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.1213230_1213406del | CA2765038657 | SLC6A19 | c.664-233_664-57del (n.664-233_664-57del) c.572-233_572-57del (n.572-233_572-57del) | |
| 5 | g.1213248_1213393del | CA2765038659 | SLC6A19 | c.664-215_664-70del (n.664-215_664-70del) c.572-215_572-70del (n.572-215_572-70del) | |
| 5 | g.1213266_1213395del | CA2590900199 | SLC6A19 | c.664-197_664-68del (n.664-197_664-68del) c.572-197_572-68del (n.572-197_572-68del) | 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.1213318_1213406del | CA2765038682 | SLC6A19 | c.664-145_664-57del (n.664-145_664-57del) c.572-145_572-57del (n.572-145_572-57del) | |
| 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.1213327_1213413del | CA2673072070 | SLC6A19 | c.664-136_664-50del (n.664-136_664-50del) c.572-136_572-50del (n.572-136_572-50del) | gnomAD v4 |
| 5 | g.1213331_1213396del | CA2673072073 | SLC6A19 | c.664-132_664-67del (n.664-132_664-67del) c.572-132_572-67del (n.572-132_572-67del) | gnomAD v4 |
| 5 | g.1213341_1213393del | CA2673072080 | SLC6A19 | c.664-122_664-70del (n.664-122_664-70del) c.572-122_572-70del (n.572-122_572-70del) | gnomAD v4 |
| 5 | g.1213341_1213406del | CA2673072081 | SLC6A19 | c.664-122_664-57del (n.664-122_664-57del) c.572-122_572-57del (n.572-122_572-57del) | 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.1213339_1213406del | CA2673072087 | SLC6A19 | c.664-124_664-57del (n.664-124_664-57del) c.572-124_572-57del (n.572-124_572-57del) | gnomAD v4 |
| 5 | g.1213343_1213410del | CA2673072093 | SLC6A19 | c.664-120_664-53del (n.664-120_664-53del) c.572-120_572-53del (n.572-120_572-53del) | gnomAD v4 |
| 5 | g.1213342_1213407del | CA2673072095 | SLC6A19 | c.664-121_664-56del (n.664-121_664-56del) c.572-121_572-56del (n.572-121_572-56del) | 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_1213394del | CA2673072120 | SLC6A19 | c.664-105_664-69del (n.664-105_664-69del) c.572-105_572-69del (n.572-105_572-69del) | gnomAD v4 |
| 5 | g.1213358_1213407del | CA2673072117 | SLC6A19 | c.664-105_664-56del (n.664-105_664-56del) c.572-105_572-56del (n.572-105_572-56del) | gnomAD v4 |
| 5 | g.1213356_1213406del | CA2673072125 | SLC6A19 | c.664-107_664-57del (n.664-107_664-57del) c.572-107_572-57del (n.572-107_572-57del) | 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.1213358_1213392del | CA2673072141 | SLC6A19 | c.664-105_664-71del (n.664-105_664-71del) c.572-105_572-71del (n.572-105_572-71del) | gnomAD v4 |
| 5 | g.1213359_1213395del | CA2673072148 | SLC6A19 | c.664-104_664-68del (n.664-104_664-68del) c.572-104_572-68del (n.572-104_572-68del) | gnomAD v4 |
| 5 | g.1213366_1213408del | CA2673072153 | SLC6A19 | c.664-97_664-55del (n.664-97_664-55del) c.572-97_572-55del (n.572-97_572-55del) | 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.1213371_1213416del | CA2673072165 | SLC6A19 | c.664-92_664-47del (n.664-92_664-47del) c.572-92_572-47del (n.572-92_572-47del) | gnomAD v4 |
| 5 | g.1213380_1213394dup | CA802930318 | SLC6A19 | c.664-83_664-69dup (n.664-83_664-69dup) c.572-83_572-69dup (n.572-83_572-69dup) | dbSNP |
| 5 | g.1213380_1213394del | CA557557243 | SLC6A19 | c.664-83_664-69del (n.664-83_664-69del) c.572-83_572-69del (n.572-83_572-69del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213369_1213396del | CA2673072172 | SLC6A19 | c.664-94_664-67del (n.664-94_664-67del) c.572-94_572-67del (n.572-94_572-67del) | gnomAD v4 |
| 5 | g.1213368_1213402del | CA2673072171 | SLC6A19 | c.664-95_664-61del (n.664-95_664-61del) c.572-95_572-61del (n.572-95_572-61del) | 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.1213380_1213395delinsTATGCCCCGCCCCCAC | CA1522520063 | SLC6A19 | c.664-83_664-68delinsTATGCCCCGCCCCCAC (n.664-83_664-68delinsTATGCCCCGCCCCCAC) c.572-83_572-68delinsTATGCCCCGCCCCCAC (n.572-83_572-68delinsTATGCCCCGCCCCCAC) | |
| 5 | g.1213381_1213395del | CA802930330 | SLC6A19 | c.664-82_664-68del (n.664-82_664-68del) c.572-82_572-68del (n.572-82_572-68del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213394_1213395insTGTGCCCCGCCCCCA | CA1522520069 | SLC6A19 | c.664-69_664-68insTGTGCCCCGCCCCCA (n.664-69_664-68insTGTGCCCCGCCCCCA) c.572-69_572-68insTGTGCCCCGCCCCCA (n.572-69_572-68insTGTGCCCCGCCCCCA) | dbSNP |
| 5 | g.1213388_1213405dup | CA1072493026 | SLC6A19 | c.664-75_664-58dup (n.664-75_664-58dup) c.572-75_572-58dup (n.572-75_572-58dup) | gnomAD v3 gnomAD v4 |
| 5 | g.1213385_1213398delinsCCCGCCCCCACGTG | CA1522520074 | SLC6A19 | c.664-78_664-65delinsCCCGCCCCCACGTG (n.664-78_664-65delinsCCCGCCCCCACGTG) c.572-78_572-65delinsCCCGCCCCCACGTG (n.572-78_572-65delinsCCCGCCCCCACGTG) | |
| 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.1213396_1213408del | CA557557247 | SLC6A19 | c.664-67_664-55del (n.664-67_664-55del) c.572-67_572-55del (n.572-67_572-55del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213393dup | CA802930345 | SLC6A19 | c.664-70dup (n.664-70dup) c.572-70dup (n.572-70dup) | dbSNP |
| 5 | g.1213392_1213393del | CA2673072246 | SLC6A19 | c.664-71_664-70del (n.664-71_664-70del) c.572-71_572-70del (n.572-71_572-70del) | gnomAD v4 |
| 5 | g.1213392C>A | CA2673072250 | SLC6A19 | c.664-71C>A (n.664-71C>A) c.572-71C>A (n.572-71C>A) | gnomAD v4 |
| 5 | g.1213392C>T | CA2673072251 | SLC6A19 | c.664-71C>T (n.664-71C>T) c.572-71C>T (n.572-71C>T) | gnomAD v4 |
| 5 | g.1213393C>A | CA2673072252 | SLC6A19 | c.664-70C>A (n.664-70C>A) c.572-70C>A (n.572-70C>A) | gnomAD v4 |
| 5 | g.1213393C= | CA1522520093 | SLC6A19 | c.664-70C= (n.664-70C=) c.572-70C= (n.572-70C=) | |
| 5 | g.1213393C>T | CA802930348 | SLC6A19 | c.664-70C>T (n.664-70C>T) c.572-70C>T (n.572-70C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213394A= | CA1522520094 | SLC6A19 | c.664-69A= (n.664-69A=) c.572-69A= (n.572-69A=) | |
| 5 | g.1213394A>C | CA649597528 | SLC6A19 | c.664-69A>C (n.664-69A>C) c.572-69A>C (n.572-69A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213394_1213401del | CA2673072253 | SLC6A19 | c.664-69_664-62del (n.664-69_664-62del) c.572-69_572-62del (n.572-69_572-62del) | gnomAD v4 |
| 5 | g.1213394_1213395insTATG | CA557557252 | SLC6A19 | c.664-69_664-68insTATG (n.664-69_664-68insTATG) c.572-69_572-68insTATG (n.572-69_572-68insTATG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213394_1213395insTGTG | CA1072493058 | SLC6A19 | c.664-69_664-68insTGTG (n.664-69_664-68insTGTG) c.572-69_572-68insTGTG (n.572-69_572-68insTGTG) | gnomAD v3 gnomAD v4 |
| 5 | g.1213395del | CA2673072254 | SLC6A19 | c.664-68del (n.664-68del) c.572-68del (n.572-68del) | gnomAD v4 |
| 5 | g.1213395C>A | CA2578258886 | SLC6A19 | c.664-68C>A (n.664-68C>A) c.572-68C>A (n.572-68C>A) | gnomAD v4 |
| 5 | g.1213395C= | CA1522520098 | SLC6A19 | c.664-68C= (n.664-68C=) c.572-68C= (n.572-68C=) | |
| 5 | g.1213395C>G | CA1072493054 | SLC6A19 | c.664-68C>G (n.664-68C>G) c.572-68C>G (n.572-68C>G) | gnomAD v3 gnomAD v4 |
| 5 | g.1213395C>T | CA112941331 | SLC6A19 | c.664-68C>T (n.664-68C>T) c.572-68C>T (n.572-68C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213395_1213396insCCCGCCCCCAT | CA1072493063 | SLC6A19 | c.664-68_664-67insCCCGCCCCCAT (n.664-68_664-67insCCCGCCCCCAT) c.572-68_572-67insCCCGCCCCCAT (n.572-68_572-67insCCCGCCCCCAT) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213396G>A | CA557557253 | SLC6A19 | c.664-67G>A (n.664-67G>A) c.572-67G>A (n.572-67G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213396G>C | CA2578258888 | SLC6A19 | c.664-67G>C (n.664-67G>C) c.572-67G>C (n.572-67G>C) | gnomAD v4 |
| 5 | g.1213396G= | CA1522520100 | SLC6A19 | c.664-67G= (n.664-67G=) c.572-67G= (n.572-67G=) | |
| 5 | g.1213396G>T | CA2673072255 | SLC6A19 | c.664-67G>T (n.664-67G>T) c.572-67G>T (n.572-67G>T) | gnomAD v4 |
| 5 | g.1213396_1213398del | CA2673072256 | SLC6A19 | c.664-67_664-65del (n.664-67_664-65del) c.572-67_572-65del (n.572-67_572-65del) | gnomAD v4 |
| 5 | g.1213397del | CA2673072257 | SLC6A19 | c.664-66del (n.664-66del) c.572-66del (n.572-66del) | gnomAD v4 |
| 5 | g.1213397T>A | CA802930355 | SLC6A19 | c.664-66T>A (n.664-66T>A) c.572-66T>A (n.572-66T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213397T>G | CA2673072258 | SLC6A19 | c.664-66T>G (n.664-66T>G) c.572-66T>G (n.572-66T>G) | gnomAD v4 |
| 5 | g.1213397T= | CA1522520102 | SLC6A19 | c.664-66T= (n.664-66T=) c.572-66T= (n.572-66T=) | |
| 5 | g.1213398G>A | CA2673072260 | SLC6A19 | c.664-65G>A (n.664-65G>A) c.572-65G>A (n.572-65G>A) | dbSNP gnomAD v4 |
| 5 | g.1213398G>C | CA2673072261 | SLC6A19 | c.664-65G>C (n.664-65G>C) c.572-65G>C (n.572-65G>C) | gnomAD v4 |
| 5 | g.1213398G>T | CA2673072262 | SLC6A19 | c.664-65G>T (n.664-65G>T) c.572-65G>T (n.572-65G>T) | gnomAD v4 |
| 5 | g.1213398dup | CA2673072259 | SLC6A19 | c.664-65dup (n.664-65dup) c.572-65dup (n.572-65dup) | gnomAD v4 |
| 5 | g.1213399C>G | CA2673072265 | SLC6A19 | c.664-64C>G (n.664-64C>G) c.572-64C>G (n.572-64C>G) | gnomAD v4 |
| 5 | g.1213399C>T | CA2673072264 | SLC6A19 | c.664-64C>T (n.664-64C>T) c.572-64C>T (n.572-64C>T) | 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.1213400C>A | CA1522520105 | SLC6A19 | c.664-63C>A (n.664-63C>A) c.572-63C>A (n.572-63C>A) | dbSNP gnomAD v4 |
| 5 | g.1213400C= | CA1522520104 | SLC6A19 | c.664-63C= (n.664-63C=) c.572-63C= (n.572-63C=) | |
| 5 | g.1213400C>T | CA802930358 | SLC6A19 | c.664-63C>T (n.664-63C>T) c.572-63C>T (n.572-63C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213401G>A | CA112941334 | SLC6A19 | c.664-62G>A (n.664-62G>A) c.572-62G>A (n.572-62G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213401G>C | CA2578258889 | SLC6A19 | c.664-62G>C (n.664-62G>C) c.572-62G>C (n.572-62G>C) | gnomAD v4 |
| 5 | g.1213401G= | CA1522520109 | SLC6A19 | c.664-62G= (n.664-62G=) c.572-62G= (n.572-62G=) | |
| 5 | g.1213401G>T | CA2673072266 | SLC6A19 | c.664-62G>T (n.664-62G>T) c.572-62G>T (n.572-62G>T) | gnomAD v4 |
| 5 | g.1213401_1213402delinsGC | CA1522520110 | SLC6A19 | c.664-62_664-61delinsGC (n.664-62_664-61delinsGC) c.572-62_572-61delinsGC (n.572-62_572-61delinsGC) | |
| 5 | g.1213402C>A | CA2673072267 | SLC6A19 | c.664-61C>A (n.664-61C>A) c.572-61C>A (n.572-61C>A) | gnomAD v4 |
| 5 | g.1213402C= | CA1522520114 | SLC6A19 | c.664-61C= (n.664-61C=) c.572-61C= (n.572-61C=) | |
| 5 | g.1213402C>T | CA112941336 | SLC6A19 | c.664-61C>T (n.664-61C>T) c.572-61C>T (n.572-61C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213406dup | CA1072493082 | SLC6A19 | c.664-57dup (n.664-57dup) c.572-57dup (n.572-57dup) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213406del | CA1522520117 | SLC6A19 | c.664-57del (n.664-57del) c.572-57del (n.572-57del) | dbSNP |
| 5 | g.1213408_1213409insGTGCCCCCCCCAC | CA1522520116 | SLC6A19 | c.664-55_664-54insGTGCCCCCCCCAC (n.664-55_664-54insGTGCCCCCCCCAC) c.572-55_572-54insGTGCCCCCCCCAC (n.572-55_572-54insGTGCCCCCCCCAC) | dbSNP gnomAD v4 |
| 5 | g.1213403C>A | CA802930366 | SLC6A19 | c.664-60C>A (n.664-60C>A) c.572-60C>A (n.572-60C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213403C= | CA1522520120 | SLC6A19 | c.664-60C= (n.664-60C=) c.572-60C= (n.572-60C=) | |
| 5 | g.1213403C>G | CA1522520122 | SLC6A19 | c.664-60C>G (n.664-60C>G) c.572-60C>G (n.572-60C>G) | dbSNP |
| 5 | g.1213403C>T | CA802930365 | SLC6A19 | c.664-60C>T (n.664-60C>T) c.572-60C>T (n.572-60C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213404C>A | CA1072493087 | SLC6A19 | c.664-59C>A (n.664-59C>A) c.572-59C>A (n.572-59C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213404C= | CA1522520125 | SLC6A19 | c.664-59C= (n.664-59C=) c.572-59C= (n.572-59C=) | |
| 5 | g.1213404C>T | CA2673072268 | SLC6A19 | c.664-59C>T (n.664-59C>T) c.572-59C>T (n.572-59C>T) | gnomAD v4 |
| 5 | g.1213405C>A | CA2673072269 | SLC6A19 | c.664-58C>A (n.664-58C>A) c.572-58C>A (n.572-58C>A) | gnomAD v4 |
| 5 | g.1213405C>G | CA2673072270 | SLC6A19 | c.664-58C>G (n.664-58C>G) c.572-58C>G (n.572-58C>G) | gnomAD v4 |
| 5 | g.1213406C>A | CA2578258890 | SLC6A19 | c.664-57C>A (n.664-57C>A) c.572-57C>A (n.572-57C>A) | gnomAD v4 |
| 5 | g.1213406C= | CA1522520127 | SLC6A19 | c.664-57C= (n.664-57C=) c.572-57C= (n.572-57C=) | |
| 5 | g.1213406C>G | CA802930369 | SLC6A19 | c.664-57C>G (n.664-57C>G) c.572-57C>G (n.572-57C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213406C>T | CA112941341 | SLC6A19 | c.664-57C>T (n.664-57C>T) c.572-57C>T (n.572-57C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213407_1213408del | CA2673072271 | SLC6A19 | c.664-56_664-55del (n.664-56_664-55del) c.572-56_572-55del (n.572-56_572-55del) | gnomAD v4 |
| 5 | g.1213407A= | CA1522520131 | SLC6A19 | c.664-56A= (n.664-56A=) c.572-56A= (n.572-56A=) | |
| 5 | g.1213407A>C | CA1072493093 | SLC6A19 | c.664-56A>C (n.664-56A>C) c.572-56A>C (n.572-56A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213407A>T | CA1072493095 | SLC6A19 | c.664-56A>T (n.664-56A>T) c.572-56A>T (n.572-56A>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213408C>A | CA2673072272 | SLC6A19 | c.664-55C>A (n.664-55C>A) c.572-55C>A (n.572-55C>A) | gnomAD v4 |
| 5 | g.1213408C>T | CA2673072273 | SLC6A19 | c.664-55C>T (n.664-55C>T) c.572-55C>T (n.572-55C>T) | gnomAD v4 |
| 5 | g.1213409C>A | CA2673072274 | SLC6A19 | c.664-54C>A (n.664-54C>A) c.572-54C>A (n.572-54C>A) | gnomAD v4 |
| 5 | g.1213409C= | CA1522520133 | SLC6A19 | c.664-54C= (n.664-54C=) c.572-54C= (n.572-54C=) | |
| 5 | g.1213409C>G | CA802930371 | SLC6A19 | c.664-54C>G (n.664-54C>G) c.572-54C>G (n.572-54C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213409C>T | CA112941345 | SLC6A19 | c.664-54C>T (n.664-54C>T) c.572-54C>T (n.572-54C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213410G>A | CA802930373 | SLC6A19 | c.664-53G>A (n.664-53G>A) c.572-53G>A (n.572-53G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213410G>C | CA1072493118 | SLC6A19 | c.664-53G>C (n.664-53G>C) c.572-53G>C (n.572-53G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213410G= | CA1522520135 | SLC6A19 | c.664-53G= (n.664-53G=) c.572-53G= (n.572-53G=) | |
| 5 | g.1213410G>T | CA1522520136 | SLC6A19 | c.664-53G>T (n.664-53G>T) c.572-53G>T (n.572-53G>T) | dbSNP gnomAD v4 |
| 5 | g.1213411C>A | CA2578258891 | SLC6A19 | c.664-52C>A (n.664-52C>A) c.572-52C>A (n.572-52C>A) | gnomAD v4 |
| 5 | g.1213411C>T | CA2673072275 | SLC6A19 | c.664-52C>T (n.664-52C>T) c.572-52C>T (n.572-52C>T) | gnomAD v4 |
| 5 | g.1213411_1213412delinsCA | CA1522520138 | SLC6A19 | c.664-52_664-51delinsCA (n.664-52_664-51delinsCA) c.572-52_572-51delinsCA (n.572-52_572-51delinsCA) | |
| 5 | g.1213412del | CA802930375 | SLC6A19 | c.664-51del (n.664-51del) c.572-51del (n.572-51del) | dbSNP gnomAD v4 |
| 5 | g.1213412A= | CA1522520139 | SLC6A19 | c.664-51A= (n.664-51A=) c.572-51A= (n.572-51A=) | |
| 5 | g.1213412A>C | CA2581464420 | SLC6A19 | c.664-51A>C (n.664-51A>C) c.572-51A>C (n.572-51A>C) | gnomAD v4 |
| 5 | g.1213412A>G | CA3182811 | SLC6A19 | c.664-51A>G (n.664-51A>G) c.572-51A>G (n.572-51A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213412A>T | CA2581464419 | SLC6A19 | c.664-51A>T (n.664-51A>T) c.572-51A>T (n.572-51A>T) | |
| 5 | g.1213413T>A | CA2578258892 | SLC6A19 | c.664-50T>A (n.664-50T>A) c.572-50T>A (n.572-50T>A) | gnomAD v4 |
| 5 | g.1213413T>C | CA1072493123 | SLC6A19 | c.664-50T>C (n.664-50T>C) c.572-50T>C (n.572-50T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213413T>G | CA1072493124 | SLC6A19 | c.664-50T>G (n.664-50T>G) c.572-50T>G (n.572-50T>G) | gnomAD v3 gnomAD v4 |
| 5 | g.1213413T= | CA1522520141 | SLC6A19 | c.664-50T= (n.664-50T=) c.572-50T= (n.572-50T=) | |
| 5 | g.1213414G>T | CA2528675779 | SLC6A19 | c.664-49G>T (n.664-49G>T) c.572-49G>T (n.572-49G>T) | gnomAD v4 |
| 5 | g.1213415C>A | CA2578258893 | SLC6A19 | c.664-48C>A (n.664-48C>A) c.572-48C>A (n.572-48C>A) | gnomAD v4 |
| 5 | g.1213415C>T | CA2673072276 | SLC6A19 | c.664-48C>T (n.664-48C>T) c.572-48C>T (n.572-48C>T) | gnomAD v4 |
| 5 | g.1213416C>A | CA2578258894 | SLC6A19 | c.664-47C>A (n.664-47C>A) c.572-47C>A (n.572-47C>A) | gnomAD v4 |
| 5 | g.1213416C>T | CA2673072277 | SLC6A19 | c.664-47C>T (n.664-47C>T) c.572-47C>T (n.572-47C>T) | 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=) | |
| 5 | g.1213427A>C | CA1072493139 | SLC6A19 | c.664-36A>C (n.664-36A>C) c.572-36A>C (n.572-36A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213427A>G | CA557557262 | SLC6A19 | c.664-36A>G (n.664-36A>G) c.572-36A>G (n.572-36A>G) | dbSNP gnomAD v2 gnomAD v3 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 |