| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1212995_1213171del | CA1072491901 | SLC6A19 | c.664-468_664-292del (n.664-468_664-292del) c.572-468_572-292del (n.572-468_572-292del) | gnomAD v3 gnomAD v4 |
| 5 | g.1212983_1213157del | CA1072491941 | SLC6A19 | c.664-480_664-306del (n.664-480_664-306del) c.572-480_572-306del (n.572-480_572-306del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213033_1213208del | CA1072492061 | SLC6A19 | c.664-430_664-255del (n.664-430_664-255del) c.572-430_572-255del (n.572-430_572-255del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213036_1213273del | CA2524775308 | SLC6A19 | c.664-427_664-190del (n.664-427_664-190del) c.572-427_572-190del (n.572-427_572-190del) | |
| 5 | g.1213073_1213310del | CA2765038630 | SLC6A19 | c.664-390_664-153del (n.664-390_664-153del) c.572-390_572-153del (n.572-390_572-153del) | |
| 5 | g.1213092_1213174del | CA1072492163 | SLC6A19 | c.664-371_664-289del (n.664-371_664-289del) c.572-371_572-289del (n.572-371_572-289del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213094_1213284del | CA2535920244 | SLC6A19 | c.664-369_664-179del (n.664-369_664-179del) c.572-369_572-179del (n.572-369_572-179del) | |
| 5 | g.1213098_1213180del | CA1072492217 | SLC6A19 | c.664-365_664-283del (n.664-365_664-283del) c.572-365_572-283del (n.572-365_572-283del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213141_1213341delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC | CA1522519665 | SLC6A19 | c.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC (n.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC) c.572-322_572-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC (n.572-322_572-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC) | |
| 5 | g.1213142G>T | CA1072492290 | SLC6A19 | c.664-321G>T (n.664-321G>T) c.572-321G>T (n.572-321G>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213157_1213356del | CA1072492286 | SLC6A19 | c.664-306_664-107del (n.664-306_664-107del) c.572-306_572-107del (n.572-306_572-107del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213143T>C | CA802930171 | SLC6A19 | c.664-320T>C (n.664-320T>C) c.572-320T>C (n.572-320T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213143T>G | CA2765038638 | SLC6A19 | c.664-320T>G (n.664-320T>G) c.572-320T>G (n.572-320T>G) | |
| 5 | g.1213143T= | CA1522519670 | SLC6A19 | c.664-320T= (n.664-320T=) c.572-320T= (n.572-320T=) | |
| 5 | g.1213158_1213201del | CA557557212 | SLC6A19 | c.664-305_664-262del (n.664-305_664-262del) c.572-305_572-262del (n.572-305_572-262del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213157_1213311del | CA1072492297 | SLC6A19 | c.664-306_664-152del (n.664-306_664-152del) c.572-306_572-152del (n.572-306_572-152del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213146G>A | CA802930172 | SLC6A19 | c.664-317G>A (n.664-317G>A) c.572-317G>A (n.572-317G>A) | dbSNP |
| 5 | g.1213146G= | CA1522519672 | SLC6A19 | c.664-317G= (n.664-317G=) c.572-317G= (n.572-317G=) | |
| 5 | g.1213147C>A | CA1522519675 | SLC6A19 | c.664-316C>A (n.664-316C>A) c.572-316C>A (n.572-316C>A) | dbSNP |
| 5 | g.1213147C= | CA1522519674 | SLC6A19 | c.664-316C= (n.664-316C=) c.572-316C= (n.572-316C=) | |
| 5 | g.1213149T>A | CA2590900182 | SLC6A19 | c.664-314T>A (n.664-314T>A) c.572-314T>A (n.572-314T>A) | gnomAD v3 gnomAD v4 |
| 5 | g.1213149T>C | CA1072492298 | SLC6A19 | c.664-314T>C (n.664-314T>C) c.572-314T>C (n.572-314T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213149T= | CA1522519677 | SLC6A19 | c.664-314T= (n.664-314T=) c.572-314T= (n.572-314T=) | |
| 5 | g.1213150G>A | CA1522519680 | SLC6A19 | c.664-313G>A (n.664-313G>A) c.572-313G>A (n.572-313G>A) | dbSNP |
| 5 | g.1213150G= | CA1522519679 | SLC6A19 | c.664-313G= (n.664-313G=) c.572-313G= (n.572-313G=) | |
| 5 | g.1213151G= | CA1522519681 | SLC6A19 | c.664-312G= (n.664-312G=) c.572-312G= (n.572-312G=) | |
| 5 | g.1213152C>A | CA802930173 | SLC6A19 | c.664-311C>A (n.664-311C>A) c.572-311C>A (n.572-311C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213152C= | CA1522519683 | SLC6A19 | c.664-311C= (n.664-311C=) c.572-311C= (n.572-311C=) | |
| 5 | g.1213152C>T | CA557557213 | SLC6A19 | c.664-311C>T (n.664-311C>T) c.572-311C>T (n.572-311C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213157dup | CA802930174 | SLC6A19 | c.664-306dup (n.664-306dup) c.572-306dup (n.572-306dup) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213153C>A | CA802930178 | SLC6A19 | c.664-310C>A (n.664-310C>A) c.572-310C>A (n.572-310C>A) | dbSNP |
| 5 | g.1213153C= | CA1522519686 | SLC6A19 | c.664-310C= (n.664-310C=) c.572-310C= (n.572-310C=) | |
| 5 | g.1213153C>G | CA802930177 | SLC6A19 | c.664-310C>G (n.664-310C>G) c.572-310C>G (n.572-310C>G) | dbSNP |
| 5 | g.1213153C>T | CA1072492304 | SLC6A19 | c.664-310C>T (n.664-310C>T) c.572-310C>T (n.572-310C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213161_1213314del | CA2590900183 | SLC6A19 | c.664-302_664-149del (n.664-302_664-149del) c.572-302_572-149del (n.572-302_572-149del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213155C= | CA1522519688 | SLC6A19 | c.664-308C= (n.664-308C=) c.572-308C= (n.572-308C=) | |
| 5 | g.1213155C>G | CA112941270 | SLC6A19 | c.664-308C>G (n.664-308C>G) c.572-308C>G (n.572-308C>G) | dbSNP |
| 5 | g.1213156C>A | CA557557214 | SLC6A19 | c.664-307C>A (n.664-307C>A) c.572-307C>A (n.572-307C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213156C= | CA1522519690 | SLC6A19 | c.664-307C= (n.664-307C=) c.572-307C= (n.572-307C=) | |
| 5 | g.1213156C>G | CA557557215 | SLC6A19 | c.664-307C>G (n.664-307C>G) c.572-307C>G (n.572-307C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213157C>A | CA1072492310 | SLC6A19 | c.664-306C>A (n.664-306C>A) c.572-306C>A (n.572-306C>A) | gnomAD v3 gnomAD v4 |
| 5 | g.1213157C= | CA1522519694 | SLC6A19 | c.664-306C= (n.664-306C=) c.572-306C= (n.572-306C=) | |
| 5 | g.1213157C>T | CA1072492313 | SLC6A19 | c.664-306C>T (n.664-306C>T) c.572-306C>T (n.572-306C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213158del | CA2765038639 | SLC6A19 | c.664-305del (n.664-305del) c.572-305del (n.572-305del) | |
| 5 | g.1213158T>C | CA1072492317 | SLC6A19 | c.664-305T>C (n.664-305T>C) c.572-305T>C (n.572-305T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213158T>G | CA1522519697 | SLC6A19 | c.664-305T>G (n.664-305T>G) c.572-305T>G (n.572-305T>G) | dbSNP |
| 5 | g.1213158T= | CA1522519698 | SLC6A19 | c.664-305T= (n.664-305T=) c.572-305T= (n.572-305T=) | |
| 5 | g.1213161_1213267del | CA2765038640 | SLC6A19 | c.664-302_664-196del (n.664-302_664-196del) c.572-302_572-196del (n.572-302_572-196del) | |
| 5 | g.1213159C= | CA1522519699 | SLC6A19 | c.664-304C= (n.664-304C=) c.572-304C= (n.572-304C=) | |
| 5 | g.1213159C>G | CA1072492322 | SLC6A19 | c.664-304C>G (n.664-304C>G) c.572-304C>G (n.572-304C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213160C= | CA1522519701 | SLC6A19 | c.664-303C= (n.664-303C=) c.572-303C= (n.572-303C=) | |
| 5 | g.1213160C>G | CA1522519702 | SLC6A19 | c.664-303C>G (n.664-303C>G) c.572-303C>G (n.572-303C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213160C>T | CA557557216 | SLC6A19 | c.664-303C>T (n.664-303C>T) c.572-303C>T (n.572-303C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213161G>A | CA557557218 | SLC6A19 | c.664-302G>A (n.664-302G>A) c.572-302G>A (n.572-302G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213161G>C | CA1072492325 | SLC6A19 | c.664-302G>C (n.664-302G>C) c.572-302G>C (n.572-302G>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213161G= | CA1522519705 | SLC6A19 | c.664-302G= (n.664-302G=) c.572-302G= (n.572-302G=) | |
| 5 | g.1213162C>T | CA1072492327 | SLC6A19 | c.664-301C>T (n.664-301C>T) c.572-301C>T (n.572-301C>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213163del | CA2765038641 | SLC6A19 | c.664-300del (n.664-300del) c.572-300del (n.572-300del) | |
| 5 | g.1213163A= | CA1522519708 | SLC6A19 | c.664-300A= (n.664-300A=) c.572-300A= (n.572-300A=) | |
| 5 | g.1213163A>C | CA112941274 | SLC6A19 | c.664-300A>C (n.664-300A>C) c.572-300A>C (n.572-300A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213164C>A | CA802930189 | SLC6A19 | c.664-299C>A (n.664-299C>A) c.572-299C>A (n.572-299C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213164C= | CA1522519712 | SLC6A19 | c.664-299C= (n.664-299C=) c.572-299C= (n.572-299C=) | |
| 5 | g.1213164C>T | CA802930190 | SLC6A19 | c.664-299C>T (n.664-299C>T) c.572-299C>T (n.572-299C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213166A>C | CA1072492333 | SLC6A19 | c.664-297A>C (n.664-297A>C) c.572-297A>C (n.572-297A>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213167_1213168insTC | CA2765038642 | SLC6A19 | c.664-296_664-295insTC (n.664-296_664-295insTC) c.572-296_572-295insTC (n.572-296_572-295insTC) | |
| 5 | g.1213172C>A | CA1072492342 | SLC6A19 | c.664-291C>A (n.664-291C>A) c.572-291C>A (n.572-291C>A) | gnomAD v3 gnomAD v4 |
| 5 | g.1213173A= | CA1522519715 | SLC6A19 | c.664-290A= (n.664-290A=) c.572-290A= (n.572-290A=) | |
| 5 | g.1213173A>C | CA1072492350 | SLC6A19 | c.664-290A>C (n.664-290A>C) c.572-290A>C (n.572-290A>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213173A>G | CA1522519716 | SLC6A19 | c.664-290A>G (n.664-290A>G) c.572-290A>G (n.572-290A>G) | dbSNP |
| 5 | g.1213174T>G | CA2765038643 | SLC6A19 | c.664-289T>G (n.664-289T>G) c.572-289T>G (n.572-289T>G) | |
| 5 | g.1213175A= | CA1522519718 | SLC6A19 | c.664-288A= (n.664-288A=) c.572-288A= (n.572-288A=) | |
| 5 | g.1213175A>C | CA1072492351 | SLC6A19 | c.664-288A>C (n.664-288A>C) c.572-288A>C (n.572-288A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213175A>G | CA2765038644 | SLC6A19 | c.664-288A>G (n.664-288A>G) c.572-288A>G (n.572-288A>G) | |
| 5 | g.1213176C= | CA1522519719 | SLC6A19 | c.664-287C= (n.664-287C=) c.572-287C= (n.572-287C=) | |
| 5 | g.1213176C>G | CA802930193 | SLC6A19 | c.664-287C>G (n.664-287C>G) c.572-287C>G (n.572-287C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213176C>T | CA802930191 | SLC6A19 | c.664-287C>T (n.664-287C>T) c.572-287C>T (n.572-287C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213178C>A | CA802930194 | SLC6A19 | c.664-285C>A (n.664-285C>A) c.572-285C>A (n.572-285C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213178C= | CA1522519720 | SLC6A19 | c.664-285C= (n.664-285C=) c.572-285C= (n.572-285C=) | |
| 5 | g.1213178C>G | CA1072492355 | SLC6A19 | c.664-285C>G (n.664-285C>G) c.572-285C>G (n.572-285C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213178C>T | CA1522519721 | SLC6A19 | c.664-285C>T (n.664-285C>T) c.572-285C>T (n.572-285C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213179G>A | CA112941277 | SLC6A19 | c.664-284G>A (n.664-284G>A) c.572-284G>A (n.572-284G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213179G>C | CA802930195 | SLC6A19 | c.664-284G>C (n.664-284G>C) c.572-284G>C (n.572-284G>C) | dbSNP |
| 5 | g.1213179G= | CA1522519723 | SLC6A19 | c.664-284G= (n.664-284G=) c.572-284G= (n.572-284G=) | |
| 5 | g.1213180G>C | CA802930197 | SLC6A19 | c.664-283G>C (n.664-283G>C) c.572-283G>C (n.572-283G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213180G= | CA1522519726 | SLC6A19 | c.664-283G= (n.664-283G=) c.572-283G= (n.572-283G=) | |
| 5 | g.1213181A= | CA1522519727 | SLC6A19 | c.664-282A= (n.664-282A=) c.572-282A= (n.572-282A=) | |
| 5 | g.1213181A>C | CA802930199 | SLC6A19 | c.664-282A>C (n.664-282A>C) c.572-282A>C (n.572-282A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213182C>A | CA802930200 | SLC6A19 | c.664-281C>A (n.664-281C>A) c.572-281C>A (n.572-281C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213182C= | CA1522519728 | SLC6A19 | c.664-281C= (n.664-281C=) c.572-281C= (n.572-281C=) | |
| 5 | g.1213183T>C | CA802930202 | SLC6A19 | c.664-280T>C (n.664-280T>C) c.572-280T>C (n.572-280T>C) | dbSNP |
| 5 | g.1213183T= | CA1522519730 | SLC6A19 | c.664-280T= (n.664-280T=) c.572-280T= (n.572-280T=) | |
| 5 | g.1213184C>T | CA2765038645 | SLC6A19 | c.664-279C>T (n.664-279C>T) c.572-279C>T (n.572-279C>T) | |
| 5 | g.1213186A>G | CA1072492366 | SLC6A19 | c.664-277A>G (n.664-277A>G) c.572-277A>G (n.572-277A>G) | gnomAD v3 gnomAD v4 |
| 5 | g.1213186A>T | CA1072492367 | SLC6A19 | c.664-277A>T (n.664-277A>T) c.572-277A>T (n.572-277A>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213201_1213311del | CA1072492363 | SLC6A19 | c.664-262_664-152del (n.664-262_664-152del) c.572-262_572-152del (n.572-262_572-152del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213188A= | CA1522519732 | SLC6A19 | c.664-275A= (n.664-275A=) c.572-275A= (n.572-275A=) | |
| 5 | g.1213188A>C | CA1072492368 | SLC6A19 | c.664-275A>C (n.664-275A>C) c.572-275A>C (n.572-275A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213189G= | CA1522519733 | SLC6A19 | c.664-274G= (n.664-274G=) c.572-274G= (n.572-274G=) | |
| 5 | g.1213189G>T | CA1072492369 | SLC6A19 | c.664-274G>T (n.664-274G>T) c.572-274G>T (n.572-274G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213190G= | CA1522519735 | SLC6A19 | c.664-273G= (n.664-273G=) c.572-273G= (n.572-273G=) | |
| 5 | g.1213190G>T | CA1072492370 | SLC6A19 | c.664-273G>T (n.664-273G>T) c.572-273G>T (n.572-273G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213193T>C | CA1522519736 | SLC6A19 | c.664-270T>C (n.664-270T>C) c.572-270T>C (n.572-270T>C) | dbSNP |
| 5 | g.1213193T= | CA1522519737 | SLC6A19 | c.664-270T= (n.664-270T=) c.572-270T= (n.572-270T=) | |
| 5 | g.1213194G>A | CA2765038646 | SLC6A19 | c.664-269G>A (n.664-269G>A) c.572-269G>A (n.572-269G>A) | |
| 5 | g.1213195_1213196delinsGC | CA1522519739 | SLC6A19 | c.664-268_664-267delinsGC (n.664-268_664-267delinsGC) c.572-268_572-267delinsGC (n.572-268_572-267delinsGC) | |
| 5 | g.1213196C>A | CA802930206 | SLC6A19 | c.664-267C>A (n.664-267C>A) c.572-267C>A (n.572-267C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213196C= | CA1522519741 | SLC6A19 | c.664-267C= (n.664-267C=) c.572-267C= (n.572-267C=) | |
| 5 | g.1213196C>T | CA557557219 | SLC6A19 | c.664-267C>T (n.664-267C>T) c.572-267C>T (n.572-267C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213201del | CA802930208 | SLC6A19 | c.664-262del (n.664-262del) c.572-262del (n.572-262del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213200_1213311del | CA1072492372 | SLC6A19 | c.664-263_664-152del (n.664-263_664-152del) c.572-263_572-152del (n.572-263_572-152del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213197C= | CA1522519744 | SLC6A19 | c.664-266C= (n.664-266C=) c.572-266C= (n.572-266C=) | |
| 5 | g.1213197C>T | CA802930212 | SLC6A19 | c.664-266C>T (n.664-266C>T) c.572-266C>T (n.572-266C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213209_1213270del | CA2765038647 | SLC6A19 | c.664-254_664-193del (n.664-254_664-193del) c.572-254_572-193del (n.572-254_572-193del) | |
| 5 | g.1213199C= | CA1522519745 | SLC6A19 | c.664-264C= (n.664-264C=) c.572-264C= (n.572-264C=) | |
| 5 | g.1213199C>T | CA1072492376 | SLC6A19 | c.664-264C>T (n.664-264C>T) c.572-264C>T (n.572-264C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213200C>A | CA1072492377 | SLC6A19 | c.664-263C>A (n.664-263C>A) c.572-263C>A (n.572-263C>A) | gnomAD v3 gnomAD v4 |
| 5 | g.1213200C= | CA1522519748 | SLC6A19 | c.664-263C= (n.664-263C=) c.572-263C= (n.572-263C=) | |
| 5 | g.1213200C>G | CA1072492378 | SLC6A19 | c.664-263C>G (n.664-263C>G) c.572-263C>G (n.572-263C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213201C>A | CA2765038648 | SLC6A19 | c.664-262C>A (n.664-262C>A) c.572-262C>A (n.572-262C>A) | |
| 5 | g.1213201C= | CA1522519749 | SLC6A19 | c.664-262C= (n.664-262C=) c.572-262C= (n.572-262C=) | |
| 5 | g.1213201C>G | CA557557220 | SLC6A19 | c.664-262C>G (n.664-262C>G) c.572-262C>G (n.572-262C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213201C>T | CA1072492379 | SLC6A19 | c.664-262C>T (n.664-262C>T) c.572-262C>T (n.572-262C>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213202A= | CA1522519751 | SLC6A19 | c.664-261A= (n.664-261A=) c.572-261A= (n.572-261A=) | |
| 5 | g.1213202A>C | CA112941281 | SLC6A19 | c.664-261A>C (n.664-261A>C) c.572-261A>C (n.572-261A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213202A>T | CA802930214 | SLC6A19 | c.664-261A>T (n.664-261A>T) c.572-261A>T (n.572-261A>T) | dbSNP |
| 5 | g.1213202_1213203insACT | CA1072492383 | SLC6A19 | c.664-261_664-260insACT (n.664-261_664-260insACT) c.572-261_572-260insACT (n.572-261_572-260insACT) | gnomAD v3 gnomAD v4 |
| 5 | g.1213203T>G | CA1072492387 | SLC6A19 | c.664-260T>G (n.664-260T>G) c.572-260T>G (n.572-260T>G) | gnomAD v3 gnomAD v4 |
| 5 | g.1213206C= | CA1522519754 | SLC6A19 | c.664-257C= (n.664-257C=) c.572-257C= (n.572-257C=) | |
| 5 | g.1213206C>T | CA802930216 | SLC6A19 | c.664-257C>T (n.664-257C>T) c.572-257C>T (n.572-257C>T) | dbSNP |
| 5 | g.1213206_1213207insG | CA1072492392 | SLC6A19 | c.664-257_664-256insG (n.664-257_664-256insG) c.572-257_572-256insG (n.572-257_572-256insG) | gnomAD v3 gnomAD v4 |
| 5 | g.1213207C>A | CA1522519759 | SLC6A19 | c.664-256C>A (n.664-256C>A) c.572-256C>A (n.572-256C>A) | dbSNP |
| 5 | g.1213207C= | CA1522519758 | SLC6A19 | c.664-256C= (n.664-256C=) c.572-256C= (n.572-256C=) | |
| 5 | g.1213208A= | CA1522519760 | SLC6A19 | c.664-255A= (n.664-255A=) c.572-255A= (n.572-255A=) | |
| 5 | g.1213208A>C | CA1072492402 | SLC6A19 | c.664-255A>C (n.664-255A>C) c.572-255A>C (n.572-255A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213208_1213209del | CA1072492401 | SLC6A19 | c.664-255_664-254del (n.664-255_664-254del) c.572-255_572-254del (n.572-255_572-254del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213209T>C | CA1072492405 | SLC6A19 | c.664-254T>C (n.664-254T>C) c.572-254T>C (n.572-254T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213209T>G | CA1072492407 | SLC6A19 | c.664-254T>G (n.664-254T>G) c.572-254T>G (n.572-254T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213209T= | CA1522519761 | SLC6A19 | c.664-254T= (n.664-254T=) c.572-254T= (n.572-254T=) | |
| 5 | g.1213210C= | CA1522519763 | SLC6A19 | c.664-253C= (n.664-253C=) c.572-253C= (n.572-253C=) | |
| 5 | g.1213210C>T | CA557557221 | SLC6A19 | c.664-253C>T (n.664-253C>T) c.572-253C>T (n.572-253C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213212_1213320del | CA2765038649 | SLC6A19 | c.664-251_664-143del (n.664-251_664-143del) c.572-251_572-143del (n.572-251_572-143del) | |
| 5 | g.1213211C>T | CA2765038650 | SLC6A19 | c.664-252C>T (n.664-252C>T) c.572-252C>T (n.572-252C>T) | |
| 5 | g.1213212A= | CA1522519765 | SLC6A19 | c.664-251A= (n.664-251A=) c.572-251A= (n.572-251A=) | |
| 5 | g.1213212A>C | CA1072492414 | SLC6A19 | c.664-251A>C (n.664-251A>C) c.572-251A>C (n.572-251A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213213T>C | CA1072492417 | SLC6A19 | c.664-250T>C (n.664-250T>C) c.572-250T>C (n.572-250T>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213213T>G | CA1072492419 | SLC6A19 | c.664-250T>G (n.664-250T>G) c.572-250T>G (n.572-250T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213213T= | CA1522519768 | SLC6A19 | c.664-250T= (n.664-250T=) c.572-250T= (n.572-250T=) | |
| 5 | g.1213213_1213220del | CA2765038651 | SLC6A19 | c.664-250_664-243del (n.664-250_664-243del) c.572-250_572-243del (n.572-250_572-243del) | |
| 5 | g.1213214T>C | CA1072492424 | SLC6A19 | c.664-249T>C (n.664-249T>C) c.572-249T>C (n.572-249T>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213215C= | CA1522519771 | SLC6A19 | c.664-248C= (n.664-248C=) c.572-248C= (n.572-248C=) | |
| 5 | g.1213215C>G | CA1522519772 | SLC6A19 | c.664-248C>G (n.664-248C>G) c.572-248C>G (n.572-248C>G) | dbSNP |
| 5 | g.1213223_1213284del | CA2830871522 | SLC6A19 | c.664-240_664-179del (n.664-240_664-179del) c.572-240_572-179del (n.572-240_572-179del) | |
| 5 | g.1213216C= | CA1522519775 | SLC6A19 | c.664-247C= (n.664-247C=) c.572-247C= (n.572-247C=) | |
| 5 | g.1213216C>T | CA1522519773 | SLC6A19 | c.664-247C>T (n.664-247C>T) c.572-247C>T (n.572-247C>T) | dbSNP |
| 5 | g.1213217A= | CA1522519777 | SLC6A19 | c.664-246A= (n.664-246A=) c.572-246A= (n.572-246A=) | |
| 5 | g.1213217A>C | CA1072492438 | SLC6A19 | c.664-246A>C (n.664-246A>C) c.572-246A>C (n.572-246A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213217A>G | CA557557222 | SLC6A19 | c.664-246A>G (n.664-246A>G) c.572-246A>G (n.572-246A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213219A>C | CA1072492441 | SLC6A19 | c.664-244A>C (n.664-244A>C) c.572-244A>C (n.572-244A>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213219A>G | CA2590900191 | SLC6A19 | c.664-244A>G (n.664-244A>G) c.572-244A>G (n.572-244A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213220T>A | CA1522519780 | SLC6A19 | c.664-243T>A (n.664-243T>A) c.572-243T>A (n.572-243T>A) | dbSNP |
| 5 | g.1213220T>G | CA2765038652 | SLC6A19 | c.664-243T>G (n.664-243T>G) c.572-243T>G (n.572-243T>G) | |
| 5 | g.1213220T= | CA1522519779 | SLC6A19 | c.664-243T= (n.664-243T=) c.572-243T= (n.572-243T=) | |
| 5 | g.1213222C= | CA1522519782 | SLC6A19 | c.664-241C= (n.664-241C=) c.572-241C= (n.572-241C=) | |
| 5 | g.1213222C>T | CA802930219 | SLC6A19 | c.664-241C>T (n.664-241C>T) c.572-241C>T (n.572-241C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213223T>A | CA2765038653 | SLC6A19 | c.664-240T>A (n.664-240T>A) c.572-240T>A (n.572-240T>A) | |
| 5 | g.1213223T>C | CA1072492443 | SLC6A19 | c.664-240T>C (n.664-240T>C) c.572-240T>C (n.572-240T>C) | gnomAD v3 gnomAD v4 |
| 5 | g.1213223T>G | CA2765038654 | SLC6A19 | c.664-240T>G (n.664-240T>G) c.572-240T>G (n.572-240T>G) | |
| 5 | g.1213225del | CA2765038655 | SLC6A19 | c.664-238del (n.664-238del) c.572-238del (n.572-238del) | |
| 5 | g.1213225T>A | CA2590900193 | SLC6A19 | c.664-238T>A (n.664-238T>A) c.572-238T>A (n.572-238T>A) | gnomAD v3 gnomAD v4 |
| 5 | g.1213225T>C | CA1072492444 | SLC6A19 | c.664-238T>C (n.664-238T>C) c.572-238T>C (n.572-238T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213225T>G | CA2765038656 | SLC6A19 | c.664-238T>G (n.664-238T>G) c.572-238T>G (n.572-238T>G) | |
| 5 | g.1213225T= | CA1522519784 | SLC6A19 | c.664-238T= (n.664-238T=) c.572-238T= (n.572-238T=) | |
| 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.1213227C>A | CA557557223 | SLC6A19 | c.664-236C>A (n.664-236C>A) c.572-236C>A (n.572-236C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213227C= | CA1522519787 | SLC6A19 | c.664-236C= (n.664-236C=) c.572-236C= (n.572-236C=) | |
| 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.1213229C>A | CA1522519791 | SLC6A19 | c.664-234C>A (n.664-234C>A) c.572-234C>A (n.572-234C>A) | dbSNP |
| 5 | g.1213229C= | CA1522519790 | SLC6A19 | c.664-234C= (n.664-234C=) c.572-234C= (n.572-234C=) | |
| 5 | g.1213229C>T | CA1522519792 | SLC6A19 | c.664-234C>T (n.664-234C>T) c.572-234C>T (n.572-234C>T) | dbSNP |
| 5 | g.1213230T>C | CA802930225 | SLC6A19 | c.664-233T>C (n.664-233T>C) c.572-233T>C (n.572-233T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213230T= | CA1522519793 | SLC6A19 | c.664-233T= (n.664-233T=) c.572-233T= (n.572-233T=) | |
| 5 | g.1213234_1213342del | CA1072492447 | SLC6A19 | c.664-229_664-121del (n.664-229_664-121del) c.572-229_572-121del (n.572-229_572-121del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213232C= | CA1522519796 | SLC6A19 | c.664-231C= (n.664-231C=) c.572-231C= (n.572-231C=) | |
| 5 | g.1213232C>T | CA557557224 | SLC6A19 | c.664-231C>T (n.664-231C>T) c.572-231C>T (n.572-231C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213233G>A | CA557557225 | SLC6A19 | c.664-230G>A (n.664-230G>A) c.572-230G>A (n.572-230G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213233G= | CA1522519799 | SLC6A19 | c.664-230G= (n.664-230G=) c.572-230G= (n.572-230G=) | |
| 5 | g.1213235A= | CA1522519801 | SLC6A19 | c.664-228A= (n.664-228A=) c.572-228A= (n.572-228A=) | |
| 5 | g.1213235A>C | CA1522519802 | SLC6A19 | c.664-228A>C (n.664-228A>C) c.572-228A>C (n.572-228A>C) | dbSNP |
| 5 | g.1213235_1213237del | CA2765038658 | SLC6A19 | c.664-228_664-226del (n.664-228_664-226del) c.572-228_572-226del (n.572-228_572-226del) | |
| 5 | g.1213240_1213348del | CA1072492449 | SLC6A19 | c.664-223_664-115del (n.664-223_664-115del) c.572-223_572-115del (n.572-223_572-115del) | gnomAD v3 gnomAD v4 |
| 5 | g.1213236G>A | CA1072492452 | SLC6A19 | c.664-227G>A (n.664-227G>A) c.572-227G>A (n.572-227G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213236G>C | CA112941285 | SLC6A19 | c.664-227G>C (n.664-227G>C) c.572-227G>C (n.572-227G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213236G= | CA1522519804 | SLC6A19 | c.664-227G= (n.664-227G=) c.572-227G= (n.572-227G=) | |
| 5 | g.1213236G>T | CA1072492454 | SLC6A19 | c.664-227G>T (n.664-227G>T) c.572-227G>T (n.572-227G>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213237G>C | CA1522519807 | SLC6A19 | c.664-226G>C (n.664-226G>C) c.572-226G>C (n.572-226G>C) | dbSNP |
| 5 | g.1213237G= | CA1522519805 | SLC6A19 | c.664-226G= (n.664-226G=) c.572-226G= (n.572-226G=) | |
| 5 | g.1213248_1213378del | CA1072492458 | SLC6A19 | c.664-215_664-85del (n.664-215_664-85del) c.572-215_572-85del (n.572-215_572-85del) | gnomAD v3 gnomAD v4 |
| 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.1213239_1213240insGTGTA | CA557557226 | SLC6A19 | c.664-224_664-223insGTGTA (n.664-224_664-223insGTGTA) c.572-224_572-223insGTGTA (n.572-224_572-223insGTGTA) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213239_1213240insGTGTACAT | CA1072492462 | SLC6A19 | c.664-224_664-223insGTGTACAT (n.664-224_664-223insGTGTACAT) c.572-224_572-223insGTGTACAT (n.572-224_572-223insGTGTACAT) | gnomAD v3 gnomAD v4 |
| 5 | g.1213239_1213240insGTGTACATCA | CA1072492463 | SLC6A19 | c.664-224_664-223insGTGTACATCA (n.664-224_664-223insGTGTACATCA) c.572-224_572-223insGTGTACATCA (n.572-224_572-223insGTGTACATCA) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213239_1213240insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTT | CA1072492468 | SLC6A19 | c.664-224_664-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTT (n.664-224_664-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTT) c.572-224_572-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTT (n.572-224_572-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTT) | gnomAD v3 gnomAD v4 |
| 5 | g.1213239_1213240insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCAT | CA1072492470 | SLC6A19 | c.664-224_664-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCAT (n.664-224_664-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCAT) c.572-224_572-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCAT (n.572-224_572-223insGTGTACATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCAT) | gnomAD v3 gnomAD v4 |
| 5 | g.1213240C= | CA1522519809 | SLC6A19 | c.664-223C= (n.664-223C=) c.572-223C= (n.572-223C=) | |
| 5 | g.1213240C>G | CA2765038660 | SLC6A19 | c.664-223C>G (n.664-223C>G) c.572-223C>G (n.572-223C>G) | |
| 5 | g.1213240C>T | CA802930228 | SLC6A19 | c.664-223C>T (n.664-223C>T) c.572-223C>T (n.572-223C>T) | dbSNP |
| 5 | g.1213241_1213250del | CA2765038662 | SLC6A19 | c.664-222_664-213del (n.664-222_664-213del) c.572-222_572-213del (n.572-222_572-213del) | |
| 5 | g.1213240_1213299del | CA2765038661 | SLC6A19 | c.664-223_664-164del (n.664-223_664-164del) c.572-223_572-164del (n.572-223_572-164del) | |
| 5 | g.1213240_1213241insATCACCTCCACGCTGCCCTATGT | CA1072492480 | SLC6A19 | c.664-223_664-222insATCACCTCCACGCTGCCCTATGT (n.664-223_664-222insATCACCTCCACGCTGCCCTATGT) c.572-223_572-222insATCACCTCCACGCTGCCCTATGT (n.572-223_572-222insATCACCTCCACGCTGCCCTATGT) | gnomAD v3 gnomAD v4 |
| 5 | g.1213240_1213241insATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGG | CA1072492482 | SLC6A19 | c.664-223_664-222insATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGG (n.664-223_664-222insATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGG) c.572-223_572-222insATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGG (n.572-223_572-222insATCACCTCCACGCTGCCCTATGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGG) | gnomAD v3 gnomAD v4 |
| 5 | g.1213241C>A | CA1522519813 | SLC6A19 | c.664-222C>A (n.664-222C>A) c.572-222C>A (n.572-222C>A) | dbSNP |
| 5 | g.1213241C= | CA1522519812 | SLC6A19 | c.664-222C= (n.664-222C=) c.572-222C= (n.572-222C=) | |
| 5 | g.1213241C>G | CA2765038663 | SLC6A19 | c.664-222C>G (n.664-222C>G) c.572-222C>G (n.572-222C>G) | |
| 5 | g.1213241C>T | CA557557227 | SLC6A19 | c.664-222C>T (n.664-222C>T) c.572-222C>T (n.572-222C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213241_1213242insTCCACGCT | CA1072492492 | SLC6A19 | c.664-222_664-221insTCCACGCT (n.664-222_664-221insTCCACGCT) c.572-222_572-221insTCCACGCT (n.572-222_572-221insTCCACGCT) | gnomAD v3 gnomAD v4 |
| 5 | g.1213242G>A | CA1072492495 | SLC6A19 | c.664-221G>A (n.664-221G>A) c.572-221G>A (n.572-221G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213242G>C | CA112941290 | SLC6A19 | c.664-221G>C (n.664-221G>C) c.572-221G>C (n.572-221G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213242G= | CA1522519817 | SLC6A19 | c.664-221G= (n.664-221G=) c.572-221G= (n.572-221G=) | |
| 5 | g.1213242G>T | CA1072492498 | SLC6A19 | c.664-221G>T (n.664-221G>T) c.572-221G>T (n.572-221G>T) | gnomAD v3 gnomAD v4 |
| 5 | g.1213248_1213263del | CA1072492494 | SLC6A19 | c.664-215_664-200del (n.664-215_664-200del) c.572-215_572-200del (n.572-215_572-200del) | gnomAD v3 gnomAD v4 |