Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136872099_136872103delCA148202399PEX7c.748-99_748-95del (p.=)
c.*13-99_*13-95del (p.=)
n.436-99_436-95del
c.634-99_634-95del (p.=)
n.753-99_753-95del (p.=)
c.628-99_628-95del (p.=)
c.454-99_454-95del (p.=)
c.526+25918_526+25922del (p.=)
dbSNP gnomAD
6g.136872099_136872101delCA2497184229PEX7c.748-99_748-97del (p.=)
c.*13-99_*13-97del (p.=)
n.436-99_436-97del
c.634-99_634-97del (p.=)
n.753-99_753-97del (p.=)
c.628-99_628-97del (p.=)
c.454-99_454-97del (p.=)
c.526+25918_526+25920del (p.=)
dbSNP
6g.136872109_136872113delCA819535174PEX7c.748-89_748-85del (p.=)
c.*13-89_*13-85del (p.=)
n.436-89_436-85del
c.634-89_634-85del (p.=)
n.753-89_753-85del (p.=)
c.628-89_628-85del (p.=)
c.454-89_454-85del (p.=)
c.526+25928_526+25932del (p.=)
dbSNP
6g.136872108A>GCA148202400PEX7c.748-90A>G (p.=)
c.*13-90A>G (p.=)
n.436-90A>G
c.634-90A>G (p.=)
n.753-90A>G (p.=)
c.628-90A>G (p.=)
c.454-90A>G (p.=)
c.526+25927A>G (p.=)
dbSNP
6g.136872108A>TCA148202403PEX7c.748-90A>T (p.=)
c.*13-90A>T (p.=)
n.436-90A>T
c.634-90A>T (p.=)
n.753-90A>T (p.=)
c.628-90A>T (p.=)
c.454-90A>T (p.=)
c.526+25927A>T (p.=)
dbSNP
6g.136872111A>GCA148202407PEX7c.748-87A>G (p.=)
c.*13-87A>G (p.=)
n.436-87A>G
c.634-87A>G (p.=)
n.753-87A>G (p.=)
c.628-87A>G (p.=)
c.454-87A>G (p.=)
c.526+25930A>G (p.=)
dbSNP
6g.136872113_136872115delCA819535184PEX7c.748-85_748-83del (p.=)
c.*13-85_*13-83del (p.=)
n.436-85_436-83del
c.634-85_634-83del (p.=)
n.753-85_753-83del (p.=)
c.628-85_628-83del (p.=)
c.454-85_454-83del (p.=)
c.526+25932_526+25934del (p.=)
dbSNP
6g.136872115T>CCA148202413PEX7c.748-83T>C (p.=)
c.*13-83T>C (p.=)
n.436-83T>C
c.634-83T>C (p.=)
n.753-83T>C (p.=)
c.628-83T>C (p.=)
c.454-83T>C (p.=)
c.526+25934T>C (p.=)
dbSNP
6g.136872129T>GCA148202420PEX7c.748-69T>G (p.=)
c.*13-69T>G (p.=)
n.436-69T>G
c.634-69T>G (p.=)
n.753-69T>G (p.=)
c.628-69T>G (p.=)
c.454-69T>G (p.=)
c.526+25948T>G (p.=)
dbSNP
6g.136872143G>TCA1094890157PEX7c.748-55G>T (p.=)
c.*13-55G>T (p.=)
n.436-55G>T
c.634-55G>T (p.=)
n.753-55G>T (p.=)
c.628-55G>T (p.=)
c.454-55G>T (p.=)
c.526+25962G>T (p.=)
6g.136872144T>CCA1094890162PEX7c.748-54T>C (p.=)
c.*13-54T>C (p.=)
n.436-54T>C
c.634-54T>C (p.=)
n.753-54T>C (p.=)
c.628-54T>C (p.=)
c.454-54T>C (p.=)
c.526+25963T>C (p.=)
6g.136872147T>ACA4017730PEX7c.748-51T>A (p.=)
c.*13-51T>A (p.=)
n.436-51T>A
c.634-51T>A (p.=)
n.753-51T>A (p.=)
c.628-51T>A (p.=)
c.454-51T>A (p.=)
c.526+25966T>A (p.=)
dbSNP ExAC gnomAD
6g.136872147T>CCA4017729PEX7c.748-51T>C (p.=)
c.*13-51T>C (p.=)
n.436-51T>C
c.634-51T>C (p.=)
n.753-51T>C (p.=)
c.628-51T>C (p.=)
c.454-51T>C (p.=)
c.526+25966T>C (p.=)
dbSNP ExAC gnomAD
6g.136872149A>GCA570574019PEX7c.748-49A>G (p.=)
c.*13-49A>G (p.=)
n.436-49A>G
c.634-49A>G (p.=)
n.753-49A>G (p.=)
c.628-49A>G (p.=)
c.454-49A>G (p.=)
c.526+25968A>G (p.=)
gnomAD
6g.136872152A>GCA570574021PEX7c.748-46A>G (p.=)
c.*13-46A>G (p.=)
n.436-46A>G
c.634-46A>G (p.=)
n.753-46A>G (p.=)
c.628-46A>G (p.=)
c.454-46A>G (p.=)
c.526+25971A>G (p.=)
gnomAD
6g.136872154A>CCA4017731PEX7c.748-44A>C (p.=)
c.*13-44A>C (p.=)
n.436-44A>C
c.634-44A>C (p.=)
n.753-44A>C (p.=)
c.628-44A>C (p.=)
c.454-44A>C (p.=)
c.526+25973A>C (p.=)
dbSNP ExAC gnomAD
6g.136872158G>ACA4017732PEX7c.748-40G>A (p.=)
c.*13-40G>A (p.=)
n.436-40G>A
c.634-40G>A (p.=)
n.753-40G>A (p.=)
c.628-40G>A (p.=)
c.454-40G>A (p.=)
c.526+25977G>A (p.=)
dbSNP ExAC gnomAD
6g.136872163C>ACA819535201PEX7c.748-35C>A (p.=)
c.*13-35C>A (p.=)
n.436-35C>A
c.634-35C>A (p.=)
n.753-35C>A (p.=)
c.628-35C>A (p.=)
c.454-35C>A (p.=)
c.527-25979C>A (p.=)
6g.136872163C>TCA148202448PEX7c.748-35C>T (p.=)
c.*13-35C>T (p.=)
n.436-35C>T
c.634-35C>T (p.=)
n.753-35C>T (p.=)
c.628-35C>T (p.=)
c.454-35C>T (p.=)
c.527-25979C>T (p.=)
dbSNP gnomAD
6g.136872168delCA2497184231PEX7c.748-30del (p.=)
c.*13-30del (p.=)
n.436-30del
c.634-30del (p.=)
n.753-30del (p.=)
c.628-30del (p.=)
c.454-30del (p.=)
c.527-25974del (p.=)
dbSNP
6g.136872169G>ACA4017734PEX7c.748-29G>A (p.=)
c.*13-29G>A (p.=)
n.436-29G>A
c.634-29G>A (p.=)
n.753-29G>A (p.=)
c.628-29G>A (p.=)
c.454-29G>A (p.=)
c.527-25973G>A (p.=)
dbSNP ExAC gnomAD COSMIC
6g.136872171dupCA4017733PEX7c.748-27dup (p.=)
c.*13-27dup (p.=)
n.436-27dup
c.634-27dup (p.=)
n.753-27dup (p.=)
c.628-27dup (p.=)
c.454-27dup (p.=)
c.527-25971dup (p.=)
dbSNP ExAC gnomAD
6g.136872170G>ACA2534015750PEX7c.748-28G>A (p.=)
c.*13-28G>A (p.=)
n.436-28G>A
c.634-28G>A (p.=)
n.753-28G>A (p.=)
c.628-28G>A (p.=)
c.454-28G>A (p.=)
c.527-25972G>A (p.=)
6g.136872170G>TCA4017735PEX7c.748-28G>T (p.=)
c.*13-28G>T (p.=)
n.436-28G>T
c.634-28G>T (p.=)
n.753-28G>T (p.=)
c.628-28G>T (p.=)
c.454-28G>T (p.=)
c.527-25972G>T (p.=)
dbSNP ExAC gnomAD
6g.136872171G>TCA819535209PEX7c.748-27G>T (p.=)
c.*13-27G>T (p.=)
n.436-27G>T
c.634-27G>T (p.=)
n.753-27G>T (p.=)
c.628-27G>T (p.=)
c.454-27G>T (p.=)
c.527-25971G>T (p.=)
6g.136872171_136872172insGTCA4017740PEX7c.748-27_748-26insGT (p.=)
c.*13-27_*13-26insGT (p.=)
n.436-27_436-26insGT
c.634-27_634-26insGT (p.=)
n.753-27_753-26insGT (p.=)
c.628-27_628-26insGT (p.=)
c.454-27_454-26insGT (p.=)
c.527-25971_527-25970insGT (p.=)
dbSNP dbSNP ExAC gnomAD
6g.136872171_136872172insGTTCA4017739PEX7c.748-27_748-26insGTT (p.=)
c.*13-27_*13-26insGTT (p.=)
n.436-27_436-26insGTT
c.634-27_634-26insGTT (p.=)
n.753-27_753-26insGTT (p.=)
c.628-27_628-26insGTT (p.=)
c.454-27_454-26insGTT (p.=)
c.527-25971_527-25970insGTT (p.=)
dbSNP dbSNP ExAC gnomAD
6g.136872171_136872172insGTTTCA4017738PEX7c.748-27_748-26insGTTT (p.=)
c.*13-27_*13-26insGTTT (p.=)
n.436-27_436-26insGTTT
c.634-27_634-26insGTTT (p.=)
n.753-27_753-26insGTTT (p.=)
c.628-27_628-26insGTTT (p.=)
c.454-27_454-26insGTTT (p.=)
c.527-25971_527-25970insGTTT (p.=)
dbSNP dbSNP ExAC
6g.136872172T>GCA4017742PEX7c.748-26T>G (p.=)
c.*13-26T>G (p.=)
n.436-26T>G
c.634-26T>G (p.=)
n.753-26T>G (p.=)
c.628-26T>G (p.=)
c.454-26T>G (p.=)
c.527-25970T>G (p.=)
dbSNP ExAC gnomAD
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2497184237PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
n.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
dbSNP
6g.136872181dupCA4017736PEX7c.748-17dup (p.=)
c.*13-17dup (p.=)
n.436-17dup
c.634-17dup (p.=)
n.753-17dup (p.=)
c.628-17dup (p.=)
c.454-17dup (p.=)
c.527-25961dup (p.=)
dbSNP dbSNP dbSNP ExAC gnomAD
6g.136872180_136872181dupCA570574042PEX7c.748-18_748-17dup (p.=)
c.*13-18_*13-17dup (p.=)
n.436-18_436-17dup
c.634-18_634-17dup (p.=)
n.753-18_753-17dup (p.=)
c.628-18_628-17dup (p.=)
c.454-18_454-17dup (p.=)
c.527-25962_527-25961dup (p.=)
dbSNP gnomAD
6g.136872179_136872181dupCA1094890188PEX7c.748-19_748-17dup (p.=)
c.*13-19_*13-17dup (p.=)
n.436-19_436-17dup
c.634-19_634-17dup (p.=)
n.753-19_753-17dup (p.=)
c.628-19_628-17dup (p.=)
c.454-19_454-17dup (p.=)
c.527-25963_527-25961dup (p.=)
6g.136872175_136872181dupCA1094890185PEX7c.748-23_748-17dup (p.=)
c.*13-23_*13-17dup (p.=)
n.436-23_436-17dup
c.634-23_634-17dup (p.=)
n.753-23_753-17dup (p.=)
c.628-23_628-17dup (p.=)
c.454-23_454-17dup (p.=)
c.527-25967_527-25961dup (p.=)
6g.136872172_136872181dupCA917869147PEX7c.748-26_748-17dup (p.=)
c.*13-26_*13-17dup (p.=)
n.436-26_436-17dup
c.634-26_634-17dup (p.=)
n.753-26_753-17dup (p.=)
c.628-26_628-17dup (p.=)
c.454-26_454-17dup (p.=)
c.527-25970_527-25961dup (p.=)
dbSNP
6g.136872181delCA4017737PEX7c.748-17del (p.=)
c.*13-17del (p.=)
n.436-17del
c.634-17del (p.=)
n.753-17del (p.=)
c.628-17del (p.=)
c.454-17del (p.=)
c.527-25961del (p.=)
dbSNP ExAC gnomAD
6g.136872179_136872181delCA819535242PEX7c.748-19_748-17del (p.=)
c.*13-19_*13-17del (p.=)
n.436-19_436-17del
c.634-19_634-17del (p.=)
n.753-19_753-17del (p.=)
c.628-19_628-17del (p.=)
c.454-19_454-17del (p.=)
c.527-25963_527-25961del (p.=)
dbSNP
6g.136872182_136872192delCA4017741PEX7c.748-16_748-6del (p.=)
c.*13-16_*13-6del (p.=)
n.436-16_436-6del
c.634-16_634-6del (p.=)
n.753-16_753-6del (p.=)
c.628-16_628-6del (p.=)
c.454-16_454-6del (p.=)
c.527-25960_527-25950del (p.=)
dbSNP ExAC gnomAD
6g.136872174T>CCA148202477PEX7c.748-24T>C (p.=)
c.*13-24T>C (p.=)
n.436-24T>C
c.634-24T>C (p.=)
n.753-24T>C (p.=)
c.628-24T>C (p.=)
c.454-24T>C (p.=)
c.527-25968T>C (p.=)
dbSNP
6g.136872175T>CCA570574043PEX7c.748-23T>C (p.=)
c.*13-23T>C (p.=)
n.436-23T>C
c.634-23T>C (p.=)
n.753-23T>C (p.=)
c.628-23T>C (p.=)
c.454-23T>C (p.=)
c.527-25967T>C (p.=)
gnomAD
6g.136872176T>CCA4017743PEX7c.748-22T>C (p.=)
c.*13-22T>C (p.=)
n.436-22T>C
c.634-22T>C (p.=)
n.753-22T>C (p.=)
c.628-22T>C (p.=)
c.454-22T>C (p.=)
c.527-25966T>C (p.=)
dbSNP ExAC gnomAD
6g.136872177T>ACA148202484PEX7c.748-21T>A (p.=)
c.*13-21T>A (p.=)
n.436-21T>A
c.634-21T>A (p.=)
n.753-21T>A (p.=)
c.628-21T>A (p.=)
c.454-21T>A (p.=)
c.527-25965T>A (p.=)
dbSNP
6g.136872181T>CCA570574045PEX7c.748-17T>C (p.=)
c.*13-17T>C (p.=)
n.436-17T>C
c.634-17T>C (p.=)
n.753-17T>C (p.=)
c.628-17T>C (p.=)
c.454-17T>C (p.=)
c.527-25961T>C (p.=)
gnomAD COSMIC
6g.136872182_136872183delCA570574044PEX7c.748-16_748-15del (p.=)
c.*13-16_*13-15del (p.=)
n.436-16_436-15del
c.634-16_634-15del (p.=)
n.753-16_753-15del (p.=)
c.628-16_628-15del (p.=)
c.454-16_454-15del (p.=)
c.527-25960_527-25959del (p.=)
dbSNP gnomAD
6g.136872182delCA452228766PEX7c.748-16del (p.=)
c.*13-16del (p.=)
n.436-16del
c.634-16del (p.=)
n.753-16del (p.=)
c.628-16del (p.=)
c.454-16del (p.=)
c.527-25960del (p.=)
dbSNP gnomAD
6g.136872182C>ACA148202486PEX7c.748-16C>A (p.=)
c.*13-16C>A (p.=)
n.436-16C>A
c.634-16C>A (p.=)
n.753-16C>A (p.=)
c.628-16C>A (p.=)
c.454-16C>A (p.=)
c.527-25960C>A (p.=)
dbSNP
6g.136872182C>TCA4017744PEX7c.748-16C>T (p.=)
c.*13-16C>T (p.=)
n.436-16C>T
c.634-16C>T (p.=)
n.753-16C>T (p.=)
c.628-16C>T (p.=)
c.454-16C>T (p.=)
c.527-25960C>T (p.=)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC COSMIC
6g.136872183T>CCA148202514PEX7c.748-15T>C (p.=)
c.*13-15T>C (p.=)
n.436-15T>C
c.634-15T>C (p.=)
n.753-15T>C (p.=)
c.628-15T>C (p.=)
c.454-15T>C (p.=)
c.527-25959T>C (p.=)
dbSNP gnomAD
6g.136872193dupCA203568PEX7c.748-5dup (p.=)
c.*13-5dup (p.=)
n.436-5dup
c.634-5dup (p.=)
n.753-5dup (p.=)
c.628-5dup (p.=)
c.454-5dup (p.=)
c.527-25949dup (p.=)
ClinVar dbSNP dbSNP ExAC gnomAD
6g.136872192_136872193dupCA148202508PEX7c.748-6_748-5dup (p.=)
c.*13-6_*13-5dup (p.=)
n.436-6_436-5dup
c.634-6_634-5dup (p.=)
n.753-6_753-5dup (p.=)
c.628-6_628-5dup (p.=)
c.454-6_454-5dup (p.=)
c.527-25950_527-25949dup (p.=)
dbSNP gnomAD

Number of alleles fetched