.Thr86Ala) | gnomAD v4 COSMIC |
| 6 | g.73644463T>G | CA364718839 | SLC17A5 | c.235A>C (p.Thr79Pro) n.1A>C c.184A>C (p.Thr62Pro) c.37A>C (p.Thr13Pro) c.61-2539A>C (n.61-2539A>C) c.256A>C (p.Thr86Pro) | |
| 6 | g.73644464T>A | CA364718844 | SLC17A5 | c.234A>T (p.Arg78Ser) c.183A>T (p.Arg61Ser) c.36A>T (p.Arg12Ser) c.61-2540A>T (n.61-2540A>T) c.255A>T (p.Arg85Ser) | |
| 6 | g.73644464T>C | CA450912359 | SLC17A5 | c.234A>G (p.Arg78=) c.183A>G (p.Arg61=) c.36A>G (p.Arg12=) c.61-2540A>G (n.61-2540A>G) c.255A>G (p.Arg85=) | |
| 6 | g.73644464T>G | CA364718842 | SLC17A5 | c.234A>C (p.Arg78Ser) c.183A>C (p.Arg61Ser) c.36A>C (p.Arg12Ser) c.61-2540A>C (n.61-2540A>C) c.255A>C (p.Arg85Ser) | |
| 6 | g.73644465C>A | CA364718848 | SLC17A5 | c.233G>T (p.Arg78Ile) c.182G>T (p.Arg61Ile) c.35G>T (p.Arg12Ile) c.61-2541G>T (n.61-2541G>T) c.254G>T (p.Arg85Ile) | |
| 6 | g.73644465C= | CA1638225521 | SLC17A5 | c.233G= (p.Arg78=) c.182G= (p.Arg61=) c.35G= (p.Arg12=) c.61-2541G= (n.61-2541G=) c.254G= (p.Arg85=) | |
| 6 | g.73644465C>G | CA3890587 | SLC17A5 | c.233G>C (p.Arg78Thr) c.182G>C (p.Arg61Thr) c.35G>C (p.Arg12Thr) c.61-2541G>C (n.61-2541G>C) c.254G>C (p.Arg85Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644465C>T | CA364718850 | SLC17A5 | c.233G>A (p.Arg78Lys) c.182G>A (p.Arg61Lys) c.35G>A (p.Arg12Lys) c.61-2541G>A (n.61-2541G>A) c.254G>A (p.Arg85Lys) | gnomAD v4 |
| 6 | g.73644465_73644466insATCA | CA2544609036 | SLC17A5 | c.232_233insTGAT (p.Arg78MetfsTer19) c.181_182insTGAT (p.Arg61MetfsTer19) c.34_35insTGAT (p.Arg12MetfsTer19) c.61-2542_61-2541insTGAT (n.61-2542_61-2541insTGAT) c.253_254insTGAT (p.Arg85MetfsTer19) | |
| 6 | g.73644466T>A | CA364718854 | SLC17A5 | c.232A>T (p.Arg78Ter) c.181A>T (p.Arg61Ter) c.34A>T (p.Arg12Ter) c.61-2542A>T (n.61-2542A>T) c.253A>T (p.Arg85Ter) | |
| 6 | g.73644466T>C | CA364718856 | SLC17A5 | c.232A>G (p.Arg78Gly) c.181A>G (p.Arg61Gly) c.34A>G (p.Arg12Gly) c.61-2542A>G (n.61-2542A>G) c.253A>G (p.Arg85Gly) | gnomAD v4 |
| 6 | g.73644466T>G | CA450912360 | SLC17A5 | c.232A>C (p.Arg78=) c.181A>C (p.Arg61=) c.34A>C (p.Arg12=) c.61-2542A>C (n.61-2542A>C) c.253A>C (p.Arg85=) | |
| 6 | g.73644467A>C | CA364718858 | SLC17A5 | c.231T>G (p.Asn77Lys) c.180T>G (p.Asn60Lys) c.33T>G (p.Asn11Lys) c.61-2543T>G (n.61-2543T>G) c.252T>G (p.Asn84Lys) | |
| 6 | g.73644467A>G | CA450912361 | SLC17A5 | c.231T>C (p.Asn77=) c.180T>C (p.Asn60=) c.33T>C (p.Asn11=) c.61-2543T>C (n.61-2543T>C) c.252T>C (p.Asn84=) | ClinVar gnomAD v4 |
| 6 | g.73644467A>T | CA364718860 | SLC17A5 | c.231T>A (p.Asn77Lys) c.180T>A (p.Asn60Lys) c.33T>A (p.Asn11Lys) c.61-2543T>A (n.61-2543T>A) c.252T>A (p.Asn84Lys) | |
| 6 | g.73644468T>A | CA364718864 | SLC17A5 | c.230A>T (p.Asn77Ile) c.179A>T (p.Asn60Ile) c.32A>T (p.Asn11Ile) c.61-2544A>T (n.61-2544A>T) c.251A>T (p.Asn84Ile) | |
| 6 | g.73644468T>C | CA364718866 | SLC17A5 | c.230A>G (p.Asn77Ser) c.179A>G (p.Asn60Ser) c.32A>G (p.Asn11Ser) c.61-2544A>G (n.61-2544A>G) c.251A>G (p.Asn84Ser) | dbSNP gnomAD v4 |
| 6 | g.73644468T>G | CA364718868 | SLC17A5 | c.230A>C (p.Asn77Thr) c.179A>C (p.Asn60Thr) c.32A>C (p.Asn11Thr) c.61-2544A>C (n.61-2544A>C) c.251A>C (p.Asn84Thr) | |
| 6 | g.73644468T= | CA1638225524 | SLC17A5 | c.230A= (p.Asn77=) c.179A= (p.Asn60=) c.32A= (p.Asn11=) c.61-2544A= (n.61-2544A=) c.251A= (p.Asn84=) | |
| 6 | g.73644469del | CA2679405063 | SLC17A5 | c.230del (p.Asn77IlefsTer14) c.179del (p.Asn60IlefsTer14) c.32del (p.Asn11IlefsTer14) c.61-2544del (n.61-2544del) c.251del (p.Asn84IlefsTer14) | gnomAD v4 |
| 6 | g.73644469T>A | CA364718871 | SLC17A5 | c.229A>T (p.Asn77Tyr) c.178A>T (p.Asn60Tyr) c.31A>T (p.Asn11Tyr) c.61-2545A>T (n.61-2545A>T) c.250A>T (p.Asn84Tyr) | |
| 6 | g.73644469T>C | CA364718873 | SLC17A5 | c.229A>G (p.Asn77Asp) c.178A>G (p.Asn60Asp) c.31A>G (p.Asn11Asp) c.61-2545A>G (n.61-2545A>G) c.250A>G (p.Asn84Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644469T>G | CA364718876 | SLC17A5 | c.229A>C (p.Asn77His) c.178A>C (p.Asn60His) c.31A>C (p.Asn11His) c.61-2545A>C (n.61-2545A>C) c.250A>C (p.Asn84His) | |
| 6 | g.73644469T= | CA1638225527 | SLC17A5 | c.229A= (p.Asn77=) c.178A= (p.Asn60=) c.31A= (p.Asn11=) c.61-2545A= (n.61-2545A=) c.250A= (p.Asn84=) | |
| 6 | g.73644470A>C | CA364718879 | SLC17A5 | c.228T>G (p.Asp76Glu) c.177T>G (p.Asp59Glu) c.30T>G (p.Asp10Glu) c.61-2546T>G (n.61-2546T>G) c.249T>G (p.Asp83Glu) | |
| 6 | g.73644470A>G | CA450912362 | SLC17A5 | c.228T>C (p.Asp76=) c.177T>C (p.Asp59=) c.30T>C (p.Asp10=) c.61-2546T>C (n.61-2546T>C) c.249T>C (p.Asp83=) | dbSNP gnomAD v4 |
| 6 | g.73644470A>T | CA364718882 | SLC17A5 | c.228T>A (p.Asp76Glu) c.177T>A (p.Asp59Glu) c.30T>A (p.Asp10Glu) c.61-2546T>A (n.61-2546T>A) c.249T>A (p.Asp83Glu) | |
| 6 | g.73644471T>A | CA364718890 | SLC17A5 | c.227A>T (p.Asp76Val) c.176A>T (p.Asp59Val) c.29A>T (p.Asp10Val) c.61-2547A>T (n.61-2547A>T) c.248A>T (p.Asp83Val) | |
| 6 | g.73644471T>C | CA3890588 | SLC17A5 | c.227A>G (p.Asp76Gly) c.176A>G (p.Asp59Gly) c.29A>G (p.Asp10Gly) c.61-2547A>G (n.61-2547A>G) c.248A>G (p.Asp83Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644471T>G | CA364718885 | SLC17A5 | c.227A>C (p.Asp76Ala) c.176A>C (p.Asp59Ala) c.29A>C (p.Asp10Ala) c.61-2547A>C (n.61-2547A>C) c.248A>C (p.Asp83Ala) | |
| 6 | g.73644471T= | CA1638225529 | SLC17A5 | c.227A= (p.Asp76=) c.176A= (p.Asp59=) c.29A= (p.Asp10=) c.61-2547A= (n.61-2547A=) c.248A= (p.Asp83=) | |
| 6 | g.73644472C>A | CA364718893 | SLC17A5 | c.226G>T (p.Asp76Tyr) c.175G>T (p.Asp59Tyr) c.28G>T (p.Asp10Tyr) c.61-2548G>T (n.61-2548G>T) c.247G>T (p.Asp83Tyr) | |
| 6 | g.73644472C= | CA1638225532 | SLC17A5 | c.226G= (p.Asp76=) c.175G= (p.Asp59=) c.28G= (p.Asp10=) c.61-2548G= (n.61-2548G=) c.247G= (p.Asp83=) | |
| 6 | g.73644472C>G | CA364718896 | SLC17A5 | c.226G>C (p.Asp76His) c.175G>C (p.Asp59His) c.28G>C (p.Asp10His) c.61-2548G>C (n.61-2548G>C) c.247G>C (p.Asp83His) | |
| 6 | g.73644472C>T | CA3890589 | SLC17A5 | c.226G>A (p.Asp76Asn) c.175G>A (p.Asp59Asn) c.28G>A (p.Asp10Asn) c.61-2548G>A (n.61-2548G>A) c.247G>A (p.Asp83Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644473T>A | CA364718899 | SLC17A5 | c.225A>T (p.Glu75Asp) c.174A>T (p.Glu58Asp) c.27A>T (p.Glu9Asp) c.61-2549A>T (n.61-2549A>T) c.246A>T (p.Glu82Asp) | |
| 6 | g.73644473T>C | CA450912363 | SLC17A5 | c.225A>G (p.Glu75=) c.174A>G (p.Glu58=) c.27A>G (p.Glu9=) c.61-2549A>G (n.61-2549A>G) c.246A>G (p.Glu82=) | |
| 6 | g.73644473T>G | CA364718901 | SLC17A5 | c.225A>C (p.Glu75Asp) c.174A>C (p.Glu58Asp) c.27A>C (p.Glu9Asp) c.61-2549A>C (n.61-2549A>C) c.246A>C (p.Glu82Asp) | |
| 6 | g.73644474T>A | CA364718904 | SLC17A5 | c.224A>T (p.Glu75Val) c.173A>T (p.Glu58Val) c.26A>T (p.Glu9Val) c.61-2550A>T (n.61-2550A>T) c.245A>T (p.Glu82Val) | |
| 6 | g.73644474T>C | CA364718908 | SLC17A5 | c.224A>G (p.Glu75Gly) c.173A>G (p.Glu58Gly) c.26A>G (p.Glu9Gly) c.61-2550A>G (n.61-2550A>G) c.245A>G (p.Glu82Gly) | |
| 6 | g.73644474T>G | CA364718910 | SLC17A5 | c.224A>C (p.Glu75Ala) c.173A>C (p.Glu58Ala) c.26A>C (p.Glu9Ala) c.61-2550A>C (n.61-2550A>C) c.245A>C (p.Glu82Ala) | |
| 6 | g.73644475C>A | CA364718913 | SLC17A5 | c.223G>T (p.Glu75Ter) c.172G>T (p.Glu58Ter) c.25G>T (p.Glu9Ter) c.61-2551G>T (n.61-2551G>T) c.244G>T (p.Glu82Ter) | |
| 6 | g.73644475C>G | CA364718915 | SLC17A5 | c.223G>C (p.Glu75Gln) c.172G>C (p.Glu58Gln) c.25G>C (p.Glu9Gln) c.61-2551G>C (n.61-2551G>C) c.244G>C (p.Glu82Gln) | ClinVar |
| 6 | g.73644475C>T | CA364718917 | SLC17A5 | c.223G>A (p.Glu75Lys) c.172G>A (p.Glu58Lys) c.25G>A (p.Glu9Lys) c.61-2551G>A (n.61-2551G>A) c.244G>A (p.Glu82Lys) | |
| 6 | g.73644476T>A | CA364718925 | SLC17A5 | c.222A>T (p.Leu74Phe) c.171A>T (p.Leu57Phe) c.24A>T (p.Leu8Phe) c.61-2552A>T (n.61-2552A>T) c.243A>T (p.Leu81Phe) | |
| 6 | g.73644476T>C | CA3890590 | SLC17A5 | c.222A>G (p.Leu74=) c.171A>G (p.Leu57=) c.24A>G (p.Leu8=) c.61-2552A>G (n.61-2552A>G) c.243A>G (p.Leu81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644476T>G | CA364718920 | SLC17A5 | c.222A>C (p.Leu74Phe) c.171A>C (p.Leu57Phe) c.24A>C (p.Leu8Phe) c.61-2552A>C (n.61-2552A>C) c.243A>C (p.Leu81Phe) | |
| 6 | g.73644476T= | CA1638225537 | SLC17A5 | c.222A= (p.Leu74=) c.171A= (p.Leu57=) c.24A= (p.Leu8=) c.61-2552A= (n.61-2552A=) c.243A= (p.Leu81=) | |
| 6 | g.73644477A= | CA1638225540 | SLC17A5 | c.221T= (p.Leu74=) c.170T= (p.Leu57=) c.23T= (p.Leu8=) c.61-2553T= (n.61-2553T=) c.242T= (p.Leu81=) | |
| 6 | g.73644477A>C | CA364718933 | SLC17A5 | c.221T>G (p.Leu74Ter) c.170T>G (p.Leu57Ter) c.23T>G (p.Leu8Ter) c.61-2553T>G (n.61-2553T>G) c.242T>G (p.Leu81Ter) | ClinVar |
| 6 | g.73644477A>G | CA364718928 | SLC17A5 | c.221T>C (p.Leu74Ser) c.170T>C (p.Leu57Ser) c.23T>C (p.Leu8Ser) c.61-2553T>C (n.61-2553T>C) c.242T>C (p.Leu81Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.73644477A>T | CA364718931 | SLC17A5 | c.221T>A (p.Leu74Ter) c.170T>A (p.Leu57Ter) c.23T>A (p.Leu8Ter) c.61-2553T>A (n.61-2553T>A) c.242T>A (p.Leu81Ter) | ClinVar dbSNP |
| 6 | g.73644478A>C | CA364718935 | SLC17A5 | c.220T>G (p.Leu74Val) c.169T>G (p.Leu57Val) c.22T>G (p.Leu8Val) c.61-2554T>G (n.61-2554T>G) c.241T>G (p.Leu81Val) | |
| 6 | g.73644478A>G | CA450912364 | SLC17A5 | c.220T>C (p.Leu74=) c.169T>C (p.Leu57=) c.22T>C (p.Leu8=) c.61-2554T>C (n.61-2554T>C) c.241T>C (p.Leu81=) | |
| 6 | g.73644478A>T | CA364718938 | SLC17A5 | c.220T>A (p.Leu74Ile) c.169T>A (p.Leu57Ile) c.22T>A (p.Leu8Ile) c.61-2554T>A (n.61-2554T>A) c.241T>A (p.Leu81Ile) | |
| 6 | g.73644479A>C | CA450912365 | SLC17A5 | c.219T>G (p.Thr73=) c.168T>G (p.Thr56=) c.21T>G (p.Thr7=) c.61-2555T>G (n.61-2555T>G) c.240T>G (p.Thr80=) | gnomAD v4 |
| 6 | g.73644479A>G | CA450912366 | SLC17A5 | c.219T>C (p.Thr73=) c.168T>C (p.Thr56=) c.21T>C (p.Thr7=) c.61-2555T>C (n.61-2555T>C) c.240T>C (p.Thr80=) | |
| 6 | g.73644479A>T | CA450912367 | SLC17A5 | c.219T>A (p.Thr73=) c.168T>A (p.Thr56=) c.21T>A (p.Thr7=) c.61-2555T>A (n.61-2555T>A) c.240T>A (p.Thr80=) | |
| 6 | g.73644480G>A | CA364718942 | SLC17A5 | c.218C>T (p.Thr73Ile) c.167C>T (p.Thr56Ile) c.20C>T (p.Thr7Ile) c.61-2556C>T (n.61-2556C>T) c.239C>T (p.Thr80Ile) | |
| 6 | g.73644480G>C | CA364718944 | SLC17A5 | c.218C>G (p.Thr73Ser) c.167C>G (p.Thr56Ser) c.20C>G (p.Thr7Ser) c.61-2556C>G (n.61-2556C>G) c.239C>G (p.Thr80Ser) | |
| 6 | g.73644480G= | CA1638225546 | SLC17A5 | c.218C= (p.Thr73=) c.167C= (p.Thr56=) c.20C= (p.Thr7=) c.61-2556C= (n.61-2556C=) c.239C= (p.Thr80=) | |
| 6 | g.73644480G>T | CA364718946 | SLC17A5 | c.218C>A (p.Thr73Asn) c.167C>A (p.Thr56Asn) c.20C>A (p.Thr7Asn) c.61-2556C>A (n.61-2556C>A) c.239C>A (p.Thr80Asn) | dbSNP |
| 6 | g.73644481T>A | CA364718948 | SLC17A5 | c.217A>T (p.Thr73Ser) c.166A>T (p.Thr56Ser) c.19A>T (p.Thr7Ser) c.61-2557A>T (n.61-2557A>T) c.238A>T (p.Thr80Ser) | |
| 6 | g.73644481T>C | CA364718949 | SLC17A5 | c.217A>G (p.Thr73Ala) c.166A>G (p.Thr56Ala) c.19A>G (p.Thr7Ala) c.61-2557A>G (n.61-2557A>G) c.238A>G (p.Thr80Ala) | gnomAD v4 |
| 6 | g.73644481T>G | CA364718950 | SLC17A5 | c.217A>C (p.Thr73Pro) c.166A>C (p.Thr56Pro) c.19A>C (p.Thr7Pro) c.61-2557A>C (n.61-2557A>C) c.238A>C (p.Thr80Pro) | |
| 6 | g.73644481_73644483delinsTTG | CA1638225547 | SLC17A5 | c.215_217delinsCAA (p.Thr72=) c.164_166delinsCAA (p.Thr55=) c.17_19delinsCAA (p.Thr6=) c.61-2559_61-2557delinsCAA (n.61-2559_61-2557delinsCAA) c.236_238delinsCAA (p.Thr79=) | |
| 6 | g.73644482T>A | CA450912369 | SLC17A5 | c.216A>T (p.Thr72=) c.165A>T (p.Thr55=) c.18A>T (p.Thr6=) c.61-2558A>T (n.61-2558A>T) c.237A>T (p.Thr79=) | |
| 6 | g.73644482T>C | CA450912370 | SLC17A5 | c.216A>G (p.Thr72=) c.165A>G (p.Thr55=) c.18A>G (p.Thr6=) c.61-2558A>G (n.61-2558A>G) c.237A>G (p.Thr79=) | |
| 6 | g.73644482T>G | CA450912368 | SLC17A5 | c.216A>C (p.Thr72=) c.165A>C (p.Thr55=) c.18A>C (p.Thr6=) c.61-2558A>C (n.61-2558A>C) c.237A>C (p.Thr79=) | |
| 6 | g.73644482_73644483delinsTG | CA1638225553 | SLC17A5 | c.215_216delinsCA (p.Thr72=) c.164_165delinsCA (p.Thr55=) c.17_18delinsCA (p.Thr6=) c.61-2559_61-2558delinsCA (n.61-2559_61-2558delinsCA) c.236_237delinsCA (p.Thr79=) | |
| 6 | g.73644483_73644484del | CA16041088 | SLC17A5 | c.215_216del (p.Thr72AsnfsTer5) c.164_165del (p.Thr55AsnfsTer5) c.17_18del (p.Thr6AsnfsTer5) c.61-2559_61-2558del (n.61-2559_61-2558del) c.236_237del (p.Thr79AsnfsTer5) | ClinVar dbSNP |
| 6 | g.73644483del | CA16041089 | SLC17A5 | c.215del (p.Thr72LysfsTer3) c.164del (p.Thr55LysfsTer3) c.17del (p.Thr6LysfsTer3) c.61-2559del (n.61-2559del) c.236del (p.Thr79LysfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644483G>A | CA364718960 | SLC17A5 | c.215C>T (p.Thr72Ile) c.164C>T (p.Thr55Ile) c.17C>T (p.Thr6Ile) c.61-2559C>T (n.61-2559C>T) c.236C>T (p.Thr79Ile) | |
| 6 | g.73644483G>C | CA364718962 | SLC17A5 | c.215C>G (p.Thr72Arg) c.164C>G (p.Thr55Arg) c.17C>G (p.Thr6Arg) c.61-2559C>G (n.61-2559C>G) c.236C>G (p.Thr79Arg) | |
| 6 | g.73644483G= | CA1638225554 | SLC17A5 | c.215C= (p.Thr72=) c.164C= (p.Thr55=) c.17C= (p.Thr6=) c.61-2559C= (n.61-2559C=) c.236C= (p.Thr79=) | |
| 6 | g.73644483G>T | CA3890591 | SLC17A5 | c.215C>A (p.Thr72Lys) c.164C>A (p.Thr55Lys) c.17C>A (p.Thr6Lys) c.61-2559C>A (n.61-2559C>A) c.236C>A (p.Thr79Lys) | dbSNP ExAC gnomAD v2 |
| 6 | g.73644484T>A | CA364718965 | SLC17A5 | c.214A>T (p.Thr72Ser) c.163A>T (p.Thr55Ser) c.16A>T (p.Thr6Ser) c.61-2560A>T (n.61-2560A>T) c.235A>T (p.Thr79Ser) | |
| 6 | g.73644484T>C | CA364718967 | SLC17A5 | c.214A>G (p.Thr72Ala) c.163A>G (p.Thr55Ala) c.16A>G (p.Thr6Ala) c.61-2560A>G (n.61-2560A>G) c.235A>G (p.Thr79Ala) | |
| 6 | g.73644484T>G | CA364718970 | SLC17A5 | c.214A>C (p.Thr72Pro) c.163A>C (p.Thr55Pro) c.16A>C (p.Thr6Pro) c.61-2560A>C (n.61-2560A>C) c.235A>C (p.Thr79Pro) | |
| 6 | g.73644485A= | CA1638225556 | SLC17A5 | c.213T= (p.Asn71=) c.162T= (p.Asn54=) c.15T= (p.Asn5=) c.61-2561T= (n.61-2561T=) c.234T= (p.Asn78=) | |
| 6 | g.73644485A>C | CA364718973 | SLC17A5 | c.213T>G (p.Asn71Lys) c.162T>G (p.Asn54Lys) c.15T>G (p.Asn5Lys) c.61-2561T>G (n.61-2561T>G) c.234T>G (p.Asn78Lys) | |
| 6 | g.73644485A>G | CA450912371 | SLC17A5 | c.213T>C (p.Asn71=) c.162T>C (p.Asn54=) c.15T>C (p.Asn5=) c.61-2561T>C (n.61-2561T>C) c.234T>C (p.Asn78=) | dbSNP gnomAD v4 |
| 6 | g.73644485A>T | CA364718975 | SLC17A5 | c.213T>A (p.Asn71Lys) c.162T>A (p.Asn54Lys) c.15T>A (p.Asn5Lys) c.61-2561T>A (n.61-2561T>A) c.234T>A (p.Asn78Lys) | |
| 6 | g.73644486T>A | CA364718984 | SLC17A5 | c.212A>T (p.Asn71Ile) c.161A>T (p.Asn54Ile) c.14A>T (p.Asn5Ile) c.61-2562A>T (n.61-2562A>T) c.233A>T (p.Asn78Ile) | |
| 6 | g.73644486T>C | CA364718978 | SLC17A5 | c.212A>G (p.Asn71Ser) c.161A>G (p.Asn54Ser) c.14A>G (p.Asn5Ser) c.61-2562A>G (n.61-2562A>G) c.233A>G (p.Asn78Ser) | |
| 6 | g.73644486T>G | CA364718981 | SLC17A5 | c.212A>C (p.Asn71Thr) c.161A>C (p.Asn54Thr) c.14A>C (p.Asn5Thr) c.61-2562A>C (n.61-2562A>C) c.233A>C (p.Asn78Thr) | |
| 6 | g.73644488dup | CA2548797610 | SLC17A5 | c.212dup (p.Asn71LysfsTer7) c.161dup (p.Asn54LysfsTer7) c.14dup (p.Asn5LysfsTer7) c.61-2562dup (n.61-2562dup) c.233dup (p.Asn78LysfsTer7) | |
| 6 | g.73644487T>A | CA364718988 | SLC17A5 | c.211A>T (p.Asn71Tyr) c.160A>T (p.Asn54Tyr) c.13A>T (p.Asn5Tyr) c.61-2563A>T (n.61-2563A>T) c.232A>T (p.Asn78Tyr) | |
| 6 | g.73644487T>C | CA364718990 | SLC17A5 | c.211A>G (p.Asn71Asp) c.160A>G (p.Asn54Asp) c.13A>G (p.Asn5Asp) c.61-2563A>G (n.61-2563A>G) c.232A>G (p.Asn78Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644487T>G | CA364718991 | SLC17A5 | c.211A>C (p.Asn71His) c.160A>C (p.Asn54His) c.13A>C (p.Asn5His) c.61-2563A>C (n.61-2563A>C) c.232A>C (p.Asn78His) | |
| 6 | g.73644487T= | CA1638225559 | SLC17A5 | c.211A= (p.Asn71=) c.160A= (p.Asn54=) c.13A= (p.Asn5=) c.61-2563A= (n.61-2563A=) c.232A= (p.Asn78=) | |
| 6 | g.73644488_73644489insTTATCTATTGCAGTAACTGTACCATCTACATTTACTTGTCCTTTATTTTTAGCATAAGCAATTATTGCTCCATAGTTAACTGCCTCTGTTGTTCCCTTAGCATTAACTATACCTT | CA2507248564 | SLC17A5 | c.211_212insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn71ArgfsTer4) c.160_161insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn54ArgfsTer4) c.13_14insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn5ArgfsTer4) c.61-2563_61-2562insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (n.61-2563_61-2562insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA) c.232_233insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn78ArgfsTer4) | |
| 6 | g.73644488T>A | CA450912372 | SLC17A5 | c.210A>T (p.Ser70=) c.159A>T (p.Ser53=) c.12A>T (p.Ser4=) c.61-2564A>T (n.61-2564A>T) c.231A>T (p.Ser77=) | |
| 6 | g.73644488T>C | CA450912373 | SLC17A5 | c.210A>G (p.Ser70=) c.159A>G (p.Ser53=) c.12A>G (p.Ser4=) c.61-2564A>G (n.61-2564A>G) c.231A>G (p.Ser77=) | |
| 6 | g.73644488T>G | CA450912374 | SLC17A5 | c.210A>C (p.Ser70=) c.159A>C (p.Ser53=) c.12A>C (p.Ser4=) c.61-2564A>C (n.61-2564A>C) c.231A>C (p.Ser77=) | |
| 6 | g.73644489G>A | CA364718994 | SLC17A5 | c.209C>T (p.Ser70Leu) c.158C>T (p.Ser53Leu) c.11C>T (p.Ser4Leu) c.61-2565C>T (n.61-2565C>T) c.230C>T (p.Ser77Leu) | |
| 6 | g.73644489G>C | CA364718997 | SLC17A5 | c.209C>G (p.Ser70Ter) c.158C>G (p.Ser53Ter) c.11C>G (p.Ser4Ter) c.61-2565C>G (n.61-2565C>G) c.230C>G (p.Ser77Ter) | |
| 6 | g.73644489G>T | CA364719000 | SLC17A5 | c.209C>A (p.Ser70Ter) c.158C>A (p.Ser53Ter) c.11C>A (p.Ser4Ter) c.61-2565C>A (n.61-2565C>A) c.230C>A (p.Ser77Ter) | gnomAD v4 |
| 6 | g.73644490A>C | CA364719005 | SLC17A5 | c.208T>G (p.Ser70Ala) c.157T>G (p.Ser53Ala) c.10T>G (p.Ser4Ala) c.61-2566T>G (n.61-2566T>G) c.229T>G (p.Ser77Ala) | COSMIC |
| 6 | g.73644490A>G | CA364719007 | SLC17A5 | c.208T>C (p.Ser70Pro) c.157T>C (p.Ser53Pro) c.10T>C (p.Ser4Pro) c.61-2566T>C (n.61-2566T>C) c.229T>C (p.Ser77Pro) | |
| 6 | g.73644490A>T | CA364719002 | SLC17A5 | c.208T>A (p.Ser70Thr) c.157T>A (p.Ser53Thr) c.10T>A (p.Ser4Thr) c.61-2566T>A (n.61-2566T>A) c.229T>A (p.Ser77Thr) | |
| 6 | g.73644490_73644491insTCTACTGCAGTAACTGTACCGTCTACAGTAACTTGCCCTTTATTTTTAGCATAAGCAATTATTGCTCCATAGTTGATAGCTTCAGTTGTTTTCTTAGCATTAACTATACCTTGATT | CA2545061158 | SLC17A5 | c.207_208insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser70AsnfsTer44) c.156_157insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser53AsnfsTer44) c.9_10insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser4AsnfsTer44) c.61-2567_61-2566insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (n.61-2567_61-2566insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA) c.228_229insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser77AsnfsTer44) | |
| 6 | g.73644491A= | CA1638225560 | SLC17A5 | c.207T= (p.Asp69=) c.156T= (p.Asp52=) c.9T= (p.Asp3=) c.61-2567T= (n.61-2567T=) c.228T= (p.Asp76=) | |
| 6 | g.73644491A>C | CA364719010 | SLC17A5 | c.207T>G (p.Asp69Glu) c.156T>G (p.Asp52Glu) c.9T>G (p.Asp3Glu) c.61-2567T>G (n.61-2567T>G) c.228T>G (p.Asp76Glu) | |
| 6 | g.73644491A>G | CA140977961 | SLC17A5 | c.207T>C (p.Asp69=) c.156T>C (p.Asp52=) c.9T>C (p.Asp3=) c.61-2567T>C (n.61-2567T>C) c.228T>C (p.Asp76=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644491A>T | CA364719013 | SLC17A5 | c.207T>A (p.Asp69Glu) c.156T>A (p.Asp52Glu) c.9T>A (p.Asp3Glu) c.61-2567T>A (n.61-2567T>A) c.228T>A (p.Asp76Glu) | |
| 6 | g.73644492T>A | CA364719015 | SLC17A5 | c.206A>T (p.Asp69Val) c.155A>T (p.Asp52Val) c.8A>T (p.Asp3Val) c.61-2568A>T (n.61-2568A>T) c.227A>T (p.Asp76Val) | |
| 6 | g.73644492T>C | CA364719018 | SLC17A5 | c.206A>G (p.Asp69Gly) c.155A>G (p.Asp52Gly) c.8A>G (p.Asp3Gly) c.61-2568A>G (n.61-2568A>G) c.227A>G (p.Asp76Gly) | |
| 6 | g.73644492T>G | CA364719022 | SLC17A5 | c.206A>C (p.Asp69Ala) c.155A>C (p.Asp52Ala) c.8A>C (p.Asp3Ala) c.61-2568A>C (n.61-2568A>C) c.227A>C (p.Asp76Ala) | |
| 6 | g.73644493C>A | CA364719026 | SLC17A5 | c.205G>T (p.Asp69Tyr) c.154G>T (p.Asp52Tyr) c.7G>T (p.Asp3Tyr) c.61-2569G>T (n.61-2569G>T) c.226G>T (p.Asp76Tyr) | |
| 6 | g.73644493C>G | CA364719038 | SLC17A5 | c.205G>C (p.Asp69His) c.154G>C (p.Asp52His) c.7G>C (p.Asp3His) c.61-2569G>C (n.61-2569G>C) c.226G>C (p.Asp76His) | |
| 6 | g.73644493C>T | CA364719041 | SLC17A5 | c.205G>A (p.Asp69Asn) c.154G>A (p.Asp52Asn) c.7G>A (p.Asp3Asn) c.61-2569G>A (n.61-2569G>A) c.226G>A (p.Asp76Asn) | |
| 6 | g.73644493_73644494delinsCT | CA1638225563 | SLC17A5 | c.204_205delinsAG (p.Val68=) c.153_154delinsAG (p.Val51=) c.6_7delinsAG (p.Val2=) c.61-2570_61-2569delinsAG (n.61-2570_61-2569delinsAG) c.225_226delinsAG (p.Val75=) | |
| 6 | g.73644494del | CA16041090 | SLC17A5 | c.204del (p.Asp69IlefsTer6) c.153del (p.Asp52IlefsTer6) c.6del (p.Asp3IlefsTer6) c.61-2570del (n.61-2570del) c.225del (p.Asp76IlefsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644494T>A | CA450912378 | SLC17A5 | c.204A>T (p.Val68=) c.153A>T (p.Val51=) c.6A>T (p.Val2=) c.61-2570A>T (n.61-2570A>T) c.225A>T (p.Val75=) | |
| 6 | g.73644494T>C | CA450912379 | SLC17A5 | c.204A>G (p.Val68=) c.153A>G (p.Val51=) c.6A>G (p.Val2=) c.61-2570A>G (n.61-2570A>G) c.225A>G (p.Val75=) | |
| 6 | g.73644494T>G | CA450912380 | SLC17A5 | c.204A>C (p.Val68=) c.153A>C (p.Val51=) c.6A>C (p.Val2=) c.61-2570A>C (n.61-2570A>C) c.225A>C (p.Val75=) | |
| 6 | g.73644495A>C | CA364719047 | SLC17A5 | c.203T>G (p.Val68Gly) c.152T>G (p.Val51Gly) c.5T>G (p.Val2Gly) c.61-2571T>G (n.61-2571T>G) c.224T>G (p.Val75Gly) | |
| 6 | g.73644495A>G | CA364719049 | SLC17A5 | c.203T>C (p.Val68Ala) c.152T>C (p.Val51Ala) c.5T>C (p.Val2Ala) c.61-2571T>C (n.61-2571T>C) c.224T>C (p.Val75Ala) | |
| 6 | g.73644495A>T | CA364719050 | SLC17A5 | c.203T>A (p.Val68Glu) c.152T>A (p.Val51Glu) c.5T>A (p.Val2Glu) c.61-2571T>A (n.61-2571T>A) c.224T>A (p.Val75Glu) | |
| 6 | g.73644495_73644496insTTGCAGTAACTGTACCATCTACATTTACTTGTCCTTTATTTTTAGCATAAGCAATTATTGCTCCATAGTTAACTGCCTCTGTTGTTCCCTTAGCATTAACTATACCTTGGTTATCTC | CA2515536236 | SLC17A5 | c.202_203insGAGATAACCAAGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAA (p.Val68delinsGlyAspAsnGlnGlyIleValAsnAlaLysGlyThrThrGluAlaValAsnTyrGlyAlaIleIleAlaTyrAlaLysAsnLysGlyGlnValAsnValAspGlyThrValThrAlaIle) c.151_152insGAGATAACCAAGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAA (p.Val51delinsGlyAspAsnGlnGlyIleValAsnAlaLysGlyThrThrGluAlaValAsnTyrGlyAlaIleIleAlaTyrAlaLysAsnLysGlyGlnValAsnValAspGlyThrValThrAlaIle) c.4_5insGAGATAACCAAGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAA (p.Val2delinsGlyAspAsnGlnGlyIleValAsnAlaLysGlyThrThrGluAlaValAsnTyrGlyAlaIleIleAlaTyrAlaLysAsnLysGlyGlnValAsnValAspGlyThrValThrAlaIle) c.61-2572_61-2571insGAGATAACCAAGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAA (n.61-2572_61-2571insGAGATAACCAAGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAA) c.223_224insGAGATAACCAAGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAA (p.Val75delinsGlyAspAsnGlnGlyIleValAsnAlaLysGlyThrThrGluAlaValAsnTyrGlyAlaIleIleAlaTyrAlaLysAsnLysGlyGlnValAsnValAspGlyThrValThrAlaIle) | |
| 6 | g.73644496C>A | CA364719053 | SLC17A5 | c.202G>T (p.Val68Leu) c.151G>T (p.Val51Leu) c.4G>T (p.Val2Leu) c.61-2572G>T (n.61-2572G>T) c.223G>T (p.Val75Leu) | |
| 6 | g.73644496C= | CA1638225567 | SLC17A5 | c.202G= (p.Val68=) c.151G= (p.Val51=) c.4G= (p.Val2=) c.61-2572G= (n.61-2572G=) c.223G= (p.Val75=) | |
| 6 | g.73644496C>G | CA364719056 | SLC17A5 | c.202G>C (p.Val68Leu) c.151G>C (p.Val51Leu) c.4G>C (p.Val2Leu) c.61-2572G>C (n.61-2572G>C) c.223G>C (p.Val75Leu) | gnomAD v4 |
| 6 | g.73644496C>T | CA364719058 | SLC17A5 | c.202G>A (p.Val68Ile) c.151G>A (p.Val51Ile) c.4G>A (p.Val2Ile) c.61-2572G>A (n.61-2572G>A) c.223G>A (p.Val75Ile) | dbSNP |
| 6 | g.73644497C>A | CA364719062 | SLC17A5 | c.201G>T (p.Met67Ile) c.150G>T (p.Met50Ile) c.3G>T (p.Met1Ile) c.61-2573G>T (n.61-2573G>T) c.222G>T (p.Met74Ile) | |
| 6 | g.73644497C>G | CA364719064 | SLC17A5 | c.201G>C (p.Met67Ile) c.150G>C (p.Met50Ile) c.3G>C (p.Met1Ile) c.61-2573G>C (n.61-2573G>C) c.222G>C (p.Met74Ile) | |
| 6 | g.73644497C>T | CA364719063 | SLC17A5 | c.201G>A (p.Met67Ile) c.150G>A (p.Met50Ile) c.3G>A (p.Met1Ile) c.61-2573G>A (n.61-2573G>A) c.222G>A (p.Met74Ile) | |
| 6 | g.73644498A>C | CA364719065 | SLC17A5 | c.200T>G (p.Met67Arg) c.149T>G (p.Met50Arg) c.2T>G (p.Met1Arg) c.61-2574T>G (n.61-2574T>G) c.221T>G (p.Met74Arg) | |
| 6 | g.73644498A>G | CA364719066 | SLC17A5 | c.200T>C (p.Met67Thr) c.149T>C (p.Met50Thr) c.2T>C (p.Met1Thr) c.61-2574T>C (n.61-2574T>C) c.221T>C (p.Met74Thr) | |
| 6 | g.73644498A>T | CA364719067 | SLC17A5 | c.200T>A (p.Met67Lys) c.149T>A (p.Met50Lys) c.2T>A (p.Met1Lys) c.61-2574T>A (n.61-2574T>A) c.221T>A (p.Met74Lys) | |
| 6 | g.73644499T>A | CA364719068 | SLC17A5 | c.199A>T (p.Met67Leu) c.148A>T (p.Met50Leu) c.1A>T (p.Met1Leu) c.61-2575A>T (n.61-2575A>T) c.220A>T (p.Met74Leu) | |
| 6 | g.73644499T>C | CA364719069 | SLC17A5 | c.199A>G (p.Met67Val) c.148A>G (p.Met50Val) c.1A>G (p.Met1Val) c.61-2575A>G (n.61-2575A>G) c.220A>G (p.Met74Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644499T>G | CA364719071 | SLC17A5 | c.199A>C (p.Met67Leu) c.148A>C (p.Met50Leu) c.1A>C (p.Met1Leu) c.61-2575A>C (n.61-2575A>C) c.220A>C (p.Met74Leu) | |
| 6 | g.73644499T= | CA1638225568 | SLC17A5 | c.199A= (p.Met67=) c.148A= (p.Met50=) c.1A= (p.Met1=) c.61-2575A= (n.61-2575A=) c.220A= (p.Met74=) | |
| 6 | g.73644500A>C | CA364719072 | SLC17A5 | c.198T>G (p.Asp66Glu) c.147T>G (p.Asp49Glu) c.-1T>G (n.-1T>G) c.61-2576T>G (n.61-2576T>G) c.219T>G (p.Asp73Glu) | |
| 6 | g.73644500A>G | CA450912381 | SLC17A5 | c.198T>C (p.Asp66=) c.147T>C (p.Asp49=) c.-1T>C (n.-1T>C) c.61-2576T>C (n.61-2576T>C) c.219T>C (p.Asp73=) | ClinVar dbSNP |
| 6 | g.73644500A>T | CA364719073 | SLC17A5 | c.198T>A (p.Asp66Glu) c.147T>A (p.Asp49Glu) c.-1T>A (n.-1T>A) c.61-2576T>A (n.61-2576T>A) c.219T>A (p.Asp73Glu) | |
| 6 | g.73644501T>A | CA364719075 | SLC17A5 | c.197A>T (p.Asp66Val) c.146A>T (p.Asp49Val) c.-2A>T (n.-2A>T) c.61-2577A>T (n.61-2577A>T) c.218A>T (p.Asp73Val) | |
| 6 | g.73644501T>C | CA3890592 | SLC17A5 | c.197A>G (p.Asp66Gly) c.146A>G (p.Asp49Gly) c.-2A>G (n.-2A>G) c.61-2577A>G (n.61-2577A>G) c.218A>G (p.Asp73Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644501T>G | CA364719077 | SLC17A5 | c.197A>C (p.Asp66Ala) c.146A>C (p.Asp49Ala) c.-2A>C (n.-2A>C) c.61-2577A>C (n.61-2577A>C) c.218A>C (p.Asp73Ala) | |
| 6 | g.73644501T= | CA1638225571 | SLC17A5 | c.197A= (p.Asp66=) c.146A= (p.Asp49=) c.-2A= (n.-2A=) c.61-2577A= (n.61-2577A=) c.218A= (p.Asp73=) | |
| 6 | g.73644502C>A | CA364719080 | SLC17A5 | c.196G>T (p.Asp66Tyr) c.145G>T (p.Asp49Tyr) c.-3G>T (n.-3G>T) c.61-2578G>T (n.61-2578G>T) c.217G>T (p.Asp73Tyr) | |
| 6 | g.73644502C>G | CA364719085 | SLC17A5 | c.196G>C (p.Asp66His) c.145G>C (p.Asp49His) c.-3G>C (n.-3G>C) c.61-2578G>C (n.61-2578G>C) c.217G>C (p.Asp73His) | |
| 6 | g.73644502C>T | CA364719083 | SLC17A5 | c.196G>A (p.Asp66Asn) c.145G>A (p.Asp49Asn) c.-3G>A (n.-3G>A) c.61-2578G>A (n.61-2578G>A) c.217G>A (p.Asp73Asn) | |
| 6 | g.73644503C>A | CA450912382 | SLC17A5 | c.195G>T (p.Val65=) c.144G>T (p.Val48=) c.-4G>T (n.-4G>T) c.61-2579G>T (n.61-2579G>T) c.216G>T (p.Val72=) | |
| 6 | g.73644503C>G | CA450912384 | SLC17A5 | c.195G>C (p.Val65=) c.144G>C (p.Val48=) c.-4G>C (n.-4G>C) c.61-2579G>C (n.61-2579G>C) c.216G>C (p.Val72=) | |
| 6 | g.73644503C>T | CA450912383 | SLC17A5 | c.195G>A (p.Val65=) c.144G>A (p.Val48=) c.-4G>A (n.-4G>A) c.61-2579G>A (n.61-2579G>A) c.216G>A (p.Val72=) | |
| 6 | g.73644504A>C | CA364719088 | SLC17A5 | c.194T>G (p.Val65Gly) c.143T>G (p.Val48Gly) c.-5T>G (n.-5T>G) c.61-2580T>G (n.61-2580T>G) c.215T>G (p.Val72Gly) | |
| 6 | g.73644504A>G | CA364719089 | SLC17A5 | c.194T>C (p.Val65Ala) c.143T>C (p.Val48Ala) c.-5T>C (n.-5T>C) c.61-2580T>C (n.61-2580T>C) c.215T>C (p.Val72Ala) | |
| 6 | g.73644504A>T | CA364719092 | SLC17A5 | c.194T>A (p.Val65Glu) c.143T>A (p.Val48Glu) c.-5T>A (n.-5T>A) c.61-2580T>A (n.61-2580T>A) c.215T>A (p.Val72Glu) | |
| 6 | g.73644505C>A | CA364719095 | SLC17A5 | c.193G>T (p.Val65Leu) c.142G>T (p.Val48Leu) c.-6G>T (n.-6G>T) c.61-2581G>T (n.61-2581G>T) c.214G>T (p.Val72Leu) | |
| 6 | g.73644505C>G | CA364719096 | SLC17A5 | c.193G>C (p.Val65Leu) c.142G>C (p.Val48Leu) c.-6G>C (n.-6G>C) c.61-2581G>C (n.61-2581G>C) c.214G>C (p.Val72Leu) | |
| 6 | g.73644505C>T | CA364719099 | SLC17A5 | c.193G>A (p.Val65Met) c.142G>A (p.Val48Met) c.-6G>A (n.-6G>A) c.61-2581G>A (n.61-2581G>A) c.214G>A (p.Val72Met) | |
| 6 | g.73644506T>A | CA364719102 | SLC17A5 | c.192A>T (p.Leu64Phe) c.141A>T (p.Leu47Phe) c.-7A>T (n.-7A>T) c.61-2582A>T (n.61-2582A>T) c.213A>T (p.Leu71Phe) | |
| 6 | g.73644506T>C | CA450912385 | SLC17A5 | c.192A>G (p.Leu64=) c.141A>G (p.Leu47=) c.-7A>G (n.-7A>G) c.61-2582A>G (n.61-2582A>G) c.213A>G (p.Leu71=) | ClinVar gnomAD v4 |
| 6 | g.73644506T>G | CA364719103 | SLC17A5 | c.192A>C (p.Leu64Phe) c.141A>C (p.Leu47Phe) c.-7A>C (n.-7A>C) c.61-2582A>C (n.61-2582A>C) c.213A>C (p.Leu71Phe) | gnomAD v4 |
| 6 | g.73644507A>C | CA364719106 | SLC17A5 | c.191T>G (p.Leu64Ter) c.140T>G (p.Leu47Ter) c.-8T>G (n.-8T>G) c.61-2583T>G (n.61-2583T>G) c.212T>G (p.Leu71Ter) | |
| 6 | g.73644507A>G | CA364719108 | SLC17A5 | c.191T>C (p.Leu64Ser) c.140T>C (p.Leu47Ser) c.-8T>C (n.-8T>C) c.61-2583T>C (n.61-2583T>C) c.212T>C (p.Leu71Ser) | |
| 6 | g.73644507A>T | CA364719109 | SLC17A5 | c.191T>A (p.Leu64Ter) c.140T>A (p.Leu47Ter) c.-8T>A (n.-8T>A) c.61-2583T>A (n.61-2583T>A) c.212T>A (p.Leu71Ter) | |
| 6 | g.73644508A= | CA1638225573 | SLC17A5 | c.190T= (p.Leu64=) c.139T= (p.Leu47=) c.-9T= (n.-9T=) c.61-2584T= (n.61-2584T=) c.211T= (p.Leu71=) | |
| 6 | g.73644508A>C | CA3890593 | SLC17A5 | c.190T>G (p.Leu64Val) c.139T>G (p.Leu47Val) c.-9T>G (n.-9T>G) c.61-2584T>G (n.61-2584T>G) c.211T>G (p.Leu71Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644508A>G | CA450912386 | SLC17A5 | c.190T>C (p.Leu64=) c.139T>C (p.Leu47=) c.-9T>C (n.-9T>C) c.61-2584T>C (n.61-2584T>C) c.211T>C (p.Leu71=) | |
| 6 | g.73644508A>T | CA364719114 | SLC17A5 | c.190T>A (p.Leu64Ile) c.139T>A (p.Leu47Ile) c.-9T>A (n.-9T>A) c.61-2584T>A (n.61-2584T>A) c.211T>A (p.Leu71Ile) | |
| 6 | g.73644509C>A | CA450912387 | SLC17A5 | c.189G>T (p.Ala63=) c.138G>T (p.Ala46=) c.-10G>T (n.-10G>T) c.61-2585G>T (n.61-2585G>T) c.210G>T (p.Ala70=) | gnomAD v4 |
| 6 | g.73644509C= | CA1638225575 | SLC17A5 | c.189G= (p.Ala63=) c.138G= (p.Ala46=) c.-10G= (n.-10G=) c.61-2585G= (n.61-2585G=) c.210G= (p.Ala70=) | |
| 6 | g.73644509C>G | CA450912388 | SLC17A5 | c.189G>C (p.Ala63=) c.138G>C (p.Ala46=) c.-10G>C (n.-10G>C) c.61-2585G>C (n.61-2585G>C) c.210G>C (p.Ala70=) | |
| 6 | g.73644509C>T | CA140978010 | SLC17A5 | c.189G>A (p.Ala63=) c.138G>A (p.Ala46=) c.-10G>A (n.-10G>A) c.61-2585G>A (n.61-2585G>A) c.210G>A (p.Ala70=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644510G>A | CA364719117 | SLC17A5 | c.188C>T (p.Ala63Val) c.137C>T (p.Ala46Val) c.-11C>T (n.-11C>T) c.61-2586C>T (n.61-2586C>T) c.209C>T (p.Ala70Val) | gnomAD v4 COSMIC |
| 6 | g.73644510G>C | CA364719125 | SLC17A5 | c.188C>G (p.Ala63Gly) c.137C>G (p.Ala46Gly) c.-11C>G (n.-11C>G) c.61-2586C>G (n.61-2586C>G) c.209C>G (p.Ala70Gly) | |
| 6 | g.73644510G>T | CA364719119 | SLC17A5 | c.188C>A (p.Ala63Glu) c.137C>A (p.Ala46Glu) c.-11C>A (n.-11C>A) c.61-2586C>A (n.61-2586C>A) c.209C>A (p.Ala70Glu) | |
| 6 | g.73644511C>A | CA364719128 | SLC17A5 | c.187G>T (p.Ala63Ser) c.136G>T (p.Ala46Ser) c.-12G>T (n.-12G>T) c.61-2587G>T (n.61-2587G>T) c.208G>T (p.Ala70Ser) | |
| 6 | g.73644511C= | CA1638225579 | SLC17A5 | c.187G= (p.Ala63=) c.136G= (p.Ala46=) c.-12G= (n.-12G=) c.61-2587G= (n.61-2587G=) c.208G= (p.Ala70=) | |
| 6 | g.73644511C>G | CA364719131 | SLC17A5 | c.187G>C (p.Ala63Pro) c.136G>C (p.Ala46Pro) c.-12G>C (n.-12G>C) c.61-2587G>C (n.61-2587G>C) c.208G>C (p.Ala70Pro) | |
| 6 | g.73644511C>T | CA364719133 | SLC17A5 | c.187G>A (p.Ala63Thr) c.136G>A (p.Ala46Thr) c.-12G>A (n.-12G>A) c.61-2587G>A (n.61-2587G>A) c.208G>A (p.Ala70Thr) | dbSNP COSMIC |
| 6 | g.73644512A= | CA1638225581 | SLC17A5 | c.186T= (p.Val62=) c.135T= (p.Val45=) c.-13T= (n.-13T=) c.61-2588T= (n.61-2588T=) c.207T= (p.Val69=) | |
| 6 | g.73644512A>C | CA450912389 | SLC17A5 | c.186T>G (p.Val62=) c.135T>G (p.Val45=) c.-13T>G (n.-13T>G) c.61-2588T>G (n.61-2588T>G) c.207T>G (p.Val69=) | |
| 6 | g.73644512A>G | CA140978029 | SLC17A5 | c.186T>C (p.Val62=) c.135T>C (p.Val45=) c.-13T>C (n.-13T>C) c.61-2588T>C (n.61-2588T>C) c.207T>C (p.Val69=) | dbSNP |
| 6 | g.73644512A>T | CA450912390 | SLC17A5 | c.186T>A (p.Val62=) c.135T>A (p.Val45=) c.-13T>A (n.-13T>A) c.61-2588T>A (n.61-2588T>A) c.207T>A (p.Val69=) | |
| 6 | g.73644513A>C | CA364719135 | SLC17A5 | c.185T>G (p.Val62Gly) c.134T>G (p.Val45Gly) c.-14T>G (n.-14T>G) c.61-2589T>G (n.61-2589T>G) c.206T>G (p.Val69Gly) | gnomAD v4 |
| 6 | g.73644513A>G | CA364719138 | SLC17A5 | c.185T>C (p.Val62Ala) c.134T>C (p.Val45Ala) c.-14T>C (n.-14T>C) c.61-2589T>C (n.61-2589T>C) c.206T>C (p.Val69Ala) | |
| 6 | g.73644513A>T | CA364719141 | SLC17A5 | c.185T>A (p.Val62Asp) c.134T>A (p.Val45Asp) c.-14T>A (n.-14T>A) c.61-2589T>A (n.61-2589T>A) c.206T>A (p.Val69Asp) | |
| 6 | g.73644514C>A | CA364719144 | SLC17A5 | c.184G>T (p.Val62Phe) c.133G>T (p.Val45Phe) c.-15G>T (n.-15G>T) c.61-2590G>T (n.61-2590G>T) c.205G>T (p.Val69Phe) | |
| 6 | g.73644514C>G | CA364719146 | SLC17A5 | c.184G>C (p.Val62Leu) c.133G>C (p.Val45Leu) c.-15G>C (n.-15G>C) c.61-2590G>C (n.61-2590G>C) c.205G>C (p.Val69Leu) | |
| 6 | g.73644514C>T | CA364719148 | SLC17A5 | c.184G>A (p.Val62Ile) c.133G>A (p.Val45Ile) c.-15G>A (n.-15G>A) c.61-2590G>A (n.61-2590G>A) c.205G>A (p.Val69Ile) | |
| 6 | g.73644515A>C | CA364719149 | SLC17A5 | c.183T>G (p.Ser61Arg) c.132T>G (p.Ser44Arg) c.-16T>G (n.-16T>G) c.61-2591T>G (n.61-2591T>G) c.204T>G (p.Ser68Arg) | |
| 6 | g.73644515A>G | CA450912391 | SLC17A5 | c.183T>C (p.Ser61=) c.132T>C (p.Ser44=) c.-16T>C (n.-16T>C) c.61-2591T>C (n.61-2591T>C) c.204T>C (p.Ser68=) | |
| 6 | g.73644515A>T | CA364719150 | SLC17A5 | c.183T>A (p.Ser61Arg) c.132T>A (p.Ser44Arg) c.-16T>A (n.-16T>A) c.61-2591T>A (n.61-2591T>A) c.204T>A (p.Ser68Arg) | |
| 6 | g.73644516C>A | CA364719154 | SLC17A5 | c.182G>T (p.Ser61Ile) c.131G>T (p.Ser44Ile) c.-17G>T (n.-17G>T) c.61-2592G>T (n.61-2592G>T) c.203G>T (p.Ser68Ile) | |
| 6 | g.73644516C>G | CA364719156 | SLC17A5 | c.182G>C (p.Ser61Thr) c.131G>C (p.Ser44Thr) c.-17G>C (n.-17G>C) c.61-2592G>C (n.61-2592G>C) c.203G>C (p.Ser68Thr) | |
| 6 | g.73644516C>T | CA364719152 | SLC17A5 | c.182G>A (p.Ser61Asn) c.131G>A (p.Ser44Asn) c.-17G>A (n.-17G>A) c.61-2592G>A (n.61-2592G>A) c.203G>A (p.Ser68Asn) | gnomAD v4 |
| 6 | g.73644517T>A | CA364719160 | SLC17A5 | c.181A>T (p.Ser61Cys) c.130A>T (p.Ser44Cys) c.-18A>T (n.-18A>T) c.61-2593A>T (n.61-2593A>T) c.202A>T (p.Ser68Cys) | gnomAD v4 |
| 6 | g.73644517T>C | CA364719158 | SLC17A5 | c.181A>G (p.Ser61Gly) c.130A>G (p.Ser44Gly) c.-18A>G (n.-18A>G) c.61-2593A>G (n.61-2593A>G) c.202A>G (p.Ser68Gly) | |
| 6 | g.73644517T>G | CA364719162 | SLC17A5 | c.181A>C (p.Ser61Arg) c.130A>C (p.Ser44Arg) c.-18A>C (n.-18A>C) c.61-2593A>C (n.61-2593A>C) c.202A>C (p.Ser68Arg) | |
| 6 | g.73644518C>A | CA450912392 | SLC17A5 | c.180G>T (p.Leu60=) c.129G>T (p.Leu43=) c.-19G>T (n.-19G>T) c.61-2594G>T (n.61-2594G>T) c.201G>T (p.Leu67=) | |
| 6 | g.73644518C>G | CA450912393 | SLC17A5 | c.180G>C (p.Leu60=) c.129G>C (p.Leu43=) c.-19G>C (n.-19G>C) c.61-2594G>C (n.61-2594G>C) c.201G>C (p.Leu67=) | ClinVar |
| 6 | g.73644518C>T | CA450912394 | SLC17A5 | c.180G>A (p.Leu60=) c.129G>A (p.Leu43=) c.-19G>A (n.-19G>A) c.61-2594G>A (n.61-2594G>A) c.201G>A (p.Leu67=) | |
| 6 | g.73644519A= | CA1638225584 | SLC17A5 | c.179T= (p.Leu60=) c.128T= (p.Leu43=) c.-20T= (n.-20T=) c.61-2595T= (n.61-2595T=) c.200T= (p.Leu67=) | |
| 6 | g.73644519A>C | CA364719163 | SLC17A5 | c.179T>G (p.Leu60Arg) c.128T>G (p.Leu43Arg) c.-20T>G (n.-20T>G) c.61-2595T>G (n.61-2595T>G) c.200T>G (p.Leu67Arg) | |
| 6 | g.73644519A>G | CA364719167 | SLC17A5 | c.179T>C (p.Leu60Pro) c.128T>C (p.Leu43Pro) c.-20T>C (n.-20T>C) c.61-2595T>C (n.61-2595T>C) c.200T>C (p.Leu67Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644519A>T | CA364719165 | SLC17A5 | c.179T>A (p.Leu60Gln) c.128T>A (p.Leu43Gln) c.-20T>A (n.-20T>A) c.61-2595T>A (n.61-2595T>A) c.200T>A (p.Leu67Gln) | |
| 6 | g.73644519dup | CA2679405064 | SLC17A5 | c.179dup (p.Ser61GlufsTer17) c.128dup (p.Ser44GlufsTer17) c.-20dup (n.-20dup) c.61-2595dup (n.61-2595dup) c.200dup (p.Ser68GlufsTer17) | gnomAD v4 |
| 6 | g.73644520G>A | CA450912395 | SLC17A5 | c.178C>T (p.Leu60=) c.127C>T (p.Leu43=) c.-21C>T (n.-21C>T) c.61-2596C>T (n.61-2596C>T) c.199C>T (p.Leu67=) | ClinVar |
| 6 | g.73644520G>C | CA364719168 | SLC17A5 | c.178C>G (p.Leu60Val) c.127C>G (p.Leu43Val) c.-21C>G (n.-21C>G) c.61-2596C>G (n.61-2596C>G) c.199C>G (p.Leu67Val) | |
| 6 | g.73644520G>T | CA364719170 | SLC17A5 | c.178C>A (p.Leu60Met) c.127C>A (p.Leu43Met) c.-21C>A (n.-21C>A) c.61-2596C>A (n.61-2596C>A) c.199C>A (p.Leu67Met) | |
| 6 | g.73644521A>C | CA364719175 | SLC17A5 | c.177T>G (p.Asn59Lys) c.126T>G (p.Asn42Lys) c.-22T>G (n.-22T>G) c.61-2597T>G (n.61-2597T>G) c.198T>G (p.Asn66Lys) | |
| 6 | g.73644521A>G | CA450912396 | SLC17A5 | c.177T>C (p.Asn59=) c.126T>C (p.Asn42=) c.-22T>C (n.-22T>C) c.61-2597T>C (n.61-2597T>C) c.198T>C (p.Asn66=) | dbSNP |
| 6 | g.73644521A>T | CA364719177 | SLC17A5 | c.177T>A (p.Asn59Lys) c.126T>A (p.Asn42Lys) c.-22T>A (n.-22T>A) c.61-2597T>A (n.61-2597T>A) c.198T>A (p.Asn66Lys) | |
| 6 | g.73644522T>A | CA364719178 | SLC17A5 | c.176A>T (p.Asn59Ile) c.125A>T (p.Asn42Ile) c.-23A>T (n.-23A>T) c.61-2598A>T (n.61-2598A>T) c.197A>T (p.Asn66Ile) | |
| 6 | g.73644522T>C | CA364719179 | SLC17A5 | c.176A>G (p.Asn59Ser) c.125A>G (p.Asn42Ser) c.-23A>G (n.-23A>G) c.61-2598A>G (n.61-2598A>G) c.197A>G (p.Asn66Ser) | gnomAD v4 |
| 6 | g.73644522T>G | CA364719180 | SLC17A5 | c.176A>C (p.Asn59Thr) c.125A>C (p.Asn42Thr) c.-23A>C (n.-23A>C) c.61-2598A>C (n.61-2598A>C) c.197A>C (p.Asn66Thr) | |
| 6 | g.73644523T>A | CA364719181 | SLC17A5 | c.175A>T (p.Asn59Tyr) c.124A>T (p.Asn42Tyr) c.-24A>T (n.-24A>T) c.61-2599A>T (n.61-2599A>T) c.196A>T (p.Asn66Tyr) | |
| 6 | g.73644523T>C | CA364719182 | SLC17A5 | c.175A>G (p.Asn59Asp) c.124A>G (p.Asn42Asp) c.-24A>G (n.-24A>G) c.61-2599A>G (n.61-2599A>G) c.196A>G (p.Asn66Asp) | |
| 6 | g.73644523T>G | CA364719183 | SLC17A5 | c.175A>C (p.Asn59His) c.124A>C (p.Asn42His) c.-24A>C (n.-24A>C) c.61-2599A>C (n.61-2599A>C) c.196A>C (p.Asn66His) | |
| 6 | g.73644524C>A | CA450912397 | SLC17A5 | c.174G>T (p.Val58=) c.123G>T (p.Val41=) c.-25G>T (n.-25G>T) c.61-2600G>T (n.61-2600G>T) c.195G>T (p.Val65=) | |
| 6 | g.73644524C= | CA1638225586 | SLC17A5 | c.174G= (p.Val58=) c.123G= (p.Val41=) c.-25G= (n.-25G=) c.61-2600G= (n.61-2600G=) c.195G= (p.Val65=) | |
| 6 | g.73644524C>G | CA450912398 | SLC17A5 | c.174G>C (p.Val58=) c.123G>C (p.Val41=) c.-25G>C (n.-25G>C) c.61-2600G>C (n.61-2600G>C) c.195G>C (p.Val65=) | |
| 6 | g.73644524C>T | CA450912399 | SLC17A5 | c.174G>A (p.Val58=) c.123G>A (p.Val41=) c.-25G>A (n.-25G>A) c.61-2600G>A (n.61-2600G>A) c.195G>A (p.Val65=) | dbSNP |
| 6 | g.73644525A>C | CA364719186 | SLC17A5 | c.173T>G (p.Val58Gly) c.122T>G (p.Val41Gly) c.-26T>G (n.-26T>G) c.61-2601T>G (n.61-2601T>G) c.194T>G (p.Val65Gly) | |
| 6 | g.73644525A>G | CA364719185 | SLC17A5 | c.173T>C (p.Val58Ala) c.122T>C (p.Val41Ala) c.-26T>C (n.-26T>C) c.61-2601T>C (n.61-2601T>C) c.194T>C (p.Val65Ala) | |
| 6 | g.73644525A>T | CA364719184 | SLC17A5 | c.173T>A (p.Val58Glu) c.122T>A (p.Val41Glu) c.-26T>A (n.-26T>A) c.61-2601T>A (n.61-2601T>A) c.194T>A (p.Val65Glu) | |
| 6 | g.73644526C>A | CA364719187 | SLC17A5 | c.172G>T (p.Val58Leu) c.121G>T (p.Val41Leu) c.-27G>T (n.-27G>T) c.61-2602G>T (n.61-2602G>T) c.193G>T (p.Val65Leu) | |
| 6 | g.73644526C>G | CA364719188 | SLC17A5 | c.172G>C (p.Val58Leu) c.121G>C (p.Val41Leu) c.-27G>C (n.-27G>C) c.61-2602G>C (n.61-2602G>C) c.193G>C (p.Val65Leu) | |
| 6 | g.73644526C>T | CA364719189 | SLC17A5 | c.172G>A (p.Val58Met) c.121G>A (p.Val41Met) c.-27G>A (n.-27G>A) c.61-2602G>A (n.61-2602G>A) c.193G>A (p.Val65Met) | |
| 6 | g.73644527A>C | CA450912400 | SLC17A5 | c.171T>G (p.Arg57=) c.120T>G (p.Arg40=) c.-28T>G (n.-28T>G) c.61-2603T>G (n.61-2603T>G) c.192T>G (p.Arg64=) | |
| 6 | g.73644527A>G | CA450912401 | SLC17A5 | c.171T>C (p.Arg57=) c.120T>C (p.Arg40=) c.-28T>C (n.-28T>C) c.61-2603T>C (n.61-2603T>C) c.192T>C (p.Arg64=) | |
| 6 | g.73644527A>T | CA450912402 | SLC17A5 | c.171T>A (p.Arg57=) c.120T>A (p.Arg40=) c.-28T>A (n.-28T>A) c.61-2603T>A (n.61-2603T>A) c.192T>A (p.Arg64=) | |
| 6 | g.73644528C>A | CA364719190 | SLC17A5 | c.170G>T (p.Arg57Leu) c.119G>T (p.Arg40Leu) c.-29G>T (n.-29G>T) c.61-2604G>T (n.61-2604G>T) c.191G>T (p.Arg64Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644528C= | CA1638225590 | SLC17A5 | c.170G= (p.Arg57=) c.119G= (p.Arg40=) c.-29G= (n.-29G=) c.61-2604G= (n.61-2604G=) c.191G= (p.Arg64=) | |
| 6 | g.73644528C>G | CA364719191 | SLC17A5 | c.170G>C (p.Arg57Pro) c.119G>C (p.Arg40Pro) c.-29G>C (n.-29G>C) c.61-2604G>C (n.61-2604G>C) c.191G>C (p.Arg64Pro) | gnomAD v4 |
| 6 | g.73644528C>T | CA3890594 | SLC17A5 | c.170G>A (p.Arg57His) c.119G>A (p.Arg40His) c.-29G>A (n.-29G>A) c.61-2604G>A (n.61-2604G>A) c.191G>A (p.Arg64His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644529G>A | CA3890595 | SLC17A5 | c.169C>T (p.Arg57Cys) c.118C>T (p.Arg40Cys) c.-30C>T (n.-30C>T) c.61-2605C>T (n.61-2605C>T) c.190C>T (p.Arg64Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.73644529G>C | CA364719192 | SLC17A5 | c.169C>G (p.Arg57Gly) c.118C>G (p.Arg40Gly) c.-30C>G (n.-30C>G) c.61-2605C>G (n.61-2605C>G) c.190C>G (p.Arg64Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644529G= | CA1638225593 | SLC17A5 | c.169C= (p.Arg57=) c.118C= (p.Arg40=) c.-30C= (n.-30C=) c.61-2605C= (n.61-2605C=) c.190C= (p.Arg64=) | |
| 6 | g.73644529G>T | CA364719193 | SLC17A5 | c.169C>A (p.Arg57Ser) c.118C>A (p.Arg40Ser) c.-30C>A (n.-30C>A) c.61-2605C>A (n.61-2605C>A) c.190C>A (p.Arg64Ser) | |
| 6 | g.73644530T>A | CA364719194 | SLC17A5 | c.168A>T (p.Leu56Phe) c.117A>T (p.Leu39Phe) c.-31A>T (n.-31A>T) c.61-2606A>T (n.61-2606A>T) c.189A>T (p.Leu63Phe) | |
| 6 | g.73644530T>C | CA450912403 | SLC17A5 | c.168A>G (p.Leu56=) c.117A>G (p.Leu39=) c.-31A>G (n.-31A>G) c.61-2606A>G (n.61-2606A>G) c.189A>G (p.Leu63=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.73644530T>G | CA364719195 | SLC17A5 | c.168A>C (p.Leu56Phe) c.117A>C (p.Leu39Phe) c.-31A>C (n.-31A>C) c.61-2606A>C (n.61-2606A>C) c.189A>C (p.Leu63Phe) | |
| 6 | g.73644530T= | CA1638225599 | SLC17A5 | c.168A= (p.Leu56=) c.117A= (p.Leu39=) c.-31A= (n.-31A=) c.61-2606A= (n.61-2606A=) c.189A= (p.Leu63=) | |
| 6 | g.73644531A>C | CA364719201 | SLC17A5 | c.167T>G (p.Leu56Ter) c.116T>G (p.Leu39Ter) c.-32T>G (n.-32T>G) c.61-2607T>G (n.61-2607T>G) c.188T>G (p.Leu63Ter) | |
| 6 | g.73644531A>G | CA364719199 | SLC17A5 | c.167T>C (p.Leu56Ser) c.116T>C (p.Leu39Ser) c.-32T>C (n.-32T>C) c.61-2607T>C (n.61-2607T>C) c.188T>C (p.Leu63Ser) | |
| 6 | g.73644531A>T | CA364719197 | SLC17A5 | c.167T>A (p.Leu56Ter) c.116T>A (p.Leu39Ter) c.-32T>A (n.-32T>A) c.61-2607T>A (n.61-2607T>A) c.188T>A (p.Leu63Ter) | |
| 6 | g.73644532A>C | CA364719203 | SLC17A5 | c.166T>G (p.Leu56Val) c.115T>G (p.Leu39Val) c.-33T>G (n.-33T>G) c.61-2608T>G (n.61-2608T>G) c.187T>G (p.Leu63Val) | |
| 6 | g.73644532A>G | CA450912404 | SLC17A5 | c.166T>C (p.Leu56=) c.115T>C (p.Leu39=) c.-33T>C (n.-33T>C) c.61-2608T>C (n.61-2608T>C) c.187T>C (p.Leu63=) | gnomAD v4 |
| 6 | g.73644532A>T | CA364719204 | SLC17A5 | c.166T>A (p.Leu56Ile) c.115T>A (p.Leu39Ile) c.-33T>A (n.-33T>A) c.61-2608T>A (n.61-2608T>A) c.187T>A (p.Leu63Ile) | |
| 6 | g.73644533del | CA2679405065 | SLC17A5 | c.165del (p.Leu56TyrfsTer3) c.114del (p.Leu39TyrfsTer3) c.-34del (n.-34del) c.61-2609del (n.61-2609del) c.186del (p.Leu63TyrfsTer3) | gnomAD v4 |
| 6 | g.73644533T>A | CA450912407 | SLC17A5 | c.165A>T (p.Ala55=) c.114A>T (p.Ala38=) c.-34A>T (n.-34A>T) c.61-2609A>T (n.61-2609A>T) c.186A>T (p.Ala62=) | |
| 6 | g.73644533T>C | CA450912406 | SLC17A5 | c.165A>G (p.Ala55=) c.114A>G (p.Ala38=) c.-34A>G (n.-34A>G) c.61-2609A>G (n.61-2609A>G) c.186A>G (p.Ala62=) | |
| 6 | g.73644533T>G | CA450912405 | SLC17A5 | c.165A>C (p.Ala55=) c.114A>C (p.Ala38=) c.-34A>C (n.-34A>C) c.61-2609A>C (n.61-2609A>C) c.186A>C (p.Ala62=) | |
| 6 | g.73644534G>A | CA364719205 | SLC17A5 | c.164C>T (p.Ala55Val) c.113C>T (p.Ala38Val) c.-35C>T (n.-35C>T) c.61-2610C>T (n.61-2610C>T) c.185C>T (p.Ala62Val) | gnomAD v4 |
| 6 | g.73644534G>C | CA364719206 | SLC17A5 | c.164C>G (p.Ala55Gly) c.113C>G (p.Ala38Gly) c.-35C>G (n.-35C>G) c.61-2610C>G (n.61-2610C>G) c.185C>G (p.Ala62Gly) | |
| 6 | g.73644534G= | CA1638225601 | SLC17A5 | c.164C= (p.Ala55=) c.113C= (p.Ala38=) c.-35C= (n.-35C=) c.61-2610C= (n.61-2610C=) c.185C= (p.Ala62=) | |
| 6 | g.73644534G>T | CA364719207 | SLC17A5 | c.164C>A (p.Ala55Glu) c.113C>A (p.Ala38Glu) c.-35C>A (n.-35C>A) c.61-2610C>A (n.61-2610C>A) c.185C>A (p.Ala62Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644535C>A | CA364719209 | SLC17A5 | c.163G>T (p.Ala55Ser) c.112G>T (p.Ala38Ser) c.-36G>T (n.-36G>T) c.61-2611G>T (n.61-2611G>T) c.184G>T (p.Ala62Ser) | |
| 6 | g.73644535C= | CA1638225603 | SLC17A5 | c.163G= (p.Ala55=) c.112G= (p.Ala38=) c.-36G= (n.-36G=) c.61-2611G= (n.61-2611G=) c.184G= (p.Ala62=) | |
| 6 | g.73644535C>G | CA364719211 | SLC17A5 | c.163G>C (p.Ala55Pro) c.112G>C (p.Ala38Pro) c.-36G>C (n.-36G>C) c.61-2611G>C (n.61-2611G>C) c.184G>C (p.Ala62Pro) | |
| 6 | g.73644535C>T | CA3890596 | SLC17A5 | c.163G>A (p.Ala55Thr) c.112G>A (p.Ala38Thr) c.-36G>A (n.-36G>A) c.61-2611G>A (n.61-2611G>A) c.184G>A (p.Ala62Thr) | dbSNP ExAC gnomAD v4 |
| 6 | g.73644536A>C | CA364719213 | SLC17A5 | c.162T>G (p.Tyr54Ter) c.111T>G (p.Tyr37Ter) c.-37T>G (n.-37T>G) c.61-2612T>G (n.61-2612T>G) c.183T>G (p.Tyr61Ter) | |
| 6 | g.73644536A>G | CA450912408 | SLC17A5 | c.162T>C (p.Tyr54=) c.111T>C (p.Tyr37=) c.-37T>C (n.-37T>C) c.61-2612T>C (n.61-2612T>C) c.183T>C (p.Tyr61=) | |
| 6 | g.73644536A>T | CA364719214 | SLC17A5 | c.162T>A (p.Tyr54Ter) c.111T>A (p.Tyr37Ter) c.-37T>A (n.-37T>A) c.61-2612T>A (n.61-2612T>A) c.183T>A (p.Tyr61Ter) | |
| 6 | g.73644537T>A | CA364719216 | SLC17A5 | c.161A>T (p.Tyr54Phe) c.110A>T (p.Tyr37Phe) c.-38A>T (n.-38A>T) c.61-2613A>T (n.61-2613A>T) c.182A>T (p.Tyr61Phe) | |
| 6 | g.73644537T>C | CA3890597 | SLC17A5 | c.161A>G (p.Tyr54Cys) c.110A>G (p.Tyr37Cys) c.-38A>G (n.-38A>G) c.61-2613A>G (n.61-2613A>G) c.182A>G (p.Tyr61Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644537T>G | CA364719218 | SLC17A5 | c.161A>C (p.Tyr54Ser) c.110A>C (p.Tyr37Ser) c.-38A>C (n.-38A>C) c.61-2613A>C (n.61-2613A>C) c.182A>C (p.Tyr61Ser) | |
| 6 | g.73644537T= | CA1638225605 | SLC17A5 | c.161A= (p.Tyr54=) c.110A= (p.Tyr37=) c.-38A= (n.-38A=) c.61-2613A= (n.61-2613A=) c.182A= (p.Tyr61=) | |
| 6 | g.73644538A>C | CA364719219 | SLC17A5 | c.160T>G (p.Tyr54Asp) c.109T>G (p.Tyr37Asp) c.-39T>G (n.-39T>G) c.61-2614T>G (n.61-2614T>G) c.181T>G (p.Tyr61Asp) | |
| 6 | g.73644538A>G | CA364719222 | SLC17A5 | c.160T>C (p.Tyr54His) c.109T>C (p.Tyr37His) c.-39T>C (n.-39T>C) c.61-2614T>C (n.61-2614T>C) c.181T>C (p.Tyr61His) | |
| 6 | g.73644538A>T | CA364719221 | SLC17A5 | c.160T>A (p.Tyr54Asn) c.109T>A (p.Tyr37Asn) c.-39T>A (n.-39T>A) c.61-2614T>A (n.61-2614T>A) c.181T>A (p.Tyr61Asn) | |
| 6 | g.73644539C>A | CA450912410 | SLC17A5 | c.159G>T (p.Val53=) c.108G>T (p.Val36=) c.-40G>T (n.-40G>T) c.61-2615G>T (n.61-2615G>T) c.180G>T (p.Val60=) | |
| 6 | g.73644539C= | CA1638225607 | SLC17A5 | c.159G= (p.Val53=) c.108G= (p.Val36=) c.-40G= (n.-40G=) c.61-2615G= (n.61-2615G=) c.180G= (p.Val60=) | |
| 6 | g.73644539C>G | CA450912409 | SLC17A5 | c.159G>C (p.Val53=) c.108G>C (p.Val36=) c.-40G>C (n.-40G>C) c.61-2615G>C (n.61-2615G>C) c.180G>C (p.Val60=) | |
| 6 | g.73644539C>T | CA3890598 | SLC17A5 | c.159G>A (p.Val53=) c.108G>A (p.Val36=) c.-40G>A (n.-40G>A) c.61-2615G>A (n.61-2615G>A) c.180G>A (p.Val60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644540A>C | CA364719224 | SLC17A5 | c.158T>G (p.Val53Gly) c.107T>G (p.Val36Gly) c.-41T>G (n.-41T>G) c.61-2616T>G (n.61-2616T>G) c.179T>G (p.Val60Gly) | |
| 6 | g.73644540A>G | CA364719226 | SLC17A5 | c.158T>C (p.Val53Ala) c.107T>C (p.Val36Ala) c.-41T>C (n.-41T>C) c.61-2616T>C (n.61-2616T>C) c.179T>C (p.Val60Ala) | gnomAD v4 |
| 6 | g.73644540A>T | CA364719227 | SLC17A5 | c.158T>A (p.Val53Glu) c.107T>A (p.Val36Glu) c.-41T>A (n.-41T>A) c.61-2616T>A (n.61-2616T>A) c.179T>A (p.Val60Glu) | |
| 6 | g.73644541del | CA2499218524 | SLC17A5 | c.157del (p.Val53CysfsTer6) c.106del (p.Val36CysfsTer6) c.-42del (n.-42del) c.61-2617del (n.61-2617del) c.178del (p.Val60CysfsTer6) | ClinVar dbSNP |
| 6 | g.73644541C>A | CA364719229 | SLC17A5 | c.157G>T (p.Val53Leu) c.106G>T (p.Val36Leu) c.-42G>T (n.-42G>T) c.61-2617G>T (n.61-2617G>T) c.178G>T (p.Val60Leu) | |
| 6 | g.73644541C>G | CA364719231 | SLC17A5 | c.157G>C (p.Val53Leu) c.106G>C (p.Val36Leu) c.-42G>C (n.-42G>C) c.61-2617G>C (n.61-2617G>C) c.178G>C (p.Val60Leu) | |
| 6 | g.73644541C>T | CA364719233 | SLC17A5 | c.157G>A (p.Val53Met) c.106G>A (p.Val36Met) c.-42G>A (n.-42G>A) c.61-2617G>A (n.61-2617G>A) c.178G>A (p.Val60Met) | |
| 6 | g.73644542A= | CA1638225608 | SLC17A5 | c.156T= (p.Ile52=) c.105T= (p.Ile35=) c.-43T= (n.-43T=) c.61-2618T= (n.61-2618T=) c.177T= (p.Ile59=) | |
| 6 | g.73644542A>C | CA364719234 | SLC17A5 | c.156T>G (p.Ile52Met) c.105T>G (p.Ile35Met) c.-43T>G (n.-43T>G) c.61-2618T>G (n.61-2618T>G) c.177T>G (p.Ile59Met) | |
| 6 | g.73644542A>G | CA450912411 | SLC17A5 | c.156T>C (p.Ile52=) c.105T>C (p.Ile35=) c.-43T>C (n.-43T>C) c.61-2618T>C (n.61-2618T>C) c.177T>C (p.Ile59=) | ClinVar dbSNP |
| 6 | g.73644542A>T | CA450912412 | SLC17A5 | c.156T>A (p.Ile52=) c.105T>A (p.Ile35=) c.-43T>A (n.-43T>A) c.61-2618T>A (n.61-2618T>A) c.177T>A (p.Ile59=) | |
| 6 | g.73644543A>C | CA364719236 | SLC17A5 | c.155T>G (p.Ile52Ser) c.104T>G (p.Ile35Ser) c.-44T>G (n.-44T>G) c.61-2619T>G (n.61-2619T>G) c.176T>G (p.Ile59Ser) | |
| 6 | g.73644543A>G | CA364719237 | SLC17A5 | c.155T>C (p.Ile52Thr) c.104T>C (p.Ile35Thr) c.-44T>C (n.-44T>C) c.61-2619T>C (n.61-2619T>C) c.176T>C (p.Ile59Thr) | |
| 6 | g.73644543A>T | CA364719239 | SLC17A5 | c.155T>A (p.Ile52Asn) c.104T>A (p.Ile35Asn) c.-44T>A (n.-44T>A) c.61-2619T>A (n.61-2619T>A) c.176T>A (p.Ile59Asn) | |
| 6 | g.73644544T>A | CA364719242 | SLC17A5 | c.154A>T (p.Ile52Phe) c.103A>T (p.Ile35Phe) c.-45A>T (n.-45A>T) c.61-2620A>T (n.61-2620A>T) c.175A>T (p.Ile59Phe) | |
| 6 | g.73644544T>C | CA364719244 | SLC17A5 | c.154A>G (p.Ile52Val) c.103A>G (p.Ile35Val) c.-45A>G (n.-45A>G) c.61-2620A>G (n.61-2620A>G) c.175A>G (p.Ile59Val) | gnomAD v4 |
| 6 | g.73644544T>G | CA364719241 | SLC17A5 | c.154A>C (p.Ile52Leu) c.103A>C (p.Ile35Leu) c.-45A>C (n.-45A>C) c.61-2620A>C (n.61-2620A>C) c.175A>C (p.Ile59Leu) | |
| 6 | g.73644545G>A | CA450912413 | SLC17A5 | c.153C>T (p.Phe51=) c.102C>T (p.Phe34=) c.-46C>T (n.-46C>T) c.61-2621C>T (n.61-2621C>T) c.174C>T (p.Phe58=) | |
| 6 | g.73644545G>C | CA364719247 | SLC17A5 | c.153C>G (p.Phe51Leu) c.102C>G (p.Phe34Leu) c.-46C>G (n.-46C>G) c.61-2621C>G (n.61-2621C>G) c.174C>G (p.Phe58Leu) | |
| 6 | g.73644545G>T | CA364719246 | SLC17A5 | c.153C>A (p.Phe51Leu) c.102C>A (p.Phe34Leu) c.-46C>A (n.-46C>A) c.61-2621C>A (n.61-2621C>A) c.174C>A (p.Phe58Leu) | |
| 6 | g.73644546A>C | CA364719249 | SLC17A5 | c.152T>G (p.Phe51Cys) c.101T>G (p.Phe34Cys) c.-47T>G (n.-47T>G) c.61-2622T>G (n.61-2622T>G) c.173T>G (p.Phe58Cys) | |
| 6 | g.73644546A>G | CA364719250 | SLC17A5 | c.152T>C (p.Phe51Ser) c.101T>C (p.Phe34Ser) c.-47T>C (n.-47T>C) c.61-2622T>C (n.61-2622T>C) c.173T>C (p.Phe58Ser) | |
| 6 | g.73644546A>T | CA364719252 | SLC17A5 | c.152T>A (p.Phe51Tyr) c.101T>A (p.Phe34Tyr) c.-47T>A (n.-47T>A) c.61-2622T>A (n.61-2622T>A) c.173T>A (p.Phe58Tyr) | |
| 6 | g.73644547A>C | CA364719253 | SLC17A5 | c.151T>G (p.Phe51Val) c.100T>G (p.Phe34Val) c.-48T>G (n.-48T>G) c.61-2623T>G (n.61-2623T>G) c.172T>G (p.Phe58Val) | |
| 6 | g.73644547A>G | CA364719254 | SLC17A5 | c.151T>C (p.Phe51Leu) c.100T>C (p.Phe34Leu) c.-48T>C (n.-48T>C) c.61-2623T>C (n.61-2623T>C) c.172T>C (p.Phe58Leu) | |
| 6 | g.73644547A>T | CA364719256 | SLC17A5 | c.151T>A (p.Phe51Ile) c.100T>A (p.Phe34Ile) c.-48T>A (n.-48T>A) c.61-2623T>A (n.61-2623T>A) c.172T>A (p.Phe58Ile) | |
| 6 | g.73644548G>A | CA450912414 | SLC17A5 | c.150C>T (p.Phe50=) c.99C>T (p.Phe33=) c.-49C>T (n.-49C>T) c.61-2624C>T (n.61-2624C>T) c.171C>T (p.Phe57=) | gnomAD v4 |
| 6 | g.73644548G>C | CA364719259 | SLC17A5 | c.150C>G (p.Phe50Leu) c.99C>G (p.Phe33Leu) c.-49C>G (n.-49C>G) c.61-2624C>G (n.61-2624C>G) c.171C>G (p.Phe57Leu) | |
| 6 | g.73644548G>T | CA364719260 | SLC17A5 | c.150C>A (p.Phe50Leu) c.99C>A (p.Phe33Leu) c.-49C>A (n.-49C>A) c.61-2624C>A (n.61-2624C>A) c.171C>A (p.Phe57Leu) | |
| 6 | g.73644549A>C | CA364719263 | SLC17A5 | c.149T>G (p.Phe50Cys) c.98T>G (p.Phe33Cys) c.-50T>G (n.-50T>G) c.61-2625T>G (n.61-2625T>G) c.170T>G (p.Phe57Cys) | |
| 6 | g.73644549A>G | CA364719264 | SLC17A5 | c.149T>C (p.Phe50Ser) c.98T>C (p.Phe33Ser) c.-50T>C (n.-50T>C) c.61-2625T>C (n.61-2625T>C) c.170T>C (p.Phe57Ser) | |
| 6 | g.73644549A>T | CA364719265 | SLC17A5 | c.149T>A (p.Phe50Tyr) c.98T>A (p.Phe33Tyr) c.-50T>A (n.-50T>A) c.61-2625T>A (n.61-2625T>A) c.170T>A (p.Phe57Tyr) | |
| 6 | g.73644550A>C | CA364719268 | SLC17A5 | c.148T>G (p.Phe50Val) c.97T>G (p.Phe33Val) c.-51T>G (n.-51T>G) c.61-2626T>G (n.61-2626T>G) c.169T>G (p.Phe57Val) | |
| 6 | g.73644550A>G | CA364719270 | SLC17A5 | c.148T>C (p.Phe50Leu) c.97T>C (p.Phe33Leu) c.-51T>C (n.-51T>C) c.61-2626T>C (n.61-2626T>C) c.169T>C (p.Phe57Leu) | |
| 6 | g.73644550A>T | CA364719266 | SLC17A5 | c.148T>A (p.Phe50Ile) c.97T>A (p.Phe33Ile) c.-51T>A (n.-51T>A) c.61-2626T>A (n.61-2626T>A) c.169T>A (p.Phe57Ile) | |
| 6 | g.73644551A>C | CA450912415 | SLC17A5 | c.147T>G (p.Gly49=) c.96T>G (p.Gly32=) c.-52T>G (n.-52T>G) c.61-2627T>G (n.61-2627T>G) c.168T>G (p.Gly56=) | |
| 6 | g.73644551A>G | CA450912416 | SLC17A5 | c.147T>C (p.Gly49=) c.96T>C (p.Gly32=) c.-52T>C (n.-52T>C) c.61-2627T>C (n.61-2627T>C) c.168T>C (p.Gly56=) | |
| 6 | g.73644551A>T | CA450912417 | SLC17A5 | c.147T>A (p.Gly49=) c.96T>A (p.Gly32=) c.-52T>A (n.-52T>A) c.61-2627T>A (n.61-2627T>A) c.168T>A (p.Gly56=) | |
| 6 | g.73644552C>A | CA364719272 | SLC17A5 | c.146G>T (p.Gly49Val) c.95G>T (p.Gly32Val) c.-53G>T (n.-53G>T) c.61-2628G>T (n.61-2628G>T) c.167G>T (p.Gly56Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644552C= | CA1638225612 | SLC17A5 | c.146G= (p.Gly49=) c.95G= (p.Gly32=) c.-53G= (n.-53G=) c.61-2628G= (n.61-2628G=) c.167G= (p.Gly56=) | |
| 6 | g.73644552C>G | CA364719274 | SLC17A5 | c.146G>C (p.Gly49Ala) c.95G>C (p.Gly32Ala) c.-53G>C (n.-53G>C) c.61-2628G>C (n.61-2628G>C) c.167G>C (p.Gly56Ala) | |
| 6 | g.73644552C>T | CA3890599 | SLC17A5 | c.146G>A (p.Gly49Asp) c.95G>A (p.Gly32Asp) c.-53G>A (n.-53G>A) c.61-2628G>A (n.61-2628G>A) c.167G>A (p.Gly56Asp) | dbSNP ExAC gnomAD v2 |
| 6 | g.73644553del | CA2499218525 | SLC17A5 | c.146del (p.Gly49ValfsTer10) c.95del (p.Gly32ValfsTer10) c.-53del (n.-53del) c.61-2628del (n.61-2628del) c.167del (p.Gly56ValfsTer10) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73644553C>A | CA364719275 | SLC17A5 | c.145G>T (p.Gly49Cys) c.94G>T (p.Gly32Cys) c.-54G>T (n.-54G>T) c.61-2629G>T (n.61-2629G>T) c.166G>T (p.Gly56Cys) | |
| 6 | g.73644553C>G | CA364719277 | SLC17A5 | c.145G>C (p.Gly49Arg) c.94G>C (p.Gly32Arg) c.-54G>C (n.-54G>C) c.61-2629G>C (n.61-2629G>C) c.166G>C (p.Gly56Arg) | |
| 6 | g.73644553C>T | CA364719279 | SLC17A5 | c.145G>A (p.Gly49Ser) c.94G>A (p.Gly32Ser) c.-54G>A (n.-54G>A) c.61-2629G>A (n.61-2629G>A) c.166G>A (p.Gly56Ser) | |
| 6 | g.73644553_73644554delinsCA | CA1638225615 | SLC17A5 | c.144_145delinsTG (p.Phe48=) c.93_94delinsTG (p.Phe31=) c.-55_-54delinsTG (n.-55_-54delinsTG) c.61-2630_61-2629delinsTG (n.61-2630_61-2629delinsTG) c.165_166delinsTG (p.Phe55=) | |
| 6 | g.73644554A>C | CA364719280 | SLC17A5 | c.144T>G (p.Phe48Leu) c.93T>G (p.Phe31Leu) c.-55T>G (n.-55T>G) c.61-2630T>G (n.61-2630T>G) c.165T>G (p.Phe55Leu) | gnomAD v4 |
| 6 | g.73644554A>G | CA450912418 | SLC17A5 | c.144T>C (p.Phe48=) c.93T>C (p.Phe31=) c.-55T>C (n.-55T>C) c.61-2630T>C (n.61-2630T>C) c.165T>C (p.Phe55=) | ClinVar |
| 6 | g.73644554A>T | CA364719282 | SLC17A5 | c.144T>A (p.Phe48Leu) c.93T>A (p.Phe31Leu) c.-55T>A (n.-55T>A) c.61-2630T>A (n.61-2630T>A) c.165T>A (p.Phe55Leu) | |
| 6 | g.73644559dup | CA2499218526 | SLC17A5 | c.144dup (p.Gly49TrpfsTer29) c.93dup (p.Gly32TrpfsTer29) c.-55dup (n.-55dup) c.61-2630dup (n.61-2630dup) c.165dup (p.Gly56TrpfsTer29) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73644558_73644559dup | CA2771705384 | SLC17A5 | c.143_144dup (p.Gly49LeufsTer11) c.92_93dup (p.Gly32LeufsTer11) c.-56_-55dup (n.-56_-55dup) c.61-2631_61-2630dup (n.61-2631_61-2630dup) c.164_165dup (p.Gly56LeufsTer11) | |
| 6 | g.73644559del | CA917781248 | SLC17A5 | c.144del (p.Phe48LeufsTer11) c.93del (p.Phe31LeufsTer11) c.-55del (n.-55del) c.61-2630del (n.61-2630del) c.165del (p.Phe55LeufsTer11) | dbSNP |
| 6 | g.73644555A>C | CA364719283 | SLC17A5 | c.143T>G (p.Phe48Cys) c.92T>G (p.Phe31Cys) c.-56T>G (n.-56T>G) c.61-2631T>G (n.61-2631T>G) c.164T>G (p.Phe55Cys) | |
| 6 | g.73644555A>G | CA364719285 | SLC17A5 | c.143T>C (p.Phe48Ser) c.92T>C (p.Phe31Ser) c.-56T>C (n.-56T>C) c.61-2631T>C (n.61-2631T>C) c.164T>C (p.Phe55Ser) | |
| 6 | g.73644555A>T | CA364719287 | SLC17A5 | c.143T>A (p.Phe48Tyr) c.92T>A (p.Phe31Tyr) c.-56T>A (n.-56T>A) c.61-2631T>A (n.61-2631T>A) c.164T>A (p.Phe55Tyr) | |
| 6 | g.73644556A>C | CA364719289 | SLC17A5 | c.142T>G (p.Phe48Val) c.91T>G (p.Phe31Val) c.-57T>G (n.-57T>G) c.61-2632T>G (n.61-2632T>G) c.163T>G (p.Phe55Val) | |
| 6 | g.73644556A>G | CA364719290 | SLC17A5 | c.142T>C (p.Phe48Leu) c.91T>C (p.Phe31Leu) c.-57T>C (n.-57T>C) c.61-2632T>C (n.61-2632T>C) c.163T>C (p.Phe55Leu) | |
| 6 | g.73644556A>T | CA364719291 | SLC17A5 | c.142T>A (p.Phe48Ile) c.91T>A (p.Phe31Ile) c.-57T>A (n.-57T>A) c.61-2632T>A (n.61-2632T>A) c.163T>A (p.Phe55Ile) |