| 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.1213312_1213424del | CA2571778441 | SLC6A19 | c.664-151_664-39del (n.664-151_664-39del) c.572-151_572-39del (n.572-151_572-39del) | |
| 5 | g.1213307_1213417delinsCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT | CA1522519941 | SLC6A19 | c.664-156_664-46delinsCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT (n.664-156_664-46delinsCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT) c.572-156_572-46delinsCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT (n.572-156_572-46delinsCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT) | |
| 5 | g.1213308_1213417del | CA1072492920 | SLC6A19 | c.664-155_664-46del (n.664-155_664-46del) c.572-155_572-46del (n.572-155_572-46del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213313_1213425del | CA2673072044 | SLC6A19 | c.664-150_664-38del (n.664-150_664-38del) c.572-150_572-38del (n.572-150_572-38del) | gnomAD v4 |
| 5 | g.1213334_1213417del | CA2673072067 | SLC6A19 | c.664-129_664-46del (n.664-129_664-46del) c.572-129_572-46del (n.572-129_572-46del) | gnomAD v4 |
| 5 | g.1213342_1213425del | CA2673072084 | SLC6A19 | c.664-121_664-38del (n.664-121_664-38del) c.572-121_572-38del (n.572-121_572-38del) | gnomAD v4 |
| 5 | g.1213357_1213424del | CA1072492970 | SLC6A19 | c.664-106_664-39del (n.664-106_664-39del) c.572-106_572-39del (n.572-106_572-39del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213358_1213426del | CA2673072126 | SLC6A19 | c.664-105_664-37del (n.664-105_664-37del) c.572-105_572-37del (n.572-105_572-37del) | 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.1213417T>A | CA2673072278 | SLC6A19 | c.664-46T>A (n.664-46T>A) c.572-46T>A (n.572-46T>A) | gnomAD v4 |
| 5 | g.1213417T>C | CA2534416511 | SLC6A19 | c.664-46T>C (n.664-46T>C) c.572-46T>C (n.572-46T>C) | gnomAD v4 |
| 5 | g.1213417T>G | CA2673072279 | SLC6A19 | c.664-46T>G (n.664-46T>G) c.572-46T>G (n.572-46T>G) | gnomAD v4 |
| 5 | g.1213419G>A | CA557557256 | SLC6A19 | c.664-44G>A (n.664-44G>A) c.572-44G>A (n.572-44G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213419G>C | CA2673072280 | SLC6A19 | c.664-44G>C (n.664-44G>C) c.572-44G>C (n.572-44G>C) | gnomAD v4 |
| 5 | g.1213419G= | CA1522520144 | SLC6A19 | c.664-44G= (n.664-44G=) c.572-44G= (n.572-44G=) | |
| 5 | g.1213419G>T | CA2673072281 | SLC6A19 | c.664-44G>T (n.664-44G>T) c.572-44G>T (n.572-44G>T) | gnomAD v4 |
| 5 | g.1213419_1213420delinsGC | CA1522520143 | SLC6A19 | c.664-44_664-43delinsGC (n.664-44_664-43delinsGC) c.572-44_572-43delinsGC (n.572-44_572-43delinsGC) | |
| 5 | g.1213420C>A | CA3182813 | SLC6A19 | c.664-43C>A (n.664-43C>A) c.572-43C>A (n.572-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213420C= | CA1522520148 | SLC6A19 | c.664-43C= (n.664-43C=) c.572-43C= (n.572-43C=) | |
| 5 | g.1213420C>G | CA557557257 | SLC6A19 | c.664-43C>G (n.664-43C>G) c.572-43C>G (n.572-43C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213420C>T | CA557557258 | SLC6A19 | c.664-43C>T (n.664-43C>T) c.572-43C>T (n.572-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213425dup | CA2673072282 | SLC6A19 | c.664-38dup (n.664-38dup) c.572-38dup (n.572-38dup) | gnomAD v4 |
| 5 | g.1213425del | CA3182812 | SLC6A19 | c.664-38del (n.664-38del) c.572-38del (n.572-38del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213421C>A | CA557557259 | SLC6A19 | c.664-42C>A (n.664-42C>A) c.572-42C>A (n.572-42C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213421C= | CA1522520152 | SLC6A19 | c.664-42C= (n.664-42C=) c.572-42C= (n.572-42C=) | |
| 5 | g.1213421C>T | CA557557260 | SLC6A19 | c.664-42C>T (n.664-42C>T) c.572-42C>T (n.572-42C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213421_1213422insT | CA2578258895 | SLC6A19 | c.664-42_664-41insT (n.664-42_664-41insT) c.572-42_572-41insT (n.572-42_572-41insT) | |
| 5 | g.1213422C>A | CA2673072283 | SLC6A19 | c.664-41C>A (n.664-41C>A) c.572-41C>A (n.572-41C>A) | gnomAD v4 |
| 5 | g.1213422C>T | CA2578258896 | SLC6A19 | c.664-41C>T (n.664-41C>T) c.572-41C>T (n.572-41C>T) | |
| 5 | g.1213423C>A | CA2673072284 | SLC6A19 | c.664-40C>A (n.664-40C>A) c.572-40C>A (n.572-40C>A) | gnomAD v4 |
| 5 | g.1213423C= | CA1522520154 | SLC6A19 | c.664-40C= (n.664-40C=) c.572-40C= (n.572-40C=) | |
| 5 | g.1213423C>T | CA3182814 | SLC6A19 | c.664-40C>T (n.664-40C>T) c.572-40C>T (n.572-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213424C>A | CA2578258898 | SLC6A19 | c.664-39C>A (n.664-39C>A) c.572-39C>A (n.572-39C>A) | gnomAD v4 |
| 5 | g.1213424C>G | CA2673072285 | SLC6A19 | c.664-39C>G (n.664-39C>G) c.572-39C>G (n.572-39C>G) | gnomAD v4 |
| 5 | g.1213424C>T | CA2673072286 | SLC6A19 | c.664-39C>T (n.664-39C>T) c.572-39C>T (n.572-39C>T) | gnomAD v4 |
| 5 | g.1213425C>A | CA2578258899 | SLC6A19 | c.664-38C>A (n.664-38C>A) c.572-38C>A (n.572-38C>A) | gnomAD v4 |
| 5 | g.1213425C= | CA1522520156 | SLC6A19 | c.664-38C= (n.664-38C=) c.572-38C= (n.572-38C=) | |
| 5 | g.1213425C>G | CA3182815 | SLC6A19 | c.664-38C>G (n.664-38C>G) c.572-38C>G (n.572-38C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213426A= | CA1522520158 | SLC6A19 | c.664-37A= (n.664-37A=) c.572-37A= (n.572-37A=) | |
| 5 | g.1213426A>C | CA1072493136 | SLC6A19 | c.664-37A>C (n.664-37A>C) c.572-37A>C (n.572-37A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213427A= | CA1522520159 | SLC6A19 | c.664-36A= (n.664-36A=) c.572-36A= (n.572-36A=) |