UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1213225_1213451delinsTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC | CA1522519785 | SLC6A19 | c.664-238_664-12delinsTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC (n.664-238_664-12delinsTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC) c.572-238_572-12delinsTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC (n.572-238_572-12delinsTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC) | |
| 5 | g.1213240_1213465del | CA1072492445 | SLC6A19 | c.664-223_666del c.572-223_574del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213359_1213439del | CA2518948640 | SLC6A19 | c.664-104_664-24del (n.664-104_664-24del) c.572-104_572-24del (n.572-104_572-24del) | gnomAD v4 |
| 5 | g.1213369_1213447del | CA2673072156 | SLC6A19 | c.664-94_664-16del (n.664-94_664-16del) c.572-94_572-16del (n.572-94_572-16del) | gnomAD v4 |
| 5 | g.1213369_1213448delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT | CA1522520048 | SLC6A19 | c.664-94_664-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT (n.664-94_664-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT) c.572-94_572-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT (n.572-94_572-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT) | |
| 5 | g.1213377_1213437del | CA2673072182 | SLC6A19 | c.664-86_664-26del (n.664-86_664-26del) c.572-86_572-26del (n.572-86_572-26del) | gnomAD v4 |
| 5 | g.1213377_1213455del | CA1072493006 | SLC6A19 | c.664-86_664-8del (n.664-86_664-8del) c.572-86_572-8del (n.572-86_572-8del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213392_1213437del | CA2673072239 | SLC6A19 | c.664-71_664-26del (n.664-71_664-26del) c.572-71_572-26del (n.572-71_572-26del) | gnomAD v4 |
| 5 | g.1213392_1213455del | CA2673072240 | SLC6A19 | c.664-71_664-8del (n.664-71_664-8del) c.572-71_572-8del (n.572-71_572-8del) | gnomAD v4 |
| 5 | g.1213405_1213437del | CA2673072263 | SLC6A19 | c.664-58_664-26del (n.664-58_664-26del) c.572-58_572-26del (n.572-58_572-26del) | gnomAD v4 |
| 5 | g.1213428C>A | CA2673072287 | SLC6A19 | c.664-35C>A (n.664-35C>A) c.572-35C>A (n.572-35C>A) | gnomAD v4 |
| 5 | g.1213429T>A | CA2578258900 | SLC6A19 | c.664-34T>A (n.664-34T>A) c.572-34T>A (n.572-34T>A) | gnomAD v4 |
| 5 | g.1213429T>C | CA1072493141 | SLC6A19 | c.664-34T>C (n.664-34T>C) c.572-34T>C (n.572-34T>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213429T>G | CA2572771857 | SLC6A19 | c.664-34T>G (n.664-34T>G) c.572-34T>G (n.572-34T>G) | gnomAD v4 |
| 5 | g.1213430T>C | CA112941353 | SLC6A19 | c.664-33T>C (n.664-33T>C) c.572-33T>C (n.572-33T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213430T>G | CA2765038699 | SLC6A19 | c.664-33T>G (n.664-33T>G) c.572-33T>G (n.572-33T>G) | |
| 5 | g.1213430T= | CA1522520162 | SLC6A19 | c.664-33T= (n.664-33T=) c.572-33T= (n.572-33T=) | |
| 5 | g.1213431C>A | CA1072493146 | SLC6A19 | c.664-32C>A (n.664-32C>A) c.572-32C>A (n.572-32C>A) | gnomAD v3 gnomAD v4 |
| 5 | g.1213431C= | CA1522520163 | SLC6A19 | c.664-32C= (n.664-32C=) c.572-32C= (n.572-32C=) | |
| 5 | g.1213431C>T | CA3182816 | SLC6A19 | c.664-32C>T (n.664-32C>T) c.572-32C>T (n.572-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213432C>A | CA2673072288 | SLC6A19 | c.664-31C>A (n.664-31C>A) c.572-31C>A (n.572-31C>A) | gnomAD v4 |
| 5 | g.1213432C= | CA1522520166 | SLC6A19 | c.664-31C= (n.664-31C=) c.572-31C= (n.572-31C=) | |
| 5 | g.1213432C>T | CA3182817 | SLC6A19 | c.664-31C>T (n.664-31C>T) c.572-31C>T (n.572-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213433C>A | CA1522520169 | SLC6A19 | c.664-30C>A (n.664-30C>A) c.572-30C>A (n.572-30C>A) | dbSNP gnomAD v4 |
| 5 | g.1213433C= | CA1522520168 | SLC6A19 | c.664-30C= (n.664-30C=) c.572-30C= (n.572-30C=) | |
| 5 | g.1213433C>T | CA3182818 | SLC6A19 | c.664-30C>T (n.664-30C>T) c.572-30C>T (n.572-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213434G>A | CA3182819 | SLC6A19 | c.664-29G>A (n.664-29G>A) c.572-29G>A (n.572-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213434G>C | CA2578258901 | SLC6A19 | c.664-29G>C (n.664-29G>C) c.572-29G>C (n.572-29G>C) | gnomAD v4 |
| 5 | g.1213434G= | CA1522520171 | SLC6A19 | c.664-29G= (n.664-29G=) c.572-29G= (n.572-29G=) | |
| 5 | g.1213434G>T | CA2673072289 | SLC6A19 | c.664-29G>T (n.664-29G>T) c.572-29G>T (n.572-29G>T) | gnomAD v4 |
| 5 | g.1213435C>A | CA2673072290 | SLC6A19 | c.664-28C>A (n.664-28C>A) c.572-28C>A (n.572-28C>A) | gnomAD v4 |
| 5 | g.1213436C>A | CA2673072291 | SLC6A19 | c.664-27C>A (n.664-27C>A) c.572-27C>A (n.572-27C>A) | gnomAD v4 |
| 5 | g.1213436C= | CA1522520172 | SLC6A19 | c.664-27C= (n.664-27C=) c.572-27C= (n.572-27C=) | |
| 5 | g.1213436C>G | CA802930407 | SLC6A19 | c.664-27C>G (n.664-27C>G) c.572-27C>G (n.572-27C>G) | dbSNP gnomAD v4 |
| 5 | g.1213437C>A | CA2578258902 | SLC6A19 | c.664-26C>A (n.664-26C>A) c.572-26C>A (n.572-26C>A) | gnomAD v4 |
| 5 | g.1213437C>T | CA2673072292 | SLC6A19 | c.664-26C>T (n.664-26C>T) c.572-26C>T (n.572-26C>T) | gnomAD v4 |
| 5 | g.1213438A= | CA1522520174 | SLC6A19 | c.664-25A= (n.664-25A=) c.572-25A= (n.572-25A=) | |
| 5 | g.1213438A>C | CA1072493149 | SLC6A19 | c.664-25A>C (n.664-25A>C) c.572-25A>C (n.572-25A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213438A>G | CA2673072293 | SLC6A19 | c.664-25A>G (n.664-25A>G) c.572-25A>G (n.572-25A>G) | gnomAD v4 |
| 5 | g.1213439T>A | CA2578258903 | SLC6A19 | c.664-24T>A (n.664-24T>A) c.572-24T>A (n.572-24T>A) | gnomAD v4 |
| 5 | g.1213440C>A | CA3182820 | SLC6A19 | c.664-23C>A (n.664-23C>A) c.572-23C>A (n.572-23C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213440C= | CA1522520175 | SLC6A19 | c.664-23C= (n.664-23C=) c.572-23C= (n.572-23C=) | |
| 5 | g.1213441C>A | CA2673072294 | SLC6A19 | c.664-22C>A (n.664-22C>A) c.572-22C>A (n.572-22C>A) | gnomAD v4 |
| 5 | g.1213441C= | CA1522520177 | SLC6A19 | c.664-22C= (n.664-22C=) c.572-22C= (n.572-22C=) | |
| 5 | g.1213441C>T | CA1522520178 | SLC6A19 | c.664-22C>T (n.664-22C>T) c.572-22C>T (n.572-22C>T) | dbSNP gnomAD v4 |
| 5 | g.1213442C>A | CA2673072295 | SLC6A19 | c.664-21C>A (n.664-21C>A) c.572-21C>A (n.572-21C>A) | gnomAD v4 |
| 5 | g.1213442C>T | CA2578258904 | SLC6A19 | c.664-21C>T (n.664-21C>T) c.572-21C>T (n.572-21C>T) | gnomAD v4 |
| 5 | g.1213443A= | CA1522520179 | SLC6A19 | c.664-20A= (n.664-20A=) c.572-20A= (n.572-20A=) | |
| 5 | g.1213443A>C | CA2673072296 | SLC6A19 | c.664-20A>C (n.664-20A>C) c.572-20A>C (n.572-20A>C) | gnomAD v4 |
| 5 | g.1213443A>G | CA2673072297 | SLC6A19 | c.664-20A>G (n.664-20A>G) c.572-20A>G (n.572-20A>G) | gnomAD v4 |
| 5 | g.1213443A>T | CA3182821 | SLC6A19 | c.664-20A>T (n.664-20A>T) c.572-20A>T (n.572-20A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213444C>A | CA2578258905 | SLC6A19 | c.664-19C>A (n.664-19C>A) c.572-19C>A (n.572-19C>A) | gnomAD v4 |
| 5 | g.1213445A>C | CA2673072298 | SLC6A19 | c.664-18A>C (n.664-18A>C) c.572-18A>C (n.572-18A>C) | gnomAD v4 |
| 5 | g.1213445A>G | CA2673072299 | SLC6A19 | c.664-18A>G (n.664-18A>G) c.572-18A>G (n.572-18A>G) | gnomAD v4 |
| 5 | g.1213446T>A | CA2578258906 | SLC6A19 | c.664-17T>A (n.664-17T>A) c.572-17T>A (n.572-17T>A) | gnomAD v4 |
| 5 | g.1213446T>C | CA2578258907 | SLC6A19 | c.664-17T>C (n.664-17T>C) c.572-17T>C (n.572-17T>C) | gnomAD v4 |
| 5 | g.1213447G>A | CA2673072300 | SLC6A19 | c.664-16G>A (n.664-16G>A) c.572-16G>A (n.572-16G>A) | gnomAD v4 |
| 5 | g.1213447G>T | CA2673072301 | SLC6A19 | c.664-16G>T (n.664-16G>T) c.572-16G>T (n.572-16G>T) | gnomAD v4 |
| 5 | g.1213448T>C | CA557557266 | SLC6A19 | c.664-15T>C (n.664-15T>C) c.572-15T>C (n.572-15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213448T>G | CA2673072302 | SLC6A19 | c.664-15T>G (n.664-15T>G) c.572-15T>G (n.572-15T>G) | gnomAD v4 |
| 5 | g.1213448T= | CA1522520183 | SLC6A19 | c.664-15T= (n.664-15T=) c.572-15T= (n.572-15T=) | |
| 5 | g.1213449C>A | CA2673072304 | SLC6A19 | c.664-14C>A (n.664-14C>A) c.572-14C>A (n.572-14C>A) | gnomAD v4 |
| 5 | g.1213449C= | CA1522520185 | SLC6A19 | c.664-14C= (n.664-14C=) c.572-14C= (n.572-14C=) | |
| 5 | g.1213449C>T | CA3182822 | SLC6A19 | c.664-14C>T (n.664-14C>T) c.572-14C>T (n.572-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213451del | CA2673072303 | SLC6A19 | c.664-12del (n.664-12del) c.572-12del (n.572-12del) | gnomAD v4 |
| 5 | g.1213450C>A | CA2673072305 | SLC6A19 | c.664-13C>A (n.664-13C>A) c.572-13C>A (n.572-13C>A) | gnomAD v4 |
| 5 | g.1213450C= | CA1522520186 | SLC6A19 | c.664-13C= (n.664-13C=) c.572-13C= (n.572-13C=) | |
| 5 | g.1213450C>G | CA2673072306 | SLC6A19 | c.664-13C>G (n.664-13C>G) c.572-13C>G (n.572-13C>G) | gnomAD v4 |
| 5 | g.1213450C>T | CA3182823 | SLC6A19 | c.664-13C>T (n.664-13C>T) c.572-13C>T (n.572-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213451C= | CA1522520188 | SLC6A19 | c.664-12C= (n.664-12C=) c.572-12C= (n.572-12C=) | |
| 5 | g.1213451C>T | CA3182824 | SLC6A19 | c.664-12C>T (n.664-12C>T) c.572-12C>T (n.572-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213452G>A | CA3182825 | SLC6A19 | c.664-11G>A (n.664-11G>A) c.572-11G>A (n.572-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213452G>C | CA2673072307 | SLC6A19 | c.664-11G>C (n.664-11G>C) c.572-11G>C (n.572-11G>C) | gnomAD v4 |
| 5 | g.1213452G= | CA1522520190 | SLC6A19 | c.664-11G= (n.664-11G=) c.572-11G= (n.572-11G=) | |
| 5 | g.1213452G>T | CA3182826 | SLC6A19 | c.664-11G>T (n.664-11G>T) c.572-11G>T (n.572-11G>T) | dbSNP ExAC |
| 5 | g.1213453C= | CA1522520193 | SLC6A19 | c.664-10C= (n.664-10C=) c.572-10C= (n.572-10C=) | |
| 5 | g.1213453C>T | CA557557272 | SLC6A19 | c.664-10C>T (n.664-10C>T) c.572-10C>T (n.572-10C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213454C= | CA1522520195 | SLC6A19 | c.664-9C= (n.664-9C=) c.572-9C= (n.572-9C=) | |
| 5 | g.1213454C>T | CA3182827 | SLC6A19 | c.664-9C>T (n.664-9C>T) c.572-9C>T (n.572-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213455C= | CA1522520200 | SLC6A19 | c.664-8C= (n.664-8C=) c.572-8C= (n.572-8C=) | |
| 5 | g.1213455C>G | CA3182828 | SLC6A19 | c.664-8C>G (n.664-8C>G) c.572-8C>G (n.572-8C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213455C>T | CA915943256 | SLC6A19 | c.664-8C>T (n.664-8C>T) c.572-8C>T (n.572-8C>T) | ClinVar dbSNP |
| 5 | g.1213456T>A | CA2578258908 | SLC6A19 | c.664-7T>A (n.664-7T>A) c.572-7T>A (n.572-7T>A) | gnomAD v4 |
| 5 | g.1213456dup | CA557557276 | SLC6A19 | c.664-7dup (n.664-7dup) c.572-7dup (n.572-7dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213457C>T | CA2573138394 | SLC6A19 | c.664-6C>T (n.664-6C>T) c.572-6C>T (n.572-6C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.1213458C= | CA1522520205 | SLC6A19 | c.664-5C= (n.664-5C=) c.572-5C= (n.572-5C=) | |
| 5 | g.1213458C>T | CA3182829 | SLC6A19 | c.664-5C>T (n.664-5C>T) c.572-5C>T (n.572-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213459G>A | CA3182830 | SLC6A19 | c.664-4G>A (n.664-4G>A) c.572-4G>A (n.572-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213459G= | CA1522520208 | SLC6A19 | c.664-4G= (n.664-4G=) c.572-4G= (n.572-4G=) | |
| 5 | g.1213461A= | CA1522520212 | SLC6A19 | c.664-2A= (n.664-2A=) c.572-2A= (n.572-2A=) | |
| 5 | g.1213461A>C | CA359067246 | SLC6A19 | c.664-2A>C (n.664-2A>C) c.572-2A>C (n.572-2A>C) | |
| 5 | g.1213461A>G | CA359067247 | SLC6A19 | c.664-2A>G (n.664-2A>G) c.572-2A>G (n.572-2A>G) | gnomAD v4 |
| 5 | g.1213461A>T | CA359067249 | SLC6A19 | c.664-2A>T (n.664-2A>T) c.572-2A>T (n.572-2A>T) | dbSNP gnomAD v4 |
| 5 | g.1213462G>A | CA359067252 | SLC6A19 | c.664-1G>A (n.664-1G>A) c.572-1G>A (n.572-1G>A) | ClinVar |
| 5 | g.1213462G>C | CA359067255 | SLC6A19 | c.664-1G>C (n.664-1G>C) c.572-1G>C (n.572-1G>C) | |
| 5 | g.1213462G>T | CA359067264 | SLC6A19 | c.664-1G>T (n.664-1G>T) c.572-1G>T (n.572-1G>T) | |
| 5 | g.1213463G>A | CA359067265 | SLC6A19 | c.664G>A (p.Ala222Thr) c.572G>A (p.Gly191Asp) | |
| 5 | g.1213463G>C | CA359067266 | SLC6A19 | c.664G>C (p.Ala222Pro) c.572G>C (p.Gly191Ala) | |
| 5 | g.1213463G>T | CA359067268 | SLC6A19 | c.664G>T (p.Ala222Ser) c.572G>T (p.Gly191Val) | |
| 5 | g.1213464C>A | CA359067271 | SLC6A19 | c.665C>A (p.Ala222Asp) c.573C>A (p.Gly191=) | |
| 5 | g.1213464C>G | CA359067272 | SLC6A19 | c.665C>G (p.Ala222Gly) c.573C>G (p.Gly191=) | |
| 5 | g.1213464C>T | CA359067276 | SLC6A19 | c.665C>T (p.Ala222Val) c.573C>T (p.Gly191=) | |
| 5 | g.1213465C>A | CA443019051 | SLC6A19 | c.666C>A (p.Ala222=) c.574C>A (p.Arg192Ser) | gnomAD v4 |
| 5 | g.1213465C= | CA1522520215 | SLC6A19 | c.666C= (p.Ala222=) c.574C= (p.Arg192=) | |
| 5 | g.1213465C>G | CA443019052 | SLC6A19 | c.666C>G (p.Ala222=) c.574C>G (p.Arg192Gly) | |
| 5 | g.1213465C>T | CA3182831 | SLC6A19 | c.666C>T (p.Ala222=) c.574C>T (p.Arg192Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213466G>A | CA3182832 | SLC6A19 | c.667G>A (p.Val223Met) c.575G>A (p.Arg192His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213466G>C | CA359067283 | SLC6A19 | c.667G>C (p.Val223Leu) c.575G>C (p.Arg192Pro) | |
| 5 | g.1213466G= | CA1522520218 | SLC6A19 | c.667G= (p.Val223=) c.575G= (p.Arg192=) | |
| 5 | g.1213466G>T | CA359067282 | SLC6A19 | c.667G>T (p.Val223Leu) c.575G>T (p.Arg192Leu) | |
| 5 | g.1213467T>A | CA359067286 | SLC6A19 | c.668T>A (p.Val223Glu) c.576T>A (p.Arg192=) | |
| 5 | g.1213467T>C | CA359067288 | SLC6A19 | c.668T>C (p.Val223Ala) c.576T>C (p.Arg192=) | |
| 5 | g.1213467T>G | CA359067296 | SLC6A19 | c.668T>G (p.Val223Gly) c.576T>G (p.Arg192=) | gnomAD v4 |
| 5 | g.1213467T= | CA1522520221 | SLC6A19 | c.668T= (p.Val223=) c.576T= (p.Arg192=) | |
| 5 | g.1213468G>A | CA443019053 | SLC6A19 | c.669G>A (p.Val223=) c.577G>A (p.Val193Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213468G>C | CA443019054 | SLC6A19 | c.669G>C (p.Val223=) c.577G>C (p.Val193Leu) | |
| 5 | g.1213468G= | CA1522520225 | SLC6A19 | c.669G= (p.Val223=) c.577G= (p.Val193=) | |
| 5 | g.1213468G>T | CA443019055 | SLC6A19 | c.669G>T (p.Val223=) c.577G>T (p.Val193Leu) | gnomAD v4 |
| 5 | g.1213468dup | CA3182833 | SLC6A19 | c.669dup (p.Tyr224ValfsTer?) c.577dup (p.Val193GlyfsTer12) | dbSNP ExAC gnomAD v4 |
| 5 | g.1213469T>A | CA112941397 | SLC6A19 | c.670T>A (p.Tyr224Asn) c.578T>A (p.Val193Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213469T>C | CA359067307 | SLC6A19 | c.670T>C (p.Tyr224His) c.578T>C (p.Val193Ala) | |
| 5 | g.1213469T>G | CA359067311 | SLC6A19 | c.670T>G (p.Tyr224Asp) c.578T>G (p.Val193Gly) | |
| 5 | g.1213469T= | CA1522520228 | SLC6A19 | c.670T= (p.Tyr224=) c.578T= (p.Val193=) | |
| 5 | g.1213470A>C | CA359067318 | SLC6A19 | c.671A>C (p.Tyr224Ser) c.579A>C (p.Val193=) | |
| 5 | g.1213470A>G | CA359067322 | SLC6A19 | c.671A>G (p.Tyr224Cys) c.579A>G (p.Val193=) | |
| 5 | g.1213470A>T | CA359067325 | SLC6A19 | c.671A>T (p.Tyr224Phe) c.579A>T (p.Val193=) | |
| 5 | g.1213471C>A | CA112941401 | SLC6A19 | c.672C>A (p.Tyr224Ter) c.580C>A (p.His194Asn) | dbSNP |
| 5 | g.1213471C= | CA1522520230 | SLC6A19 | c.672C= (p.Tyr224=) c.580C= (p.His194=) | |
| 5 | g.1213471C>G | CA359067339 | SLC6A19 | c.672C>G (p.Tyr224Ter) c.580C>G (p.His194Asp) | |
| 5 | g.1213471C>T | CA3182834 | SLC6A19 | c.672C>T (p.Tyr224=) c.580C>T (p.His194Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213472A= | CA1522520235 | SLC6A19 | c.673A= (p.Ile225=) c.581A= (p.His194=) | |
| 5 | g.1213472A>C | CA3182835 | SLC6A19 | c.673A>C (p.Ile225Leu) c.581A>C (p.His194Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.1213472A>G | CA359067346 | SLC6A19 | c.673A>G (p.Ile225Val) c.581A>G (p.His194Arg) | dbSNP gnomAD v4 |
| 5 | g.1213472A>T | CA359067344 | SLC6A19 | c.673A>T (p.Ile225Phe) c.581A>T (p.His194Leu) | |
| 5 | g.1213473T>A | CA359067347 | SLC6A19 | c.674T>A (p.Ile225Asn) c.582T>A (p.His194Gln) | |
| 5 | g.1213473T>C | CA359067348 | SLC6A19 | c.674T>C (p.Ile225Thr) c.582T>C (p.His194=) | |
| 5 | g.1213473T>G | CA359067349 | SLC6A19 | c.674T>G (p.Ile225Ser) c.582T>G (p.His194Gln) | |
| 5 | g.1213474C>A | CA443019057 | SLC6A19 | c.675C>A (p.Ile225=) c.583C>A (p.His195Asn) | gnomAD v4 |
| 5 | g.1213474C= | CA1522520237 | SLC6A19 | c.675C= (p.Ile225=) c.583C= (p.His195=) | |
| 5 | g.1213474C>G | CA359067350 | SLC6A19 | c.675C>G (p.Ile225Met) c.583C>G (p.His195Asp) | gnomAD v4 |
| 5 | g.1213474C>T | CA443019056 | SLC6A19 | c.675C>T (p.Ile225=) c.583C>T (p.His195Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213475A>C | CA359067352 | SLC6A19 | c.676A>C (p.Thr226Pro) c.584A>C (p.His195Pro) | |
| 5 | g.1213475A>G | CA359067354 | SLC6A19 | c.676A>G (p.Thr226Ala) c.584A>G (p.His195Arg) | |
| 5 | g.1213475A>T | CA359067355 | SLC6A19 | c.676A>T (p.Thr226Ser) c.584A>T (p.His195Leu) | |
| 5 | g.1213476C>A | CA359067359 | SLC6A19 | c.677C>A (p.Thr226Asn) c.585C>A (p.His195Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213476C= | CA1522520242 | SLC6A19 | c.677C= (p.Thr226=) c.585C= (p.His195=) | |
| 5 | g.1213476C>G | CA359067361 | SLC6A19 | c.677C>G (p.Thr226Ser) c.585C>G (p.His195Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213476C>T | CA359067363 | SLC6A19 | c.677C>T (p.Thr226Ile) c.585C>T (p.His195=) | gnomAD v4 |
| 5 | g.1213477C>A | CA443019058 | SLC6A19 | c.678C>A (p.Thr226=) c.586C>A (p.Leu196Ile) | COSMIC |
| 5 | g.1213477C>G | CA443019059 | SLC6A19 | c.678C>G (p.Thr226=) c.586C>G (p.Leu196Val) | |
| 5 | g.1213477C>T | CA443019060 | SLC6A19 | c.678C>T (p.Thr226=) c.586C>T (p.Leu196Phe) | |
| 5 | g.1213478T>A | CA359067372 | SLC6A19 | c.679T>A (p.Ser227Thr) c.587T>A (p.Leu196His) | |
| 5 | g.1213478T>C | CA359067374 | SLC6A19 | c.679T>C (p.Ser227Pro) c.587T>C (p.Leu196Pro) | |
| 5 | g.1213478T>G | CA359067365 | SLC6A19 | c.679T>G (p.Ser227Ala) c.587T>G (p.Leu196Arg) | |
| 5 | g.1213479C>A | CA359067377 | SLC6A19 | c.680C>A (p.Ser227Tyr) c.588C>A (p.Leu196=) | |
| 5 | g.1213479C>G | CA359067379 | SLC6A19 | c.680C>G (p.Ser227Cys) c.588C>G (p.Leu196=) | |
| 5 | g.1213479C>T | CA359067380 | SLC6A19 | c.680C>T (p.Ser227Phe) c.588C>T (p.Leu196=) | |
| 5 | g.1213480C>A | CA443019063 | SLC6A19 | c.681C>A (p.Ser227=) c.589C>A (p.His197Asn) | |
| 5 | g.1213480C>G | CA443019061 | SLC6A19 | c.681C>G (p.Ser227=) c.589C>G (p.His197Asp) | |
| 5 | g.1213480C>T | CA443019062 | SLC6A19 | c.681C>T (p.Ser227=) c.589C>T (p.His197Tyr) | gnomAD v4 |
| 5 | g.1213481A= | CA1522520246 | SLC6A19 | c.682A= (p.Thr228=) c.590A= (p.His197=) | |
| 5 | g.1213481A>C | CA359067381 | SLC6A19 | c.682A>C (p.Thr228Pro) c.590A>C (p.His197Pro) | |
| 5 | g.1213481A>G | CA359067383 | SLC6A19 | c.682A>G (p.Thr228Ala) c.590A>G (p.His197Arg) | |
| 5 | g.1213481A>T | CA359067385 | SLC6A19 | c.682A>T (p.Thr228Ser) c.590A>T (p.His197Leu) | dbSNP gnomAD v4 |
| 5 | g.1213481_1213482delinsTA | CA916079860 | SLC6A19 | c.682_683delinsTA (p.Thr228Ter) c.590_591delinsTA (p.His197Leu) | |
| 5 | g.1213482C>A | CA359067390 | SLC6A19 | c.683C>A (p.Thr228Lys) c.591C>A (p.His197Gln) | dbSNP gnomAD v4 |
| 5 | g.1213482C= | CA1522520249 | SLC6A19 | c.683C= (p.Thr228=) c.591C= (p.His197=) | |
| 5 | g.1213482C>G | CA359067387 | SLC6A19 | c.683C>G (p.Thr228Arg) c.591C>G (p.His197Gln) | |
| 5 | g.1213482C>T | CA3182836 | SLC6A19 | c.683C>T (p.Thr228Met) c.591C>T (p.His197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213483G>A | CA3182837 | SLC6A19 | c.684G>A (p.Thr228=) c.592G>A (p.Ala198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213483G>C | CA443019064 | SLC6A19 | c.684G>C (p.Thr228=) c.592G>C (p.Ala198Pro) | gnomAD v4 |
| 5 | g.1213483G= | CA1522520254 | SLC6A19 | c.684G= (p.Thr228=) c.592G= (p.Ala198=) | |
| 5 | g.1213483G>T | CA443019065 | SLC6A19 | c.684G>T (p.Thr228=) c.592G>T (p.Ala198Ser) | |
| 5 | g.1213484C>A | CA359067391 | SLC6A19 | c.685C>A (p.Leu229Met) c.593C>A (p.Ala198Asp) | |
| 5 | g.1213484C>G | CA359067392 | SLC6A19 | c.685C>G (p.Leu229Val) c.593C>G (p.Ala198Gly) | |
| 5 | g.1213484C>T | CA443019066 | SLC6A19 | c.685C>T (p.Leu229=) c.593C>T (p.Ala198Val) | |
| 5 | g.1213485T>A | CA359067394 | SLC6A19 | c.686T>A (p.Leu229Gln) c.594T>A (p.Ala198=) | |
| 5 | g.1213485T>C | CA359067396 | SLC6A19 | c.686T>C (p.Leu229Pro) c.594T>C (p.Ala198=) | |
| 5 | g.1213485T>G | CA359067403 | SLC6A19 | c.686T>G (p.Leu229Arg) c.594T>G (p.Ala198=) | |
| 5 | g.1213486G>A | CA443019067 | SLC6A19 | c.687G>A (p.Leu229=) c.595G>A (p.Ala199Thr) | |
| 5 | g.1213486G>C | CA443019068 | SLC6A19 | c.687G>C (p.Leu229=) c.595G>C (p.Ala199Pro) | |
| 5 | g.1213486G= | CA1522520257 | SLC6A19 | c.687G= (p.Leu229=) c.595G= (p.Ala199=) | |
| 5 | g.1213486G>T | CA443019069 | SLC6A19 | c.687G>T (p.Leu229=) c.595G>T (p.Ala199Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213487C>A | CA359067405 | SLC6A19 | c.688C>A (p.Pro230Thr) c.596C>A (p.Ala199Asp) | |
| 5 | g.1213487C= | CA1522520259 | SLC6A19 | c.688C= (p.Pro230=) c.596C= (p.Ala199=) | |
| 5 | g.1213487C>G | CA359067409 | SLC6A19 | c.688C>G (p.Pro230Ala) c.596C>G (p.Ala199Gly) | |
| 5 | g.1213487C>T | CA3182838 | SLC6A19 | c.688C>T (p.Pro230Ser) c.596C>T (p.Ala199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213488C>A | CA359067412 | SLC6A19 | c.689C>A (p.Pro230His) c.597C>A (p.Ala199=) | |
| 5 | g.1213488C>G | CA359067414 | SLC6A19 | c.689C>G (p.Pro230Arg) c.597C>G (p.Ala199=) | |
| 5 | g.1213488C>T | CA359067418 | SLC6A19 | c.689C>T (p.Pro230Leu) c.597C>T (p.Ala199=) | |
| 5 | g.1213489C>A | CA443019070 | SLC6A19 | c.690C>A (p.Pro230=) c.598C>A (p.Leu200Ile) | gnomAD v4 |
| 5 | g.1213489C>G | CA443019071 | SLC6A19 | c.690C>G (p.Pro230=) c.598C>G (p.Leu200Val) | gnomAD v4 COSMIC |
| 5 | g.1213489C>T | CA443019072 | SLC6A19 | c.690C>T (p.Pro230=) c.598C>T (p.Leu200=) | |
| 5 | g.1213490T>A | CA359067419 | SLC6A19 | c.691T>A (p.Tyr231Asn) c.599T>A (p.Leu200Gln) | |
| 5 | g.1213490T>C | CA359067422 | SLC6A19 | c.691T>C (p.Tyr231His) c.599T>C (p.Leu200Pro) | |
| 5 | g.1213490T>G | CA359067424 | SLC6A19 | c.691T>G (p.Tyr231Asp) c.599T>G (p.Leu200Arg) | |
| 5 | g.1213491A= | CA1522520261 | SLC6A19 | c.692A= (p.Tyr231=) c.600A= (p.Leu200=) | |
| 5 | g.1213491A>C | CA359067427 | SLC6A19 | c.692A>C (p.Tyr231Ser) c.600A>C (p.Leu200=) | |
| 5 | g.1213491A>G | CA112941447 | SLC6A19 | c.692A>G (p.Tyr231Cys) c.600A>G (p.Leu200=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.1213491A>T | CA359067431 | SLC6A19 | c.692A>T (p.Tyr231Phe) c.600A>T (p.Leu200=) | |
| 5 | g.1213492T>A | CA359067435 | SLC6A19 | c.693T>A (p.Tyr231Ter) c.601T>A (p.Cys201Ser) | |
| 5 | g.1213492T>C | CA112941451 | SLC6A19 | c.693T>C (p.Tyr231=) c.601T>C (p.Cys201Arg) | dbSNP gnomAD v4 |
| 5 | g.1213492T>G | CA359067438 | SLC6A19 | c.693T>G (p.Tyr231Ter) c.601T>G (p.Cys201Gly) | |
| 5 | g.1213492T= | CA1522520264 | SLC6A19 | c.693T= (p.Tyr231=) c.601T= (p.Cys201=) | |
| 5 | g.1213492dup | CA2673072308 | SLC6A19 | c.693dup (p.Val232CysfsTer?) c.601dup (p.Cys201LeufsTer4) | gnomAD v4 |
| 5 | g.1213493G>A | CA359067440 | SLC6A19 | c.694G>A (p.Val232Ile) c.602G>A (p.Cys201Tyr) | |
| 5 | g.1213493G>C | CA359067444 | SLC6A19 | c.694G>C (p.Val232Leu) c.602G>C (p.Cys201Ser) | |
| 5 | g.1213493G>T | CA359067442 | SLC6A19 | c.694G>T (p.Val232Phe) c.602G>T (p.Cys201Phe) | |
| 5 | g.1213494T>A | CA359067451 | SLC6A19 | c.695T>A (p.Val232Asp) c.603T>A (p.Cys201Ter) | |
| 5 | g.1213494T>C | CA359067452 | SLC6A19 | c.695T>C (p.Val232Ala) c.603T>C (p.Cys201=) | COSMIC |
| 5 | g.1213494T>G | CA359067455 | SLC6A19 | c.695T>G (p.Val232Gly) c.603T>G (p.Cys201Trp) | |
| 5 | g.1213495C>A | CA443019076 | SLC6A19 | c.696C>A (p.Val232=) c.604C>A (p.Arg202Ser) | |
| 5 | g.1213495C= | CA1522520267 | SLC6A19 | c.696C= (p.Val232=) c.604C= (p.Arg202=) | |
| 5 | g.1213495C>G | CA443019075 | SLC6A19 | c.696C>G (p.Val232=) c.604C>G (p.Arg202Gly) | gnomAD v4 |
| 5 | g.1213495C>T | CA3182839 | SLC6A19 | c.696C>T (p.Val232=) c.604C>T (p.Arg202Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213496G>A | CA3182840 | SLC6A19 | c.697G>A (p.Val233Ile) c.605G>A (p.Arg202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213496G>C | CA359067461 | SLC6A19 | c.697G>C (p.Val233Leu) c.605G>C (p.Arg202Pro) | |
| 5 | g.1213496G= | CA1522520269 | SLC6A19 | c.697G= (p.Val233=) c.605G= (p.Arg202=) | |
| 5 | g.1213496G>T | CA359067463 | SLC6A19 | c.697G>T (p.Val233Phe) c.605G>T (p.Arg202Leu) | gnomAD v4 |
| 5 | g.1213497T>A | CA359067466 | SLC6A19 | c.698T>A (p.Val233Asp) c.606T>A (p.Arg202=) | |
| 5 | g.1213497T>C | CA359067468 | SLC6A19 | c.698T>C (p.Val233Ala) c.606T>C (p.Arg202=) | |
| 5 | g.1213497T>G | CA359067469 | SLC6A19 | c.698T>G (p.Val233Gly) c.606T>G (p.Arg202=) | |
| 5 | g.1213498C>A | CA443019077 | SLC6A19 | c.699C>A (p.Val233=) c.607C>A (p.Pro203Thr) | |
| 5 | g.1213498C>G | CA443019078 | SLC6A19 | c.699C>G (p.Val233=) c.607C>G (p.Pro203Ala) | |
| 5 | g.1213498C>T | CA443019079 | SLC6A19 | c.699C>T (p.Val233=) c.607C>T (p.Pro203Ser) | |
| 5 | g.1213499del | CA2708146467 | SLC6A19 | c.700del (p.Leu234Ter) c.608del (p.Pro203LeufsTer?) | dbSNP |
| 5 | g.1213499C>A | CA359067472 | SLC6A19 | c.700C>A (p.Leu234Met) c.608C>A (p.Pro203His) | |
| 5 | g.1213499C>G | CA359067476 | SLC6A19 | c.700C>G (p.Leu234Val) c.608C>G (p.Pro203Arg) | gnomAD v4 |
| 5 | g.1213499C>T | CA443019080 | SLC6A19 | c.700C>T (p.Leu234=) c.608C>T (p.Pro203Leu) | |
| 5 | g.1213500T>A | CA359067484 | SLC6A19 | c.701T>A (p.Leu234Gln) c.609T>A (p.Pro203=) | |
| 5 | g.1213500T>C | CA359067482 | SLC6A19 | c.701T>C (p.Leu234Pro) c.609T>C (p.Pro203=) | |
| 5 | g.1213500T>G | CA359067478 | SLC6A19 | c.701T>G (p.Leu234Arg) c.609T>G (p.Pro203=) | |
| 5 | g.1213501G>A | CA443019082 | SLC6A19 | c.702G>A (p.Leu234=) c.610G>A (p.Asp204Asn) | |
| 5 | g.1213501G>C | CA443019081 | SLC6A19 | c.702G>C (p.Leu234=) c.610G>C (p.Asp204His) | |
| 5 | g.1213501G>T | CA443019083 | SLC6A19 | c.702G>T (p.Leu234=) c.610G>T (p.Asp204Tyr) | |
| 5 | g.1213502A>C | CA359067487 | SLC6A19 | c.703A>C (p.Thr235Pro) c.611A>C (p.Asp204Ala) | |
| 5 | g.1213502A>G | CA359067489 | SLC6A19 | c.703A>G (p.Thr235Ala) c.611A>G (p.Asp204Gly) | |
| 5 | g.1213502A>T | CA359067490 | SLC6A19 | c.703A>T (p.Thr235Ser) c.611A>T (p.Asp204Val) | |
| 5 | g.1213503C>A | CA359067492 | SLC6A19 | c.704C>A (p.Thr235Asn) c.612C>A (p.Asp204Glu) | gnomAD v4 |
| 5 | g.1213503C= | CA1522520271 | SLC6A19 | c.704C= (p.Thr235=) c.612C= (p.Asp204=) | |
| 5 | g.1213503C>G | CA359067494 | SLC6A19 | c.704C>G (p.Thr235Ser) c.612C>G (p.Asp204Glu) | |
| 5 | g.1213503C>T | CA359067497 | SLC6A19 | c.704C>T (p.Thr235Ile) c.612C>T (p.Asp204=) | dbSNP |
| 5 | g.1213504C>A | CA443019084 | SLC6A19 | c.705C>A (p.Thr235=) c.613C>A (p.His205Asn) | |
| 5 | g.1213504C= | CA1522520274 | SLC6A19 | c.705C= (p.Thr235=) c.613C= (p.His205=) | |
| 5 | g.1213504C>G | CA443019085 | SLC6A19 | c.705C>G (p.Thr235=) c.613C>G (p.His205Asp) | |
| 5 | g.1213504C>T | CA443019086 | SLC6A19 | c.705C>T (p.Thr235=) c.613C>T (p.His205Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213505A>C | CA359067500 | SLC6A19 | c.706A>C (p.Ile236Leu) c.614A>C (p.His205Pro) | |
| 5 | g.1213505A>G | CA359067502 | SLC6A19 | c.706A>G (p.Ile236Val) c.614A>G (p.His205Arg) | |
| 5 | g.1213505A>T | CA359067503 | SLC6A19 | c.706A>T (p.Ile236Phe) c.614A>T (p.His205Leu) | |
| 5 | g.1213506T>A | CA359067507 | SLC6A19 | c.707T>A (p.Ile236Asn) c.615T>A (p.His205Gln) | |
| 5 | g.1213506T>C | CA359067509 | SLC6A19 | c.707T>C (p.Ile236Thr) c.615T>C (p.His205=) | gnomAD v4 |
| 5 | g.1213506T>G | CA359067510 | SLC6A19 | c.707T>G (p.Ile236Ser) c.615T>G (p.His205Gln) | |
| 5 | g.1213507C>A | CA443019087 | SLC6A19 | c.708C>A (p.Ile236=) c.616C>A (p.Leu206Ile) | |
| 5 | g.1213507C= | CA1522520277 | SLC6A19 | c.708C= (p.Ile236=) c.616C= (p.Leu206=) | |
| 5 | g.1213507C>G | CA3182841 | SLC6A19 | c.708C>G (p.Ile236Met) c.616C>G (p.Leu206Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213507C>T | CA443019088 | SLC6A19 | c.708C>T (p.Ile236=) c.616C>T (p.Leu206Phe) | dbSNP |
| 5 | g.1213508T>A | CA359067516 | SLC6A19 | c.709T>A (p.Phe237Ile) c.617T>A (p.Leu206His) | |
| 5 | g.1213508T>C | CA359067519 | SLC6A19 | c.709T>C (p.Phe237Leu) c.617T>C (p.Leu206Pro) | ClinVar gnomAD v4 |
| 5 | g.1213508T>G | CA359067513 | SLC6A19 | c.709T>G (p.Phe237Val) c.617T>G (p.Leu206Arg) | |
| 5 | g.1213509T>A | CA359067527 | SLC6A19 | c.710T>A (p.Phe237Tyr) c.618T>A (p.Leu206=) | |
| 5 | g.1213509T>C | CA359067525 | SLC6A19 | c.710T>C (p.Phe237Ser) c.618T>C (p.Leu206=) | |
| 5 | g.1213509T>G | CA359067531 | SLC6A19 | c.710T>G (p.Phe237Cys) c.618T>G (p.Leu206=) | |
| 5 | g.1213510C>A | CA359067533 | SLC6A19 | c.711C>A (p.Phe237Leu) c.619C>A (p.Pro207Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213510C= | CA1522520280 | SLC6A19 | c.711C= (p.Phe237=) c.619C= (p.Pro207=) | |
| 5 | g.1213510C>G | CA359067534 | SLC6A19 | c.711C>G (p.Phe237Leu) c.619C>G (p.Pro207Ala) | |
| 5 | g.1213510C>T | CA443019091 | SLC6A19 | c.711C>T (p.Phe237=) c.619C>T (p.Pro207Ser) | gnomAD v4 |
| 5 | g.1213511C>A | CA359067535 | SLC6A19 | c.712C>A (p.Leu238Ile) c.620C>A (p.Pro207His) | |
| 5 | g.1213511C= | CA1522520284 | SLC6A19 | c.712C= (p.Leu238=) c.620C= (p.Pro207=) | |
| 5 | g.1213511C>G | CA112941467 | SLC6A19 | c.712C>G (p.Leu238Val) c.620C>G (p.Pro207Arg) | dbSNP |
| 5 | g.1213511C>T | CA359067536 | SLC6A19 | c.712C>T (p.Leu238Phe) c.620C>T (p.Pro207Leu) | ClinVar dbSNP |
| 5 | g.1213512T>A | CA359067541 | SLC6A19 | c.713T>A (p.Leu238His) c.621T>A (p.Pro207=) | |
| 5 | g.1213512T>C | CA359067543 | SLC6A19 | c.713T>C (p.Leu238Pro) c.621T>C (p.Pro207=) | |
| 5 | g.1213512T>G | CA359067550 | SLC6A19 | c.713T>G (p.Leu238Arg) c.621T>G (p.Pro207=) | |
| 5 | g.1213513C>A | CA443019094 | SLC6A19 | c.714C>A (p.Leu238=) c.622C>A (p.His208Asn) | |
| 5 | g.1213513C= | CA1522520288 | SLC6A19 | c.714C= (p.Leu238=) c.622C= (p.His208=) | |
| 5 | g.1213513C>G | CA443019095 | SLC6A19 | c.714C>G (p.Leu238=) c.622C>G (p.His208Asp) | |
| 5 | g.1213513C>T | CA3182842 | SLC6A19 | c.714C>T (p.Leu238=) c.622C>T (p.His208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213514A>C | CA359067553 | SLC6A19 | c.715A>C (p.Ile239Leu) c.623A>C (p.His208Pro) | |
| 5 | g.1213514A>G | CA359067555 | SLC6A19 | c.715A>G (p.Ile239Val) c.623A>G (p.His208Arg) | |
| 5 | g.1213514A>T | CA359067562 | SLC6A19 | c.715A>T (p.Ile239Phe) c.623A>T (p.His208Leu) | |
| 5 | g.1213515_1213519del | CA2578258909 | SLC6A19 | c.716_720del (p.Ile239ArgfsTer?) c.624_628del (p.His208GlnfsTer3) | |
| 5 | g.1213515T>A | CA359067565 | SLC6A19 | c.716T>A (p.Ile239Asn) c.624T>A (p.His208Gln) | gnomAD v4 |
| 5 | g.1213515T>C | CA359067574 | SLC6A19 | c.716T>C (p.Ile239Thr) c.624T>C (p.His208=) | |
| 5 | g.1213515T>G | CA359067576 | SLC6A19 | c.716T>G (p.Ile239Ser) c.624T>G (p.His208Gln) | |
| 5 | g.1213516C>A | CA443019099 | SLC6A19 | c.717C>A (p.Ile239=) c.625C>A (p.Pro209Thr) | ClinVar gnomAD v4 |
| 5 | g.1213516C= | CA1522520291 | SLC6A19 | c.717C= (p.Ile239=) c.625C= (p.Pro209=) | |
| 5 | g.1213516C>G | CA3182843 | SLC6A19 | c.717C>G (p.Ile239Met) c.625C>G (p.Pro209Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213516C>T | CA443019101 | SLC6A19 | c.717C>T (p.Ile239=) c.625C>T (p.Pro209Ser) | |
| 5 | g.1213517C>A | CA443019102 | SLC6A19 | c.718C>A (p.Arg240=) c.626C>A (p.Pro209Gln) | |
| 5 | g.1213517C= | CA1522520294 | SLC6A19 | c.718C= (p.Arg240=) c.626C= (p.Pro209=) | |
| 5 | g.1213517C>G | CA359067582 | SLC6A19 | c.718C>G (p.Arg240Gly) c.626C>G (p.Pro209Arg) | gnomAD v4 |
| 5 | g.1213517C>T | CA115308 | SLC6A19 | c.718C>T (p.Arg240Ter) c.626C>T (p.Pro209Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213518G>A | CA3182844 | SLC6A19 | c.719G>A (p.Arg240Gln) c.627G>A (p.Pro209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213518G>C | CA3182845 | SLC6A19 | c.719G>C (p.Arg240Pro) c.627G>C (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213518G= | CA1522520297 | SLC6A19 | c.719G= (p.Arg240=) c.627G= (p.Pro209=) | |
| 5 | g.1213518G>T | CA359067594 | SLC6A19 | c.719G>T (p.Arg240Leu) c.627G>T (p.Pro209=) | |
| 5 | g.1213519A= | CA1522520303 | SLC6A19 | c.720A= (p.Arg240=) c.628A= (p.Arg210=) | |
| 5 | g.1213519A>C | CA443019107 | SLC6A19 | c.720A>C (p.Arg240=) c.628A>C (p.Arg210=) | ClinVar dbSNP |
| 5 | g.1213519A>G | CA443019109 | SLC6A19 | c.720A>G (p.Arg240=) c.628A>G (p.Arg210Gly) | |
| 5 | g.1213519A>T | CA443019110 | SLC6A19 | c.720A>T (p.Arg240=) c.628A>T (p.Arg210Trp) | |
| 5 | g.1213520G>A | CA359067597 | SLC6A19 | c.721G>A (p.Gly241Ser) c.629G>A (p.Arg210Lys) | gnomAD v4 |
| 5 | g.1213520G>C | CA359067602 | SLC6A19 | c.721G>C (p.Gly241Arg) c.629G>C (p.Arg210Thr) | |
| 5 | g.1213520G= | CA1522520305 | SLC6A19 | c.721G= (p.Gly241=) c.629G= (p.Arg210=) | |
| 5 | g.1213520G>T | CA359067604 | SLC6A19 | c.721G>T (p.Gly241Cys) c.629G>T (p.Arg210Met) | dbSNP |
| 5 | g.1213521G>A | CA359067607 | SLC6A19 | c.722G>A (p.Gly241Asp) c.630G>A (p.Arg210=) | COSMIC |
| 5 | g.1213521G>C | CA359067609 | SLC6A19 | c.722G>C (p.Gly241Ala) c.630G>C (p.Arg210Ser) | |
| 5 | g.1213521G>T | CA359067612 | SLC6A19 | c.722G>T (p.Gly241Val) c.630G>T (p.Arg210Ser) | |
| 5 | g.1213522C>A | CA443019117 | SLC6A19 | c.723C>A (p.Gly241=) c.631C>A (p.Pro211Thr) | |
| 5 | g.1213522C= | CA1522520309 | SLC6A19 | c.723C= (p.Gly241=) c.631C= (p.Pro211=) | |
| 5 | g.1213522C>G | CA443019115 | SLC6A19 | c.723C>G (p.Gly241=) c.631C>G (p.Pro211Ala) | |
| 5 | g.1213522C>T | CA3182846 | SLC6A19 | c.723C>T (p.Gly241=) c.631C>T (p.Pro211Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213523C>A | CA359067616 | SLC6A19 | c.724C>A (p.Leu242Met) c.632C>A (p.Pro211His) | |
| 5 | g.1213523C>G | CA359067618 | SLC6A19 | c.724C>G (p.Leu242Val) c.632C>G (p.Pro211Arg) | |
| 5 | g.1213523C>T | CA443019119 | SLC6A19 | c.724C>T (p.Leu242=) c.632C>T (p.Pro211Leu) | gnomAD v4 |
| 5 | g.1213524T>A | CA359067628 | SLC6A19 | c.725T>A (p.Leu242Gln) c.633T>A (p.Pro211=) | |
| 5 | g.1213524T>C | CA3182847 | SLC6A19 | c.725T>C (p.Leu242Pro) c.633T>C (p.Pro211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213524T>G | CA359067621 | SLC6A19 | c.725T>G (p.Leu242Arg) c.633T>G (p.Pro211=) | |
| 5 | g.1213524T= | CA1522520312 | SLC6A19 | c.725T= (p.Leu242=) c.633T= (p.Pro211=) | |
| 5 | g.1213525G>A | CA443019120 | SLC6A19 | c.726G>A (p.Leu242=) c.634G>A (p.Asp212Asn) | |
| 5 | g.1213525G>C | CA443019121 | SLC6A19 | c.726G>C (p.Leu242=) c.634G>C (p.Asp212His) | |
| 5 | g.1213525G>T | CA443019122 | SLC6A19 | c.726G>T (p.Leu242=) c.634G>T (p.Asp212Tyr) | |
| 5 | g.1213526A= | CA1522520316 | SLC6A19 | c.727A= (p.Thr243=) c.635A= (p.Asp212=) | |
| 5 | g.1213526A>C | CA359067635 | SLC6A19 | c.727A>C (p.Thr243Pro) c.635A>C (p.Asp212Ala) | |
| 5 | g.1213526A>G | CA359067638 | SLC6A19 | c.727A>G (p.Thr243Ala) c.635A>G (p.Asp212Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213526A>T | CA359067641 | SLC6A19 | c.727A>T (p.Thr243Ser) c.635A>T (p.Asp212Val) | |
| 5 | g.1213526_1213527delinsAC | CA1522520317 | SLC6A19 | c.727_728delinsAC (p.Thr243=) c.635_636delinsAC (p.Asp212=) | |
| 5 | g.1213527del | CA891862678 | SLC6A19 | c.728del (p.Thr243SerfsTer2) c.636del (p.Asp212GlufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213527C>A | CA359067645 | SLC6A19 | c.728C>A (p.Thr243Lys) c.636C>A (p.Asp212Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213527C= | CA1522520326 | SLC6A19 | c.728C= (p.Thr243=) c.636C= (p.Asp212=) | |
| 5 | g.1213527C>G | CA359067646 | SLC6A19 | c.728C>G (p.Thr243Arg) c.636C>G (p.Asp212Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213527C>T | CA3182848 | SLC6A19 | c.728C>T (p.Thr243Met) c.636C>T (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213528G>A | CA112941516 | SLC6A19 | c.729G>A (p.Thr243=) c.637G>A (p.Ala213Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213528G>C | CA443019128 | SLC6A19 | c.729G>C (p.Thr243=) c.637G>C (p.Ala213Pro) | |
| 5 | g.1213528G= | CA1522520331 | SLC6A19 | c.729G= (p.Thr243=) c.637G= (p.Ala213=) | |
| 5 | g.1213528G>T | CA3182849 | SLC6A19 | c.729G>T (p.Thr243=) c.637G>T (p.Ala213Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |