2 | g.68371784_68371787delinsCACA | CA1258629514 | PLEK | c.42+6391_42+6394delinsCACA (n.42+6391_42+6394delinsCACA)
| |
2 | g.68371785A= | CA1258629515 | PLEK | c.42+6392A= (n.42+6392A=)
| |
2 | g.68371785A>T | CA892332649 | PLEK | c.42+6392A>T (n.42+6392A>T)
| dbSNP |
2 | g.68371787_68371789del | CA49440527 | PLEK | c.42+6394_42+6396del (n.42+6394_42+6396del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371787A= | CA1258629516 | PLEK | c.42+6394A= (n.42+6394A=)
| |
2 | g.68371787A>C | CA1258629517 | PLEK | c.42+6394A>C (n.42+6394A>C)
| dbSNP |
2 | g.68371788A>C | CA1031837340 | PLEK | c.42+6395A>C (n.42+6395A>C)
| gnomAD v3 gnomAD v4 |
2 | g.68371789C= | CA1258629518 | PLEK | c.42+6396C= (n.42+6396C=)
| |
2 | g.68371789C>G | CA1031837346 | PLEK | c.42+6396C>G (n.42+6396C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371789C>T | CA49440529 | PLEK | c.42+6396C>T (n.42+6396C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371790G>A | CA49440533 | PLEK | c.42+6397G>A (n.42+6397G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371790G= | CA1258629519 | PLEK | c.42+6397G= (n.42+6397G=)
| |
2 | g.68371792G>C | CA892332656 | PLEK | c.42+6399G>C (n.42+6399G>C)
| dbSNP |
2 | g.68371792G= | CA1258629520 | PLEK | c.42+6399G= (n.42+6399G=)
| |
2 | g.68371795T>C | CA1258629522 | PLEK | c.42+6402T>C (n.42+6402T>C)
| dbSNP |
2 | g.68371795T= | CA1258629521 | PLEK | c.42+6402T= (n.42+6402T=)
| |
2 | g.68371796A= | CA1258629523 | PLEK | c.42+6403A= (n.42+6403A=)
| |
2 | g.68371796_68371797insC | CA533396666 | PLEK | c.42+6403_42+6404insC (n.42+6403_42+6404insC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371797G>C | CA892332669 | PLEK | c.42+6404G>C (n.42+6404G>C)
| dbSNP |
2 | g.68371797G= | CA1258629524 | PLEK | c.42+6404G= (n.42+6404G=)
| |
2 | g.68371797G>T | CA533396668 | PLEK | c.42+6404G>T (n.42+6404G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371797dup | CA892332664 | PLEK | c.42+6404dup (n.42+6404dup)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371797_68371798delinsGT | CA1258629525 | PLEK | c.42+6404_42+6405delinsGT (n.42+6404_42+6405delinsGT)
| |
2 | g.68371797_68371798insC | CA1031837366 | PLEK | c.42+6404_42+6405insC (n.42+6404_42+6405insC)
| gnomAD v3 gnomAD v4 |
2 | g.68371798T>G | CA49440552 | PLEK | c.42+6405T>G (n.42+6405T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371798T= | CA1258629526 | PLEK | c.42+6405T= (n.42+6405T=)
| |
2 | g.68371806dup | CA49440542 | PLEK | c.42+6413dup (n.42+6413dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371805_68371806dup | CA892332675 | PLEK | c.42+6412_42+6413dup (n.42+6412_42+6413dup)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371804_68371806dup | CA1031837363 | PLEK | c.42+6411_42+6413dup (n.42+6411_42+6413dup)
| gnomAD v3 gnomAD v4 |
2 | g.68371801_68371806dup | CA1031837358 | PLEK | c.42+6408_42+6413dup (n.42+6408_42+6413dup)
| gnomAD v3 gnomAD v4 |
2 | g.68371806del | CA892332674 | PLEK | c.42+6413del (n.42+6413del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371798_68371799insC | CA892332676 | PLEK | c.42+6405_42+6406insC (n.42+6405_42+6406insC)
| dbSNP |
2 | g.68371800T>C | CA892332681 | PLEK | c.42+6407T>C (n.42+6407T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371800T= | CA1258629527 | PLEK | c.42+6407T= (n.42+6407T=)
| |
2 | g.68371807G>T | CA1031837377 | PLEK | c.42+6414G>T (n.42+6414G>T)
| gnomAD v3 gnomAD v4 |
2 | g.68371807_68371808del | CA2750333332 | PLEK | c.42+6414_42+6415del (n.42+6414_42+6415del)
| |
2 | g.68371807_68371811del | CA1031837373 | PLEK | c.42+6414_42+6418del (n.42+6414_42+6418del)
| gnomAD v3 gnomAD v4 |
2 | g.68371808A= | CA1258629528 | PLEK | c.42+6415A= (n.42+6415A=)
| |
2 | g.68371808A>T | CA49440556 | PLEK | c.42+6415A>T (n.42+6415A>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371808_68371813delinsACAGCC | CA1258629529 | PLEK | c.42+6415_42+6420delinsACAGCC (n.42+6415_42+6420delinsACAGCC)
| |
2 | g.68371808_68371809insTTT | CA2750333333 | PLEK | c.42+6415_42+6416insTTT (n.42+6415_42+6416insTTT)
| |
2 | g.68371809C>T | CA1031837381 | PLEK | c.42+6416C>T (n.42+6416C>T)
| gnomAD v3 gnomAD v4 |
2 | g.68371811_68371815del | CA533396672 | PLEK | c.42+6418_42+6422del (n.42+6418_42+6422del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371810A>G | CA2750333334 | PLEK | c.42+6417A>G (n.42+6417A>G)
| |
2 | g.68371811G>T | CA1031837387 | PLEK | c.42+6418G>T (n.42+6418G>T)
| gnomAD v3 gnomAD v4 |
2 | g.68371812C= | CA1258629530 | PLEK | c.42+6419C= (n.42+6419C=)
| |
2 | g.68371812C>T | CA533396674 | PLEK | c.42+6419C>T (n.42+6419C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371814C= | CA1258629531 | PLEK | c.42+6421C= (n.42+6421C=)
| |
2 | g.68371814C>T | CA892332689 | PLEK | c.42+6421C>T (n.42+6421C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371818T>A | CA49440563 | PLEK | c.42+6425T>A (n.42+6425T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371818T= | CA1258629532 | PLEK | c.42+6425T= (n.42+6425T=)
| |
2 | g.68371823T>A | CA892332691 | PLEK | c.42+6430T>A (n.42+6430T>A)
| dbSNP |
2 | g.68371823T>C | CA11117393 | PLEK | c.42+6430T>C (n.42+6430T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371823T>G | CA2581776458 | PLEK | c.42+6430T>G (n.42+6430T>G)
| |
2 | g.68371823T= | CA1258629533 | PLEK | c.42+6430T= (n.42+6430T=)
| |
2 | g.68371825G>A | CA49440577 | PLEK | c.42+6432G>A (n.42+6432G>A)
| dbSNP |
2 | g.68371825G>C | CA1258629535 | PLEK | c.42+6432G>C (n.42+6432G>C)
| dbSNP |
2 | g.68371825G= | CA1258629534 | PLEK | c.42+6432G= (n.42+6432G=)
| |
2 | g.68371825G>T | CA892332694 | PLEK | c.42+6432G>T (n.42+6432G>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371826C= | CA1258629536 | PLEK | c.42+6433C= (n.42+6433C=)
| |
2 | g.68371826C>T | CA892332696 | PLEK | c.42+6433C>T (n.42+6433C>T)
| dbSNP |
2 | g.68371828del | CA2511707794 | PLEK | c.42+6435del (n.42+6435del)
| |
2 | g.68371830C= | CA1258629537 | PLEK | c.42+6437C= (n.42+6437C=)
| |
2 | g.68371830C>G | CA892332703 | PLEK | c.42+6437C>G (n.42+6437C>G)
| dbSNP |
2 | g.68371832_68371834delinsCAT | CA1258629538 | PLEK | c.42+6439_42+6441delinsCAT (n.42+6439_42+6441delinsCAT)
| |
2 | g.68371833A= | CA1258629539 | PLEK | c.42+6440A= (n.42+6440A=)
| |
2 | g.68371833A>G | CA49440584 | PLEK | c.42+6440A>G (n.42+6440A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371834_68371835del | CA1031837394 | PLEK | c.42+6441_42+6442del (n.42+6441_42+6442del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371835A= | CA1258629540 | PLEK | c.42+6442A= (n.42+6442A=)
| |
2 | g.68371835A>G | CA49440590 | PLEK | c.42+6442A>G (n.42+6442A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371836G>T | CA2541708310 | PLEK | c.42+6443G>T (n.42+6443G>T)
| |
2 | g.68371838G= | CA1258629541 | PLEK | c.42+6445G= (n.42+6445G=)
| |
2 | g.68371838G>T | CA1258629542 | PLEK | c.42+6445G>T (n.42+6445G>T)
| dbSNP |
2 | g.68371840_68371841delinsTC | CA1258629543 | PLEK | c.42+6447_42+6448delinsTC (n.42+6447_42+6448delinsTC)
| |
2 | g.68371841C= | CA1258629544 | PLEK | c.42+6448C= (n.42+6448C=)
| |
2 | g.68371842del | CA533396679 | PLEK | c.42+6449del (n.42+6449del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371841_68371842insA | CA533396681 | PLEK | c.42+6448_42+6449insA (n.42+6448_42+6449insA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371842C>A | CA11117394 | PLEK | c.42+6449C>A (n.42+6449C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371842C= | CA1258629546 | PLEK | c.42+6449C= (n.42+6449C=)
| |
2 | g.68371842C>G | CA1258629545 | PLEK | c.42+6449C>G (n.42+6449C>G)
| dbSNP |
2 | g.68371842C>T | CA533396684 | PLEK | c.42+6449C>T (n.42+6449C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371842_68371843delinsCT | CA1258629547 | PLEK | c.42+6449_42+6450delinsCT (n.42+6449_42+6450delinsCT)
| |
2 | g.68371843T>A | CA49440611 | PLEK | c.42+6450T>A (n.42+6450T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371843T= | CA1258629548 | PLEK | c.42+6450T= (n.42+6450T=)
| |
2 | g.68371848del | CA49440615 | PLEK | c.42+6455del (n.42+6455del)
| dbSNP |
2 | g.68371844T>A | CA1031837408 | PLEK | c.42+6451T>A (n.42+6451T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371844T= | CA1258629549 | PLEK | c.42+6451T= (n.42+6451T=)
| |
2 | g.68371845T>A | CA2599958831 | PLEK | c.42+6452T>A (n.42+6452T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371848T>C | CA49440620 | PLEK | c.42+6455T>C (n.42+6455T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371848T= | CA1258629550 | PLEK | c.42+6455T= (n.42+6455T=)
| |
2 | g.68371852A>C | CA2557265706 | PLEK | c.42+6459A>C (n.42+6459A>C)
| |
2 | g.68371853C= | CA1258629551 | PLEK | c.42+6460C= (n.42+6460C=)
| |
2 | g.68371853C>T | CA1258629552 | PLEK | c.42+6460C>T (n.42+6460C>T)
| dbSNP |
2 | g.68371854A= | CA1258629553 | PLEK | c.42+6461A= (n.42+6461A=)
| |
2 | g.68371854A>G | CA1258629554 | PLEK | c.42+6461A>G (n.42+6461A>G)
| dbSNP |
2 | g.68371859C>A | CA49440626 | PLEK | c.42+6466C>A (n.42+6466C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371859C= | CA1258629555 | PLEK | c.42+6466C= (n.42+6466C=)
| |
2 | g.68371859C>T | CA1031837409 | PLEK | c.42+6466C>T (n.42+6466C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371860A= | CA1258629556 | PLEK | c.42+6467A= (n.42+6467A=)
| |
2 | g.68371860A>G | CA49440629 | PLEK | c.42+6467A>G (n.42+6467A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.68371869A= | CA1258629557 | PLEK | c.42+6476A= (n.42+6476A=)
| |
2 | g.68371869A>G | CA49440635 | PLEK | c.42+6476A>G (n.42+6476A>G)
| dbSNP |
2 | g.68371871C= | CA1258629558 | PLEK | c.42+6478C= (n.42+6478C=)
| |
2 | g.68371871C>T | CA892332711 | PLEK | c.42+6478C>T (n.42+6478C>T)
| dbSNP |
2 | g.68371873T>C | CA49440639 | PLEK | c.42+6480T>C (n.42+6480T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371873T= | CA1258629559 | PLEK | c.42+6480T= (n.42+6480T=)
| |
2 | g.68371874A= | CA1258629560 | PLEK | c.42+6481A= (n.42+6481A=)
| |
2 | g.68371874A>G | CA892332720 | PLEK | c.42+6481A>G (n.42+6481A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371874A>T | CA892332718 | PLEK | c.42+6481A>T (n.42+6481A>T)
| dbSNP |
2 | g.68371879T>C | CA1031837411 | PLEK | c.42+6486T>C (n.42+6486T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371879T= | CA1258629561 | PLEK | c.42+6486T= (n.42+6486T=)
| |
2 | g.68371884A= | CA1258629562 | PLEK | c.42+6491A= (n.42+6491A=)
| |
2 | g.68371884A>C | CA2548684410 | PLEK | c.42+6491A>C (n.42+6491A>C)
| |
2 | g.68371884A>T | CA49440650 | PLEK | c.42+6491A>T (n.42+6491A>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.68371884_68371885delinsAC | CA1258629563 | PLEK | c.42+6491_42+6492delinsAC (n.42+6491_42+6492delinsAC)
| |