NC_000019.10:g.49865435_49865436del

rs749292876 
NM_007254.4(PNKP):c.*17C>T

rs374836478 
NM_007254.4(PNKP):c.11C>T

rs372465811 
NM_007254.4(PNKP):c.1319C>A

rs920231330 
NM_007254.4(PNKP):c.1320C>T

rs369527946 
NM_007254.4(PNKP):c.21G>A

rs893501652 
NM_007254.4(PNKP):c.26G>T

rs1057521745 
NM_007254.4(PNKP):c.32G>A

rs796052845 
NM_007254.4(PNKP):c.35T>C

rs550311179 
NM_007254.4(PNKP):c.3A>G

rs796052848 
NM_007254.4(PNKP):c.47C>T

rs1487640562 
NM_007254.4(PNKP):c.48T>G

rs1057520774 
NM_007254.4(PNKP):c.4C>G

rs796052847 
NM_007254.4(PNKP):c.7A>C

rs369053276 
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln)

rs780121125 
NM_007254.4(PNKP):c.1029+16G>A

rs982882766 
NM_007254.4(PNKP):c.1029+20G>T

rs1239545577 
NM_007254.4(PNKP):c.103020G>A

rs1200668101 
NM_007254.4(PNKP):c.10305C>T

rs374745816 
NM_007254.4(PNKP):c.10309C>T

rs368699840 
NM_007254.4(PNKP):c.1062C>T (p.Leu354=)

rs142830558 
NM_007254.4(PNKP):c.1065C>T (p.Pro355=)

rs569834947 
NM_007254.4(PNKP):c.1126+17T>C

rs1384026505 
NM_007254.4(PNKP):c.112712C>T

rs769293635 
NM_007254.4(PNKP):c.1140C>T (p.Thr380=)

rs780500233 
NM_007254.4(PNKP):c.1158C>G (p.Leu386=)

rs373766090 
NM_007254.4(PNKP):c.1164G>T (p.Ser388=)

rs776788871 
NM_007254.4(PNKP):c.1188+12C>T

rs780736753 
NM_007254.4(PNKP):c.1188+47C>T

rs146492255 
NM_007254.4(PNKP):c.1188+8del

rs763782151 
NM_007254.4(PNKP):c.118910G>A

rs1458942967 
NM_007254.4(PNKP):c.1233A>G (p.Thr411=)

rs1057522305 
NM_007254.4(PNKP):c.1266C>T (p.Asp422=)

rs1055603577 
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)

rs770775129 
NM_007254.4(PNKP):c.1286_1298+6dup

rs760249644 
NM_007254.4(PNKP):c.1287G>C (p.Ala429=)

rs1281900821 
NM_007254.4(PNKP):c.1298+12G>A

rs747065246 
NM_007254.4(PNKP):c.1298+20G>A

rs765634741 
NM_007254.4(PNKP):c.1298+20G>T

rs765634741 
NM_007254.4(PNKP):c.1298+2_1298+5dup

rs776617733 
NM_007254.4(PNKP):c.1298+5C>T

rs1171213214 
NM_007254.4(PNKP):c.1298+8G>C

rs1555810842 
NM_007254.4(PNKP):c.12995C>T

rs1057522419 
NM_007254.4(PNKP):c.12997C>T

rs1555810817 
NM_007254.4(PNKP):c.12999_12998delinsTT

rs1064794370 
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)

rs747244348 
NM_007254.4(PNKP):c.1320C>T (p.Ala440=)

rs565533397 
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)

rs549000007 
NM_007254.4(PNKP):c.1344C>T (p.Phe448=)

rs762529581 
NM_007254.4(PNKP):c.1386+19G>T

rs1057523595 
NM_007254.4(PNKP):c.138711G>A

rs200785744 
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser)

rs146941866 
NM_007254.4(PNKP):c.1448+13A>G

rs748882543 
NM_007254.4(PNKP):c.1448+7T>C

rs775646444 
NM_007254.4(PNKP):c.1515A>G (p.Leu505=)

rs369748873 
NM_007254.4(PNKP):c.178C>A (p.Arg60=)

rs761948305 
NM_007254.4(PNKP):c.198+9G>A

rs370222304 
NM_007254.4(PNKP):c.19915C>T

rs201254691 
NM_007254.4(PNKP):c.199C>T (p.Leu67=)

rs1038434528 
NM_007254.4(PNKP):c.243G>A (p.Pro81=)

rs1057520480 
NM_007254.4(PNKP):c.24C>T (p.Gly8=)

rs1057522863 
NM_007254.4(PNKP):c.291T>C (p.Asn97=)

rs1555811608 
NM_007254.4(PNKP):c.357G>A (p.Pro119=)

rs766826936 
NM_007254.4(PNKP):c.381A>G (p.Gln127=)

rs139679798 
NM_007254.4(PNKP):c.403C>T (p.Leu135=)

rs766739774 
NM_007254.4(PNKP):c.408G>A (p.Pro136=)

rs770822417 
NM_007254.4(PNKP):c.408G>T (p.Pro136=)

rs770822417 
NM_007254.4(PNKP):c.416G>A (p.Arg139His)

rs34472250 
NM_007254.4(PNKP):c.498+233G>T

rs79622873 
NM_007254.4(PNKP):c.552C>T (p.Val184=)

rs369818814 
NM_007254.4(PNKP):c.57918G>A

rs199541652 
NM_007254.4(PNKP):c.57919C>T

rs368764301 
NM_007254.4(PNKP):c.5794G>A

rs371834726 
NM_007254.4(PNKP):c.585G>A (p.Leu195=)

rs770100322 
NM_007254.4(PNKP):c.60C>T (p.Pro20=)

rs1037495706 
NM_007254.4(PNKP):c.624C>T (p.Ala208=)

rs571119317 
NM_007254.4(PNKP):c.636+12C>T

rs768950578 
NM_007254.4(PNKP):c.63713del

rs754413273 
NM_007254.4(PNKP):c.666C>T (p.Ile222=)

rs587784369 
NM_007254.4(PNKP):c.723G>A (p.Glu241=)

rs778970176 
NM_007254.4(PNKP):c.744+14G>A

rs111647455 
NM_007254.4(PNKP):c.744+81G>A

rs150731099 
NM_007254.4(PNKP):c.74599C>A

rs3739189 
NM_007254.4(PNKP):c.759G>A (p.Thr253=)

rs1057522106 
NM_007254.4(PNKP):c.762C>T (p.His254=)

rs794727920 
NM_007254.4(PNKP):c.789G>A (p.Thr263=)

rs768661843 
NM_007254.4(PNKP):c.816+6T>A

rs1313353571 
NM_007254.4(PNKP):c.81717A>G

rs759404435 
NM_007254.4(PNKP):c.81720C>G

rs201778535 
NM_007254.4(PNKP):c.817254G>A

rs149651968 
NM_007254.4(PNKP):c.8174G>T

rs377241372 
NM_007254.4(PNKP):c.8175del

rs767881542 
NM_007254.4(PNKP):c.834C>T (p.Pro278=)

rs372595462 
NM_007254.4(PNKP):c.906G>A (p.Lys302=)

rs1555811171 
NM_007254.4(PNKP):c.936+13C>T

rs962788282 
NM_007254.4(PNKP):c.936+6G>A

rs751664776 
NM_007254.4(PNKP):c.93720T>C

rs894694605 