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 |
|---|---|---|---|---|---|
| 19 | g.13135163_13135176del | CA2582801155 | NACC1 | c.-8-37_-8-24del (n.-8-37_-8-24del) | gnomAD v4 |
| 19 | g.13135174_13135175del | CA2582801165 | NACC1 | c.-8-26_-8-25del (n.-8-26_-8-25del) | gnomAD v4 |
| 19 | g.13135175C>A | CA2582801169 | NACC1 | c.-8-25C>A (n.-8-25C>A) | gnomAD v4 |
| 19 | g.13135175C= | CA2323741335 | NACC1 | c.-8-25C= (n.-8-25C=) | |
| 19 | g.13135175C>G | CA993702616 | NACC1 | c.-8-25C>G (n.-8-25C>G) | dbSNP gnomAD v4 |
| 19 | g.13135176C>A | CA2582801170 | NACC1 | c.-8-24C>A (n.-8-24C>A) | gnomAD v4 |
| 19 | g.13135177A= | CA2323741336 | NACC1 | c.-8-23A= (n.-8-23A=) | |
| 19 | g.13135177A>C | CA2582801171 | NACC1 | c.-8-23A>C (n.-8-23A>C) | gnomAD v4 |
| 19 | g.13135177A>G | CA2582801172 | NACC1 | c.-8-23A>G (n.-8-23A>G) | gnomAD v4 |
| 19 | g.13135177A>T | CA9238203 | NACC1 | c.-8-23A>T (n.-8-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13135179T>C | CA2813661548 | NACC1 | c.-8-21T>C (n.-8-21T>C) | |
| 19 | g.13135179T>G | CA2582801173 | NACC1 | c.-8-21T>G (n.-8-21T>G) | gnomAD v4 |
| 19 | g.13135180C= | CA2323741337 | NACC1 | c.-8-20C= (n.-8-20C=) | |
| 19 | g.13135180C>G | CA9238204 | NACC1 | c.-8-20C>G (n.-8-20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13135181C= | CA2323741338 | NACC1 | c.-8-19C= (n.-8-19C=) | |
| 19 | g.13135181C>T | CA632122522 | NACC1 | c.-8-19C>T (n.-8-19C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135182T>C | CA2582801174 | NACC1 | c.-8-18T>C (n.-8-18T>C) | gnomAD v4 |
| 19 | g.13135184C>A | CA993702623 | NACC1 | c.-8-16C>A (n.-8-16C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13135184C= | CA2323741339 | NACC1 | c.-8-16C= (n.-8-16C=) | |
| 19 | g.13135184C>T | CA2582801175 | NACC1 | c.-8-16C>T (n.-8-16C>T) | gnomAD v4 |
| 19 | g.13135185C>G | CA2582801176 | NACC1 | c.-8-15C>G (n.-8-15C>G) | gnomAD v4 |
| 19 | g.13135185C>T | CA2506348560 | NACC1 | c.-8-15C>T (n.-8-15C>T) | gnomAD v4 |
| 19 | g.13135186T>C | CA2582801177 | NACC1 | c.-8-14T>C (n.-8-14T>C) | gnomAD v4 |
| 19 | g.13135187G>A | CA2582801178 | NACC1 | c.-8-13G>A (n.-8-13G>A) | gnomAD v4 |
| 19 | g.13135187G>T | CA2582801179 | NACC1 | c.-8-13G>T (n.-8-13G>T) | gnomAD v4 |
| 19 | g.13135188C>A | CA2582801180 | NACC1 | c.-8-12C>A (n.-8-12C>A) | gnomAD v4 |
| 19 | g.13135188C= | CA2323741340 | NACC1 | c.-8-12C= (n.-8-12C=) | |
| 19 | g.13135188C>T | CA2323741341 | NACC1 | c.-8-12C>T (n.-8-12C>T) | dbSNP |
| 19 | g.13135191dup | CA2582801181 | NACC1 | c.-8-9dup (n.-8-9dup) | gnomAD v4 |
| 19 | g.13135188_13135189insA | CA9238205 | NACC1 | c.-8-12_-8-11insA (n.-8-12_-8-11insA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13135189C>A | CA9238206 | NACC1 | c.-8-11C>A (n.-8-11C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13135189C= | CA2323741342 | NACC1 | c.-8-11C= (n.-8-11C=) | |
| 19 | g.13135190C= | CA2323741343 | NACC1 | c.-8-10C= (n.-8-10C=) | |
| 19 | g.13135190C>G | CA783429900 | NACC1 | c.-8-10C>G (n.-8-10C>G) | dbSNP gnomAD v4 |
| 19 | g.13135190C>T | CA632122523 | NACC1 | c.-8-10C>T (n.-8-10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135191C>G | CA2582801182 | NACC1 | c.-8-9C>G (n.-8-9C>G) | gnomAD v4 |
| 19 | g.13135193C= | CA2323741344 | NACC1 | c.-8-7C= (n.-8-7C=) | |
| 19 | g.13135193C>G | CA9238208 | NACC1 | c.-8-7C>G (n.-8-7C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135193C>T | CA9238207 | NACC1 | c.-8-7C>T (n.-8-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135194G>A | CA632122525 | NACC1 | c.-8-6G>A (n.-8-6G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135194G>C | CA2582801183 | NACC1 | c.-8-6G>C (n.-8-6G>C) | gnomAD v4 |
| 19 | g.13135194G= | CA2323741345 | NACC1 | c.-8-6G= (n.-8-6G=) | |
| 19 | g.13135194G>T | CA2323741346 | NACC1 | c.-8-6G>T (n.-8-6G>T) | dbSNP |
| 19 | g.13135196G>A | CA2323741348 | NACC1 | c.-8-4G>A (n.-8-4G>A) | dbSNP gnomAD v4 |
| 19 | g.13135196G= | CA2323741347 | NACC1 | c.-8-4G= (n.-8-4G=) | |
| 19 | g.13135196G>T | CA2582801186 | NACC1 | c.-8-4G>T (n.-8-4G>T) | gnomAD v4 |
| 19 | g.13135196_13135197insTCGCGGGTGAAGACGGAG | CA2582801185 | NACC1 | c.-8-4_-8-3insTCGCGGGTGAAGACGGAG (n.-8-4_-8-3insTCGCGGGTGAAGACGGAG) | gnomAD v4 |
| 19 | g.13135197_13135198insCGCCGCTGCGGAGCCCGCCGGGACCCCCCGGAGCGCGGCCACGGCGC | CA2582801184 | NACC1 | c.-8-3_-8-2insCGCCGCTGCGGAGCCCGCCGGGACCCCCCGGAGCGCGGCCACGGCGC (n.-8-3_-8-2insCGCCGCTGCGGAGCCCGCCGGGACCCCCCGGAGCGCGGCCACGGCGC) | gnomAD v4 |
| 19 | g.13135196_13135197insT | CA2512452247 | NACC1 | c.-8-4_-8-3insT (n.-8-4_-8-3insT) | gnomAD v4 |
| 19 | g.13135196_13135197insTCGCGGGTGAAGA | CA2582801188 | NACC1 | c.-8-4_-8-3insTCGCGGGTGAAGA (n.-8-4_-8-3insTCGCGGGTGAAGA) | gnomAD v4 |
| 19 | g.13135197C>A | CA2582801187 | NACC1 | c.-8-3C>A (n.-8-3C>A) | gnomAD v4 |
| 19 | g.13135197C= | CA2323741349 | NACC1 | c.-8-3C= (n.-8-3C=) | |
| 19 | g.13135197C>T | CA632122527 | NACC1 | c.-8-3C>T (n.-8-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13135200_13135216del | CA632122526 | NACC1 | c.-8_9del | gnomAD v2 |
| 19 | g.13135197_13135198insGCGGGTGA | CA2582801189 | NACC1 | c.-8-3_-8-2insGCGGGTGA (n.-8-3_-8-2insGCGGGTGA) | gnomAD v4 |
| 19 | g.13135197_13135198insGCGGGTGAAGACGG | CA2509190476 | NACC1 | c.-8-3_-8-2insGCGGGTGAAGACGG (n.-8-3_-8-2insGCGGGTGAAGACGG) | gnomAD v4 |
| 19 | g.13135198A= | CA2323741350 | NACC1 | c.-8-2A= (n.-8-2A=) | |
| 19 | g.13135198A>C | CA632122528 | NACC1 | c.-8-2A>C (n.-8-2A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13135198A>G | CA2582801190 | NACC1 | c.-8-2A>G (n.-8-2A>G) | gnomAD v4 |
| 19 | g.13135199G>A | CA2582801191 | NACC1 | c.-8-1G>A (n.-8-1G>A) | gnomAD v4 |
| 19 | g.13135200C>A | CA2582801193 | NACC1 | c.-8C>A (n.-8C>A) | gnomAD v4 |
| 19 | g.13135200C>T | CA2582801194 | NACC1 | c.-8C>T (n.-8C>T) | gnomAD v4 |
| 19 | g.13135200_13135201insAGGAGTCGGACTC | CA2582801192 | NACC1 | c.-8_-7insAGGAGTCGGACTC (n.-8_-7insAGGAGTCGGACTC) | gnomAD v4 |
| 19 | g.13135201C>A | CA2582801195 | NACC1 | c.-7C>A (n.-7C>A) | gnomAD v4 |
| 19 | g.13135201C= | CA2323741351 | NACC1 | c.-7C= (n.-7C=) | |
| 19 | g.13135201C>G | CA632122529 | NACC1 | c.-7C>G (n.-7C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13135201C>T | CA9238209 | NACC1 | c.-7C>T (n.-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13135202G>A | CA9238210 | NACC1 | c.-6G>A (n.-6G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135202G= | CA2323741352 | NACC1 | c.-6G= (n.-6G=) | |
| 19 | g.13135202G>T | CA2576641107 | NACC1 | c.-6G>T (n.-6G>T) | gnomAD v4 |
| 19 | g.13135203del | CA2582801196 | NACC1 | c.-5del (n.-5del) | gnomAD v4 |
| 19 | g.13135203C= | CA2323741353 | NACC1 | c.-5C= (n.-5C=) | |
| 19 | g.13135203C>G | CA2323741354 | NACC1 | c.-5C>G (n.-5C>G) | dbSNP gnomAD v4 |
| 19 | g.13135203C>T | CA9238211 | NACC1 | c.-5C>T (n.-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135205G>A | CA632122530 | NACC1 | c.-3G>A (n.-3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135205G= | CA2323741355 | NACC1 | c.-3G= (n.-3G=) | |
| 19 | g.13135205G>T | CA2582801197 | NACC1 | c.-3G>T (n.-3G>T) | gnomAD v4 |
| 19 | g.13135206C>A | CA2582801198 | NACC1 | c.-2C>A (n.-2C>A) | gnomAD v4 |
| 19 | g.13135206_13135207insAGTG | CA2582801199 | NACC1 | c.-2_-1insAGTG (n.-2_-1insAGTG) | gnomAD v4 |
| 19 | g.13135207C= | CA2323741356 | NACC1 | c.-1C= (n.-1C=) | |
| 19 | g.13135207C>T | CA305552597 | NACC1 | c.-1C>T (n.-1C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13135208A>C | CA404323804 | NACC1 | c.1A>C (p.Met1Leu) | |
| 19 | g.13135208A>G | CA404323800 | NACC1 | c.1A>G (p.Met1Val) | gnomAD v4 |
| 19 | g.13135208A>T | CA404323802 | NACC1 | c.1A>T (p.Met1Leu) | |
| 19 | g.13135209T>A | CA404323807 | NACC1 | c.2T>A (p.Met1Lys) | |
| 19 | g.13135209T>C | CA404323809 | NACC1 | c.2T>C (p.Met1Thr) | |
| 19 | g.13135209T>G | CA404323811 | NACC1 | c.2T>G (p.Met1Arg) | |
| 19 | g.13135210_13135211insCCCGTG | CA2582801200 | NACC1 | c.3_4insCCCGTG (p.Met1_Ala2insProVal) | gnomAD v4 |
| 19 | g.13135210G>A | CA404323817 | NACC1 | c.3G>A (p.Met1Ile) | |
| 19 | g.13135210G>C | CA404323813 | NACC1 | c.3G>C (p.Met1Ile) | |
| 19 | g.13135210G>T | CA404323812 | NACC1 | c.3G>T (p.Met1Ile) | |
| 19 | g.13135211G>A | CA404323820 | NACC1 | c.4G>A (p.Ala2Thr) | gnomAD v4 |
| 19 | g.13135211G>C | CA404323822 | NACC1 | c.4G>C (p.Ala2Pro) | |
| 19 | g.13135211G>T | CA404323823 | NACC1 | c.4G>T (p.Ala2Ser) | |
| 19 | g.13135212C>A | CA404323826 | NACC1 | c.5C>A (p.Ala2Asp) | |
| 19 | g.13135212C>G | CA404323827 | NACC1 | c.5C>G (p.Ala2Gly) | |
| 19 | g.13135212C>T | CA404323828 | NACC1 | c.5C>T (p.Ala2Val) | |
| 19 | g.13135213C>A | CA505782386 | NACC1 | c.6C>A (p.Ala2=) | gnomAD v4 |
| 19 | g.13135213C>G | CA505782387 | NACC1 | c.6C>G (p.Ala2=) | |
| 19 | g.13135213C>T | CA505782388 | NACC1 | c.6C>T (p.Ala2=) | |
| 19 | g.13135214C>A | CA404323831 | NACC1 | c.7C>A (p.Gln3Lys) | |
| 19 | g.13135214C>G | CA404323833 | NACC1 | c.7C>G (p.Gln3Glu) | |
| 19 | g.13135214C>T | CA404323832 | NACC1 | c.7C>T (p.Gln3Ter) | |
| 19 | g.13135215A>C | CA404323836 | NACC1 | c.8A>C (p.Gln3Pro) | |
| 19 | g.13135215A>G | CA404323837 | NACC1 | c.8A>G (p.Gln3Arg) | |
| 19 | g.13135215A>T | CA404323838 | NACC1 | c.8A>T (p.Gln3Leu) | |
| 19 | g.13135216G>A | CA505782389 | NACC1 | c.9G>A (p.Gln3=) | gnomAD v4 |
| 19 | g.13135216G>C | CA404323839 | NACC1 | c.9G>C (p.Gln3His) | |
| 19 | g.13135216G>T | CA404323840 | NACC1 | c.9G>T (p.Gln3His) | |
| 19 | g.13135217A= | CA2323741357 | NACC1 | c.10A= (p.Thr4=) | |
| 19 | g.13135217A>C | CA404323841 | NACC1 | c.10A>C (p.Thr4Pro) | |
| 19 | g.13135217A>G | CA404323842 | NACC1 | c.10A>G (p.Thr4Ala) | dbSNP |
| 19 | g.13135217A>T | CA404323843 | NACC1 | c.10A>T (p.Thr4Ser) | |
| 19 | g.13135218C>A | CA404323845 | NACC1 | c.11C>A (p.Thr4Lys) | |
| 19 | g.13135218C>G | CA404323847 | NACC1 | c.11C>G (p.Thr4Arg) | |
| 19 | g.13135218C>T | CA404323849 | NACC1 | c.11C>T (p.Thr4Ile) | |
| 19 | g.13135219A= | CA2323741358 | NACC1 | c.12A= (p.Thr4=) | |
| 19 | g.13135219A>C | CA505782390 | NACC1 | c.12A>C (p.Thr4=) | |
| 19 | g.13135219A>G | CA505782391 | NACC1 | c.12A>G (p.Thr4=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135219A>T | CA505782392 | NACC1 | c.12A>T (p.Thr4=) | |
| 19 | g.13135220C>A | CA404323851 | NACC1 | c.13C>A (p.Leu5Met) | |
| 19 | g.13135220C>G | CA404323853 | NACC1 | c.13C>G (p.Leu5Val) | |
| 19 | g.13135220C>T | CA505782393 | NACC1 | c.13C>T (p.Leu5=) | |
| 19 | g.13135221T>A | CA404323855 | NACC1 | c.14T>A (p.Leu5Gln) | |
| 19 | g.13135221T>C | CA404323859 | NACC1 | c.14T>C (p.Leu5Pro) | |
| 19 | g.13135221T>G | CA404323857 | NACC1 | c.14T>G (p.Leu5Arg) | |
| 19 | g.13135222G>A | CA505782394 | NACC1 | c.15G>A (p.Leu5=) | |
| 19 | g.13135222G>C | CA505782396 | NACC1 | c.15G>C (p.Leu5=) | |
| 19 | g.13135222G>T | CA505782395 | NACC1 | c.15G>T (p.Leu5=) | |
| 19 | g.13135223C>A | CA404323861 | NACC1 | c.16C>A (p.Gln6Lys) | gnomAD v4 |
| 19 | g.13135223C>G | CA404323863 | NACC1 | c.16C>G (p.Gln6Glu) | |
| 19 | g.13135223C>T | CA404323866 | NACC1 | c.16C>T (p.Gln6Ter) | |
| 19 | g.13135224A>C | CA404323867 | NACC1 | c.17A>C (p.Gln6Pro) | |
| 19 | g.13135224A>G | CA404323869 | NACC1 | c.17A>G (p.Gln6Arg) | COSMIC |
| 19 | g.13135224A>T | CA404323871 | NACC1 | c.17A>T (p.Gln6Leu) | |
| 19 | g.13135225G>A | CA505782397 | NACC1 | c.18G>A (p.Gln6=) | |
| 19 | g.13135225G>C | CA404323873 | NACC1 | c.18G>C (p.Gln6His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.13135225G= | CA2323741359 | NACC1 | c.18G= (p.Gln6=) | |
| 19 | g.13135225G>T | CA404323875 | NACC1 | c.18G>T (p.Gln6His) | |
| 19 | g.13135226A>C | CA404323877 | NACC1 | c.19A>C (p.Met7Leu) | |
| 19 | g.13135226A>G | CA404323878 | NACC1 | c.19A>G (p.Met7Val) | |
| 19 | g.13135226A>T | CA404323880 | NACC1 | c.19A>T (p.Met7Leu) | |
| 19 | g.13135227T>A | CA404323887 | NACC1 | c.20T>A (p.Met7Lys) | |
| 19 | g.13135227T>C | CA404323883 | NACC1 | c.20T>C (p.Met7Thr) | |
| 19 | g.13135227T>G | CA404323885 | NACC1 | c.20T>G (p.Met7Arg) | |
| 19 | g.13135228G>A | CA404323890 | NACC1 | c.21G>A (p.Met7Ile) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13135228G>C | CA404323891 | NACC1 | c.21G>C (p.Met7Ile) | |
| 19 | g.13135228G= | CA2323741360 | NACC1 | c.21G= (p.Met7=) | |
| 19 | g.13135228G>T | CA404323892 | NACC1 | c.21G>T (p.Met7Ile) | gnomAD v4 |
| 19 | g.13135229G>A | CA404323893 | NACC1 | c.22G>A (p.Glu8Lys) | |
| 19 | g.13135229G>C | CA404323895 | NACC1 | c.22G>C (p.Glu8Gln) | |
| 19 | g.13135229G>T | CA404323897 | NACC1 | c.22G>T (p.Glu8Ter) | |
| 19 | g.13135230A>C | CA404323900 | NACC1 | c.23A>C (p.Glu8Ala) | |
| 19 | g.13135230A>G | CA404323901 | NACC1 | c.23A>G (p.Glu8Gly) | |
| 19 | g.13135230A>T | CA404323903 | NACC1 | c.23A>T (p.Glu8Val) | |
| 19 | g.13135231G>A | CA505782399 | NACC1 | c.24G>A (p.Glu8=) | |
| 19 | g.13135231G>C | CA404323905 | NACC1 | c.24G>C (p.Glu8Asp) | |
| 19 | g.13135231G>T | CA404323907 | NACC1 | c.24G>T (p.Glu8Asp) | |
| 19 | g.13135232A>C | CA404323911 | NACC1 | c.25A>C (p.Ile9Leu) | |
| 19 | g.13135232A>G | CA404323914 | NACC1 | c.25A>G (p.Ile9Val) | |
| 19 | g.13135232A>T | CA404323909 | NACC1 | c.25A>T (p.Ile9Phe) | |
| 19 | g.13135233T>A | CA404323916 | NACC1 | c.26T>A (p.Ile9Asn) | |
| 19 | g.13135233T>C | CA404323917 | NACC1 | c.26T>C (p.Ile9Thr) | |
| 19 | g.13135233T>G | CA404323920 | NACC1 | c.26T>G (p.Ile9Ser) | |
| 19 | g.13135234C>A | CA505782402 | NACC1 | c.27C>A (p.Ile9=) | gnomAD v4 |
| 19 | g.13135234C= | CA2323741361 | NACC1 | c.27C= (p.Ile9=) | |
| 19 | g.13135234C>G | CA404323922 | NACC1 | c.27C>G (p.Ile9Met) | |
| 19 | g.13135234C>T | CA505782403 | NACC1 | c.27C>T (p.Ile9=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13135235C>A | CA404323924 | NACC1 | c.28C>A (p.Pro10Thr) | |
| 19 | g.13135235C>G | CA404323926 | NACC1 | c.28C>G (p.Pro10Ala) | |
| 19 | g.13135235C>T | CA404323927 | NACC1 | c.28C>T (p.Pro10Ser) | |
| 19 | g.13135236C>A | CA404323930 | NACC1 | c.29C>A (p.Pro10Gln) | |
| 19 | g.13135236C= | CA2323741362 | NACC1 | c.29C= (p.Pro10=) | |
| 19 | g.13135236C>G | CA404323933 | NACC1 | c.29C>G (p.Pro10Arg) | |
| 19 | g.13135236C>T | CA404323931 | NACC1 | c.29C>T (p.Pro10Leu) | ClinVar dbSNP |
| 19 | g.13135237G>A | CA305552602 | NACC1 | c.30G>A (p.Pro10=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135237G>C | CA505782406 | NACC1 | c.30G>C (p.Pro10=) | gnomAD v4 |
| 19 | g.13135237G= | CA2323741364 | NACC1 | c.30G= (p.Pro10=) | |
| 19 | g.13135237G>T | CA505782407 | NACC1 | c.30G>T (p.Pro10=) | |
| 19 | g.13135238A>C | CA404323937 | NACC1 | c.31A>C (p.Asn11His) | |
| 19 | g.13135238A>G | CA404323939 | NACC1 | c.31A>G (p.Asn11Asp) | |
| 19 | g.13135238A>T | CA404323941 | NACC1 | c.31A>T (p.Asn11Tyr) | |
| 19 | g.13135239A= | CA2323741365 | NACC1 | c.32A= (p.Asn11=) | |
| 19 | g.13135239A>C | CA404323944 | NACC1 | c.32A>C (p.Asn11Thr) | dbSNP |
| 19 | g.13135239A>G | CA404323947 | NACC1 | c.32A>G (p.Asn11Ser) | |
| 19 | g.13135239A>T | CA404323945 | NACC1 | c.32A>T (p.Asn11Ile) | |
| 19 | g.13135240C>A | CA404323949 | NACC1 | c.33C>A (p.Asn11Lys) | |
| 19 | g.13135240C>G | CA404323952 | NACC1 | c.33C>G (p.Asn11Lys) | |
| 19 | g.13135240C>T | CA505782410 | NACC1 | c.33C>T (p.Asn11=) | gnomAD v4 |
| 19 | g.13135241T>A | CA404323954 | NACC1 | c.34T>A (p.Phe12Ile) | |
| 19 | g.13135241T>C | CA404323955 | NACC1 | c.34T>C (p.Phe12Leu) | |
| 19 | g.13135241T>G | CA404323957 | NACC1 | c.34T>G (p.Phe12Val) | |
| 19 | g.13135242T>A | CA404323958 | NACC1 | c.35T>A (p.Phe12Tyr) | |
| 19 | g.13135242T>C | CA404323959 | NACC1 | c.35T>C (p.Phe12Ser) | |
| 19 | g.13135242T>G | CA404323961 | NACC1 | c.35T>G (p.Phe12Cys) | |
| 19 | g.13135243C>A | CA404323963 | NACC1 | c.36C>A (p.Phe12Leu) | |
| 19 | g.13135243C= | CA2323741368 | NACC1 | c.36C= (p.Phe12=) | |
| 19 | g.13135243C>G | CA404323965 | NACC1 | c.36C>G (p.Phe12Leu) | |
| 19 | g.13135243C>T | CA9238212 | NACC1 | c.36C>T (p.Phe12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.13135244G>A | CA9238213 | NACC1 | c.37G>A (p.Gly13Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135244G>C | CA404323969 | NACC1 | c.37G>C (p.Gly13Arg) | |
| 19 | g.13135244G= | CA2323741369 | NACC1 | c.37G= (p.Gly13=) | |
| 19 | g.13135244G>T | CA404323967 | NACC1 | c.37G>T (p.Gly13Cys) | gnomAD v4 |
| 19 | g.13135245G>A | CA404323973 | NACC1 | c.38G>A (p.Gly13Asp) | |
| 19 | g.13135245G>C | CA404323977 | NACC1 | c.38G>C (p.Gly13Ala) | gnomAD v4 |
| 19 | g.13135245G>T | CA404323974 | NACC1 | c.38G>T (p.Gly13Val) | |
| 19 | g.13135246C>A | CA505782423 | NACC1 | c.39C>A (p.Gly13=) | gnomAD v4 |
| 19 | g.13135246C>G | CA505782424 | NACC1 | c.39C>G (p.Gly13=) | |
| 19 | g.13135246C>T | CA505782425 | NACC1 | c.39C>T (p.Gly13=) | |
| 19 | g.13135247A>C | CA404323979 | NACC1 | c.40A>C (p.Asn14His) | |
| 19 | g.13135247A>G | CA404323983 | NACC1 | c.40A>G (p.Asn14Asp) | |
| 19 | g.13135247A>T | CA404323981 | NACC1 | c.40A>T (p.Asn14Tyr) | |
| 19 | g.13135248A>C | CA404323984 | NACC1 | c.41A>C (p.Asn14Thr) | |
| 19 | g.13135248A>G | CA404323985 | NACC1 | c.41A>G (p.Asn14Ser) | |
| 19 | g.13135248A>T | CA404323986 | NACC1 | c.41A>T (p.Asn14Ile) | |
| 19 | g.13135249C>A | CA404323987 | NACC1 | c.42C>A (p.Asn14Lys) | |
| 19 | g.13135249C>G | CA404323988 | NACC1 | c.42C>G (p.Asn14Lys) | |
| 19 | g.13135249C>T | CA505782428 | NACC1 | c.42C>T (p.Asn14=) | |
| 19 | g.13135250A>C | CA404323989 | NACC1 | c.43A>C (p.Ser15Arg) | |
| 19 | g.13135250A>G | CA404323990 | NACC1 | c.43A>G (p.Ser15Gly) | |
| 19 | g.13135250A>T | CA404323992 | NACC1 | c.43A>T (p.Ser15Cys) | |
| 19 | g.13135251G>A | CA404323994 | NACC1 | c.44G>A (p.Ser15Asn) | ClinVar dbSNP |
| 19 | g.13135251G>C | CA404323996 | NACC1 | c.44G>C (p.Ser15Thr) | |
| 19 | g.13135251G= | CA2323741371 | NACC1 | c.44G= (p.Ser15=) | |
| 19 | g.13135251G>T | CA404323998 | NACC1 | c.44G>T (p.Ser15Ile) | |
| 19 | g.13135252C>A | CA404324002 | NACC1 | c.45C>A (p.Ser15Arg) | |
| 19 | g.13135252C= | CA2323741375 | NACC1 | c.45C= (p.Ser15=) | |
| 19 | g.13135252C>G | CA404324003 | NACC1 | c.45C>G (p.Ser15Arg) | |
| 19 | g.13135252C>T | CA505782433 | NACC1 | c.45C>T (p.Ser15=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13135253A>C | CA404324005 | NACC1 | c.46A>C (p.Ile16Leu) | |
| 19 | g.13135253A>G | CA404324006 | NACC1 | c.46A>G (p.Ile16Val) | |
| 19 | g.13135253A>T | CA404324008 | NACC1 | c.46A>T (p.Ile16Phe) | |
| 19 | g.13135254T>A | CA404324009 | NACC1 | c.47T>A (p.Ile16Asn) | |
| 19 | g.13135254T>C | CA404324011 | NACC1 | c.47T>C (p.Ile16Thr) | |
| 19 | g.13135254T>G | CA404324013 | NACC1 | c.47T>G (p.Ile16Ser) | |
| 19 | g.13135255C>A | CA505782438 | NACC1 | c.48C>A (p.Ile16=) | dbSNP |
| 19 | g.13135255C= | CA2323741377 | NACC1 | c.48C= (p.Ile16=) | |
| 19 | g.13135255C>G | CA404324014 | NACC1 | c.48C>G (p.Ile16Met) | |
| 19 | g.13135255C>T | CA9238214 | NACC1 | c.48C>T (p.Ile16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13135256C>A | CA404324018 | NACC1 | c.49C>A (p.Leu17Met) | |
| 19 | g.13135256C>G | CA404324020 | NACC1 | c.49C>G (p.Leu17Val) | |
| 19 | g.13135256C>T | CA505782440 | NACC1 | c.49C>T (p.Leu17=) | |
| 19 | g.13135257T>A | CA404324023 | NACC1 | c.50T>A (p.Leu17Gln) | |
| 19 | g.13135257T>C | CA404324025 | NACC1 | c.50T>C (p.Leu17Pro) | |
| 19 | g.13135257T>G | CA404324022 | NACC1 | c.50T>G (p.Leu17Arg) | |
| 19 | g.13135258G>A | CA505782442 | NACC1 | c.51G>A (p.Leu17=) | |
| 19 | g.13135258G>C | CA505782443 | NACC1 | c.51G>C (p.Leu17=) | |
| 19 | g.13135258G>T | CA505782445 | NACC1 | c.51G>T (p.Leu17=) | |
| 19 | g.13135259G>A | CA404324027 | NACC1 | c.52G>A (p.Glu18Lys) | |
| 19 | g.13135259G>C | CA404324029 | NACC1 | c.52G>C (p.Glu18Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13135259G= | CA2323741380 | NACC1 | c.52G= (p.Glu18=) | |
| 19 | g.13135259G>T | CA404324031 | NACC1 | c.52G>T (p.Glu18Ter) | |
| 19 | g.13135260A>C | CA404324032 | NACC1 | c.53A>C (p.Glu18Ala) | |
| 19 | g.13135260A>G | CA404324033 | NACC1 | c.53A>G (p.Glu18Gly) | |
| 19 | g.13135260A>T | CA404324035 | NACC1 | c.53A>T (p.Glu18Val) | |
| 19 | g.13135261G>A | CA505782450 | NACC1 | c.54G>A (p.Glu18=) | |
| 19 | g.13135261G>C | CA404324036 | NACC1 | c.54G>C (p.Glu18Asp) | |
| 19 | g.13135261G>T | CA404324038 | NACC1 | c.54G>T (p.Glu18Asp) | ClinVar |
| 19 | g.13135262T>A | CA404324040 | NACC1 | c.55T>A (p.Cys19Ser) | |
| 19 | g.13135262T>C | CA404324042 | NACC1 | c.55T>C (p.Cys19Arg) | gnomAD v4 |
| 19 | g.13135262T>G | CA404324044 | NACC1 | c.55T>G (p.Cys19Gly) | |
| 19 | g.13135263G>A | CA404324049 | NACC1 | c.56G>A (p.Cys19Tyr) | |
| 19 | g.13135263G>C | CA404324050 | NACC1 | c.56G>C (p.Cys19Ser) | |
| 19 | g.13135263G>T | CA404324046 | NACC1 | c.56G>T (p.Cys19Phe) | |
| 19 | g.13135267_13135290dup | CA2582801201 | NACC1 | c.60_83dup (p.Leu28_Tyr29insAsnGluGlnArgLeuGlnGlyLeu) | gnomAD v4 |
| 19 | g.13135264C>A | CA404324053 | NACC1 | c.57C>A (p.Cys19Ter) | |
| 19 | g.13135264C>G | CA404324055 | NACC1 | c.57C>G (p.Cys19Trp) | |
| 19 | g.13135264C>T | CA505782456 | NACC1 | c.57C>T (p.Cys19=) | |
| 19 | g.13135265C>A | CA404324058 | NACC1 | c.58C>A (p.Leu20Ile) | |
| 19 | g.13135265C>G | CA404324060 | NACC1 | c.58C>G (p.Leu20Val) | |
| 19 | g.13135265C>T | CA404324062 | NACC1 | c.58C>T (p.Leu20Phe) | |
| 19 | g.13135266T>A | CA404324067 | NACC1 | c.59T>A (p.Leu20His) | |
| 19 | g.13135266T>C | CA404324064 | NACC1 | c.59T>C (p.Leu20Pro) | |
| 19 | g.13135266T>G | CA404324066 | NACC1 | c.59T>G (p.Leu20Arg) | |
| 19 | g.13135267C>A | CA505782459 | NACC1 | c.60C>A (p.Leu20=) | |
| 19 | g.13135267C= | CA2323741383 | NACC1 | c.60C= (p.Leu20=) | |
| 19 | g.13135267C>G | CA505782460 | NACC1 | c.60C>G (p.Leu20=) | gnomAD v4 |
| 19 | g.13135267C>T | CA505782462 | NACC1 | c.60C>T (p.Leu20=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135268A>C | CA404324069 | NACC1 | c.61A>C (p.Asn21His) | |
| 19 | g.13135268A>G | CA404324071 | NACC1 | c.61A>G (p.Asn21Asp) | |
| 19 | g.13135268A>T | CA404324073 | NACC1 | c.61A>T (p.Asn21Tyr) | |
| 19 | g.13135269A>C | CA404324075 | NACC1 | c.62A>C (p.Asn21Thr) | |
| 19 | g.13135269A>G | CA404324077 | NACC1 | c.62A>G (p.Asn21Ser) | gnomAD v4 |
| 19 | g.13135269A>T | CA404324079 | NACC1 | c.62A>T (p.Asn21Ile) | |
| 19 | g.13135270T>A | CA404324084 | NACC1 | c.63T>A (p.Asn21Lys) | |
| 19 | g.13135270T>C | CA9238215 | NACC1 | c.63T>C (p.Asn21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13135270T>G | CA404324081 | NACC1 | c.63T>G (p.Asn21Lys) | |
| 19 | g.13135270T= | CA2323741384 | NACC1 | c.63T= (p.Asn21=) | |
| 19 | g.13135271G>A | CA404324091 | NACC1 | c.64G>A (p.Glu22Lys) | |
| 19 | g.13135271G>C | CA404324088 | NACC1 | c.64G>C (p.Glu22Gln) | |
| 19 | g.13135271G>T | CA404324090 | NACC1 | c.64G>T (p.Glu22Ter) | |
| 19 | g.13135272A= | CA2323741388 | NACC1 | c.65A= (p.Glu22=) | |
| 19 | g.13135272A>C | CA404324095 | NACC1 | c.65A>C (p.Glu22Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13135272A>G | CA404324096 | NACC1 | c.65A>G (p.Glu22Gly) | |
| 19 | g.13135272A>T | CA404324098 | NACC1 | c.65A>T (p.Glu22Val) | |
| 19 | g.13135272_13135273del | CA2576641108 | NACC1 | c.65_66del (p.Glu22AlafsTer9) | |
| 19 | g.13135273A>C | CA404324101 | NACC1 | c.66A>C (p.Glu22Asp) | |
| 19 | g.13135273A>G | CA505782469 | NACC1 | c.66A>G (p.Glu22=) | gnomAD v4 |
| 19 | g.13135273A>T | CA404324103 | NACC1 | c.66A>T (p.Glu22Asp) | |
| 19 | g.13135274C>A | CA404324105 | NACC1 | c.67C>A (p.Gln23Lys) | |
| 19 | g.13135274C>G | CA404324107 | NACC1 | c.67C>G (p.Gln23Glu) | |
| 19 | g.13135274C>T | CA404324109 | NACC1 | c.67C>T (p.Gln23Ter) | |
| 19 | g.13135275A>C | CA404324111 | NACC1 | c.68A>C (p.Gln23Pro) | |
| 19 | g.13135275A>G | CA404324113 | NACC1 | c.68A>G (p.Gln23Arg) | gnomAD v4 |
| 19 | g.13135275A>T | CA404324115 | NACC1 | c.68A>T (p.Gln23Leu) |