19 | g.1396948T>A | CA2317697897 | | | dbSNP gnomAD v4 |
19 | g.1396948T>C | CA304061607 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396948T>G | CA2317697898 | | | dbSNP gnomAD v4 |
19 | g.1396948T= | CA2317697896 | | | |
19 | g.1396949C>A | CA2582639289 | | | gnomAD v4 |
19 | g.1396949C= | CA2317697899 | | | |
19 | g.1396949C>G | CA2582639290 | | | gnomAD v4 |
19 | g.1396949C>T | CA2317697900 | | | dbSNP |
19 | g.1396950T>C | CA2582639291 | | | gnomAD v4 |
19 | g.1396951del | CA2813256141 | | | |
19 | g.1396951G>A | CA783444070 | | | dbSNP gnomAD v4 |
19 | g.1396951G= | CA2317697901 | | | |
19 | g.1396951G>T | CA2582639292 | | | gnomAD v4 |
19 | g.1396952C>T | CA2582639293 | | | gnomAD v4 |
19 | g.1396953T>A | CA2582639294 | | | gnomAD v4 |
19 | g.1396953T>C | CA14724109 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396953T= | CA2317697902 | | | |
19 | g.1396954A= | CA2317697903 | | | |
19 | g.1396954A>C | CA2582639295 | | | gnomAD v4 |
19 | g.1396954A>G | CA2317697904 | | | dbSNP gnomAD v4 |
19 | g.1396954A>T | CA992513149 | | | gnomAD v3 gnomAD v4 |
19 | g.1396955T>A | CA2582639296 | | | gnomAD v4 |
19 | g.1396955T>C | CA2582639297 | | | gnomAD v4 |
19 | g.1396955T>G | CA992513150 | | | gnomAD v3 gnomAD v4 |
19 | g.1396956G>A | CA2582639299 | | | gnomAD v4 |
19 | g.1396956G>C | CA2317697906 | | | dbSNP |
19 | g.1396956G= | CA2317697905 | | | |
19 | g.1396956G>T | CA2582639300 | | | gnomAD v4 |
19 | g.1396958del | CA2582639298 | | | gnomAD v4 |
19 | g.1396956_1396957insAGAAC | CA2813256142 | | | |
19 | g.1396957G>C | CA2317697908 | | | dbSNP |
19 | g.1396957G= | CA2317697907 | | | |
19 | g.1396957G>T | CA2582639301 | | | gnomAD v4 |
19 | g.1396958G>A | CA992513152 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396958G= | CA2317697909 | | | |
19 | g.1396958G>T | CA2582639302 | | | gnomAD v4 |
19 | g.1396959C>A | CA2582639303 | | | gnomAD v4 |
19 | g.1396959C>G | CA2582639304 | | | gnomAD v4 |
19 | g.1396959C>T | CA2813256143 | | | |
19 | g.1396960A>C | CA2582639305 | | | gnomAD v4 |
19 | g.1396961A>C | CA2582639306 | | | gnomAD v4 |
19 | g.1396961A>G | CA2582639307 | | | gnomAD v4 |
19 | g.1396962G>A | CA304061614 | | | dbSNP gnomAD v4 |
19 | g.1396962G= | CA2317697910 | | | |
19 | g.1396962G>T | CA2317697911 | | | dbSNP gnomAD v4 |
19 | g.1396963A>C | CA992513153 | | | gnomAD v3 gnomAD v4 |
19 | g.1396963A>G | CA2582639308 | | | gnomAD v4 |
19 | g.1396964C>A | CA2582639309 | | | gnomAD v4 |
19 | g.1396964_1396966delinsCAG | CA2317697913 | | | |
19 | g.1396964_1396968delinsCAGTG | CA2317697912 | | | |
19 | g.1396965A= | CA2317697914 | | | |
19 | g.1396965A>C | CA2582639310 | | | gnomAD v4 |
19 | g.1396965A>G | CA992513157 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396965A>T | CA992513156 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396965_1396966del | CA783444079 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396965_1396968del | CA631044640 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396966G>A | CA2317697916 | | | dbSNP gnomAD v4 |
19 | g.1396966G= | CA2317697915 | | | |
19 | g.1396966dup | CA992513160 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396967T>A | CA2582639311 | | | gnomAD v4 |
19 | g.1396967T>G | CA783444084 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396967T= | CA2317697918 | | | |
19 | g.1396967_1396968delinsTG | CA2317697917 | | | |
19 | g.1396968G>A | CA2317697920 | | | dbSNP gnomAD v4 |
19 | g.1396968G= | CA2317697919 | | | |
19 | g.1396968G>T | CA783444092 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396975dup | CA304061617 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1396974_1396975dup | CA631044641 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396973_1396975dup | CA2813256145 | | | |
19 | g.1396975del | CA304061621 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396968_1396969insA | CA783444097 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396968_1396969insT | CA2582639312 | | | gnomAD v4 |
19 | g.1396969G>A | CA2582639313 | | | dbSNP gnomAD v4 |
19 | g.1396969G>C | CA304061624 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396969G= | CA2317697921 | | | |
19 | g.1396969G>T | CA631044642 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396970G>A | CA2317697923 | | | dbSNP gnomAD v4 |
19 | g.1396970G>C | CA304061627 | | | dbSNP gnomAD v4 |
19 | g.1396970G= | CA2317697922 | | | |
19 | g.1396970G>T | CA992513166 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396970_1396971insT | CA2582639314 | | | gnomAD v4 |
19 | g.1396971G>A | CA14729831 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396971G= | CA2317697924 | | | |
19 | g.1396972G>A | CA2317697926 | | | dbSNP gnomAD v4 |
19 | g.1396972G>C | CA2582639316 | | | gnomAD v4 |
19 | g.1396972G= | CA2317697925 | | | |
19 | g.1396972G>T | CA2582639317 | | | gnomAD v4 |
19 | g.1396979_1396983del | CA2582639315 | | | gnomAD v4 |
19 | g.1396972_1396973insA | CA2582639320 | | | gnomAD v4 |
19 | g.1396973G>A | CA2317697927 | | | dbSNP gnomAD v4 |
19 | g.1396973G= | CA2317697928 | | | |
19 | g.1396973G>T | CA2582639318 | | | gnomAD v4 |
19 | g.1396976_1396979del | CA2582639319 | | | gnomAD v4 |
19 | g.1396974G>A | CA783444105 | | | dbSNP gnomAD v4 |
19 | g.1396974G>C | CA2317697930 | | | dbSNP gnomAD v4 |
19 | g.1396974G= | CA2317697929 | | | |
19 | g.1396974G>T | CA2582639322 | | | gnomAD v4 |
19 | g.1396976_1396978dup | CA2582639321 | | | gnomAD v4 |
19 | g.1396976_1396978del | CA2582639323 | | | gnomAD v4 |
19 | g.1396975G>A | CA304061633 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396975G= | CA2317697931 | | | |
19 | g.1396975G>T | CA631044643 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396976C>A | CA2582639324 | | | gnomAD v4 |
19 | g.1396976C= | CA2317697932 | | | |
19 | g.1396976C>G | CA992513167 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396976C>T | CA304061637 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396977G>A | CA304061640 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396977G= | CA2317697933 | | | |
19 | g.1396977G>T | CA2582639326 | | | gnomAD v4 |
19 | g.1396980del | CA2582639325 | | | gnomAD v4 |
19 | g.1396978G>A | CA2582639327 | | | gnomAD v4 |
19 | g.1396978G>T | CA2582639328 | | | gnomAD v4 |
19 | g.1396979G>A | CA2582639329 | | | gnomAD v4 |
19 | g.1396979G>T | CA2582639330 | | | gnomAD v4 |
19 | g.1396980G>A | CA2582639331 | | | gnomAD v4 |
19 | g.1396980G>T | CA2582639332 | | | gnomAD v4 |
19 | g.1396981C>A | CA2582639333 | | | gnomAD v4 |
19 | g.1396981C= | CA2317697934 | | | |
19 | g.1396981C>G | CA992513168 | | | gnomAD v3 gnomAD v4 |
19 | g.1396981C>T | CA783444109 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396982G>A | CA304061643 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396982G= | CA2317697935 | | | |
19 | g.1396982G>T | CA2582639334 | | | gnomAD v4 |
19 | g.1396983G>A | CA2582639335 | | | gnomAD v4 |
19 | g.1396983G>C | CA2582639336 | | | gnomAD v4 |
19 | g.1396983G>T | CA2582639337 | | | gnomAD v4 |
19 | g.1396984A>C | CA2582639338 | | | gnomAD v4 |
19 | g.1396984A>G | CA2582639339 | | | gnomAD v4 |
19 | g.1396985T>A | CA992513173 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396985T>C | CA2582639340 | | | gnomAD v4 |
19 | g.1396985T>G | CA2582639341 | | | gnomAD v4 |
19 | g.1396985T= | CA2317697936 | | | |
19 | g.1396986C>T | CA2582639342 | | | gnomAD v4 |
19 | g.1396987C>A | CA2582639343 | | | gnomAD v4 |
19 | g.1396987C>T | CA2735455828 | | | dbSNP |
19 | g.1396988T>A | CA2582639344 | | | gnomAD v4 |
19 | g.1396988T>C | CA304061645 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396988T>G | CA2581947586 | | | gnomAD v3 gnomAD v4 |
19 | g.1396988T= | CA2317697937 | | | |
19 | g.1396989G>A | CA2582639346 | | | gnomAD v4 |
19 | g.1396992del | CA2582639345 | | | gnomAD v4 |
19 | g.1396990G>A | CA2582639347 | | | gnomAD v4 |
19 | g.1396990G= | CA2317697938 | | | |
19 | g.1396990G>T | CA304061646 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396991G>A | CA631044644 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396991G= | CA2317697939 | | | |
19 | g.1396991G>T | CA2582639348 | | | gnomAD v4 |
19 | g.1396992G>A | CA2582639349 | | | gnomAD v4 |
19 | g.1396992G>T | CA2582639350 | | | gnomAD v4 |
19 | g.1396993C>A | CA2582639351 | | | gnomAD v4 |
19 | g.1396993C>G | CA2582639352 | | | gnomAD v4 |
19 | g.1396993C>T | CA2582639353 | | | gnomAD v4 |
19 | g.1396994C>A | CA2582639354 | | | gnomAD v4 |
19 | g.1396994C= | CA2317697940 | | | |
19 | g.1396994C>T | CA304061647 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396995G>A | CA631044645 | | | gnomAD v2 gnomAD v4 |
19 | g.1396995G>C | CA2317697942 | | | dbSNP gnomAD v4 |
19 | g.1396995G= | CA2317697941 | | | |
19 | g.1396995G>T | CA783444118 | | | dbSNP gnomAD v4 |
19 | g.1396996C>A | CA2582639355 | | | gnomAD v4 |
19 | g.1396997T>A | CA304061648 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1396997T>C | CA2582639356 | | | gnomAD v4 |
19 | g.1396997T= | CA2317697944 | | | |
19 | g.1396997_1397000delinsTCAG | CA2317697943 | | | |
19 | g.1396998C>A | CA2582639357 | | | gnomAD v4 |
19 | g.1396998C>G | CA2582639358 | | | gnomAD v4 |
19 | g.1396998C>T | CA2582639359 | | | gnomAD v4 |
19 | g.1396998_1397000del | CA2317697945 | | | dbSNP |
19 | g.1396999A= | CA2317697946 | | | |
19 | g.1396999A>C | CA2582639360 | | | gnomAD v4 |
19 | g.1396999A>G | CA992513176 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1396999A>T | CA304061649 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1397000G>A | CA2582639361 | | | gnomAD v4 |
19 | g.1397000G>T | CA2582639362 | | | gnomAD v4 |
19 | g.1397001A>G | CA2582639363 | | | gnomAD v4 |
19 | g.1397002A>C | CA2813256146 | | | |
19 | g.1397002A>G | CA2582639364 | | | gnomAD v4 |
19 | g.1397003A>C | CA2582639365 | | | gnomAD v4 |
19 | g.1397004C>A | CA2317697948 | | | dbSNP gnomAD v4 |
19 | g.1397004C= | CA2317697947 | | | |
19 | g.1397004C>G | CA2582639367 | | | gnomAD v4 |
19 | g.1397004C>T | CA2582639366 | | | dbSNP gnomAD v4 |
19 | g.1397005C>A | CA2582639368 | | | gnomAD v4 |
19 | g.1397006T>A | CA304061650 | | | dbSNP |
19 | g.1397006T>C | CA2582639370 | | | gnomAD v4 |
19 | g.1397006T>G | CA2582639369 | | | gnomAD v4 |
19 | g.1397006T= | CA2317697949 | | | |
19 | g.1397007G>T | CA2582639371 | | | gnomAD v4 |
19 | g.1397008G>T | CA2582639372 | | | gnomAD v4 |
19 | g.1397009A>C | CA2582639373 | | | gnomAD v4 |
19 | g.1397009A>G | CA2582639374 | | | gnomAD v4 |
19 | g.1397009A>T | CA2582639375 | | | gnomAD v4 |
19 | g.1397010G>A | CA2582639377 | | | gnomAD v4 |
19 | g.1397010G>C | CA2317697951 | | | dbSNP |
19 | g.1397010G= | CA2317697950 | | | |
19 | g.1397010G>T | CA2582639378 | | | gnomAD v4 |
19 | g.1397013del | CA2582639376 | | | gnomAD v4 |
19 | g.1397011G>T | CA2582639379 | | | gnomAD v4 |
19 | g.1397012G>A | CA2582639380 | | | gnomAD v4 |
19 | g.1397012G>T | CA2582639381 | | | gnomAD v4 |
19 | g.1397013G>A | CA2582639383 | | | gnomAD v4 |
19 | g.1397013G>C | CA2813256147 | | | |
19 | g.1397013G>T | CA2582639382 | | | gnomAD v4 |
19 | g.1397014A>C | CA2582639384 | | | gnomAD v4 |
19 | g.1397014A>G | CA2582639385 | | | gnomAD v4 |
19 | g.1397015G>T | CA2582639386 | | | gnomAD v4 |
19 | g.1397016T>C | CA2582639387 | | | gnomAD v4 |
19 | g.1397016T>G | CA2317697953 | | | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1397016T= | CA2317697952 | | | |
19 | g.1397017C>A | CA2582639388 | | | gnomAD v4 |
19 | g.1397017C= | CA2317697954 | | | |
19 | g.1397017C>T | CA2317697955 | | | dbSNP gnomAD v4 |
19 | g.1397018A= | CA2317697956 | | | |
19 | g.1397018A>G | CA2582639389 | | | gnomAD v4 |
19 | g.1397019C>T | CA2582639391 | | | gnomAD v4 |
19 | g.1397021dup | CA304061653 | | | dbSNP |
19 | g.1397021del | CA2582639390 | | | gnomAD v4 |
19 | g.1397020C>A | CA2582639392 | | | gnomAD v4 |
19 | g.1397020C>T | CA2582639393 | | | gnomAD v4 |
19 | g.1397021C>A | CA2582639394 | | | gnomAD v4 |
19 | g.1397021C>T | CA2582639395 | | | gnomAD v4 |
19 | g.1397022A>T | CA2582639396 | | | gnomAD v4 |
19 | g.1397023C= | CA2317697957 | | | |
19 | g.1397023C>T | CA2582639397 | | | gnomAD v4 |
19 | g.1397027dup | CA2317697958 | | | dbSNP |
19 | g.1397027del | CA2582639398 | | | gnomAD v4 |
19 | g.1397025T>C | CA2582639399 | | | gnomAD v4 |
19 | g.1397025T>G | CA2582639400 | | | gnomAD v4 |
19 | g.1397026T>C | CA992513178 | GAMT | c.*333A>G (n.*333A>G)
| dbSNP gnomAD v4 |
19 | g.1397026T= | CA2317697959 | GAMT | c.*333A= (n.*333A=)
| |
19 | g.1397027T>C | CA304061654 | GAMT | c.*332A>G (n.*332A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1397027T= | CA2317697960 | GAMT | c.*332A= (n.*332A=)
| |
19 | g.1397028C>G | CA2582639401 | GAMT | c.*331G>C (n.*331G>C)
| gnomAD v4 |
19 | g.1397028C>T | CA2582639402 | GAMT | c.*331G>A (n.*331G>A)
| gnomAD v4 |
19 | g.1397029C>A | CA2582639403 | GAMT | c.*330G>T (n.*330G>T)
| gnomAD v4 |
19 | g.1397029C>T | CA2582639404 | GAMT | c.*330G>A (n.*330G>A)
| gnomAD v4 |
19 | g.1397030T>A | CA2582639405 | GAMT | c.*329A>T (n.*329A>T)
| gnomAD v4 |
19 | g.1397030T>C | CA304061657 | GAMT | c.*329A>G (n.*329A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1397030T= | CA2317697961 | GAMT | c.*329A= (n.*329A=)
| |
19 | g.1397031G>A | CA2582639406 | GAMT | c.*328C>T (n.*328C>T)
| gnomAD v4 |
19 | g.1397031G= | CA2317697962 | GAMT | c.*328C= (n.*328C=)
| |
19 | g.1397031G>T | CA631044646 | GAMT | c.*328C>A (n.*328C>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.1397032T>G | CA2813256148 | GAMT | c.*327A>C (n.*327A>C)
| |
19 | g.1397033G>A | CA2518335501 | GAMT | c.*326C>T (n.*326C>T)
| |
19 | g.1397033G>T | CA2582639407 | GAMT | c.*326C>A (n.*326C>A)
| gnomAD v4 |
19 | g.1397034T>C | CA2582639408 | GAMT | c.*325A>G (n.*325A>G)
| gnomAD v4 |
19 | g.1397035C>A | CA2582639409 | GAMT | c.*324G>T (n.*324G>T)
| gnomAD v4 |
19 | g.1397035C= | CA2317697963 | GAMT | c.*324G= (n.*324G=)
| |
19 | g.1397035C>T | CA304061659 | GAMT | c.*324G>A (n.*324G>A)
| dbSNP gnomAD v4 |
19 | g.1397036C>A | CA783444126 | GAMT | c.*323G>T (n.*323G>T)
| dbSNP gnomAD v4 |
19 | g.1397036C= | CA2317697964 | GAMT | c.*323G= (n.*323G=)
| |
19 | g.1397036C>T | CA2582639410 | GAMT | c.*323G>A (n.*323G>A)
| gnomAD v4 |
19 | g.1397037A= | CA2317697965 | GAMT | c.*322T= (n.*322T=)
| |
19 | g.1397037A>C | CA2582639411 | GAMT | c.*322T>G (n.*322T>G)
| gnomAD v4 |
19 | g.1397037A>G | CA631044647 | GAMT | c.*322T>C (n.*322T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1397038T>A | CA2582639412 | GAMT | c.*321A>T (n.*321A>T)
| gnomAD v4 |
19 | g.1397038T>C | CA2582639413 | GAMT | c.*321A>G (n.*321A>G)
| gnomAD v4 |
19 | g.1397038T>G | CA2582639414 | GAMT | c.*321A>C (n.*321A>C)
| gnomAD v4 |
19 | g.1397039G>T | CA2582639415 | GAMT | c.*320C>A (n.*320C>A)
| gnomAD v4 |
19 | g.1397041del | CA2582639416 | GAMT | c.*320del (n.*320del)
| gnomAD v4 |
19 | g.1397040G>A | CA2582639417 | GAMT | c.*319C>T (n.*319C>T)
| gnomAD v4 |
19 | g.1397040G>T | CA2582639418 | GAMT | c.*319C>A (n.*319C>A)
| gnomAD v4 |
19 | g.1397041G>T | CA2582639419 | GAMT | c.*318C>A (n.*318C>A)
| gnomAD v4 |
19 | g.1397042A>C | CA2582639421 | GAMT | c.*317T>G (n.*317T>G)
| gnomAD v4 |
19 | g.1397042A>G | CA2582639420 | GAMT | c.*317T>C (n.*317T>C)
| gnomAD v4 |
19 | g.1397043T>A | CA2582639422 | GAMT | c.*316A>T (n.*316A>T)
| gnomAD v4 |
19 | g.1397043T>G | CA2582639423 | GAMT | c.*316A>C (n.*316A>C)
| gnomAD v4 |
19 | g.1397044G>C | CA2512947648 | GAMT | c.*315C>G (n.*315C>G)
| |
19 | g.1397044G>T | CA2582639424 | GAMT | c.*315C>A (n.*315C>A)
| gnomAD v4 |
19 | g.1397045G>A | CA2317697967 | GAMT | c.*314C>T (n.*314C>T)
| dbSNP gnomAD v4 |
19 | g.1397045G= | CA2317697966 | GAMT | c.*314C= (n.*314C=)
| |
19 | g.1397045G>T | CA2582639425 | GAMT | c.*314C>A (n.*314C>A)
| gnomAD v4 |
19 | g.1397046G>A | CA2582639426 | GAMT | c.*313C>T (n.*313C>T)
| gnomAD v4 |
19 | g.1397046G>T | CA2582639427 | GAMT | c.*313C>A (n.*313C>A)
| gnomAD v4 |
19 | g.1397047C>A | CA2582639428 | GAMT | c.*312G>T (n.*312G>T)
| gnomAD v4 |
19 | g.1397047C= | CA2317697968 | GAMT | c.*312G= (n.*312G=)
| |
19 | g.1397047C>G | CA2582639429 | GAMT | c.*312G>C (n.*312G>C)
| gnomAD v4 |
19 | g.1397047C>T | CA631044648 | GAMT | c.*312G>A (n.*312G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1397048G>A | CA304061663 | GAMT | c.*311C>T (n.*311C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.1397048G>C | CA10652266 | GAMT | c.*311C>G (n.*311C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1397048G= | CA2317697969 | GAMT | c.*311C= (n.*311C=)
| |
19 | g.1397048G>T | CA2317697970 | GAMT | c.*311C>A (n.*311C>A)
| dbSNP gnomAD v4 |
19 | g.1397050del | CA2582639431 | GAMT | c.*311del (n.*311del)
| gnomAD v4 |
19 | g.1397053_1397061del | CA2582639430 | GAMT | c.*303_*311del (n.*303_*311del)
| gnomAD v4 |