Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136872181_136872182insTTTTTTTTTTTCA2680490680PEX7c.748-17_748-16insTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTT)
 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTCA2680490679PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2680490686PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2497184237PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2680490674PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872181dupCA4017736PEX7c.748-17dup (n.748-17dup)
c.*13-17dup (n.*13-17dup)
c.436-17dup
c.634-17dup (n.634-17dup)
c.753-17dup (n.753-17dup)
c.628-17dup (n.628-17dup)
c.454-17dup (n.454-17dup)
c.527-25961dup (n.527-25961dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872180_136872181dupCA570574042PEX7c.748-18_748-17dup (n.748-18_748-17dup)
c.*13-18_*13-17dup (n.*13-18_*13-17dup)
c.436-18_436-17dup
c.634-18_634-17dup (n.634-18_634-17dup)
c.753-18_753-17dup (n.753-18_753-17dup)
c.628-18_628-17dup (n.628-18_628-17dup)
c.454-18_454-17dup (n.454-18_454-17dup)
c.527-25962_527-25961dup (n.527-25962_527-25961dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872179_136872181dupCA1094890188PEX7c.748-19_748-17dup (n.748-19_748-17dup)
c.*13-19_*13-17dup (n.*13-19_*13-17dup)
c.436-19_436-17dup
c.634-19_634-17dup (n.634-19_634-17dup)
c.753-19_753-17dup (n.753-19_753-17dup)
c.628-19_628-17dup (n.628-19_628-17dup)
c.454-19_454-17dup (n.454-19_454-17dup)
c.527-25963_527-25961dup (n.527-25963_527-25961dup)
 gnomAD v3 gnomAD v4
6g.136872178_136872181dupCA2680490683PEX7c.748-20_748-17dup (n.748-20_748-17dup)
c.*13-20_*13-17dup (n.*13-20_*13-17dup)
c.436-20_436-17dup
c.634-20_634-17dup (n.634-20_634-17dup)
c.753-20_753-17dup (n.753-20_753-17dup)
c.628-20_628-17dup (n.628-20_628-17dup)
c.454-20_454-17dup (n.454-20_454-17dup)
c.527-25964_527-25961dup (n.527-25964_527-25961dup)
 gnomAD v4
6g.136872176_136872181dupCA2680490682PEX7c.748-22_748-17dup (n.748-22_748-17dup)
c.*13-22_*13-17dup (n.*13-22_*13-17dup)
c.436-22_436-17dup
c.634-22_634-17dup (n.634-22_634-17dup)
c.753-22_753-17dup (n.753-22_753-17dup)
c.628-22_628-17dup (n.628-22_628-17dup)
c.454-22_454-17dup (n.454-22_454-17dup)
c.527-25966_527-25961dup (n.527-25966_527-25961dup)
 gnomAD v4
6g.136872175_136872181dupCA1094890185PEX7c.748-23_748-17dup (n.748-23_748-17dup)
c.*13-23_*13-17dup (n.*13-23_*13-17dup)
c.436-23_436-17dup
c.634-23_634-17dup (n.634-23_634-17dup)
c.753-23_753-17dup (n.753-23_753-17dup)
c.628-23_628-17dup (n.628-23_628-17dup)
c.454-23_454-17dup (n.454-23_454-17dup)
c.527-25967_527-25961dup (n.527-25967_527-25961dup)
 gnomAD v3 gnomAD v4
6g.136872173_136872181dupCA2680490681PEX7c.748-25_748-17dup (n.748-25_748-17dup)
c.*13-25_*13-17dup (n.*13-25_*13-17dup)
c.436-25_436-17dup
c.634-25_634-17dup (n.634-25_634-17dup)
c.753-25_753-17dup (n.753-25_753-17dup)
c.628-25_628-17dup (n.628-25_628-17dup)
c.454-25_454-17dup (n.454-25_454-17dup)
c.527-25969_527-25961dup (n.527-25969_527-25961dup)
 gnomAD v4
6g.136872172_136872181dupCA917869147PEX7c.748-26_748-17dup (n.748-26_748-17dup)
c.*13-26_*13-17dup (n.*13-26_*13-17dup)
c.436-26_436-17dup
c.634-26_634-17dup (n.634-26_634-17dup)
c.753-26_753-17dup (n.753-26_753-17dup)
c.628-26_628-17dup (n.628-26_628-17dup)
c.454-26_454-17dup (n.454-26_454-17dup)
c.527-25970_527-25961dup (n.527-25970_527-25961dup)
 dbSNP gnomAD v3 gnomAD v4
6g.136872181delCA4017737PEX7c.748-17del (n.748-17del)
c.*13-17del (n.*13-17del)
c.436-17del
c.634-17del (n.634-17del)
c.753-17del (n.753-17del)
c.628-17del (n.628-17del)
c.454-17del (n.454-17del)
c.527-25961del (n.527-25961del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872180_136872181delCA2680490676PEX7c.748-18_748-17del (n.748-18_748-17del)
c.*13-18_*13-17del (n.*13-18_*13-17del)
c.436-18_436-17del
c.634-18_634-17del (n.634-18_634-17del)
c.753-18_753-17del (n.753-18_753-17del)
c.628-18_628-17del (n.628-18_628-17del)
c.454-18_454-17del (n.454-18_454-17del)
c.527-25962_527-25961del (n.527-25962_527-25961del)
 gnomAD v4
6g.136872179_136872181delCA819535242PEX7c.748-19_748-17del (n.748-19_748-17del)
c.*13-19_*13-17del (n.*13-19_*13-17del)
c.436-19_436-17del
c.634-19_634-17del (n.634-19_634-17del)
c.753-19_753-17del (n.753-19_753-17del)
c.628-19_628-17del (n.628-19_628-17del)
c.454-19_454-17del (n.454-19_454-17del)
c.527-25963_527-25961del (n.527-25963_527-25961del)
 dbSNP gnomAD v3 gnomAD v4
6g.136872178_136872181delCA2680490677PEX7c.748-20_748-17del (n.748-20_748-17del)
c.*13-20_*13-17del (n.*13-20_*13-17del)
c.436-20_436-17del
c.634-20_634-17del (n.634-20_634-17del)
c.753-20_753-17del (n.753-20_753-17del)
c.628-20_628-17del (n.628-20_628-17del)
c.454-20_454-17del (n.454-20_454-17del)
c.527-25964_527-25961del (n.527-25964_527-25961del)
 dbSNP gnomAD v4
6g.136872182_136872192delCA4017741PEX7c.748-16_748-6del (n.748-16_748-6del)
c.*13-16_*13-6del (n.*13-16_*13-6del)
c.436-16_436-6del
c.634-16_634-6del (n.634-16_634-6del)
c.753-16_753-6del (n.753-16_753-6del)
c.628-16_628-6del (n.628-16_628-6del)
c.454-16_454-6del (n.454-16_454-6del)
c.527-25960_527-25950del (n.527-25960_527-25950del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872176T>CCA4017743PEX7c.748-22T>C (n.748-22T>C)
c.*13-22T>C (n.*13-22T>C)
c.436-22T>C
c.634-22T>C (n.634-22T>C)
c.753-22T>C (n.753-22T>C)
c.628-22T>C (n.628-22T>C)
c.454-22T>C (n.454-22T>C)
c.527-25966T>C (n.527-25966T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872176T>GCA2680490690PEX7c.748-22T>G (n.748-22T>G)
c.*13-22T>G (n.*13-22T>G)
c.436-22T>G
c.634-22T>G (n.634-22T>G)
c.753-22T>G (n.753-22T>G)
c.628-22T>G (n.628-22T>G)
c.454-22T>G (n.454-22T>G)
c.527-25966T>G (n.527-25966T>G)
 gnomAD v4
6g.136872177T>ACA148202484PEX7c.748-21T>A (n.748-21T>A)
c.*13-21T>A (n.*13-21T>A)
c.436-21T>A
c.634-21T>A (n.634-21T>A)
c.753-21T>A (n.753-21T>A)
c.628-21T>A (n.628-21T>A)
c.454-21T>A (n.454-21T>A)
c.527-25965T>A (n.527-25965T>A)
 dbSNP gnomAD v4
6g.136872177T>CCA2680490691PEX7c.748-21T>C (n.748-21T>C)
c.*13-21T>C (n.*13-21T>C)
c.436-21T>C
c.634-21T>C (n.634-21T>C)
c.753-21T>C (n.753-21T>C)
c.628-21T>C (n.628-21T>C)
c.454-21T>C (n.454-21T>C)
c.527-25965T>C (n.527-25965T>C)
 gnomAD v4
6g.136872178T>ACA2680490692PEX7c.748-20T>A (n.748-20T>A)
c.*13-20T>A (n.*13-20T>A)
c.436-20T>A
c.634-20T>A (n.634-20T>A)
c.753-20T>A (n.753-20T>A)
c.628-20T>A (n.628-20T>A)
c.454-20T>A (n.454-20T>A)
c.527-25964T>A (n.527-25964T>A)
 gnomAD v4
6g.136872178T>CCA2680490693PEX7c.748-20T>C (n.748-20T>C)
c.*13-20T>C (n.*13-20T>C)
c.436-20T>C
c.634-20T>C (n.634-20T>C)
c.753-20T>C (n.753-20T>C)
c.628-20T>C (n.628-20T>C)
c.454-20T>C (n.454-20T>C)
c.527-25964T>C (n.527-25964T>C)
 gnomAD v4
6g.136872179T>CCA2680490695PEX7c.748-19T>C (n.748-19T>C)
c.*13-19T>C (n.*13-19T>C)
c.436-19T>C
c.634-19T>C (n.634-19T>C)
c.753-19T>C (n.753-19T>C)
c.628-19T>C (n.628-19T>C)
c.454-19T>C (n.454-19T>C)
c.527-25963T>C (n.527-25963T>C)
 gnomAD v4
6g.136872182_136872185delCA2680490696PEX7c.748-16_748-13del (n.748-16_748-13del)
c.*13-16_*13-13del (n.*13-16_*13-13del)
c.436-16_436-13del
c.634-16_634-13del (n.634-16_634-13del)
c.753-16_753-13del (n.753-16_753-13del)
c.628-16_628-13del (n.628-16_628-13del)
c.454-16_454-13del (n.454-16_454-13del)
c.527-25960_527-25957del (n.527-25960_527-25957del)
 gnomAD v4
6g.136872179_136872180insCCA2680490698PEX7c.748-19_748-18insC (n.748-19_748-18insC)
c.*13-19_*13-18insC (n.*13-19_*13-18insC)
c.436-19_436-18insC
c.634-19_634-18insC (n.634-19_634-18insC)
c.753-19_753-18insC (n.753-19_753-18insC)
c.628-19_628-18insC (n.628-19_628-18insC)
c.454-19_454-18insC (n.454-19_454-18insC)
c.527-25963_527-25962insC (n.527-25963_527-25962insC)
 gnomAD v4
6g.136872180T>CCA2680490699PEX7c.748-18T>C (n.748-18T>C)
c.*13-18T>C (n.*13-18T>C)
c.436-18T>C
c.634-18T>C (n.634-18T>C)
c.753-18T>C (n.753-18T>C)
c.628-18T>C (n.628-18T>C)
c.454-18T>C (n.454-18T>C)
c.527-25962T>C (n.527-25962T>C)
 gnomAD v4
6g.136872180_136872181insCTCA2680490700PEX7c.748-18_748-17insCT (n.748-18_748-17insCT)
c.*13-18_*13-17insCT (n.*13-18_*13-17insCT)
c.436-18_436-17insCT
c.634-18_634-17insCT (n.634-18_634-17insCT)
c.753-18_753-17insCT (n.753-18_753-17insCT)
c.628-18_628-17insCT (n.628-18_628-17insCT)
c.454-18_454-17insCT (n.454-18_454-17insCT)
c.527-25962_527-25961insCT (n.527-25962_527-25961insCT)
 gnomAD v4
6g.136872182_136872184delCA2573140587PEX7c.748-16_748-14del (n.748-16_748-14del)
c.*13-16_*13-14del (n.*13-16_*13-14del)
c.436-16_436-14del
c.634-16_634-14del (n.634-16_634-14del)
c.753-16_753-14del (n.753-16_753-14del)
c.628-16_628-14del (n.628-16_628-14del)
c.454-16_454-14del (n.454-16_454-14del)
c.527-25960_527-25958del (n.527-25960_527-25958del)
 ClinVar dbSNP gnomAD v4
6g.136872180_136872181insCCA2680490701PEX7c.748-18_748-17insC (n.748-18_748-17insC)
c.*13-18_*13-17insC (n.*13-18_*13-17insC)
c.436-18_436-17insC
c.634-18_634-17insC (n.634-18_634-17insC)
c.753-18_753-17insC (n.753-18_753-17insC)
c.628-18_628-17insC (n.628-18_628-17insC)
c.454-18_454-17insC (n.454-18_454-17insC)
c.527-25962_527-25961insC (n.527-25962_527-25961insC)
 dbSNP gnomAD v4
6g.136872181T>ACA2680490702PEX7c.748-17T>A (n.748-17T>A)
c.*13-17T>A (n.*13-17T>A)
c.436-17T>A
c.634-17T>A (n.634-17T>A)
c.753-17T>A (n.753-17T>A)
c.628-17T>A (n.628-17T>A)
c.454-17T>A (n.454-17T>A)
c.527-25961T>A (n.527-25961T>A)
 gnomAD v4
6g.136872181T>CCA570574045PEX7c.748-17T>C (n.748-17T>C)
c.*13-17T>C (n.*13-17T>C)
c.436-17T>C
c.634-17T>C (n.634-17T>C)
c.753-17T>C (n.753-17T>C)
c.628-17T>C (n.628-17T>C)
c.454-17T>C (n.454-17T>C)
c.527-25961T>C (n.527-25961T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.136872182_136872183delCA570574044PEX7c.748-16_748-15del (n.748-16_748-15del)
c.*13-16_*13-15del (n.*13-16_*13-15del)
c.436-16_436-15del
c.634-16_634-15del (n.634-16_634-15del)
c.753-16_753-15del (n.753-16_753-15del)
c.628-16_628-15del (n.628-16_628-15del)
c.454-16_454-15del (n.454-16_454-15del)
c.527-25960_527-25959del (n.527-25960_527-25959del)
 dbSNP gnomAD v2 gnomAD v4
6g.136872181_136872182insTCCA2578751852PEX7c.748-17_748-16insTC (n.748-17_748-16insTC)
c.*13-17_*13-16insTC (n.*13-17_*13-16insTC)
c.436-17_436-16insTC
c.634-17_634-16insTC (n.634-17_634-16insTC)
c.753-17_753-16insTC (n.753-17_753-16insTC)
c.628-17_628-16insTC (n.628-17_628-16insTC)
c.454-17_454-16insTC (n.454-17_454-16insTC)
c.527-25961_527-25960insTC (n.527-25961_527-25960insTC)
6g.136872182delCA452228766PEX7c.748-16del (n.748-16del)
c.*13-16del (n.*13-16del)
c.436-16del
c.634-16del (n.634-16del)
c.753-16del (n.753-16del)
c.628-16del (n.628-16del)
c.454-16del (n.454-16del)
c.527-25960del (n.527-25960del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872182C>ACA148202486PEX7c.748-16C>A (n.748-16C>A)
c.*13-16C>A (n.*13-16C>A)
c.436-16C>A
c.634-16C>A (n.634-16C>A)
c.753-16C>A (n.753-16C>A)
c.628-16C>A (n.628-16C>A)
c.454-16C>A (n.454-16C>A)
c.527-25960C>A (n.527-25960C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.136872182C>GCA2680490703PEX7c.748-16C>G (n.748-16C>G)
c.*13-16C>G (n.*13-16C>G)
c.436-16C>G
c.634-16C>G (n.634-16C>G)
c.753-16C>G (n.753-16C>G)
c.628-16C>G (n.628-16C>G)
c.454-16C>G (n.454-16C>G)
c.527-25960C>G (n.527-25960C>G)
 gnomAD v4
6g.136872182C>TCA4017744PEX7c.748-16C>T (n.748-16C>T)
c.*13-16C>T (n.*13-16C>T)
c.436-16C>T
c.634-16C>T (n.634-16C>T)
c.753-16C>T (n.753-16C>T)
c.628-16C>T (n.628-16C>T)
c.454-16C>T (n.454-16C>T)
c.527-25960C>T (n.527-25960C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.136872183T>CCA148202514PEX7c.748-15T>C (n.748-15T>C)
c.*13-15T>C (n.*13-15T>C)
c.436-15T>C
c.634-15T>C (n.634-15T>C)
c.753-15T>C (n.753-15T>C)
c.628-15T>C (n.628-15T>C)
c.454-15T>C (n.454-15T>C)
c.527-25959T>C (n.527-25959T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872193_136872194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2680490705PEX7c.748-5_748-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-5_748-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-5_*13-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-5_*13-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-5_436-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-5_634-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-5_634-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-5_753-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-5_753-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-5_628-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-5_628-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-5_454-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-5_454-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25949_527-25948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25949_527-25948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872193_136872194insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTCA2680490706PEX7c.748-5_748-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.748-5_748-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-5_*13-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-5_*13-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-5_436-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT
c.634-5_634-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.634-5_634-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-5_753-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.753-5_753-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-5_628-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.628-5_628-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-5_454-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.454-5_454-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25949_527-25948insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25949_527-25948insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872193dupCA203568PEX7c.748-5dup (n.748-5dup)
c.*13-5dup (n.*13-5dup)
c.436-5dup
c.634-5dup (n.634-5dup)
c.753-5dup (n.753-5dup)
c.628-5dup (n.628-5dup)
c.454-5dup (n.454-5dup)
c.527-25949dup (n.527-25949dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872192_136872193dupCA148202508PEX7c.748-6_748-5dup (n.748-6_748-5dup)
c.*13-6_*13-5dup (n.*13-6_*13-5dup)
c.436-6_436-5dup
c.634-6_634-5dup (n.634-6_634-5dup)
c.753-6_753-5dup (n.753-6_753-5dup)
c.628-6_628-5dup (n.628-6_628-5dup)
c.454-6_454-5dup (n.454-6_454-5dup)
c.527-25950_527-25949dup (n.527-25950_527-25949dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872191_136872193dupCA2680490709PEX7c.748-7_748-5dup (n.748-7_748-5dup)
c.*13-7_*13-5dup (n.*13-7_*13-5dup)
c.436-7_436-5dup
c.634-7_634-5dup (n.634-7_634-5dup)
c.753-7_753-5dup (n.753-7_753-5dup)
c.628-7_628-5dup (n.628-7_628-5dup)
c.454-7_454-5dup (n.454-7_454-5dup)
c.527-25951_527-25949dup (n.527-25951_527-25949dup)
 gnomAD v4
6g.136872190_136872193dupCA2680490707PEX7c.748-8_748-5dup (n.748-8_748-5dup)
c.*13-8_*13-5dup (n.*13-8_*13-5dup)
c.436-8_436-5dup
c.634-8_634-5dup (n.634-8_634-5dup)
c.753-8_753-5dup (n.753-8_753-5dup)
c.628-8_628-5dup (n.628-8_628-5dup)
c.454-8_454-5dup (n.454-8_454-5dup)
c.527-25952_527-25949dup (n.527-25952_527-25949dup)
 gnomAD v4
6g.136872193delCA203569PEX7c.748-5del (n.748-5del)
c.*13-5del (n.*13-5del)
c.436-5del
c.634-5del (n.634-5del)
c.753-5del (n.753-5del)
c.628-5del (n.628-5del)
c.454-5del (n.454-5del)
c.527-25949del (n.527-25949del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.136872192_136872193delCA4017745PEX7c.748-6_748-5del (n.748-6_748-5del)
c.*13-6_*13-5del (n.*13-6_*13-5del)
c.436-6_436-5del
c.634-6_634-5del (n.634-6_634-5del)
c.753-6_753-5del (n.753-6_753-5del)
c.628-6_628-5del (n.628-6_628-5del)
c.454-6_454-5del (n.454-6_454-5del)
c.527-25950_527-25949del (n.527-25950_527-25949del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872191_136872193delCA2680490704PEX7c.748-7_748-5del (n.748-7_748-5del)
c.*13-7_*13-5del (n.*13-7_*13-5del)
c.436-7_436-5del
c.634-7_634-5del (n.634-7_634-5del)
c.753-7_753-5del (n.753-7_753-5del)
c.628-7_628-5del (n.628-7_628-5del)
c.454-7_454-5del (n.454-7_454-5del)
c.527-25951_527-25949del (n.527-25951_527-25949del)
 gnomAD v4
6g.136872183_136872184insCCA2680490711PEX7c.748-15_748-14insC (n.748-15_748-14insC)
c.*13-15_*13-14insC (n.*13-15_*13-14insC)
c.436-15_436-14insC
c.634-15_634-14insC (n.634-15_634-14insC)
c.753-15_753-14insC (n.753-15_753-14insC)
c.628-15_628-14insC (n.628-15_628-14insC)
c.454-15_454-14insC (n.454-15_454-14insC)
c.527-25959_527-25958insC (n.527-25959_527-25958insC)
 gnomAD v4

Number of alleles fetched