Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.53822383_53822466delCA2739265375PCDH15c.4409+2682_4409+2765del (n.4409+2682_4409+2765del)
c.5272_5355del (p.Pro1758_Ser1785del)
c.4388+4939_4388+5022del (n.4388+4939_4388+5022del)
c.3227-2224_3227-2141del
c.4368-2224_4368-2141del (n.4368-2224_4368-2141del)
c.5278_5361del (p.Pro1760_Ser1787del)
c.*3227_*3310del (n.*3227_*3310del)
c.5293_5376del (p.Pro1765_Ser1792del)
c.4373+2682_4373+2765del (n.4373+2682_4373+2765del)
c.5263_5346del (p.Pro1755_Ser1782del)
c.5152_5235del (p.Pro1718_Ser1745del)
c.5203_5286del (p.Pro1735_Ser1762del)
c.4371+4938_4371+5021del (n.4371+4938_4371+5021del)
c.1306-12908_1306-12825del (n.1306-12908_1306-12825del)
c.1099-12908_1099-12825del (n.1099-12908_1099-12825del)
c.2092-12908_2092-12825del (n.2092-12908_2092-12825del)
c.3206+2682_3206+2765del (n.3206+2682_3206+2765del)
c.*447+4939_*447+5022del (n.*447+4939_*447+5022del)
c.4370+4939_4370+5022del (n.4370+4939_4370+5022del)
c.5065_5148del (p.Pro1689_Ser1716del)
c.*3233_*3316del (n.*3233_*3316del)
n.2291_2374del
c.462-4441_462-4358del (n.462-4441_462-4358del)
c.4406+4939_4406+5022del (n.4406+4939_4406+5022del)
c.4385+4939_4385+5022del (n.4385+4939_4385+5022del)
c.4367+4939_4367+5022del (n.4367+4939_4367+5022del)
c.5299_5382del (p.Pro1767_Ser1794del)
c.594-4441_594-4358del (n.594-4441_594-4358del)
c.4388+2682_4388+2765del (n.4388+2682_4388+2765del)
c.5071_5154del (p.Pro1691_Ser1718del)
c.5212_5295del (p.Pro1738_Ser1765del)
c.5206_5289del (p.Pro1736_Ser1763del)
c.4368-4441_4368-4358del (n.4368-4441_4368-4358del)
n.6285_6368del
n.6276_6359del
 ClinVar
10g.53822384_53822504dupCA2697558360PCDH15c.4409+2635_4409+2755dup (n.4409+2635_4409+2755dup)
c.5225_5345dup (p.Pro1783PhefsTer28)
c.4388+4892_4388+5012dup (n.4388+4892_4388+5012dup)
c.3227-2271_3227-2151dup
c.4368-2271_4368-2151dup (n.4368-2271_4368-2151dup)
c.5231_5351dup (p.Pro1785PhefsTer28)
c.*3180_*3300dup (n.*3180_*3300dup)
c.5246_5366dup (p.Pro1790PhefsTer28)
c.4373+2635_4373+2755dup (n.4373+2635_4373+2755dup)
c.5216_5336dup (p.Pro1780PhefsTer28)
c.5105_5225dup (p.Pro1743PhefsTer28)
c.5156_5276dup (p.Pro1760PhefsTer28)
c.4371+4891_4371+5011dup (n.4371+4891_4371+5011dup)
c.1306-12955_1306-12835dup (n.1306-12955_1306-12835dup)
c.1099-12955_1099-12835dup (n.1099-12955_1099-12835dup)
c.2092-12955_2092-12835dup (n.2092-12955_2092-12835dup)
c.3206+2635_3206+2755dup (n.3206+2635_3206+2755dup)
c.*447+4892_*447+5012dup (n.*447+4892_*447+5012dup)
c.4370+4892_4370+5012dup (n.4370+4892_4370+5012dup)
c.5018_5138dup (p.Pro1714PhefsTer28)
c.*3186_*3306dup (n.*3186_*3306dup)
n.2244_2364dup
c.462-4488_462-4368dup (n.462-4488_462-4368dup)
c.4406+4892_4406+5012dup (n.4406+4892_4406+5012dup)
c.4385+4892_4385+5012dup (n.4385+4892_4385+5012dup)
c.4367+4892_4367+5012dup (n.4367+4892_4367+5012dup)
c.5252_5372dup (p.Pro1792PhefsTer28)
c.594-4488_594-4368dup (n.594-4488_594-4368dup)
c.4388+2635_4388+2755dup (n.4388+2635_4388+2755dup)
c.5024_5144dup (p.Pro1716PhefsTer28)
c.5165_5285dup (p.Pro1763PhefsTer28)
c.5159_5279dup (p.Pro1761PhefsTer28)
c.4368-4488_4368-4368dup (n.4368-4488_4368-4368dup)
n.6238_6358dup
n.6229_6349dup
 ClinVar
10g.53822383_53822446delinsGGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCACA1910738517PCDH15c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5280_5343delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1760=)
c.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.3227-2216_3227-2153delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC
c.4368-2216_4368-2153delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4368-2216_4368-2153delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5286_5349delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1762=)
c.*3235_*3298delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.*3235_*3298delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5301_5364delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1767=)
c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5271_5334delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1757=)
c.5160_5223delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1720=)
c.5211_5274delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1737=)
c.4371+4946_4371+5009delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4371+4946_4371+5009delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.1306-12900_1306-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.1306-12900_1306-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.1099-12900_1099-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.1099-12900_1099-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.2092-12900_2092-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.2092-12900_2092-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.3206+2690_3206+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.3206+2690_3206+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.*447+4947_*447+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.*447+4947_*447+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.4370+4947_4370+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4370+4947_4370+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5073_5136delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1691=)
c.*3241_*3304delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.*3241_*3304delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
n.2299_2362delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC
c.462-4433_462-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.462-4433_462-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.4406+4947_4406+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4406+4947_4406+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.4385+4947_4385+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4385+4947_4385+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5307_5370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1769=)
c.594-4433_594-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.594-4433_594-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
c.5079_5142delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1693=)
c.5220_5283delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1740=)
c.5214_5277delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (p.Pro1738=)
c.4368-4433_4368-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC (n.4368-4433_4368-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC)
n.6293_6356delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC
n.6284_6347delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC
10g.53822393_53822455delCA185064PCDH15c.4409+2690_4409+2752del (n.4409+2690_4409+2752del)
c.5280_5342del (p.Ala1761_Pro1781del)
c.4388+4947_4388+5009del (n.4388+4947_4388+5009del)
c.3227-2216_3227-2154del
c.4368-2216_4368-2154del (n.4368-2216_4368-2154del)
c.5286_5348del (p.Ala1763_Pro1783del)
c.*3235_*3297del (n.*3235_*3297del)
c.5301_5363del (p.Ala1768_Pro1788del)
c.4373+2690_4373+2752del (n.4373+2690_4373+2752del)
c.5271_5333del (p.Ala1758_Pro1778del)
c.5160_5222del (p.Ala1721_Pro1741del)
c.5211_5273del (p.Ala1738_Pro1758del)
c.4371+4946_4371+5008del (n.4371+4946_4371+5008del)
c.1306-12900_1306-12838del (n.1306-12900_1306-12838del)
c.1099-12900_1099-12838del (n.1099-12900_1099-12838del)
c.2092-12900_2092-12838del (n.2092-12900_2092-12838del)
c.3206+2690_3206+2752del (n.3206+2690_3206+2752del)
c.*447+4947_*447+5009del (n.*447+4947_*447+5009del)
c.4370+4947_4370+5009del (n.4370+4947_4370+5009del)
c.5073_5135del (p.Ala1692_Pro1712del)
c.*3241_*3303del (n.*3241_*3303del)
n.2299_2361del
c.462-4433_462-4371del (n.462-4433_462-4371del)
c.4406+4947_4406+5009del (n.4406+4947_4406+5009del)
c.4385+4947_4385+5009del (n.4385+4947_4385+5009del)
c.4367+4947_4367+5009del (n.4367+4947_4367+5009del)
c.5307_5369del (p.Ala1770_Pro1790del)
c.594-4433_594-4371del (n.594-4433_594-4371del)
c.4388+2690_4388+2752del (n.4388+2690_4388+2752del)
c.5079_5141del (p.Ala1694_Pro1714del)
c.5220_5282del (p.Ala1741_Pro1761del)
c.5214_5276del (p.Ala1739_Pro1759del)
c.4368-4433_4368-4371del (n.4368-4433_4368-4371del)
n.6293_6355del
n.6284_6346del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53822406_53822460delinsAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCAGGAGGAGGAGAAGGCA1910738668PCDH15c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5266_5320delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1756=)
c.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.3227-2230_3227-2176delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT
c.4368-2230_4368-2176delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4368-2230_4368-2176delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5272_5326delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1758=)
c.*3221_*3275delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.*3221_*3275delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5287_5341delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1763=)
c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5257_5311delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1753=)
c.5146_5200delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1716=)
c.5197_5251delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1733=)
c.4371+4932_4371+4986delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4371+4932_4371+4986delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.1306-12914_1306-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.1306-12914_1306-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.1099-12914_1099-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.1099-12914_1099-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.2092-12914_2092-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.2092-12914_2092-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.3206+2676_3206+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.3206+2676_3206+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.*447+4933_*447+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.*447+4933_*447+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.4370+4933_4370+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4370+4933_4370+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5059_5113delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1687=)
c.*3227_*3281delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.*3227_*3281delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
n.2285_2339delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT
c.462-4447_462-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.462-4447_462-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.4406+4933_4406+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4406+4933_4406+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.4385+4933_4385+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4385+4933_4385+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5293_5347delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1765=)
c.594-4447_594-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.594-4447_594-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
c.5065_5119delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1689=)
c.5206_5260delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1736=)
c.5200_5254delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (p.Pro1734=)
c.4368-4447_4368-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT (n.4368-4447_4368-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT)
n.6279_6333delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT
n.6270_6324delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT
10g.53822416_53822469delCA658822109PCDH15c.4409+2676_4409+2729del (n.4409+2676_4409+2729del)
c.5266_5319del (p.Pro1756_Pro1773del)
c.4388+4933_4388+4986del (n.4388+4933_4388+4986del)
c.3227-2230_3227-2177del
c.4368-2230_4368-2177del (n.4368-2230_4368-2177del)
c.5272_5325del (p.Pro1758_Pro1775del)
c.*3221_*3274del (n.*3221_*3274del)
c.5287_5340del (p.Pro1763_Pro1780del)
c.4373+2676_4373+2729del (n.4373+2676_4373+2729del)
c.5257_5310del (p.Pro1753_Pro1770del)
c.5146_5199del (p.Pro1716_Pro1733del)
c.5197_5250del (p.Pro1733_Pro1750del)
c.4371+4932_4371+4985del (n.4371+4932_4371+4985del)
c.1306-12914_1306-12861del (n.1306-12914_1306-12861del)
c.1099-12914_1099-12861del (n.1099-12914_1099-12861del)
c.2092-12914_2092-12861del (n.2092-12914_2092-12861del)
c.3206+2676_3206+2729del (n.3206+2676_3206+2729del)
c.*447+4933_*447+4986del (n.*447+4933_*447+4986del)
c.4370+4933_4370+4986del (n.4370+4933_4370+4986del)
c.5059_5112del (p.Pro1687_Pro1704del)
c.*3227_*3280del (n.*3227_*3280del)
n.2285_2338del
c.462-4447_462-4394del (n.462-4447_462-4394del)
c.4406+4933_4406+4986del (n.4406+4933_4406+4986del)
c.4385+4933_4385+4986del (n.4385+4933_4385+4986del)
c.4367+4933_4367+4986del (n.4367+4933_4367+4986del)
c.5293_5346del (p.Pro1765_Pro1782del)
c.594-4447_594-4394del (n.594-4447_594-4394del)
c.4388+2676_4388+2729del (n.4388+2676_4388+2729del)
c.5065_5118del (p.Pro1689_Pro1706del)
c.5206_5259del (p.Pro1736_Pro1753del)
c.5200_5253del (p.Pro1734_Pro1751del)
c.4368-4447_4368-4394del (n.4368-4447_4368-4394del)
n.6279_6332del
n.6270_6323del
 ClinVar dbSNP
10g.53822415_53822469delCA912970187PCDH15c.4409+2667_4409+2721del (n.4409+2667_4409+2721del)
c.5257_5311del (p.Ile1753PhefsTer?)
c.4388+4924_4388+4978del (n.4388+4924_4388+4978del)
c.3227-2239_3227-2185del
c.4368-2239_4368-2185del (n.4368-2239_4368-2185del)
c.5263_5317del (p.Ile1755PhefsTer?)
c.*3212_*3266del (n.*3212_*3266del)
c.5278_5332del (p.Ile1760PhefsTer?)
c.4373+2667_4373+2721del (n.4373+2667_4373+2721del)
c.5248_5302del (p.Ile1750PhefsTer?)
c.5137_5191del (p.Ile1713PhefsTer?)
c.5188_5242del (p.Ile1730PhefsTer?)
c.4371+4923_4371+4977del (n.4371+4923_4371+4977del)
c.1306-12923_1306-12869del (n.1306-12923_1306-12869del)
c.1099-12923_1099-12869del (n.1099-12923_1099-12869del)
c.2092-12923_2092-12869del (n.2092-12923_2092-12869del)
c.3206+2667_3206+2721del (n.3206+2667_3206+2721del)
c.*447+4924_*447+4978del (n.*447+4924_*447+4978del)
c.4370+4924_4370+4978del (n.4370+4924_4370+4978del)
c.5050_5104del (p.Ile1684PhefsTer?)
c.*3218_*3272del (n.*3218_*3272del)
n.2276_2330del
c.462-4456_462-4402del (n.462-4456_462-4402del)
c.4406+4924_4406+4978del (n.4406+4924_4406+4978del)
c.4385+4924_4385+4978del (n.4385+4924_4385+4978del)
c.4367+4924_4367+4978del (n.4367+4924_4367+4978del)
c.5284_5338del (p.Ile1762PhefsTer?)
c.594-4456_594-4402del (n.594-4456_594-4402del)
c.4388+2667_4388+2721del (n.4388+2667_4388+2721del)
c.5056_5110del (p.Ile1686PhefsTer?)
c.5197_5251del (p.Ile1733PhefsTer?)
c.5191_5245del (p.Ile1731PhefsTer?)
c.4368-4456_4368-4402del (n.4368-4456_4368-4402del)
n.6270_6324del
n.6261_6315del
10g.53822417_53822444delinsTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA1910738708PCDH15c.4409+2692_4409+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4409+2692_4409+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5282_5309delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1761=)
c.4388+4949_4388+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4388+4949_4388+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.3227-2214_3227-2187delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA
c.4368-2214_4368-2187delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4368-2214_4368-2187delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5288_5315delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1763=)
c.*3237_*3264delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.*3237_*3264delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5303_5330delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1768=)
c.4373+2692_4373+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4373+2692_4373+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5273_5300delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1758=)
c.5162_5189delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1721=)
c.5213_5240delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1738=)
c.4371+4948_4371+4975delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4371+4948_4371+4975delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.1306-12898_1306-12871delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.1306-12898_1306-12871delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.1099-12898_1099-12871delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.1099-12898_1099-12871delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.2092-12898_2092-12871delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.2092-12898_2092-12871delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.3206+2692_3206+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.3206+2692_3206+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.*447+4949_*447+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.*447+4949_*447+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.4370+4949_4370+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4370+4949_4370+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5075_5102delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1692=)
c.*3243_*3270delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.*3243_*3270delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
n.2301_2328delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA
c.462-4431_462-4404delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.462-4431_462-4404delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.4406+4949_4406+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4406+4949_4406+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.4385+4949_4385+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4385+4949_4385+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.4367+4949_4367+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4367+4949_4367+4976delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5309_5336delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1770=)
c.594-4431_594-4404delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.594-4431_594-4404delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.4388+2692_4388+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4388+2692_4388+2719delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
c.5081_5108delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1694=)
c.5222_5249delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1741=)
c.5216_5243delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (p.Ala1739=)
c.4368-4431_4368-4404delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA (n.4368-4431_4368-4404delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA)
n.6295_6322delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA
n.6286_6313delinsCTCCTGCTCCTCTTGCTCCTCCTCCTGA
10g.53822430_53822456dupCA2609212083PCDH15c.4409+2692_4409+2718dup (n.4409+2692_4409+2718dup)
c.5282_5308dup (p.Pro1769_Asp1770insAlaProAlaProLeuAlaProProPro)
c.4388+4949_4388+4975dup (n.4388+4949_4388+4975dup)
c.3227-2214_3227-2188dup
c.4368-2214_4368-2188dup (n.4368-2214_4368-2188dup)
c.5288_5314dup (p.Pro1771_Asp1772insAlaProAlaProLeuAlaProProPro)
c.*3237_*3263dup (n.*3237_*3263dup)
c.5303_5329dup (p.Pro1776_Asp1777insAlaProAlaProLeuAlaProProPro)
c.4373+2692_4373+2718dup (n.4373+2692_4373+2718dup)
c.5273_5299dup (p.Pro1766_Asp1767insAlaProAlaProLeuAlaProProPro)
c.5162_5188dup (p.Pro1729_Asp1730insAlaProAlaProLeuAlaProProPro)
c.5213_5239dup (p.Pro1746_Asp1747insAlaProAlaProLeuAlaProProPro)
c.4371+4948_4371+4974dup (n.4371+4948_4371+4974dup)
c.1306-12898_1306-12872dup (n.1306-12898_1306-12872dup)
c.1099-12898_1099-12872dup (n.1099-12898_1099-12872dup)
c.2092-12898_2092-12872dup (n.2092-12898_2092-12872dup)
c.3206+2692_3206+2718dup (n.3206+2692_3206+2718dup)
c.*447+4949_*447+4975dup (n.*447+4949_*447+4975dup)
c.4370+4949_4370+4975dup (n.4370+4949_4370+4975dup)
c.5075_5101dup (p.Pro1700_Asp1701insAlaProAlaProLeuAlaProProPro)
c.*3243_*3269dup (n.*3243_*3269dup)
n.2301_2327dup
c.462-4431_462-4405dup (n.462-4431_462-4405dup)
c.4406+4949_4406+4975dup (n.4406+4949_4406+4975dup)
c.4385+4949_4385+4975dup (n.4385+4949_4385+4975dup)
c.4367+4949_4367+4975dup (n.4367+4949_4367+4975dup)
c.5309_5335dup (p.Pro1778_Asp1779insAlaProAlaProLeuAlaProProPro)
c.594-4431_594-4405dup (n.594-4431_594-4405dup)
c.4388+2692_4388+2718dup (n.4388+2692_4388+2718dup)
c.5081_5107dup (p.Pro1702_Asp1703insAlaProAlaProLeuAlaProProPro)
c.5222_5248dup (p.Pro1749_Asp1750insAlaProAlaProLeuAlaProProPro)
c.5216_5242dup (p.Pro1747_Asp1748insAlaProAlaProLeuAlaProProPro)
c.4368-4431_4368-4405dup (n.4368-4431_4368-4405dup)
n.6295_6321dup
n.6286_6312dup
 gnomAD v4
10g.53822430_53822456delCA5505070PCDH15c.4409+2692_4409+2718del (n.4409+2692_4409+2718del)
c.5282_5308del (p.Ala1761_Pro1769del)
c.4388+4949_4388+4975del (n.4388+4949_4388+4975del)
c.3227-2214_3227-2188del
c.4368-2214_4368-2188del (n.4368-2214_4368-2188del)
c.5288_5314del (p.Ala1763_Pro1771del)
c.*3237_*3263del (n.*3237_*3263del)
c.5303_5329del (p.Ala1768_Pro1776del)
c.4373+2692_4373+2718del (n.4373+2692_4373+2718del)
c.5273_5299del (p.Ala1758_Pro1766del)
c.5162_5188del (p.Ala1721_Pro1729del)
c.5213_5239del (p.Ala1738_Pro1746del)
c.4371+4948_4371+4974del (n.4371+4948_4371+4974del)
c.1306-12898_1306-12872del (n.1306-12898_1306-12872del)
c.1099-12898_1099-12872del (n.1099-12898_1099-12872del)
c.2092-12898_2092-12872del (n.2092-12898_2092-12872del)
c.3206+2692_3206+2718del (n.3206+2692_3206+2718del)
c.*447+4949_*447+4975del (n.*447+4949_*447+4975del)
c.4370+4949_4370+4975del (n.4370+4949_4370+4975del)
c.5075_5101del (p.Ala1692_Pro1700del)
c.*3243_*3269del (n.*3243_*3269del)
n.2301_2327del
c.462-4431_462-4405del (n.462-4431_462-4405del)
c.4406+4949_4406+4975del (n.4406+4949_4406+4975del)
c.4385+4949_4385+4975del (n.4385+4949_4385+4975del)
c.4367+4949_4367+4975del (n.4367+4949_4367+4975del)
c.5309_5335del (p.Ala1770_Pro1778del)
c.594-4431_594-4405del (n.594-4431_594-4405del)
c.4388+2692_4388+2718del (n.4388+2692_4388+2718del)
c.5081_5107del (p.Ala1694_Pro1702del)
c.5222_5248del (p.Ala1741_Pro1749del)
c.5216_5242del (p.Ala1739_Pro1747del)
c.4368-4431_4368-4405del (n.4368-4431_4368-4405del)
n.6295_6321del
n.6286_6312del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53822424_53822438delCA2609212084PCDH15c.4409+2703_4409+2717del (n.4409+2703_4409+2717del)
c.5293_5307del (p.Leu1765_Pro1769del)
c.4388+4960_4388+4974del (n.4388+4960_4388+4974del)
c.3227-2203_3227-2189del
c.4368-2203_4368-2189del (n.4368-2203_4368-2189del)
c.5299_5313del (p.Leu1767_Pro1771del)
c.*3248_*3262del (n.*3248_*3262del)
c.5314_5328del (p.Leu1772_Pro1776del)
c.4373+2703_4373+2717del (n.4373+2703_4373+2717del)
c.5284_5298del (p.Leu1762_Pro1766del)
c.5173_5187del (p.Leu1725_Pro1729del)
c.5224_5238del (p.Leu1742_Pro1746del)
c.4371+4959_4371+4973del (n.4371+4959_4371+4973del)
c.1306-12887_1306-12873del (n.1306-12887_1306-12873del)
c.1099-12887_1099-12873del (n.1099-12887_1099-12873del)
c.2092-12887_2092-12873del (n.2092-12887_2092-12873del)
c.3206+2703_3206+2717del (n.3206+2703_3206+2717del)
c.*447+4960_*447+4974del (n.*447+4960_*447+4974del)
c.4370+4960_4370+4974del (n.4370+4960_4370+4974del)
c.5086_5100del (p.Leu1696_Pro1700del)
c.*3254_*3268del (n.*3254_*3268del)
n.2312_2326del
c.462-4420_462-4406del (n.462-4420_462-4406del)
c.4406+4960_4406+4974del (n.4406+4960_4406+4974del)
c.4385+4960_4385+4974del (n.4385+4960_4385+4974del)
c.4367+4960_4367+4974del (n.4367+4960_4367+4974del)
c.5320_5334del (p.Leu1774_Pro1778del)
c.594-4420_594-4406del (n.594-4420_594-4406del)
c.4388+2703_4388+2717del (n.4388+2703_4388+2717del)
c.5092_5106del (p.Leu1698_Pro1702del)
c.5233_5247del (p.Leu1745_Pro1749del)
c.5227_5241del (p.Leu1743_Pro1747del)
c.4368-4420_4368-4406del (n.4368-4420_4368-4406del)
n.6306_6320del
n.6297_6311del
 gnomAD v4
10g.53822423_53822432delinsGGAGGAGCAACA1910738745PCDH15c.4409+2704_4409+2713delinsTTGCTCCTCC (n.4409+2704_4409+2713delinsTTGCTCCTCC)
c.5294_5303delinsTTGCTCCTCC (p.Leu1765=)
c.4388+4961_4388+4970delinsTTGCTCCTCC (n.4388+4961_4388+4970delinsTTGCTCCTCC)
c.3227-2202_3227-2193delinsTTGCTCCTCC
c.4368-2202_4368-2193delinsTTGCTCCTCC (n.4368-2202_4368-2193delinsTTGCTCCTCC)
c.5300_5309delinsTTGCTCCTCC (p.Leu1767=)
c.*3249_*3258delinsTTGCTCCTCC (n.*3249_*3258delinsTTGCTCCTCC)
c.5315_5324delinsTTGCTCCTCC (p.Leu1772=)
c.4373+2704_4373+2713delinsTTGCTCCTCC (n.4373+2704_4373+2713delinsTTGCTCCTCC)
c.5285_5294delinsTTGCTCCTCC (p.Leu1762=)
c.5174_5183delinsTTGCTCCTCC (p.Leu1725=)
c.5225_5234delinsTTGCTCCTCC (p.Leu1742=)
c.4371+4960_4371+4969delinsTTGCTCCTCC (n.4371+4960_4371+4969delinsTTGCTCCTCC)
c.1306-12886_1306-12877delinsTTGCTCCTCC (n.1306-12886_1306-12877delinsTTGCTCCTCC)
c.1099-12886_1099-12877delinsTTGCTCCTCC (n.1099-12886_1099-12877delinsTTGCTCCTCC)
c.2092-12886_2092-12877delinsTTGCTCCTCC (n.2092-12886_2092-12877delinsTTGCTCCTCC)
c.3206+2704_3206+2713delinsTTGCTCCTCC (n.3206+2704_3206+2713delinsTTGCTCCTCC)
c.*447+4961_*447+4970delinsTTGCTCCTCC (n.*447+4961_*447+4970delinsTTGCTCCTCC)
c.4370+4961_4370+4970delinsTTGCTCCTCC (n.4370+4961_4370+4970delinsTTGCTCCTCC)
c.5087_5096delinsTTGCTCCTCC (p.Leu1696=)
c.*3255_*3264delinsTTGCTCCTCC (n.*3255_*3264delinsTTGCTCCTCC)
n.2313_2322delinsTTGCTCCTCC
c.462-4419_462-4410delinsTTGCTCCTCC (n.462-4419_462-4410delinsTTGCTCCTCC)
c.4406+4961_4406+4970delinsTTGCTCCTCC (n.4406+4961_4406+4970delinsTTGCTCCTCC)
c.4385+4961_4385+4970delinsTTGCTCCTCC (n.4385+4961_4385+4970delinsTTGCTCCTCC)
c.4367+4961_4367+4970delinsTTGCTCCTCC (n.4367+4961_4367+4970delinsTTGCTCCTCC)
c.5321_5330delinsTTGCTCCTCC (p.Leu1774=)
c.594-4419_594-4410delinsTTGCTCCTCC (n.594-4419_594-4410delinsTTGCTCCTCC)
c.4388+2704_4388+2713delinsTTGCTCCTCC (n.4388+2704_4388+2713delinsTTGCTCCTCC)
c.5093_5102delinsTTGCTCCTCC (p.Leu1698=)
c.5234_5243delinsTTGCTCCTCC (p.Leu1745=)
c.5228_5237delinsTTGCTCCTCC (p.Leu1743=)
c.4368-4419_4368-4410delinsTTGCTCCTCC (n.4368-4419_4368-4410delinsTTGCTCCTCC)
n.6307_6316delinsTTGCTCCTCC
n.6298_6307delinsTTGCTCCTCC
10g.53822424_53822439delinsGAGGAGCAAGAGGAGCCA1910738763PCDH15c.4409+2697_4409+2712delinsGCTCCTCTTGCTCCTC (n.4409+2697_4409+2712delinsGCTCCTCTTGCTCCTC)
c.5287_5302delinsGCTCCTCTTGCTCCTC (p.Ala1763=)
c.4388+4954_4388+4969delinsGCTCCTCTTGCTCCTC (n.4388+4954_4388+4969delinsGCTCCTCTTGCTCCTC)
c.3227-2209_3227-2194delinsGCTCCTCTTGCTCCTC
c.4368-2209_4368-2194delinsGCTCCTCTTGCTCCTC (n.4368-2209_4368-2194delinsGCTCCTCTTGCTCCTC)
c.5293_5308delinsGCTCCTCTTGCTCCTC (p.Ala1765=)
c.*3242_*3257delinsGCTCCTCTTGCTCCTC (n.*3242_*3257delinsGCTCCTCTTGCTCCTC)
c.5308_5323delinsGCTCCTCTTGCTCCTC (p.Ala1770=)
c.4373+2697_4373+2712delinsGCTCCTCTTGCTCCTC (n.4373+2697_4373+2712delinsGCTCCTCTTGCTCCTC)
c.5278_5293delinsGCTCCTCTTGCTCCTC (p.Ala1760=)
c.5167_5182delinsGCTCCTCTTGCTCCTC (p.Ala1723=)
c.5218_5233delinsGCTCCTCTTGCTCCTC (p.Ala1740=)
c.4371+4953_4371+4968delinsGCTCCTCTTGCTCCTC (n.4371+4953_4371+4968delinsGCTCCTCTTGCTCCTC)
c.1306-12893_1306-12878delinsGCTCCTCTTGCTCCTC (n.1306-12893_1306-12878delinsGCTCCTCTTGCTCCTC)
c.1099-12893_1099-12878delinsGCTCCTCTTGCTCCTC (n.1099-12893_1099-12878delinsGCTCCTCTTGCTCCTC)
c.2092-12893_2092-12878delinsGCTCCTCTTGCTCCTC (n.2092-12893_2092-12878delinsGCTCCTCTTGCTCCTC)
c.3206+2697_3206+2712delinsGCTCCTCTTGCTCCTC (n.3206+2697_3206+2712delinsGCTCCTCTTGCTCCTC)
c.*447+4954_*447+4969delinsGCTCCTCTTGCTCCTC (n.*447+4954_*447+4969delinsGCTCCTCTTGCTCCTC)
c.4370+4954_4370+4969delinsGCTCCTCTTGCTCCTC (n.4370+4954_4370+4969delinsGCTCCTCTTGCTCCTC)
c.5080_5095delinsGCTCCTCTTGCTCCTC (p.Ala1694=)
c.*3248_*3263delinsGCTCCTCTTGCTCCTC (n.*3248_*3263delinsGCTCCTCTTGCTCCTC)
n.2306_2321delinsGCTCCTCTTGCTCCTC
c.462-4426_462-4411delinsGCTCCTCTTGCTCCTC (n.462-4426_462-4411delinsGCTCCTCTTGCTCCTC)
c.4406+4954_4406+4969delinsGCTCCTCTTGCTCCTC (n.4406+4954_4406+4969delinsGCTCCTCTTGCTCCTC)
c.4385+4954_4385+4969delinsGCTCCTCTTGCTCCTC (n.4385+4954_4385+4969delinsGCTCCTCTTGCTCCTC)
c.4367+4954_4367+4969delinsGCTCCTCTTGCTCCTC (n.4367+4954_4367+4969delinsGCTCCTCTTGCTCCTC)
c.5314_5329delinsGCTCCTCTTGCTCCTC (p.Ala1772=)
c.594-4426_594-4411delinsGCTCCTCTTGCTCCTC (n.594-4426_594-4411delinsGCTCCTCTTGCTCCTC)
c.4388+2697_4388+2712delinsGCTCCTCTTGCTCCTC (n.4388+2697_4388+2712delinsGCTCCTCTTGCTCCTC)
c.5086_5101delinsGCTCCTCTTGCTCCTC (p.Ala1696=)
c.5227_5242delinsGCTCCTCTTGCTCCTC (p.Ala1743=)
c.5221_5236delinsGCTCCTCTTGCTCCTC (p.Ala1741=)
c.4368-4426_4368-4411delinsGCTCCTCTTGCTCCTC (n.4368-4426_4368-4411delinsGCTCCTCTTGCTCCTC)
n.6300_6315delinsGCTCCTCTTGCTCCTC
n.6291_6306delinsGCTCCTCTTGCTCCTC
10g.53822432_53822440dupCA658823180PCDH15c.4409+2704_4409+2712dup (n.4409+2704_4409+2712dup)
c.5294_5302dup (p.Pro1767_Pro1768insLeuAlaPro)
c.4388+4961_4388+4969dup (n.4388+4961_4388+4969dup)
c.3227-2202_3227-2194dup
c.4368-2202_4368-2194dup (n.4368-2202_4368-2194dup)
c.5300_5308dup (p.Pro1769_Pro1770insLeuAlaPro)
c.*3249_*3257dup (n.*3249_*3257dup)
c.5315_5323dup (p.Pro1774_Pro1775insLeuAlaPro)
c.4373+2704_4373+2712dup (n.4373+2704_4373+2712dup)
c.5285_5293dup (p.Pro1764_Pro1765insLeuAlaPro)
c.5174_5182dup (p.Pro1727_Pro1728insLeuAlaPro)
c.5225_5233dup (p.Pro1744_Pro1745insLeuAlaPro)
c.4371+4960_4371+4968dup (n.4371+4960_4371+4968dup)
c.1306-12886_1306-12878dup (n.1306-12886_1306-12878dup)
c.1099-12886_1099-12878dup (n.1099-12886_1099-12878dup)
c.2092-12886_2092-12878dup (n.2092-12886_2092-12878dup)
c.3206+2704_3206+2712dup (n.3206+2704_3206+2712dup)
c.*447+4961_*447+4969dup (n.*447+4961_*447+4969dup)
c.4370+4961_4370+4969dup (n.4370+4961_4370+4969dup)
c.5087_5095dup (p.Pro1698_Pro1699insLeuAlaPro)
c.*3255_*3263dup (n.*3255_*3263dup)
n.2313_2321dup
c.462-4419_462-4411dup (n.462-4419_462-4411dup)
c.4406+4961_4406+4969dup (n.4406+4961_4406+4969dup)
c.4385+4961_4385+4969dup (n.4385+4961_4385+4969dup)
c.4367+4961_4367+4969dup (n.4367+4961_4367+4969dup)
c.5321_5329dup (p.Pro1776_Pro1777insLeuAlaPro)
c.594-4419_594-4411dup (n.594-4419_594-4411dup)
c.4388+2704_4388+2712dup (n.4388+2704_4388+2712dup)
c.5093_5101dup (p.Pro1700_Pro1701insLeuAlaPro)
c.5234_5242dup (p.Pro1747_Pro1748insLeuAlaPro)
c.5228_5236dup (p.Pro1745_Pro1746insLeuAlaPro)
c.4368-4419_4368-4411dup (n.4368-4419_4368-4411dup)
n.6307_6315dup
n.6298_6306dup
 ClinVar dbSNP
10g.53822432_53822440delCA180271PCDH15c.4409+2704_4409+2712del (n.4409+2704_4409+2712del)
c.5294_5302del (p.Leu1765_Pro1767del)
c.4388+4961_4388+4969del (n.4388+4961_4388+4969del)
c.3227-2202_3227-2194del
c.4368-2202_4368-2194del (n.4368-2202_4368-2194del)
c.5300_5308del (p.Leu1767_Pro1769del)
c.*3249_*3257del (n.*3249_*3257del)
c.5315_5323del (p.Leu1772_Pro1774del)
c.4373+2704_4373+2712del (n.4373+2704_4373+2712del)
c.5285_5293del (p.Leu1762_Pro1764del)
c.5174_5182del (p.Leu1725_Pro1727del)
c.5225_5233del (p.Leu1742_Pro1744del)
c.4371+4960_4371+4968del (n.4371+4960_4371+4968del)
c.1306-12886_1306-12878del (n.1306-12886_1306-12878del)
c.1099-12886_1099-12878del (n.1099-12886_1099-12878del)
c.2092-12886_2092-12878del (n.2092-12886_2092-12878del)
c.3206+2704_3206+2712del (n.3206+2704_3206+2712del)
c.*447+4961_*447+4969del (n.*447+4961_*447+4969del)
c.4370+4961_4370+4969del (n.4370+4961_4370+4969del)
c.5087_5095del (p.Leu1696_Pro1698del)
c.*3255_*3263del (n.*3255_*3263del)
n.2313_2321del
c.462-4419_462-4411del (n.462-4419_462-4411del)
c.4406+4961_4406+4969del (n.4406+4961_4406+4969del)
c.4385+4961_4385+4969del (n.4385+4961_4385+4969del)
c.4367+4961_4367+4969del (n.4367+4961_4367+4969del)
c.5321_5329del (p.Leu1774_Pro1776del)
c.594-4419_594-4411del (n.594-4419_594-4411del)
c.4388+2704_4388+2712del (n.4388+2704_4388+2712del)
c.5093_5101del (p.Leu1698_Pro1700del)
c.5234_5242del (p.Leu1745_Pro1747del)
c.5228_5236del (p.Leu1743_Pro1745del)
c.4368-4419_4368-4411del (n.4368-4419_4368-4411del)
n.6307_6315del
n.6298_6306del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53822432_53822446delCA5505073PCDH15c.4409+2697_4409+2711del (n.4409+2697_4409+2711del)
c.5287_5301del (p.Ala1763_Pro1767del)
c.4388+4954_4388+4968del (n.4388+4954_4388+4968del)
c.3227-2209_3227-2195del
c.4368-2209_4368-2195del (n.4368-2209_4368-2195del)
c.5293_5307del (p.Ala1765_Pro1769del)
c.*3242_*3256del (n.*3242_*3256del)
c.5308_5322del (p.Ala1770_Pro1774del)
c.4373+2697_4373+2711del (n.4373+2697_4373+2711del)
c.5278_5292del (p.Ala1760_Pro1764del)
c.5167_5181del (p.Ala1723_Pro1727del)
c.5218_5232del (p.Ala1740_Pro1744del)
c.4371+4953_4371+4967del (n.4371+4953_4371+4967del)
c.1306-12893_1306-12879del (n.1306-12893_1306-12879del)
c.1099-12893_1099-12879del (n.1099-12893_1099-12879del)
c.2092-12893_2092-12879del (n.2092-12893_2092-12879del)
c.3206+2697_3206+2711del (n.3206+2697_3206+2711del)
c.*447+4954_*447+4968del (n.*447+4954_*447+4968del)
c.4370+4954_4370+4968del (n.4370+4954_4370+4968del)
c.5080_5094del (p.Ala1694_Pro1698del)
c.*3248_*3262del (n.*3248_*3262del)
n.2306_2320del
c.462-4426_462-4412del (n.462-4426_462-4412del)
c.4406+4954_4406+4968del (n.4406+4954_4406+4968del)
c.4385+4954_4385+4968del (n.4385+4954_4385+4968del)
c.4367+4954_4367+4968del (n.4367+4954_4367+4968del)
c.5314_5328del (p.Ala1772_Pro1776del)
c.594-4426_594-4412del (n.594-4426_594-4412del)
c.4388+2697_4388+2711del (n.4388+2697_4388+2711del)
c.5086_5100del (p.Ala1696_Pro1700del)
c.5227_5241del (p.Ala1743_Pro1747del)
c.5221_5235del (p.Ala1741_Pro1745del)
c.4368-4426_4368-4412del (n.4368-4426_4368-4412del)
n.6300_6314del
n.6291_6305del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53822427_53822445delinsGAGCAAGAGGAGCAGGAGCCA1910738778PCDH15c.4409+2691_4409+2709delinsGCTCCTGCTCCTCTTGCTC (n.4409+2691_4409+2709delinsGCTCCTGCTCCTCTTGCTC)
c.5281_5299delinsGCTCCTGCTCCTCTTGCTC (p.Ala1761=)
c.4388+4948_4388+4966delinsGCTCCTGCTCCTCTTGCTC (n.4388+4948_4388+4966delinsGCTCCTGCTCCTCTTGCTC)
c.3227-2215_3227-2197delinsGCTCCTGCTCCTCTTGCTC
c.4368-2215_4368-2197delinsGCTCCTGCTCCTCTTGCTC (n.4368-2215_4368-2197delinsGCTCCTGCTCCTCTTGCTC)
c.5287_5305delinsGCTCCTGCTCCTCTTGCTC (p.Ala1763=)
c.*3236_*3254delinsGCTCCTGCTCCTCTTGCTC (n.*3236_*3254delinsGCTCCTGCTCCTCTTGCTC)
c.5302_5320delinsGCTCCTGCTCCTCTTGCTC (p.Ala1768=)
c.4373+2691_4373+2709delinsGCTCCTGCTCCTCTTGCTC (n.4373+2691_4373+2709delinsGCTCCTGCTCCTCTTGCTC)
c.5272_5290delinsGCTCCTGCTCCTCTTGCTC (p.Ala1758=)
c.5161_5179delinsGCTCCTGCTCCTCTTGCTC (p.Ala1721=)
c.5212_5230delinsGCTCCTGCTCCTCTTGCTC (p.Ala1738=)
c.4371+4947_4371+4965delinsGCTCCTGCTCCTCTTGCTC (n.4371+4947_4371+4965delinsGCTCCTGCTCCTCTTGCTC)
c.1306-12899_1306-12881delinsGCTCCTGCTCCTCTTGCTC (n.1306-12899_1306-12881delinsGCTCCTGCTCCTCTTGCTC)
c.1099-12899_1099-12881delinsGCTCCTGCTCCTCTTGCTC (n.1099-12899_1099-12881delinsGCTCCTGCTCCTCTTGCTC)
c.2092-12899_2092-12881delinsGCTCCTGCTCCTCTTGCTC (n.2092-12899_2092-12881delinsGCTCCTGCTCCTCTTGCTC)
c.3206+2691_3206+2709delinsGCTCCTGCTCCTCTTGCTC (n.3206+2691_3206+2709delinsGCTCCTGCTCCTCTTGCTC)
c.*447+4948_*447+4966delinsGCTCCTGCTCCTCTTGCTC (n.*447+4948_*447+4966delinsGCTCCTGCTCCTCTTGCTC)
c.4370+4948_4370+4966delinsGCTCCTGCTCCTCTTGCTC (n.4370+4948_4370+4966delinsGCTCCTGCTCCTCTTGCTC)
c.5074_5092delinsGCTCCTGCTCCTCTTGCTC (p.Ala1692=)
c.*3242_*3260delinsGCTCCTGCTCCTCTTGCTC (n.*3242_*3260delinsGCTCCTGCTCCTCTTGCTC)
n.2300_2318delinsGCTCCTGCTCCTCTTGCTC
c.462-4432_462-4414delinsGCTCCTGCTCCTCTTGCTC (n.462-4432_462-4414delinsGCTCCTGCTCCTCTTGCTC)
c.4406+4948_4406+4966delinsGCTCCTGCTCCTCTTGCTC (n.4406+4948_4406+4966delinsGCTCCTGCTCCTCTTGCTC)
c.4385+4948_4385+4966delinsGCTCCTGCTCCTCTTGCTC (n.4385+4948_4385+4966delinsGCTCCTGCTCCTCTTGCTC)
c.4367+4948_4367+4966delinsGCTCCTGCTCCTCTTGCTC (n.4367+4948_4367+4966delinsGCTCCTGCTCCTCTTGCTC)
c.5308_5326delinsGCTCCTGCTCCTCTTGCTC (p.Ala1770=)
c.594-4432_594-4414delinsGCTCCTGCTCCTCTTGCTC (n.594-4432_594-4414delinsGCTCCTGCTCCTCTTGCTC)
c.4388+2691_4388+2709delinsGCTCCTGCTCCTCTTGCTC (n.4388+2691_4388+2709delinsGCTCCTGCTCCTCTTGCTC)
c.5080_5098delinsGCTCCTGCTCCTCTTGCTC (p.Ala1694=)
c.5221_5239delinsGCTCCTGCTCCTCTTGCTC (p.Ala1741=)
c.5215_5233delinsGCTCCTGCTCCTCTTGCTC (p.Ala1739=)
c.4368-4432_4368-4414delinsGCTCCTGCTCCTCTTGCTC (n.4368-4432_4368-4414delinsGCTCCTGCTCCTCTTGCTC)
n.6294_6312delinsGCTCCTGCTCCTCTTGCTC
n.6285_6303delinsGCTCCTGCTCCTCTTGCTC
10g.53822430_53822447delCA593783013PCDH15c.4409+2691_4409+2708del (n.4409+2691_4409+2708del)
c.5281_5298del (p.Ala1761_Ala1766del)
c.4388+4948_4388+4965del (n.4388+4948_4388+4965del)
c.3227-2215_3227-2198del
c.4368-2215_4368-2198del (n.4368-2215_4368-2198del)
c.5287_5304del (p.Ala1763_Ala1768del)
c.*3236_*3253del (n.*3236_*3253del)
c.5302_5319del (p.Ala1768_Ala1773del)
c.4373+2691_4373+2708del (n.4373+2691_4373+2708del)
c.5272_5289del (p.Ala1758_Ala1763del)
c.5161_5178del (p.Ala1721_Ala1726del)
c.5212_5229del (p.Ala1738_Ala1743del)
c.4371+4947_4371+4964del (n.4371+4947_4371+4964del)
c.1306-12899_1306-12882del (n.1306-12899_1306-12882del)
c.1099-12899_1099-12882del (n.1099-12899_1099-12882del)
c.2092-12899_2092-12882del (n.2092-12899_2092-12882del)
c.3206+2691_3206+2708del (n.3206+2691_3206+2708del)
c.*447+4948_*447+4965del (n.*447+4948_*447+4965del)
c.4370+4948_4370+4965del (n.4370+4948_4370+4965del)
c.5074_5091del (p.Ala1692_Ala1697del)
c.*3242_*3259del (n.*3242_*3259del)
n.2300_2317del
c.462-4432_462-4415del (n.462-4432_462-4415del)
c.4406+4948_4406+4965del (n.4406+4948_4406+4965del)
c.4385+4948_4385+4965del (n.4385+4948_4385+4965del)
c.4367+4948_4367+4965del (n.4367+4948_4367+4965del)
c.5308_5325del (p.Ala1770_Ala1775del)
c.594-4432_594-4415del (n.594-4432_594-4415del)
c.4388+2691_4388+2708del (n.4388+2691_4388+2708del)
c.5080_5097del (p.Ala1694_Ala1699del)
c.5221_5238del (p.Ala1741_Ala1746del)
c.5215_5232del (p.Ala1739_Ala1744del)
c.4368-4432_4368-4415del (n.4368-4432_4368-4415del)
n.6294_6311del
n.6285_6302del
 dbSNP gnomAD v2 gnomAD v4
10g.53822429_53822432delinsGCAACA1910738787PCDH15c.4409+2704_4409+2707delinsTTGC (n.4409+2704_4409+2707delinsTTGC)
c.5294_5297delinsTTGC (p.Leu1765=)
c.4388+4961_4388+4964delinsTTGC (n.4388+4961_4388+4964delinsTTGC)
c.3227-2202_3227-2199delinsTTGC
c.4368-2202_4368-2199delinsTTGC (n.4368-2202_4368-2199delinsTTGC)
c.5300_5303delinsTTGC (p.Leu1767=)
c.*3249_*3252delinsTTGC (n.*3249_*3252delinsTTGC)
c.5315_5318delinsTTGC (p.Leu1772=)
c.4373+2704_4373+2707delinsTTGC (n.4373+2704_4373+2707delinsTTGC)
c.5285_5288delinsTTGC (p.Leu1762=)
c.5174_5177delinsTTGC (p.Leu1725=)
c.5225_5228delinsTTGC (p.Leu1742=)
c.4371+4960_4371+4963delinsTTGC (n.4371+4960_4371+4963delinsTTGC)
c.1306-12886_1306-12883delinsTTGC (n.1306-12886_1306-12883delinsTTGC)
c.1099-12886_1099-12883delinsTTGC (n.1099-12886_1099-12883delinsTTGC)
c.2092-12886_2092-12883delinsTTGC (n.2092-12886_2092-12883delinsTTGC)
c.3206+2704_3206+2707delinsTTGC (n.3206+2704_3206+2707delinsTTGC)
c.*447+4961_*447+4964delinsTTGC (n.*447+4961_*447+4964delinsTTGC)
c.4370+4961_4370+4964delinsTTGC (n.4370+4961_4370+4964delinsTTGC)
c.5087_5090delinsTTGC (p.Leu1696=)
c.*3255_*3258delinsTTGC (n.*3255_*3258delinsTTGC)
n.2313_2316delinsTTGC
c.462-4419_462-4416delinsTTGC (n.462-4419_462-4416delinsTTGC)
c.4406+4961_4406+4964delinsTTGC (n.4406+4961_4406+4964delinsTTGC)
c.4385+4961_4385+4964delinsTTGC (n.4385+4961_4385+4964delinsTTGC)
c.4367+4961_4367+4964delinsTTGC (n.4367+4961_4367+4964delinsTTGC)
c.5321_5324delinsTTGC (p.Leu1774=)
c.594-4419_594-4416delinsTTGC (n.594-4419_594-4416delinsTTGC)
c.4388+2704_4388+2707delinsTTGC (n.4388+2704_4388+2707delinsTTGC)
c.5093_5096delinsTTGC (p.Leu1698=)
c.5234_5237delinsTTGC (p.Leu1745=)
c.5228_5231delinsTTGC (p.Leu1743=)
c.4368-4419_4368-4416delinsTTGC (n.4368-4419_4368-4416delinsTTGC)
n.6307_6310delinsTTGC
n.6298_6301delinsTTGC
10g.53822430_53822432delCA207219222PCDH15c.4409+2704_4409+2706del (n.4409+2704_4409+2706del)
c.5294_5296del (p.Leu1765_Ala1766delinsPro)
c.4388+4961_4388+4963del (n.4388+4961_4388+4963del)
c.3227-2202_3227-2200del
c.4368-2202_4368-2200del (n.4368-2202_4368-2200del)
c.5300_5302del (p.Leu1767_Ala1768delinsPro)
c.*3249_*3251del (n.*3249_*3251del)
c.5315_5317del (p.Leu1772_Ala1773delinsPro)
c.4373+2704_4373+2706del (n.4373+2704_4373+2706del)
c.5285_5287del (p.Leu1762_Ala1763delinsPro)
c.5174_5176del (p.Leu1725_Ala1726delinsPro)
c.5225_5227del (p.Leu1742_Ala1743delinsPro)
c.4371+4960_4371+4962del (n.4371+4960_4371+4962del)
c.1306-12886_1306-12884del (n.1306-12886_1306-12884del)
c.1099-12886_1099-12884del (n.1099-12886_1099-12884del)
c.2092-12886_2092-12884del (n.2092-12886_2092-12884del)
c.3206+2704_3206+2706del (n.3206+2704_3206+2706del)
c.*447+4961_*447+4963del (n.*447+4961_*447+4963del)
c.4370+4961_4370+4963del (n.4370+4961_4370+4963del)
c.5087_5089del (p.Leu1696_Ala1697delinsPro)
c.*3255_*3257del (n.*3255_*3257del)
n.2313_2315del
c.462-4419_462-4417del (n.462-4419_462-4417del)
c.4406+4961_4406+4963del (n.4406+4961_4406+4963del)
c.4385+4961_4385+4963del (n.4385+4961_4385+4963del)
c.4367+4961_4367+4963del (n.4367+4961_4367+4963del)
c.5321_5323del (p.Leu1774_Ala1775delinsPro)
c.594-4419_594-4417del (n.594-4419_594-4417del)
c.4388+2704_4388+2706del (n.4388+2704_4388+2706del)
c.5093_5095del (p.Leu1698_Ala1699delinsPro)
c.5234_5236del (p.Leu1745_Ala1746delinsPro)
c.5228_5230del (p.Leu1743_Ala1744delinsPro)
c.4368-4419_4368-4417del (n.4368-4419_4368-4417del)
n.6307_6309del
n.6298_6300del
 dbSNP
10g.53822430_53822433delinsCAAGCA1910738799PCDH15c.4409+2703_4409+2706delinsCTTG (n.4409+2703_4409+2706delinsCTTG)
c.5293_5296delinsCTTG (p.Leu1765=)
c.4388+4960_4388+4963delinsCTTG (n.4388+4960_4388+4963delinsCTTG)
c.3227-2203_3227-2200delinsCTTG
c.4368-2203_4368-2200delinsCTTG (n.4368-2203_4368-2200delinsCTTG)
c.5299_5302delinsCTTG (p.Leu1767=)
c.*3248_*3251delinsCTTG (n.*3248_*3251delinsCTTG)
c.5314_5317delinsCTTG (p.Leu1772=)
c.4373+2703_4373+2706delinsCTTG (n.4373+2703_4373+2706delinsCTTG)
c.5284_5287delinsCTTG (p.Leu1762=)
c.5173_5176delinsCTTG (p.Leu1725=)
c.5224_5227delinsCTTG (p.Leu1742=)
c.4371+4959_4371+4962delinsCTTG (n.4371+4959_4371+4962delinsCTTG)
c.1306-12887_1306-12884delinsCTTG (n.1306-12887_1306-12884delinsCTTG)
c.1099-12887_1099-12884delinsCTTG (n.1099-12887_1099-12884delinsCTTG)
c.2092-12887_2092-12884delinsCTTG (n.2092-12887_2092-12884delinsCTTG)
c.3206+2703_3206+2706delinsCTTG (n.3206+2703_3206+2706delinsCTTG)
c.*447+4960_*447+4963delinsCTTG (n.*447+4960_*447+4963delinsCTTG)
c.4370+4960_4370+4963delinsCTTG (n.4370+4960_4370+4963delinsCTTG)
c.5086_5089delinsCTTG (p.Leu1696=)
c.*3254_*3257delinsCTTG (n.*3254_*3257delinsCTTG)
n.2312_2315delinsCTTG
c.462-4420_462-4417delinsCTTG (n.462-4420_462-4417delinsCTTG)
c.4406+4960_4406+4963delinsCTTG (n.4406+4960_4406+4963delinsCTTG)
c.4385+4960_4385+4963delinsCTTG (n.4385+4960_4385+4963delinsCTTG)
c.4367+4960_4367+4963delinsCTTG (n.4367+4960_4367+4963delinsCTTG)
c.5320_5323delinsCTTG (p.Leu1774=)
c.594-4420_594-4417delinsCTTG (n.594-4420_594-4417delinsCTTG)
c.4388+2703_4388+2706delinsCTTG (n.4388+2703_4388+2706delinsCTTG)
c.5092_5095delinsCTTG (p.Leu1698=)
c.5233_5236delinsCTTG (p.Leu1745=)
c.5227_5230delinsCTTG (p.Leu1743=)
c.4368-4420_4368-4417delinsCTTG (n.4368-4420_4368-4417delinsCTTG)
n.6306_6309delinsCTTG
n.6297_6300delinsCTTG
10g.53822430_53822436delinsCAAGAGGCA1910738795PCDH15c.4409+2700_4409+2706delinsCCTCTTG (n.4409+2700_4409+2706delinsCCTCTTG)
c.5290_5296delinsCCTCTTG (p.Pro1764=)
c.4388+4957_4388+4963delinsCCTCTTG (n.4388+4957_4388+4963delinsCCTCTTG)
c.3227-2206_3227-2200delinsCCTCTTG
c.4368-2206_4368-2200delinsCCTCTTG (n.4368-2206_4368-2200delinsCCTCTTG)
c.5296_5302delinsCCTCTTG (p.Pro1766=)
c.*3245_*3251delinsCCTCTTG (n.*3245_*3251delinsCCTCTTG)
c.5311_5317delinsCCTCTTG (p.Pro1771=)
c.4373+2700_4373+2706delinsCCTCTTG (n.4373+2700_4373+2706delinsCCTCTTG)
c.5281_5287delinsCCTCTTG (p.Pro1761=)
c.5170_5176delinsCCTCTTG (p.Pro1724=)
c.5221_5227delinsCCTCTTG (p.Pro1741=)
c.4371+4956_4371+4962delinsCCTCTTG (n.4371+4956_4371+4962delinsCCTCTTG)
c.1306-12890_1306-12884delinsCCTCTTG (n.1306-12890_1306-12884delinsCCTCTTG)
c.1099-12890_1099-12884delinsCCTCTTG (n.1099-12890_1099-12884delinsCCTCTTG)
c.2092-12890_2092-12884delinsCCTCTTG (n.2092-12890_2092-12884delinsCCTCTTG)
c.3206+2700_3206+2706delinsCCTCTTG (n.3206+2700_3206+2706delinsCCTCTTG)
c.*447+4957_*447+4963delinsCCTCTTG (n.*447+4957_*447+4963delinsCCTCTTG)
c.4370+4957_4370+4963delinsCCTCTTG (n.4370+4957_4370+4963delinsCCTCTTG)
c.5083_5089delinsCCTCTTG (p.Pro1695=)
c.*3251_*3257delinsCCTCTTG (n.*3251_*3257delinsCCTCTTG)
n.2309_2315delinsCCTCTTG
c.462-4423_462-4417delinsCCTCTTG (n.462-4423_462-4417delinsCCTCTTG)
c.4406+4957_4406+4963delinsCCTCTTG (n.4406+4957_4406+4963delinsCCTCTTG)
c.4385+4957_4385+4963delinsCCTCTTG (n.4385+4957_4385+4963delinsCCTCTTG)
c.4367+4957_4367+4963delinsCCTCTTG (n.4367+4957_4367+4963delinsCCTCTTG)
c.5317_5323delinsCCTCTTG (p.Pro1773=)
c.594-4423_594-4417delinsCCTCTTG (n.594-4423_594-4417delinsCCTCTTG)
c.4388+2700_4388+2706delinsCCTCTTG (n.4388+2700_4388+2706delinsCCTCTTG)
c.5089_5095delinsCCTCTTG (p.Pro1697=)
c.5230_5236delinsCCTCTTG (p.Pro1744=)
c.5224_5230delinsCCTCTTG (p.Pro1742=)
c.4368-4423_4368-4417delinsCCTCTTG (n.4368-4423_4368-4417delinsCCTCTTG)
n.6303_6309delinsCCTCTTG
n.6294_6300delinsCCTCTTG
10g.53822430_53822448delinsCAAGAGGAGCAGGAGCAGGCA1910738804PCDH15c.4409+2688_4409+2706delinsCCTGCTCCTGCTCCTCTTG (n.4409+2688_4409+2706delinsCCTGCTCCTGCTCCTCTTG)
c.5278_5296delinsCCTGCTCCTGCTCCTCTTG (p.Pro1760=)
c.4388+4945_4388+4963delinsCCTGCTCCTGCTCCTCTTG (n.4388+4945_4388+4963delinsCCTGCTCCTGCTCCTCTTG)
c.3227-2218_3227-2200delinsCCTGCTCCTGCTCCTCTTG
c.4368-2218_4368-2200delinsCCTGCTCCTGCTCCTCTTG (n.4368-2218_4368-2200delinsCCTGCTCCTGCTCCTCTTG)
c.5284_5302delinsCCTGCTCCTGCTCCTCTTG (p.Pro1762=)
c.*3233_*3251delinsCCTGCTCCTGCTCCTCTTG (n.*3233_*3251delinsCCTGCTCCTGCTCCTCTTG)
c.5299_5317delinsCCTGCTCCTGCTCCTCTTG (p.Pro1767=)
c.4373+2688_4373+2706delinsCCTGCTCCTGCTCCTCTTG (n.4373+2688_4373+2706delinsCCTGCTCCTGCTCCTCTTG)
c.5269_5287delinsCCTGCTCCTGCTCCTCTTG (p.Pro1757=)
c.5158_5176delinsCCTGCTCCTGCTCCTCTTG (p.Pro1720=)
c.5209_5227delinsCCTGCTCCTGCTCCTCTTG (p.Pro1737=)
c.4371+4944_4371+4962delinsCCTGCTCCTGCTCCTCTTG (n.4371+4944_4371+4962delinsCCTGCTCCTGCTCCTCTTG)
c.1306-12902_1306-12884delinsCCTGCTCCTGCTCCTCTTG (n.1306-12902_1306-12884delinsCCTGCTCCTGCTCCTCTTG)
c.1099-12902_1099-12884delinsCCTGCTCCTGCTCCTCTTG (n.1099-12902_1099-12884delinsCCTGCTCCTGCTCCTCTTG)
c.2092-12902_2092-12884delinsCCTGCTCCTGCTCCTCTTG (n.2092-12902_2092-12884delinsCCTGCTCCTGCTCCTCTTG)
c.3206+2688_3206+2706delinsCCTGCTCCTGCTCCTCTTG (n.3206+2688_3206+2706delinsCCTGCTCCTGCTCCTCTTG)
c.*447+4945_*447+4963delinsCCTGCTCCTGCTCCTCTTG (n.*447+4945_*447+4963delinsCCTGCTCCTGCTCCTCTTG)
c.4370+4945_4370+4963delinsCCTGCTCCTGCTCCTCTTG (n.4370+4945_4370+4963delinsCCTGCTCCTGCTCCTCTTG)
c.5071_5089delinsCCTGCTCCTGCTCCTCTTG (p.Pro1691=)
c.*3239_*3257delinsCCTGCTCCTGCTCCTCTTG (n.*3239_*3257delinsCCTGCTCCTGCTCCTCTTG)
n.2297_2315delinsCCTGCTCCTGCTCCTCTTG
c.462-4435_462-4417delinsCCTGCTCCTGCTCCTCTTG (n.462-4435_462-4417delinsCCTGCTCCTGCTCCTCTTG)
c.4406+4945_4406+4963delinsCCTGCTCCTGCTCCTCTTG (n.4406+4945_4406+4963delinsCCTGCTCCTGCTCCTCTTG)
c.4385+4945_4385+4963delinsCCTGCTCCTGCTCCTCTTG (n.4385+4945_4385+4963delinsCCTGCTCCTGCTCCTCTTG)
c.4367+4945_4367+4963delinsCCTGCTCCTGCTCCTCTTG (n.4367+4945_4367+4963delinsCCTGCTCCTGCTCCTCTTG)
c.5305_5323delinsCCTGCTCCTGCTCCTCTTG (p.Pro1769=)
c.594-4435_594-4417delinsCCTGCTCCTGCTCCTCTTG (n.594-4435_594-4417delinsCCTGCTCCTGCTCCTCTTG)
c.4388+2688_4388+2706delinsCCTGCTCCTGCTCCTCTTG (n.4388+2688_4388+2706delinsCCTGCTCCTGCTCCTCTTG)
c.5077_5095delinsCCTGCTCCTGCTCCTCTTG (p.Pro1693=)
c.5218_5236delinsCCTGCTCCTGCTCCTCTTG (p.Pro1740=)
c.5212_5230delinsCCTGCTCCTGCTCCTCTTG (p.Pro1738=)
c.4368-4435_4368-4417delinsCCTGCTCCTGCTCCTCTTG (n.4368-4435_4368-4417delinsCCTGCTCCTGCTCCTCTTG)
n.6291_6309delinsCCTGCTCCTGCTCCTCTTG
n.6282_6300delinsCCTGCTCCTGCTCCTCTTG
10g.53822430_53822457delCA912970191PCDH15c.4409+2679_4409+2706del (n.4409+2679_4409+2706del)
c.5269_5296del (p.Ser1757LeufsTer?)
c.4388+4936_4388+4963del (n.4388+4936_4388+4963del)
c.3227-2227_3227-2200del
c.4368-2227_4368-2200del (n.4368-2227_4368-2200del)
c.5275_5302del (p.Ser1759LeufsTer?)
c.*3224_*3251del (n.*3224_*3251del)
c.5290_5317del (p.Ser1764LeufsTer?)
c.4373+2679_4373+2706del (n.4373+2679_4373+2706del)
c.5260_5287del (p.Ser1754LeufsTer?)
c.5149_5176del (p.Ser1717LeufsTer?)
c.5200_5227del (p.Ser1734LeufsTer?)
c.4371+4935_4371+4962del (n.4371+4935_4371+4962del)
c.1306-12911_1306-12884del (n.1306-12911_1306-12884del)
c.1099-12911_1099-12884del (n.1099-12911_1099-12884del)
c.2092-12911_2092-12884del (n.2092-12911_2092-12884del)
c.3206+2679_3206+2706del (n.3206+2679_3206+2706del)
c.*447+4936_*447+4963del (n.*447+4936_*447+4963del)
c.4370+4936_4370+4963del (n.4370+4936_4370+4963del)
c.5062_5089del (p.Ser1688LeufsTer?)
c.*3230_*3257del (n.*3230_*3257del)
n.2288_2315del
c.462-4444_462-4417del (n.462-4444_462-4417del)
c.4406+4936_4406+4963del (n.4406+4936_4406+4963del)
c.4385+4936_4385+4963del (n.4385+4936_4385+4963del)
c.4367+4936_4367+4963del (n.4367+4936_4367+4963del)
c.5296_5323del (p.Ser1766LeufsTer?)
c.594-4444_594-4417del (n.594-4444_594-4417del)
c.4388+2679_4388+2706del (n.4388+2679_4388+2706del)
c.5068_5095del (p.Ser1690LeufsTer?)
c.5209_5236del (p.Ser1737LeufsTer?)
c.5203_5230del (p.Ser1735LeufsTer?)
c.4368-4444_4368-4417del (n.4368-4444_4368-4417del)
n.6282_6309del
n.6273_6300del
10g.53822430_53822457delinsCAAGAGGAGCAGGAGCAGGAGGAGGAGACA1910738794PCDH15c.4409+2679_4409+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4409+2679_4409+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5269_5296delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1757=)
c.4388+4936_4388+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4388+4936_4388+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.3227-2227_3227-2200delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG
c.4368-2227_4368-2200delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4368-2227_4368-2200delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5275_5302delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1759=)
c.*3224_*3251delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.*3224_*3251delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5290_5317delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1764=)
c.4373+2679_4373+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4373+2679_4373+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5260_5287delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1754=)
c.5149_5176delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1717=)
c.5200_5227delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1734=)
c.4371+4935_4371+4962delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4371+4935_4371+4962delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.1306-12911_1306-12884delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.1306-12911_1306-12884delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.1099-12911_1099-12884delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.1099-12911_1099-12884delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.2092-12911_2092-12884delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.2092-12911_2092-12884delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.3206+2679_3206+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.3206+2679_3206+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.*447+4936_*447+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.*447+4936_*447+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.4370+4936_4370+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4370+4936_4370+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5062_5089delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1688=)
c.*3230_*3257delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.*3230_*3257delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
n.2288_2315delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG
c.462-4444_462-4417delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.462-4444_462-4417delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.4406+4936_4406+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4406+4936_4406+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.4385+4936_4385+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4385+4936_4385+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.4367+4936_4367+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4367+4936_4367+4963delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5296_5323delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1766=)
c.594-4444_594-4417delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.594-4444_594-4417delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.4388+2679_4388+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4388+2679_4388+2706delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
c.5068_5095delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1690=)
c.5209_5236delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1737=)
c.5203_5230delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (p.Ser1735=)
c.4368-4444_4368-4417delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG (n.4368-4444_4368-4417delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG)
n.6282_6309delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG
n.6273_6300delinsTCTCCTCCTCCTGCTCCTGCTCCTCTTG
10g.53822432_53822434delCA593783014PCDH15c.4409+2703_4409+2705del (n.4409+2703_4409+2705del)
c.5293_5295del (p.Leu1765del)
c.4388+4960_4388+4962del (n.4388+4960_4388+4962del)
c.3227-2203_3227-2201del
c.4368-2203_4368-2201del (n.4368-2203_4368-2201del)
c.5299_5301del (p.Leu1767del)
c.*3248_*3250del (n.*3248_*3250del)
c.5314_5316del (p.Leu1772del)
c.4373+2703_4373+2705del (n.4373+2703_4373+2705del)
c.5284_5286del (p.Leu1762del)
c.5173_5175del (p.Leu1725del)
c.5224_5226del (p.Leu1742del)
c.4371+4959_4371+4961del (n.4371+4959_4371+4961del)
c.1306-12887_1306-12885del (n.1306-12887_1306-12885del)
c.1099-12887_1099-12885del (n.1099-12887_1099-12885del)
c.2092-12887_2092-12885del (n.2092-12887_2092-12885del)
c.3206+2703_3206+2705del (n.3206+2703_3206+2705del)
c.*447+4960_*447+4962del (n.*447+4960_*447+4962del)
c.4370+4960_4370+4962del (n.4370+4960_4370+4962del)
c.5086_5088del (p.Leu1696del)
c.*3254_*3256del (n.*3254_*3256del)
n.2312_2314del
c.462-4420_462-4418del (n.462-4420_462-4418del)
c.4406+4960_4406+4962del (n.4406+4960_4406+4962del)
c.4385+4960_4385+4962del (n.4385+4960_4385+4962del)
c.4367+4960_4367+4962del (n.4367+4960_4367+4962del)
c.5320_5322del (p.Leu1774del)
c.594-4420_594-4418del (n.594-4420_594-4418del)
c.4388+2703_4388+2705del (n.4388+2703_4388+2705del)
c.5092_5094del (p.Leu1698del)
c.5233_5235del (p.Leu1745del)
c.5227_5229del (p.Leu1743del)
c.4368-4420_4368-4418del (n.4368-4420_4368-4418del)
n.6306_6308del
n.6297_6299del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53822432_53822437delCA666466207PCDH15c.4409+2700_4409+2705del (n.4409+2700_4409+2705del)
c.5290_5295del (p.Pro1764_Leu1765del)
c.4388+4957_4388+4962del (n.4388+4957_4388+4962del)
c.3227-2206_3227-2201del
c.4368-2206_4368-2201del (n.4368-2206_4368-2201del)
c.5296_5301del (p.Pro1766_Leu1767del)
c.*3245_*3250del (n.*3245_*3250del)
c.5311_5316del (p.Pro1771_Leu1772del)
c.4373+2700_4373+2705del (n.4373+2700_4373+2705del)
c.5281_5286del (p.Pro1761_Leu1762del)
c.5170_5175del (p.Pro1724_Leu1725del)
c.5221_5226del (p.Pro1741_Leu1742del)
c.4371+4956_4371+4961del (n.4371+4956_4371+4961del)
c.1306-12890_1306-12885del (n.1306-12890_1306-12885del)
c.1099-12890_1099-12885del (n.1099-12890_1099-12885del)
c.2092-12890_2092-12885del (n.2092-12890_2092-12885del)
c.3206+2700_3206+2705del (n.3206+2700_3206+2705del)
c.*447+4957_*447+4962del (n.*447+4957_*447+4962del)
c.4370+4957_4370+4962del (n.4370+4957_4370+4962del)
c.5083_5088del (p.Pro1695_Leu1696del)
c.*3251_*3256del (n.*3251_*3256del)
n.2309_2314del
c.462-4423_462-4418del (n.462-4423_462-4418del)
c.4406+4957_4406+4962del (n.4406+4957_4406+4962del)
c.4385+4957_4385+4962del (n.4385+4957_4385+4962del)
c.4367+4957_4367+4962del (n.4367+4957_4367+4962del)
c.5317_5322del (p.Pro1773_Leu1774del)
c.594-4423_594-4418del (n.594-4423_594-4418del)
c.4388+2700_4388+2705del (n.4388+2700_4388+2705del)
c.5089_5094del (p.Pro1697_Leu1698del)
c.5230_5235del (p.Pro1744_Leu1745del)
c.5224_5229del (p.Pro1742_Leu1743del)
c.4368-4423_4368-4418del (n.4368-4423_4368-4418del)
n.6303_6308del
n.6294_6299del
 ClinVar dbSNP
10g.53822432_53822449delCA593783015PCDH15c.4409+2688_4409+2705del (n.4409+2688_4409+2705del)
c.5278_5295del (p.Pro1760_Leu1765del)
c.4388+4945_4388+4962del (n.4388+4945_4388+4962del)
c.3227-2218_3227-2201del
c.4368-2218_4368-2201del (n.4368-2218_4368-2201del)
c.5284_5301del (p.Pro1762_Leu1767del)
c.*3233_*3250del (n.*3233_*3250del)
c.5299_5316del (p.Pro1767_Leu1772del)
c.4373+2688_4373+2705del (n.4373+2688_4373+2705del)
c.5269_5286del (p.Pro1757_Leu1762del)
c.5158_5175del (p.Pro1720_Leu1725del)
c.5209_5226del (p.Pro1737_Leu1742del)
c.4371+4944_4371+4961del (n.4371+4944_4371+4961del)
c.1306-12902_1306-12885del (n.1306-12902_1306-12885del)
c.1099-12902_1099-12885del (n.1099-12902_1099-12885del)
c.2092-12902_2092-12885del (n.2092-12902_2092-12885del)
c.3206+2688_3206+2705del (n.3206+2688_3206+2705del)
c.*447+4945_*447+4962del (n.*447+4945_*447+4962del)
c.4370+4945_4370+4962del (n.4370+4945_4370+4962del)
c.5071_5088del (p.Pro1691_Leu1696del)
c.*3239_*3256del (n.*3239_*3256del)
n.2297_2314del
c.462-4435_462-4418del (n.462-4435_462-4418del)
c.4406+4945_4406+4962del (n.4406+4945_4406+4962del)
c.4385+4945_4385+4962del (n.4385+4945_4385+4962del)
c.4367+4945_4367+4962del (n.4367+4945_4367+4962del)
c.5305_5322del (p.Pro1769_Leu1774del)
c.594-4435_594-4418del (n.594-4435_594-4418del)
c.4388+2688_4388+2705del (n.4388+2688_4388+2705del)
c.5077_5094del (p.Pro1693_Leu1698del)
c.5218_5235del (p.Pro1740_Leu1745del)
c.5212_5229del (p.Pro1738_Leu1743del)
c.4368-4435_4368-4418del (n.4368-4435_4368-4418del)
n.6291_6308del
n.6282_6299del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53822432_53822458delCA207219228PCDH15c.4409+2679_4409+2705del (n.4409+2679_4409+2705del)
c.5269_5295del (p.Ser1757_Leu1765del)
c.4388+4936_4388+4962del (n.4388+4936_4388+4962del)
c.3227-2227_3227-2201del
c.4368-2227_4368-2201del (n.4368-2227_4368-2201del)
c.5275_5301del (p.Ser1759_Leu1767del)
c.*3224_*3250del (n.*3224_*3250del)
c.5290_5316del (p.Ser1764_Leu1772del)
c.4373+2679_4373+2705del (n.4373+2679_4373+2705del)
c.5260_5286del (p.Ser1754_Leu1762del)
c.5149_5175del (p.Ser1717_Leu1725del)
c.5200_5226del (p.Ser1734_Leu1742del)
c.4371+4935_4371+4961del (n.4371+4935_4371+4961del)
c.1306-12911_1306-12885del (n.1306-12911_1306-12885del)
c.1099-12911_1099-12885del (n.1099-12911_1099-12885del)
c.2092-12911_2092-12885del (n.2092-12911_2092-12885del)
c.3206+2679_3206+2705del (n.3206+2679_3206+2705del)
c.*447+4936_*447+4962del (n.*447+4936_*447+4962del)
c.4370+4936_4370+4962del (n.4370+4936_4370+4962del)
c.5062_5088del (p.Ser1688_Leu1696del)
c.*3230_*3256del (n.*3230_*3256del)
n.2288_2314del
c.462-4444_462-4418del (n.462-4444_462-4418del)
c.4406+4936_4406+4962del (n.4406+4936_4406+4962del)
c.4385+4936_4385+4962del (n.4385+4936_4385+4962del)
c.4367+4936_4367+4962del (n.4367+4936_4367+4962del)
c.5296_5322del (p.Ser1766_Leu1774del)
c.594-4444_594-4418del (n.594-4444_594-4418del)
c.4388+2679_4388+2705del (n.4388+2679_4388+2705del)
c.5068_5094del (p.Ser1690_Leu1698del)
c.5209_5235del (p.Ser1737_Leu1745del)
c.5203_5229del (p.Ser1735_Leu1743del)
c.4368-4444_4368-4418del (n.4368-4444_4368-4418del)
n.6282_6308del
n.6273_6299del
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.53822432A=CA1910738818PCDH15c.4409+2704T= (n.4409+2704T=)
c.5294T= (p.Leu1765=)
c.4388+4961T= (n.4388+4961T=)
c.3227-2202T=
c.4368-2202T= (n.4368-2202T=)
c.5300T= (p.Leu1767=)
c.*3249T= (n.*3249T=)
c.5315T= (p.Leu1772=)
c.4373+2704T= (n.4373+2704T=)
c.5285T= (p.Leu1762=)
c.5174T= (p.Leu1725=)
c.5225T= (p.Leu1742=)
c.4371+4960T= (n.4371+4960T=)
c.1306-12886T= (n.1306-12886T=)
c.1099-12886T= (n.1099-12886T=)
c.2092-12886T= (n.2092-12886T=)
c.3206+2704T= (n.3206+2704T=)
c.*447+4961T= (n.*447+4961T=)
c.4370+4961T= (n.4370+4961T=)
c.5087T= (p.Leu1696=)
c.*3255T= (n.*3255T=)
n.2313T=
c.462-4419T= (n.462-4419T=)
c.4406+4961T= (n.4406+4961T=)
c.4385+4961T= (n.4385+4961T=)
c.4367+4961T= (n.4367+4961T=)
c.5321T= (p.Leu1774=)
c.594-4419T= (n.594-4419T=)
c.4388+2704T= (n.4388+2704T=)
c.5093T= (p.Leu1698=)
c.5234T= (p.Leu1745=)
c.5228T= (p.Leu1743=)
c.4368-4419T= (n.4368-4419T=)
n.6307T=
n.6298T=
10g.53822432A>CCA376525219PCDH15c.4409+2704T>G (n.4409+2704T>G)
c.5294T>G (p.Leu1765Arg)
c.4388+4961T>G (n.4388+4961T>G)
c.3227-2202T>G
c.4368-2202T>G (n.4368-2202T>G)
c.5300T>G (p.Leu1767Arg)
c.*3249T>G (n.*3249T>G)
c.5315T>G (p.Leu1772Arg)
c.4373+2704T>G (n.4373+2704T>G)
c.5285T>G (p.Leu1762Arg)
c.5174T>G (p.Leu1725Arg)
c.5225T>G (p.Leu1742Arg)
c.4371+4960T>G (n.4371+4960T>G)
c.1306-12886T>G (n.1306-12886T>G)
c.1099-12886T>G (n.1099-12886T>G)
c.2092-12886T>G (n.2092-12886T>G)
c.3206+2704T>G (n.3206+2704T>G)
c.*447+4961T>G (n.*447+4961T>G)
c.4370+4961T>G (n.4370+4961T>G)
c.5087T>G (p.Leu1696Arg)
c.*3255T>G (n.*3255T>G)
n.2313T>G
c.462-4419T>G (n.462-4419T>G)
c.4406+4961T>G (n.4406+4961T>G)
c.4385+4961T>G (n.4385+4961T>G)
c.4367+4961T>G (n.4367+4961T>G)
c.5321T>G (p.Leu1774Arg)
c.594-4419T>G (n.594-4419T>G)
c.4388+2704T>G (n.4388+2704T>G)
c.5093T>G (p.Leu1698Arg)
c.5234T>G (p.Leu1745Arg)
c.5228T>G (p.Leu1743Arg)
c.4368-4419T>G (n.4368-4419T>G)
n.6307T>G
n.6298T>G
10g.53822432A>GCA376525220PCDH15c.4409+2704T>C (n.4409+2704T>C)
c.5294T>C (p.Leu1765Pro)
c.4388+4961T>C (n.4388+4961T>C)
c.3227-2202T>C
c.4368-2202T>C (n.4368-2202T>C)
c.5300T>C (p.Leu1767Pro)
c.*3249T>C (n.*3249T>C)
c.5315T>C (p.Leu1772Pro)
c.4373+2704T>C (n.4373+2704T>C)
c.5285T>C (p.Leu1762Pro)
c.5174T>C (p.Leu1725Pro)
c.5225T>C (p.Leu1742Pro)
c.4371+4960T>C (n.4371+4960T>C)
c.1306-12886T>C (n.1306-12886T>C)
c.1099-12886T>C (n.1099-12886T>C)
c.2092-12886T>C (n.2092-12886T>C)
c.3206+2704T>C (n.3206+2704T>C)
c.*447+4961T>C (n.*447+4961T>C)
c.4370+4961T>C (n.4370+4961T>C)
c.5087T>C (p.Leu1696Pro)
c.*3255T>C (n.*3255T>C)
n.2313T>C
c.462-4419T>C (n.462-4419T>C)
c.4406+4961T>C (n.4406+4961T>C)
c.4385+4961T>C (n.4385+4961T>C)
c.4367+4961T>C (n.4367+4961T>C)
c.5321T>C (p.Leu1774Pro)
c.594-4419T>C (n.594-4419T>C)
c.4388+2704T>C (n.4388+2704T>C)
c.5093T>C (p.Leu1698Pro)
c.5234T>C (p.Leu1745Pro)
c.5228T>C (p.Leu1743Pro)
c.4368-4419T>C (n.4368-4419T>C)
n.6307T>C
n.6298T>C
 dbSNP gnomAD v4
10g.53822432A>TCA376525221PCDH15c.4409+2704T>A (n.4409+2704T>A)
c.5294T>A (p.Leu1765His)
c.4388+4961T>A (n.4388+4961T>A)
c.3227-2202T>A
c.4368-2202T>A (n.4368-2202T>A)
c.5300T>A (p.Leu1767His)
c.*3249T>A (n.*3249T>A)
c.5315T>A (p.Leu1772His)
c.4373+2704T>A (n.4373+2704T>A)
c.5285T>A (p.Leu1762His)
c.5174T>A (p.Leu1725His)
c.5225T>A (p.Leu1742His)
c.4371+4960T>A (n.4371+4960T>A)
c.1306-12886T>A (n.1306-12886T>A)
c.1099-12886T>A (n.1099-12886T>A)
c.2092-12886T>A (n.2092-12886T>A)
c.3206+2704T>A (n.3206+2704T>A)
c.*447+4961T>A (n.*447+4961T>A)
c.4370+4961T>A (n.4370+4961T>A)
c.5087T>A (p.Leu1696His)
c.*3255T>A (n.*3255T>A)
n.2313T>A
c.462-4419T>A (n.462-4419T>A)
c.4406+4961T>A (n.4406+4961T>A)
c.4385+4961T>A (n.4385+4961T>A)
c.4367+4961T>A (n.4367+4961T>A)
c.5321T>A (p.Leu1774His)
c.594-4419T>A (n.594-4419T>A)
c.4388+2704T>A (n.4388+2704T>A)
c.5093T>A (p.Leu1698His)
c.5234T>A (p.Leu1745His)
c.5228T>A (p.Leu1743His)
c.4368-4419T>A (n.4368-4419T>A)
n.6307T>A
n.6298T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.53822432_53822447delinsAGAGGAGCAGGAGCAGCA1910738825PCDH15c.4409+2689_4409+2704delinsCTGCTCCTGCTCCTCT (n.4409+2689_4409+2704delinsCTGCTCCTGCTCCTCT)
c.5279_5294delinsCTGCTCCTGCTCCTCT (p.Pro1760=)
c.4388+4946_4388+4961delinsCTGCTCCTGCTCCTCT (n.4388+4946_4388+4961delinsCTGCTCCTGCTCCTCT)
c.3227-2217_3227-2202delinsCTGCTCCTGCTCCTCT
c.4368-2217_4368-2202delinsCTGCTCCTGCTCCTCT (n.4368-2217_4368-2202delinsCTGCTCCTGCTCCTCT)
c.5285_5300delinsCTGCTCCTGCTCCTCT (p.Pro1762=)
c.*3234_*3249delinsCTGCTCCTGCTCCTCT (n.*3234_*3249delinsCTGCTCCTGCTCCTCT)
c.5300_5315delinsCTGCTCCTGCTCCTCT (p.Pro1767=)
c.4373+2689_4373+2704delinsCTGCTCCTGCTCCTCT (n.4373+2689_4373+2704delinsCTGCTCCTGCTCCTCT)
c.5270_5285delinsCTGCTCCTGCTCCTCT (p.Pro1757=)
c.5159_5174delinsCTGCTCCTGCTCCTCT (p.Pro1720=)
c.5210_5225delinsCTGCTCCTGCTCCTCT (p.Pro1737=)
c.4371+4945_4371+4960delinsCTGCTCCTGCTCCTCT (n.4371+4945_4371+4960delinsCTGCTCCTGCTCCTCT)
c.1306-12901_1306-12886delinsCTGCTCCTGCTCCTCT (n.1306-12901_1306-12886delinsCTGCTCCTGCTCCTCT)
c.1099-12901_1099-12886delinsCTGCTCCTGCTCCTCT (n.1099-12901_1099-12886delinsCTGCTCCTGCTCCTCT)
c.2092-12901_2092-12886delinsCTGCTCCTGCTCCTCT (n.2092-12901_2092-12886delinsCTGCTCCTGCTCCTCT)
c.3206+2689_3206+2704delinsCTGCTCCTGCTCCTCT (n.3206+2689_3206+2704delinsCTGCTCCTGCTCCTCT)
c.*447+4946_*447+4961delinsCTGCTCCTGCTCCTCT (n.*447+4946_*447+4961delinsCTGCTCCTGCTCCTCT)
c.4370+4946_4370+4961delinsCTGCTCCTGCTCCTCT (n.4370+4946_4370+4961delinsCTGCTCCTGCTCCTCT)
c.5072_5087delinsCTGCTCCTGCTCCTCT (p.Pro1691=)
c.*3240_*3255delinsCTGCTCCTGCTCCTCT (n.*3240_*3255delinsCTGCTCCTGCTCCTCT)
n.2298_2313delinsCTGCTCCTGCTCCTCT
c.462-4434_462-4419delinsCTGCTCCTGCTCCTCT (n.462-4434_462-4419delinsCTGCTCCTGCTCCTCT)
c.4406+4946_4406+4961delinsCTGCTCCTGCTCCTCT (n.4406+4946_4406+4961delinsCTGCTCCTGCTCCTCT)
c.4385+4946_4385+4961delinsCTGCTCCTGCTCCTCT (n.4385+4946_4385+4961delinsCTGCTCCTGCTCCTCT)
c.4367+4946_4367+4961delinsCTGCTCCTGCTCCTCT (n.4367+4946_4367+4961delinsCTGCTCCTGCTCCTCT)
c.5306_5321delinsCTGCTCCTGCTCCTCT (p.Pro1769=)
c.594-4434_594-4419delinsCTGCTCCTGCTCCTCT (n.594-4434_594-4419delinsCTGCTCCTGCTCCTCT)
c.4388+2689_4388+2704delinsCTGCTCCTGCTCCTCT (n.4388+2689_4388+2704delinsCTGCTCCTGCTCCTCT)
c.5078_5093delinsCTGCTCCTGCTCCTCT (p.Pro1693=)
c.5219_5234delinsCTGCTCCTGCTCCTCT (p.Pro1740=)
c.5213_5228delinsCTGCTCCTGCTCCTCT (p.Pro1738=)
c.4368-4434_4368-4419delinsCTGCTCCTGCTCCTCT (n.4368-4434_4368-4419delinsCTGCTCCTGCTCCTCT)
n.6292_6307delinsCTGCTCCTGCTCCTCT
n.6283_6298delinsCTGCTCCTGCTCCTCT
10g.53822432_53822450delinsAGAGGAGCAGGAGCAGGAGCA1910738817PCDH15c.4409+2686_4409+2704delinsCTCCTGCTCCTGCTCCTCT (n.4409+2686_4409+2704delinsCTCCTGCTCCTGCTCCTCT)
c.5276_5294delinsCTCCTGCTCCTGCTCCTCT (p.Pro1759=)
c.4388+4943_4388+4961delinsCTCCTGCTCCTGCTCCTCT (n.4388+4943_4388+4961delinsCTCCTGCTCCTGCTCCTCT)
c.3227-2220_3227-2202delinsCTCCTGCTCCTGCTCCTCT
c.4368-2220_4368-2202delinsCTCCTGCTCCTGCTCCTCT (n.4368-2220_4368-2202delinsCTCCTGCTCCTGCTCCTCT)
c.5282_5300delinsCTCCTGCTCCTGCTCCTCT (p.Pro1761=)
c.*3231_*3249delinsCTCCTGCTCCTGCTCCTCT (n.*3231_*3249delinsCTCCTGCTCCTGCTCCTCT)
c.5297_5315delinsCTCCTGCTCCTGCTCCTCT (p.Pro1766=)
c.4373+2686_4373+2704delinsCTCCTGCTCCTGCTCCTCT (n.4373+2686_4373+2704delinsCTCCTGCTCCTGCTCCTCT)
c.5267_5285delinsCTCCTGCTCCTGCTCCTCT (p.Pro1756=)
c.5156_5174delinsCTCCTGCTCCTGCTCCTCT (p.Pro1719=)
c.5207_5225delinsCTCCTGCTCCTGCTCCTCT (p.Pro1736=)
c.4371+4942_4371+4960delinsCTCCTGCTCCTGCTCCTCT (n.4371+4942_4371+4960delinsCTCCTGCTCCTGCTCCTCT)
c.1306-12904_1306-12886delinsCTCCTGCTCCTGCTCCTCT (n.1306-12904_1306-12886delinsCTCCTGCTCCTGCTCCTCT)
c.1099-12904_1099-12886delinsCTCCTGCTCCTGCTCCTCT (n.1099-12904_1099-12886delinsCTCCTGCTCCTGCTCCTCT)
c.2092-12904_2092-12886delinsCTCCTGCTCCTGCTCCTCT (n.2092-12904_2092-12886delinsCTCCTGCTCCTGCTCCTCT)
c.3206+2686_3206+2704delinsCTCCTGCTCCTGCTCCTCT (n.3206+2686_3206+2704delinsCTCCTGCTCCTGCTCCTCT)
c.*447+4943_*447+4961delinsCTCCTGCTCCTGCTCCTCT (n.*447+4943_*447+4961delinsCTCCTGCTCCTGCTCCTCT)
c.4370+4943_4370+4961delinsCTCCTGCTCCTGCTCCTCT (n.4370+4943_4370+4961delinsCTCCTGCTCCTGCTCCTCT)
c.5069_5087delinsCTCCTGCTCCTGCTCCTCT (p.Pro1690=)
c.*3237_*3255delinsCTCCTGCTCCTGCTCCTCT (n.*3237_*3255delinsCTCCTGCTCCTGCTCCTCT)
n.2295_2313delinsCTCCTGCTCCTGCTCCTCT
c.462-4437_462-4419delinsCTCCTGCTCCTGCTCCTCT (n.462-4437_462-4419delinsCTCCTGCTCCTGCTCCTCT)
c.4406+4943_4406+4961delinsCTCCTGCTCCTGCTCCTCT (n.4406+4943_4406+4961delinsCTCCTGCTCCTGCTCCTCT)
c.4385+4943_4385+4961delinsCTCCTGCTCCTGCTCCTCT (n.4385+4943_4385+4961delinsCTCCTGCTCCTGCTCCTCT)
c.4367+4943_4367+4961delinsCTCCTGCTCCTGCTCCTCT (n.4367+4943_4367+4961delinsCTCCTGCTCCTGCTCCTCT)
c.5303_5321delinsCTCCTGCTCCTGCTCCTCT (p.Pro1768=)
c.594-4437_594-4419delinsCTCCTGCTCCTGCTCCTCT (n.594-4437_594-4419delinsCTCCTGCTCCTGCTCCTCT)
c.4388+2686_4388+2704delinsCTCCTGCTCCTGCTCCTCT (n.4388+2686_4388+2704delinsCTCCTGCTCCTGCTCCTCT)
c.5075_5093delinsCTCCTGCTCCTGCTCCTCT (p.Pro1692=)
c.5216_5234delinsCTCCTGCTCCTGCTCCTCT (p.Pro1739=)
c.5210_5228delinsCTCCTGCTCCTGCTCCTCT (p.Pro1737=)
c.4368-4437_4368-4419delinsCTCCTGCTCCTGCTCCTCT (n.4368-4437_4368-4419delinsCTCCTGCTCCTGCTCCTCT)
n.6289_6307delinsCTCCTGCTCCTGCTCCTCT
n.6280_6298delinsCTCCTGCTCCTGCTCCTCT
10g.53822435_53822499dupCA2573145197PCDH15c.4409+2640_4409+2704dup (n.4409+2640_4409+2704dup)
c.5230_5294dup (p.Ala1766ProfsTer?)
c.4388+4897_4388+4961dup (n.4388+4897_4388+4961dup)
c.3227-2266_3227-2202dup
c.4368-2266_4368-2202dup (n.4368-2266_4368-2202dup)
c.5236_5300dup (p.Ala1768ProfsTer?)
c.*3185_*3249dup (n.*3185_*3249dup)
c.5251_5315dup (p.Ala1773ProfsTer?)
c.4373+2640_4373+2704dup (n.4373+2640_4373+2704dup)
c.5221_5285dup (p.Ala1763ProfsTer?)
c.5110_5174dup (p.Ala1726ProfsTer?)
c.5161_5225dup (p.Ala1743ProfsTer?)
c.4371+4896_4371+4960dup (n.4371+4896_4371+4960dup)
c.1306-12950_1306-12886dup (n.1306-12950_1306-12886dup)
c.1099-12950_1099-12886dup (n.1099-12950_1099-12886dup)
c.2092-12950_2092-12886dup (n.2092-12950_2092-12886dup)
c.3206+2640_3206+2704dup (n.3206+2640_3206+2704dup)
c.*447+4897_*447+4961dup (n.*447+4897_*447+4961dup)
c.4370+4897_4370+4961dup (n.4370+4897_4370+4961dup)
c.5023_5087dup (p.Ala1697ProfsTer?)
c.*3191_*3255dup (n.*3191_*3255dup)
n.2249_2313dup
c.462-4483_462-4419dup (n.462-4483_462-4419dup)
c.4406+4897_4406+4961dup (n.4406+4897_4406+4961dup)
c.4385+4897_4385+4961dup (n.4385+4897_4385+4961dup)
c.4367+4897_4367+4961dup (n.4367+4897_4367+4961dup)
c.5257_5321dup (p.Ala1775ProfsTer?)
c.594-4483_594-4419dup (n.594-4483_594-4419dup)
c.4388+2640_4388+2704dup (n.4388+2640_4388+2704dup)
c.5029_5093dup (p.Ala1699ProfsTer?)
c.5170_5234dup (p.Ala1746ProfsTer?)
c.5164_5228dup (p.Ala1744ProfsTer?)
c.4368-4483_4368-4419dup (n.4368-4483_4368-4419dup)
n.6243_6307dup
n.6234_6298dup
 ClinVar dbSNP
10g.53822433G>ACA376525222PCDH15c.4409+2703C>T (n.4409+2703C>T)
c.5293C>T (p.Leu1765Phe)
c.4388+4960C>T (n.4388+4960C>T)
c.3227-2203C>T
c.4368-2203C>T (n.4368-2203C>T)
c.5299C>T (p.Leu1767Phe)
c.*3248C>T (n.*3248C>T)
c.5314C>T (p.Leu1772Phe)
c.4373+2703C>T (n.4373+2703C>T)
c.5284C>T (p.Leu1762Phe)
c.5173C>T (p.Leu1725Phe)
c.5224C>T (p.Leu1742Phe)
c.4371+4959C>T (n.4371+4959C>T)
c.1306-12887C>T (n.1306-12887C>T)
c.1099-12887C>T (n.1099-12887C>T)
c.2092-12887C>T (n.2092-12887C>T)
c.3206+2703C>T (n.3206+2703C>T)
c.*447+4960C>T (n.*447+4960C>T)
c.4370+4960C>T (n.4370+4960C>T)
c.5086C>T (p.Leu1696Phe)
c.*3254C>T (n.*3254C>T)
n.2312C>T
c.462-4420C>T (n.462-4420C>T)
c.4406+4960C>T (n.4406+4960C>T)
c.4385+4960C>T (n.4385+4960C>T)
c.4367+4960C>T (n.4367+4960C>T)
c.5320C>T (p.Leu1774Phe)
c.594-4420C>T (n.594-4420C>T)
c.4388+2703C>T (n.4388+2703C>T)
c.5092C>T (p.Leu1698Phe)
c.5233C>T (p.Leu1745Phe)
c.5227C>T (p.Leu1743Phe)
c.4368-4420C>T (n.4368-4420C>T)
n.6306C>T
n.6297C>T
10g.53822433G>CCA376525223PCDH15c.4409+2703C>G (n.4409+2703C>G)
c.5293C>G (p.Leu1765Val)
c.4388+4960C>G (n.4388+4960C>G)
c.3227-2203C>G
c.4368-2203C>G (n.4368-2203C>G)
c.5299C>G (p.Leu1767Val)
c.*3248C>G (n.*3248C>G)
c.5314C>G (p.Leu1772Val)
c.4373+2703C>G (n.4373+2703C>G)
c.5284C>G (p.Leu1762Val)
c.5173C>G (p.Leu1725Val)
c.5224C>G (p.Leu1742Val)
c.4371+4959C>G (n.4371+4959C>G)
c.1306-12887C>G (n.1306-12887C>G)
c.1099-12887C>G (n.1099-12887C>G)
c.2092-12887C>G (n.2092-12887C>G)
c.3206+2703C>G (n.3206+2703C>G)
c.*447+4960C>G (n.*447+4960C>G)
c.4370+4960C>G (n.4370+4960C>G)
c.5086C>G (p.Leu1696Val)
c.*3254C>G (n.*3254C>G)
n.2312C>G
c.462-4420C>G (n.462-4420C>G)
c.4406+4960C>G (n.4406+4960C>G)
c.4385+4960C>G (n.4385+4960C>G)
c.4367+4960C>G (n.4367+4960C>G)
c.5320C>G (p.Leu1774Val)
c.594-4420C>G (n.594-4420C>G)
c.4388+2703C>G (n.4388+2703C>G)
c.5092C>G (p.Leu1698Val)
c.5233C>G (p.Leu1745Val)
c.5227C>G (p.Leu1743Val)
c.4368-4420C>G (n.4368-4420C>G)
n.6306C>G
n.6297C>G
10g.53822433G>TCA376525224PCDH15c.4409+2703C>A (n.4409+2703C>A)
c.5293C>A (p.Leu1765Ile)
c.4388+4960C>A (n.4388+4960C>A)
c.3227-2203C>A
c.4368-2203C>A (n.4368-2203C>A)
c.5299C>A (p.Leu1767Ile)
c.*3248C>A (n.*3248C>A)
c.5314C>A (p.Leu1772Ile)
c.4373+2703C>A (n.4373+2703C>A)
c.5284C>A (p.Leu1762Ile)
c.5173C>A (p.Leu1725Ile)
c.5224C>A (p.Leu1742Ile)
c.4371+4959C>A (n.4371+4959C>A)
c.1306-12887C>A (n.1306-12887C>A)
c.1099-12887C>A (n.1099-12887C>A)
c.2092-12887C>A (n.2092-12887C>A)
c.3206+2703C>A (n.3206+2703C>A)
c.*447+4960C>A (n.*447+4960C>A)
c.4370+4960C>A (n.4370+4960C>A)
c.5086C>A (p.Leu1696Ile)
c.*3254C>A (n.*3254C>A)
n.2312C>A
c.462-4420C>A (n.462-4420C>A)
c.4406+4960C>A (n.4406+4960C>A)
c.4385+4960C>A (n.4385+4960C>A)
c.4367+4960C>A (n.4367+4960C>A)
c.5320C>A (p.Leu1774Ile)
c.594-4420C>A (n.594-4420C>A)
c.4388+2703C>A (n.4388+2703C>A)
c.5092C>A (p.Leu1698Ile)
c.5233C>A (p.Leu1745Ile)
c.5227C>A (p.Leu1743Ile)
c.4368-4420C>A (n.4368-4420C>A)
n.6306C>A
n.6297C>A
10g.53822433_53822445delinsGAGGAGCAGGAGCCA1910738830PCDH15c.4409+2691_4409+2703delinsGCTCCTGCTCCTC (n.4409+2691_4409+2703delinsGCTCCTGCTCCTC)
c.5281_5293delinsGCTCCTGCTCCTC (p.Ala1761=)
c.4388+4948_4388+4960delinsGCTCCTGCTCCTC (n.4388+4948_4388+4960delinsGCTCCTGCTCCTC)
c.3227-2215_3227-2203delinsGCTCCTGCTCCTC
c.4368-2215_4368-2203delinsGCTCCTGCTCCTC (n.4368-2215_4368-2203delinsGCTCCTGCTCCTC)
c.5287_5299delinsGCTCCTGCTCCTC (p.Ala1763=)
c.*3236_*3248delinsGCTCCTGCTCCTC (n.*3236_*3248delinsGCTCCTGCTCCTC)
c.5302_5314delinsGCTCCTGCTCCTC (p.Ala1768=)
c.4373+2691_4373+2703delinsGCTCCTGCTCCTC (n.4373+2691_4373+2703delinsGCTCCTGCTCCTC)
c.5272_5284delinsGCTCCTGCTCCTC (p.Ala1758=)
c.5161_5173delinsGCTCCTGCTCCTC (p.Ala1721=)
c.5212_5224delinsGCTCCTGCTCCTC (p.Ala1738=)
c.4371+4947_4371+4959delinsGCTCCTGCTCCTC (n.4371+4947_4371+4959delinsGCTCCTGCTCCTC)
c.1306-12899_1306-12887delinsGCTCCTGCTCCTC (n.1306-12899_1306-12887delinsGCTCCTGCTCCTC)
c.1099-12899_1099-12887delinsGCTCCTGCTCCTC (n.1099-12899_1099-12887delinsGCTCCTGCTCCTC)
c.2092-12899_2092-12887delinsGCTCCTGCTCCTC (n.2092-12899_2092-12887delinsGCTCCTGCTCCTC)
c.3206+2691_3206+2703delinsGCTCCTGCTCCTC (n.3206+2691_3206+2703delinsGCTCCTGCTCCTC)
c.*447+4948_*447+4960delinsGCTCCTGCTCCTC (n.*447+4948_*447+4960delinsGCTCCTGCTCCTC)
c.4370+4948_4370+4960delinsGCTCCTGCTCCTC (n.4370+4948_4370+4960delinsGCTCCTGCTCCTC)
c.5074_5086delinsGCTCCTGCTCCTC (p.Ala1692=)
c.*3242_*3254delinsGCTCCTGCTCCTC (n.*3242_*3254delinsGCTCCTGCTCCTC)
n.2300_2312delinsGCTCCTGCTCCTC
c.462-4432_462-4420delinsGCTCCTGCTCCTC (n.462-4432_462-4420delinsGCTCCTGCTCCTC)
c.4406+4948_4406+4960delinsGCTCCTGCTCCTC (n.4406+4948_4406+4960delinsGCTCCTGCTCCTC)
c.4385+4948_4385+4960delinsGCTCCTGCTCCTC (n.4385+4948_4385+4960delinsGCTCCTGCTCCTC)
c.4367+4948_4367+4960delinsGCTCCTGCTCCTC (n.4367+4948_4367+4960delinsGCTCCTGCTCCTC)
c.5308_5320delinsGCTCCTGCTCCTC (p.Ala1770=)
c.594-4432_594-4420delinsGCTCCTGCTCCTC (n.594-4432_594-4420delinsGCTCCTGCTCCTC)
c.4388+2691_4388+2703delinsGCTCCTGCTCCTC (n.4388+2691_4388+2703delinsGCTCCTGCTCCTC)
c.5080_5092delinsGCTCCTGCTCCTC (p.Ala1694=)
c.5221_5233delinsGCTCCTGCTCCTC (p.Ala1741=)
c.5215_5227delinsGCTCCTGCTCCTC (p.Ala1739=)
c.4368-4432_4368-4420delinsGCTCCTGCTCCTC (n.4368-4432_4368-4420delinsGCTCCTGCTCCTC)
n.6294_6306delinsGCTCCTGCTCCTC
n.6285_6297delinsGCTCCTGCTCCTC
10g.53822439_53822453delCA1910738828PCDH15c.4409+2689_4409+2703del (n.4409+2689_4409+2703del)
c.5279_5293del (p.Pro1760_Pro1764del)
c.4388+4946_4388+4960del (n.4388+4946_4388+4960del)
c.3227-2217_3227-2203del
c.4368-2217_4368-2203del (n.4368-2217_4368-2203del)
c.5285_5299del (p.Pro1762_Pro1766del)
c.*3234_*3248del (n.*3234_*3248del)
c.5300_5314del (p.Pro1767_Pro1771del)
c.4373+2689_4373+2703del (n.4373+2689_4373+2703del)
c.5270_5284del (p.Pro1757_Pro1761del)
c.5159_5173del (p.Pro1720_Pro1724del)
c.5210_5224del (p.Pro1737_Pro1741del)
c.4371+4945_4371+4959del (n.4371+4945_4371+4959del)
c.1306-12901_1306-12887del (n.1306-12901_1306-12887del)
c.1099-12901_1099-12887del (n.1099-12901_1099-12887del)
c.2092-12901_2092-12887del (n.2092-12901_2092-12887del)
c.3206+2689_3206+2703del (n.3206+2689_3206+2703del)
c.*447+4946_*447+4960del (n.*447+4946_*447+4960del)
c.4370+4946_4370+4960del (n.4370+4946_4370+4960del)
c.5072_5086del (p.Pro1691_Pro1695del)
c.*3240_*3254del (n.*3240_*3254del)
n.2298_2312del
c.462-4434_462-4420del (n.462-4434_462-4420del)
c.4406+4946_4406+4960del (n.4406+4946_4406+4960del)
c.4385+4946_4385+4960del (n.4385+4946_4385+4960del)
c.4367+4946_4367+4960del (n.4367+4946_4367+4960del)
c.5306_5320del (p.Pro1769_Pro1773del)
c.594-4434_594-4420del (n.594-4434_594-4420del)
c.4388+2689_4388+2703del (n.4388+2689_4388+2703del)
c.5078_5092del (p.Pro1693_Pro1697del)
c.5219_5233del (p.Pro1740_Pro1744del)
c.5213_5227del (p.Pro1738_Pro1742del)
c.4368-4434_4368-4420del (n.4368-4434_4368-4420del)
n.6292_6306del
n.6283_6297del
 dbSNP gnomAD v4
10g.53822439_53822456delCA5505074PCDH15c.4409+2686_4409+2703del (n.4409+2686_4409+2703del)
c.5276_5293del (p.Pro1759_Pro1764del)
c.4388+4943_4388+4960del (n.4388+4943_4388+4960del)
c.3227-2220_3227-2203del
c.4368-2220_4368-2203del (n.4368-2220_4368-2203del)
c.5282_5299del (p.Pro1761_Pro1766del)
c.*3231_*3248del (n.*3231_*3248del)
c.5297_5314del (p.Pro1766_Pro1771del)
c.4373+2686_4373+2703del (n.4373+2686_4373+2703del)
c.5267_5284del (p.Pro1756_Pro1761del)
c.5156_5173del (p.Pro1719_Pro1724del)
c.5207_5224del (p.Pro1736_Pro1741del)
c.4371+4942_4371+4959del (n.4371+4942_4371+4959del)
c.1306-12904_1306-12887del (n.1306-12904_1306-12887del)
c.1099-12904_1099-12887del (n.1099-12904_1099-12887del)
c.2092-12904_2092-12887del (n.2092-12904_2092-12887del)
c.3206+2686_3206+2703del (n.3206+2686_3206+2703del)
c.*447+4943_*447+4960del (n.*447+4943_*447+4960del)
c.4370+4943_4370+4960del (n.4370+4943_4370+4960del)
c.5069_5086del (p.Pro1690_Pro1695del)
c.*3237_*3254del (n.*3237_*3254del)
n.2295_2312del
c.462-4437_462-4420del (n.462-4437_462-4420del)
c.4406+4943_4406+4960del (n.4406+4943_4406+4960del)
c.4385+4943_4385+4960del (n.4385+4943_4385+4960del)
c.4367+4943_4367+4960del (n.4367+4943_4367+4960del)
c.5303_5320del (p.Pro1768_Pro1773del)
c.594-4437_594-4420del (n.594-4437_594-4420del)
c.4388+2686_4388+2703del (n.4388+2686_4388+2703del)
c.5075_5092del (p.Pro1692_Pro1697del)
c.5216_5233del (p.Pro1739_Pro1744del)
c.5210_5227del (p.Pro1737_Pro1742del)
c.4368-4437_4368-4420del (n.4368-4437_4368-4420del)
n.6289_6306del
n.6280_6297del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53822434A>CCA469546685PCDH15c.4409+2702T>G (n.4409+2702T>G)
c.5292T>G (p.Pro1764=)
c.4388+4959T>G (n.4388+4959T>G)
c.3227-2204T>G
c.4368-2204T>G (n.4368-2204T>G)
c.5298T>G (p.Pro1766=)
c.*3247T>G (n.*3247T>G)
c.5313T>G (p.Pro1771=)
c.4373+2702T>G (n.4373+2702T>G)
c.5283T>G (p.Pro1761=)
c.5172T>G (p.Pro1724=)
c.5223T>G (p.Pro1741=)
c.4371+4958T>G (n.4371+4958T>G)
c.1306-12888T>G (n.1306-12888T>G)
c.1099-12888T>G (n.1099-12888T>G)
c.2092-12888T>G (n.2092-12888T>G)
c.3206+2702T>G (n.3206+2702T>G)
c.*447+4959T>G (n.*447+4959T>G)
c.4370+4959T>G (n.4370+4959T>G)
c.5085T>G (p.Pro1695=)
c.*3253T>G (n.*3253T>G)
n.2311T>G
c.462-4421T>G (n.462-4421T>G)
c.4406+4959T>G (n.4406+4959T>G)
c.4385+4959T>G (n.4385+4959T>G)
c.4367+4959T>G (n.4367+4959T>G)
c.5319T>G (p.Pro1773=)
c.594-4421T>G (n.594-4421T>G)
c.4388+2702T>G (n.4388+2702T>G)
c.5091T>G (p.Pro1697=)
c.5232T>G (p.Pro1744=)
c.5226T>G (p.Pro1742=)
c.4368-4421T>G (n.4368-4421T>G)
n.6305T>G
n.6296T>G
10g.53822434A>GCA469546684PCDH15c.4409+2702T>C (n.4409+2702T>C)
c.5292T>C (p.Pro1764=)
c.4388+4959T>C (n.4388+4959T>C)
c.3227-2204T>C
c.4368-2204T>C (n.4368-2204T>C)
c.5298T>C (p.Pro1766=)
c.*3247T>C (n.*3247T>C)
c.5313T>C (p.Pro1771=)
c.4373+2702T>C (n.4373+2702T>C)
c.5283T>C (p.Pro1761=)
c.5172T>C (p.Pro1724=)
c.5223T>C (p.Pro1741=)
c.4371+4958T>C (n.4371+4958T>C)
c.1306-12888T>C (n.1306-12888T>C)
c.1099-12888T>C (n.1099-12888T>C)
c.2092-12888T>C (n.2092-12888T>C)
c.3206+2702T>C (n.3206+2702T>C)
c.*447+4959T>C (n.*447+4959T>C)
c.4370+4959T>C (n.4370+4959T>C)
c.5085T>C (p.Pro1695=)
c.*3253T>C (n.*3253T>C)
n.2311T>C
c.462-4421T>C (n.462-4421T>C)
c.4406+4959T>C (n.4406+4959T>C)
c.4385+4959T>C (n.4385+4959T>C)
c.4367+4959T>C (n.4367+4959T>C)
c.5319T>C (p.Pro1773=)
c.594-4421T>C (n.594-4421T>C)
c.4388+2702T>C (n.4388+2702T>C)
c.5091T>C (p.Pro1697=)
c.5232T>C (p.Pro1744=)
c.5226T>C (p.Pro1742=)
c.4368-4421T>C (n.4368-4421T>C)
n.6305T>C
n.6296T>C
10g.53822434A>TCA469546683PCDH15c.4409+2702T>A (n.4409+2702T>A)
c.5292T>A (p.Pro1764=)
c.4388+4959T>A (n.4388+4959T>A)
c.3227-2204T>A
c.4368-2204T>A (n.4368-2204T>A)
c.5298T>A (p.Pro1766=)
c.*3247T>A (n.*3247T>A)
c.5313T>A (p.Pro1771=)
c.4373+2702T>A (n.4373+2702T>A)
c.5283T>A (p.Pro1761=)
c.5172T>A (p.Pro1724=)
c.5223T>A (p.Pro1741=)
c.4371+4958T>A (n.4371+4958T>A)
c.1306-12888T>A (n.1306-12888T>A)
c.1099-12888T>A (n.1099-12888T>A)
c.2092-12888T>A (n.2092-12888T>A)
c.3206+2702T>A (n.3206+2702T>A)
c.*447+4959T>A (n.*447+4959T>A)
c.4370+4959T>A (n.4370+4959T>A)
c.5085T>A (p.Pro1695=)
c.*3253T>A (n.*3253T>A)
n.2311T>A
c.462-4421T>A (n.462-4421T>A)
c.4406+4959T>A (n.4406+4959T>A)
c.4385+4959T>A (n.4385+4959T>A)
c.4367+4959T>A (n.4367+4959T>A)
c.5319T>A (p.Pro1773=)
c.594-4421T>A (n.594-4421T>A)
c.4388+2702T>A (n.4388+2702T>A)
c.5091T>A (p.Pro1697=)
c.5232T>A (p.Pro1744=)
c.5226T>A (p.Pro1742=)
c.4368-4421T>A (n.4368-4421T>A)
n.6305T>A
n.6296T>A
 ClinVar gnomAD v4
10g.53822445_53822450dupCA593783016PCDH15c.4409+2697_4409+2702dup (n.4409+2697_4409+2702dup)
c.5287_5292dup (p.Pro1764_Leu1765insAlaPro)
c.4388+4954_4388+4959dup (n.4388+4954_4388+4959dup)
c.3227-2209_3227-2204dup
c.4368-2209_4368-2204dup (n.4368-2209_4368-2204dup)
c.5293_5298dup (p.Pro1766_Leu1767insAlaPro)
c.*3242_*3247dup (n.*3242_*3247dup)
c.5308_5313dup (p.Pro1771_Leu1772insAlaPro)
c.4373+2697_4373+2702dup (n.4373+2697_4373+2702dup)
c.5278_5283dup (p.Pro1761_Leu1762insAlaPro)
c.5167_5172dup (p.Pro1724_Leu1725insAlaPro)
c.5218_5223dup (p.Pro1741_Leu1742insAlaPro)
c.4371+4953_4371+4958dup (n.4371+4953_4371+4958dup)
c.1306-12893_1306-12888dup (n.1306-12893_1306-12888dup)
c.1099-12893_1099-12888dup (n.1099-12893_1099-12888dup)
c.2092-12893_2092-12888dup (n.2092-12893_2092-12888dup)
c.3206+2697_3206+2702dup (n.3206+2697_3206+2702dup)
c.*447+4954_*447+4959dup (n.*447+4954_*447+4959dup)
c.4370+4954_4370+4959dup (n.4370+4954_4370+4959dup)
c.5080_5085dup (p.Pro1695_Leu1696insAlaPro)
c.*3248_*3253dup (n.*3248_*3253dup)
n.2306_2311dup
c.462-4426_462-4421dup (n.462-4426_462-4421dup)
c.4406+4954_4406+4959dup (n.4406+4954_4406+4959dup)
c.4385+4954_4385+4959dup (n.4385+4954_4385+4959dup)
c.4367+4954_4367+4959dup (n.4367+4954_4367+4959dup)
c.5314_5319dup (p.Pro1773_Leu1774insAlaPro)
c.594-4426_594-4421dup (n.594-4426_594-4421dup)
c.4388+2697_4388+2702dup (n.4388+2697_4388+2702dup)
c.5086_5091dup (p.Pro1697_Leu1698insAlaPro)
c.5227_5232dup (p.Pro1744_Leu1745insAlaPro)
c.5221_5226dup (p.Pro1742_Leu1743insAlaPro)
c.4368-4426_4368-4421dup (n.4368-4426_4368-4421dup)
n.6300_6305dup
n.6291_6296dup
 dbSNP gnomAD v2 gnomAD v4
10g.53822445_53822450delCA138459PCDH15c.4409+2697_4409+2702del (n.4409+2697_4409+2702del)
c.5287_5292del (p.Ala1763_Pro1764del)
c.4388+4954_4388+4959del (n.4388+4954_4388+4959del)
c.3227-2209_3227-2204del
c.4368-2209_4368-2204del (n.4368-2209_4368-2204del)
c.5293_5298del (p.Ala1765_Pro1766del)
c.*3242_*3247del (n.*3242_*3247del)
c.5308_5313del (p.Ala1770_Pro1771del)
c.4373+2697_4373+2702del (n.4373+2697_4373+2702del)
c.5278_5283del (p.Ala1760_Pro1761del)
c.5167_5172del (p.Ala1723_Pro1724del)
c.5218_5223del (p.Ala1740_Pro1741del)
c.4371+4953_4371+4958del (n.4371+4953_4371+4958del)
c.1306-12893_1306-12888del (n.1306-12893_1306-12888del)
c.1099-12893_1099-12888del (n.1099-12893_1099-12888del)
c.2092-12893_2092-12888del (n.2092-12893_2092-12888del)
c.3206+2697_3206+2702del (n.3206+2697_3206+2702del)
c.*447+4954_*447+4959del (n.*447+4954_*447+4959del)
c.4370+4954_4370+4959del (n.4370+4954_4370+4959del)
c.5080_5085del (p.Ala1694_Pro1695del)
c.*3248_*3253del (n.*3248_*3253del)
n.2306_2311del
c.462-4426_462-4421del (n.462-4426_462-4421del)
c.4406+4954_4406+4959del (n.4406+4954_4406+4959del)
c.4385+4954_4385+4959del (n.4385+4954_4385+4959del)
c.4367+4954_4367+4959del (n.4367+4954_4367+4959del)
c.5314_5319del (p.Ala1772_Pro1773del)
c.594-4426_594-4421del (n.594-4426_594-4421del)
c.4388+2697_4388+2702del (n.4388+2697_4388+2702del)
c.5086_5091del (p.Ala1696_Pro1697del)
c.5227_5232del (p.Ala1743_Pro1744del)
c.5221_5226del (p.Ala1741_Pro1742del)
c.4368-4426_4368-4421del (n.4368-4426_4368-4421del)
n.6300_6305del
n.6291_6296del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.53822439_53822450delCA5505075PCDH15c.4409+2691_4409+2702del (n.4409+2691_4409+2702del)
c.5281_5292del (p.Ala1761_Pro1764del)
c.4388+4948_4388+4959del (n.4388+4948_4388+4959del)
c.3227-2215_3227-2204del
c.4368-2215_4368-2204del (n.4368-2215_4368-2204del)
c.5287_5298del (p.Ala1763_Pro1766del)
c.*3236_*3247del (n.*3236_*3247del)
c.5302_5313del (p.Ala1768_Pro1771del)
c.4373+2691_4373+2702del (n.4373+2691_4373+2702del)
c.5272_5283del (p.Ala1758_Pro1761del)
c.5161_5172del (p.Ala1721_Pro1724del)
c.5212_5223del (p.Ala1738_Pro1741del)
c.4371+4947_4371+4958del (n.4371+4947_4371+4958del)
c.1306-12899_1306-12888del (n.1306-12899_1306-12888del)
c.1099-12899_1099-12888del (n.1099-12899_1099-12888del)
c.2092-12899_2092-12888del (n.2092-12899_2092-12888del)
c.3206+2691_3206+2702del (n.3206+2691_3206+2702del)
c.*447+4948_*447+4959del (n.*447+4948_*447+4959del)
c.4370+4948_4370+4959del (n.4370+4948_4370+4959del)
c.5074_5085del (p.Ala1692_Pro1695del)
c.*3242_*3253del (n.*3242_*3253del)
n.2300_2311del
c.462-4432_462-4421del (n.462-4432_462-4421del)
c.4406+4948_4406+4959del (n.4406+4948_4406+4959del)
c.4385+4948_4385+4959del (n.4385+4948_4385+4959del)
c.4367+4948_4367+4959del (n.4367+4948_4367+4959del)
c.5308_5319del (p.Ala1770_Pro1773del)
c.594-4432_594-4421del (n.594-4432_594-4421del)
c.4388+2691_4388+2702del (n.4388+2691_4388+2702del)
c.5080_5091del (p.Ala1694_Pro1697del)
c.5221_5232del (p.Ala1741_Pro1744del)
c.5215_5226del (p.Ala1739_Pro1742del)
c.4368-4432_4368-4421del (n.4368-4432_4368-4421del)
n.6294_6305del
n.6285_6296del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53822435G>ACA376525226PCDH15c.4409+2701C>T (n.4409+2701C>T)
c.5291C>T (p.Pro1764Leu)
c.4388+4958C>T (n.4388+4958C>T)
c.3227-2205C>T
c.4368-2205C>T (n.4368-2205C>T)
c.5297C>T (p.Pro1766Leu)
c.*3246C>T (n.*3246C>T)
c.5312C>T (p.Pro1771Leu)
c.4373+2701C>T (n.4373+2701C>T)
c.5282C>T (p.Pro1761Leu)
c.5171C>T (p.Pro1724Leu)
c.5222C>T (p.Pro1741Leu)
c.4371+4957C>T (n.4371+4957C>T)
c.1306-12889C>T (n.1306-12889C>T)
c.1099-12889C>T (n.1099-12889C>T)
c.2092-12889C>T (n.2092-12889C>T)
c.3206+2701C>T (n.3206+2701C>T)
c.*447+4958C>T (n.*447+4958C>T)
c.4370+4958C>T (n.4370+4958C>T)
c.5084C>T (p.Pro1695Leu)
c.*3252C>T (n.*3252C>T)
n.2310C>T
c.462-4422C>T (n.462-4422C>T)
c.4406+4958C>T (n.4406+4958C>T)
c.4385+4958C>T (n.4385+4958C>T)
c.4367+4958C>T (n.4367+4958C>T)
c.5318C>T (p.Pro1773Leu)
c.594-4422C>T (n.594-4422C>T)
c.4388+2701C>T (n.4388+2701C>T)
c.5090C>T (p.Pro1697Leu)
c.5231C>T (p.Pro1744Leu)
c.5225C>T (p.Pro1742Leu)
c.4368-4422C>T (n.4368-4422C>T)
n.6304C>T
n.6295C>T
 ClinVar
10g.53822435G>CCA376525225PCDH15c.4409+2701C>G (n.4409+2701C>G)
c.5291C>G (p.Pro1764Arg)
c.4388+4958C>G (n.4388+4958C>G)
c.3227-2205C>G
c.4368-2205C>G (n.4368-2205C>G)
c.5297C>G (p.Pro1766Arg)
c.*3246C>G (n.*3246C>G)
c.5312C>G (p.Pro1771Arg)
c.4373+2701C>G (n.4373+2701C>G)
c.5282C>G (p.Pro1761Arg)
c.5171C>G (p.Pro1724Arg)
c.5222C>G (p.Pro1741Arg)
c.4371+4957C>G (n.4371+4957C>G)
c.1306-12889C>G (n.1306-12889C>G)
c.1099-12889C>G (n.1099-12889C>G)
c.2092-12889C>G (n.2092-12889C>G)
c.3206+2701C>G (n.3206+2701C>G)
c.*447+4958C>G (n.*447+4958C>G)
c.4370+4958C>G (n.4370+4958C>G)
c.5084C>G (p.Pro1695Arg)
c.*3252C>G (n.*3252C>G)
n.2310C>G
c.462-4422C>G (n.462-4422C>G)
c.4406+4958C>G (n.4406+4958C>G)
c.4385+4958C>G (n.4385+4958C>G)
c.4367+4958C>G (n.4367+4958C>G)
c.5318C>G (p.Pro1773Arg)
c.594-4422C>G (n.594-4422C>G)
c.4388+2701C>G (n.4388+2701C>G)
c.5090C>G (p.Pro1697Arg)
c.5231C>G (p.Pro1744Arg)
c.5225C>G (p.Pro1742Arg)
c.4368-4422C>G (n.4368-4422C>G)
n.6304C>G
n.6295C>G

Number of alleles fetched