| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13692042G>A | CA3201234 | DNAH5 | n.1150C>T c.13817C>T (p.Ala4606Val) c.13772C>T (p.Ala4591Val) c.13925C>T (p.Ala4642Val) c.13505C>T (p.Ala4502Val) c.12830C>T (p.Ala4277Val) c.9014C>T (p.Ala3005Val) c.8567C>T (p.Ala2856Val) c.7904C>T (p.Ala2635Val) c.12419C>T (p.Ala4140Val) | dbSNP ExAC gnomAD v2 |
| 5 | g.13692042G>C | CA359188597 | DNAH5 | n.1150C>G c.13817C>G (p.Ala4606Gly) c.13772C>G (p.Ala4591Gly) c.13925C>G (p.Ala4642Gly) c.13505C>G (p.Ala4502Gly) c.12830C>G (p.Ala4277Gly) c.9014C>G (p.Ala3005Gly) c.8567C>G (p.Ala2856Gly) c.7904C>G (p.Ala2635Gly) c.12419C>G (p.Ala4140Gly) | |
| 5 | g.13692042G= | CA1528395855 | DNAH5 | n.1150C= c.13817C= (p.Ala4606=) c.13772C= (p.Ala4591=) c.13925C= (p.Ala4642=) c.13505C= (p.Ala4502=) c.12830C= (p.Ala4277=) c.9014C= (p.Ala3005=) c.8567C= (p.Ala2856=) c.7904C= (p.Ala2635=) c.12419C= (p.Ala4140=) | |
| 5 | g.13692042G>T | CA3201233 | DNAH5 | n.1150C>A c.13817C>A (p.Ala4606Asp) c.13772C>A (p.Ala4591Asp) c.13925C>A (p.Ala4642Asp) c.13505C>A (p.Ala4502Asp) c.12830C>A (p.Ala4277Asp) c.9014C>A (p.Ala3005Asp) c.8567C>A (p.Ala2856Asp) c.7904C>A (p.Ala2635Asp) c.12419C>A (p.Ala4140Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13692043C>A | CA359188598 | DNAH5 | n.1149G>T c.13816G>T (p.Ala4606Ser) c.13771G>T (p.Ala4591Ser) c.13924G>T (p.Ala4642Ser) c.13504G>T (p.Ala4502Ser) c.12829G>T (p.Ala4277Ser) c.9013G>T (p.Ala3005Ser) c.8566G>T (p.Ala2856Ser) c.7903G>T (p.Ala2635Ser) c.12418G>T (p.Ala4140Ser) | gnomAD v4 |
| 5 | g.13692043C>G | CA359188599 | DNAH5 | n.1149G>C c.13816G>C (p.Ala4606Pro) c.13771G>C (p.Ala4591Pro) c.13924G>C (p.Ala4642Pro) c.13504G>C (p.Ala4502Pro) c.12829G>C (p.Ala4277Pro) c.9013G>C (p.Ala3005Pro) c.8566G>C (p.Ala2856Pro) c.7903G>C (p.Ala2635Pro) c.12418G>C (p.Ala4140Pro) | gnomAD v4 |
| 5 | g.13692043C>T | CA359188600 | DNAH5 | n.1149G>A c.13816G>A (p.Ala4606Thr) c.13771G>A (p.Ala4591Thr) c.13924G>A (p.Ala4642Thr) c.13504G>A (p.Ala4502Thr) c.12829G>A (p.Ala4277Thr) c.9013G>A (p.Ala3005Thr) c.8566G>A (p.Ala2856Thr) c.7903G>A (p.Ala2635Thr) c.12418G>A (p.Ala4140Thr) | |
| 5 | g.13692044T>A | CA443248667 | DNAH5 | n.1148A>T c.13815A>T (p.Thr4605=) c.13770A>T (p.Thr4590=) c.13923A>T (p.Thr4641=) c.13503A>T (p.Thr4501=) c.12828A>T (p.Thr4276=) c.9012A>T (p.Thr3004=) c.8565A>T (p.Thr2855=) c.7902A>T (p.Thr2634=) c.12417A>T (p.Thr4139=) | |
| 5 | g.13692044T>C | CA443248668 | DNAH5 | n.1148A>G c.13815A>G (p.Thr4605=) c.13770A>G (p.Thr4590=) c.13923A>G (p.Thr4641=) c.13503A>G (p.Thr4501=) c.12828A>G (p.Thr4276=) c.9012A>G (p.Thr3004=) c.8565A>G (p.Thr2855=) c.7902A>G (p.Thr2634=) c.12417A>G (p.Thr4139=) | |
| 5 | g.13692044T>G | CA113905456 | DNAH5 | n.1148A>C c.13815A>C (p.Thr4605=) c.13770A>C (p.Thr4590=) c.13923A>C (p.Thr4641=) c.13503A>C (p.Thr4501=) c.12828A>C (p.Thr4276=) c.9012A>C (p.Thr3004=) c.8565A>C (p.Thr2855=) c.7902A>C (p.Thr2634=) c.12417A>C (p.Thr4139=) | dbSNP |
| 5 | g.13692044T= | CA1528395856 | DNAH5 | n.1148A= c.13815A= (p.Thr4605=) c.13770A= (p.Thr4590=) c.13923A= (p.Thr4641=) c.13503A= (p.Thr4501=) c.12828A= (p.Thr4276=) c.9012A= (p.Thr3004=) c.8565A= (p.Thr2855=) c.7902A= (p.Thr2634=) c.12417A= (p.Thr4139=) | |
| 5 | g.13692045G>A | CA359188602 | DNAH5 | n.1147C>T c.13814C>T (p.Thr4605Ile) c.13769C>T (p.Thr4590Ile) c.13922C>T (p.Thr4641Ile) c.13502C>T (p.Thr4501Ile) c.12827C>T (p.Thr4276Ile) c.9011C>T (p.Thr3004Ile) c.8564C>T (p.Thr2855Ile) c.7901C>T (p.Thr2634Ile) c.12416C>T (p.Thr4139Ile) | |
| 5 | g.13692045G>C | CA359188603 | DNAH5 | n.1147C>G c.13814C>G (p.Thr4605Arg) c.13769C>G (p.Thr4590Arg) c.13922C>G (p.Thr4641Arg) c.13502C>G (p.Thr4501Arg) c.12827C>G (p.Thr4276Arg) c.9011C>G (p.Thr3004Arg) c.8564C>G (p.Thr2855Arg) c.7901C>G (p.Thr2634Arg) c.12416C>G (p.Thr4139Arg) | |
| 5 | g.13692045G>T | CA359188601 | DNAH5 | n.1147C>A c.13814C>A (p.Thr4605Lys) c.13769C>A (p.Thr4590Lys) c.13922C>A (p.Thr4641Lys) c.13502C>A (p.Thr4501Lys) c.12827C>A (p.Thr4276Lys) c.9011C>A (p.Thr3004Lys) c.8564C>A (p.Thr2855Lys) c.7901C>A (p.Thr2634Lys) c.12416C>A (p.Thr4139Lys) | |
| 5 | g.13692046T>A | CA359188606 | DNAH5 | n.1146A>T c.13813A>T (p.Thr4605Ser) c.13768A>T (p.Thr4590Ser) c.13921A>T (p.Thr4641Ser) c.13501A>T (p.Thr4501Ser) c.12826A>T (p.Thr4276Ser) c.9010A>T (p.Thr3004Ser) c.8563A>T (p.Thr2855Ser) c.7900A>T (p.Thr2634Ser) c.12415A>T (p.Thr4139Ser) | |
| 5 | g.13692046T>C | CA359188604 | DNAH5 | n.1146A>G c.13813A>G (p.Thr4605Ala) c.13768A>G (p.Thr4590Ala) c.13921A>G (p.Thr4641Ala) c.13501A>G (p.Thr4501Ala) c.12826A>G (p.Thr4276Ala) c.9010A>G (p.Thr3004Ala) c.8563A>G (p.Thr2855Ala) c.7900A>G (p.Thr2634Ala) c.12415A>G (p.Thr4139Ala) | COSMIC |
| 5 | g.13692046T>G | CA359188605 | DNAH5 | n.1146A>C c.13813A>C (p.Thr4605Pro) c.13768A>C (p.Thr4590Pro) c.13921A>C (p.Thr4641Pro) c.13501A>C (p.Thr4501Pro) c.12826A>C (p.Thr4276Pro) c.9010A>C (p.Thr3004Pro) c.8563A>C (p.Thr2855Pro) c.7900A>C (p.Thr2634Pro) c.12415A>C (p.Thr4139Pro) | |
| 5 | g.13692047C>A | CA359188607 | DNAH5 | n.1145G>T c.13812G>T (p.Arg4604Ser) c.13767G>T (p.Arg4589Ser) c.13920G>T (p.Arg4640Ser) c.13500G>T (p.Arg4500Ser) c.12825G>T (p.Arg4275Ser) c.9009G>T (p.Arg3003Ser) c.8562G>T (p.Arg2854Ser) c.7899G>T (p.Arg2633Ser) c.12414G>T (p.Arg4138Ser) | dbSNP |
| 5 | g.13692047C= | CA1528395857 | DNAH5 | n.1145G= c.13812G= (p.Arg4604=) c.13767G= (p.Arg4589=) c.13920G= (p.Arg4640=) c.13500G= (p.Arg4500=) c.12825G= (p.Arg4275=) c.9009G= (p.Arg3003=) c.8562G= (p.Arg2854=) c.7899G= (p.Arg2633=) c.12414G= (p.Arg4138=) | |
| 5 | g.13692047C>G | CA359188608 | DNAH5 | n.1145G>C c.13812G>C (p.Arg4604Ser) c.13767G>C (p.Arg4589Ser) c.13920G>C (p.Arg4640Ser) c.13500G>C (p.Arg4500Ser) c.12825G>C (p.Arg4275Ser) c.9009G>C (p.Arg3003Ser) c.8562G>C (p.Arg2854Ser) c.7899G>C (p.Arg2633Ser) c.12414G>C (p.Arg4138Ser) | |
| 5 | g.13692047C>T | CA443248672 | DNAH5 | n.1145G>A c.13812G>A (p.Arg4604=) c.13767G>A (p.Arg4589=) c.13920G>A (p.Arg4640=) c.13500G>A (p.Arg4500=) c.12825G>A (p.Arg4275=) c.9009G>A (p.Arg3003=) c.8562G>A (p.Arg2854=) c.7899G>A (p.Arg2633=) c.12414G>A (p.Arg4138=) | gnomAD v4 |
| 5 | g.13692048C>A | CA359188609 | DNAH5 | n.1144G>T c.13811G>T (p.Arg4604Met) c.13766G>T (p.Arg4589Met) c.13919G>T (p.Arg4640Met) c.13499G>T (p.Arg4500Met) c.12824G>T (p.Arg4275Met) c.9008G>T (p.Arg3003Met) c.8561G>T (p.Arg2854Met) c.7898G>T (p.Arg2633Met) c.12413G>T (p.Arg4138Met) | |
| 5 | g.13692048C>G | CA359188610 | DNAH5 | n.1144G>C c.13811G>C (p.Arg4604Thr) c.13766G>C (p.Arg4589Thr) c.13919G>C (p.Arg4640Thr) c.13499G>C (p.Arg4500Thr) c.12824G>C (p.Arg4275Thr) c.9008G>C (p.Arg3003Thr) c.8561G>C (p.Arg2854Thr) c.7898G>C (p.Arg2633Thr) c.12413G>C (p.Arg4138Thr) | |
| 5 | g.13692048C>T | CA359188611 | DNAH5 | n.1144G>A c.13811G>A (p.Arg4604Lys) c.13766G>A (p.Arg4589Lys) c.13919G>A (p.Arg4640Lys) c.13499G>A (p.Arg4500Lys) c.12824G>A (p.Arg4275Lys) c.9008G>A (p.Arg3003Lys) c.8561G>A (p.Arg2854Lys) c.7898G>A (p.Arg2633Lys) c.12413G>A (p.Arg4138Lys) | gnomAD v4 |
| 5 | g.13692049T>A | CA359188612 | DNAH5 | n.1143A>T c.13810A>T (p.Arg4604Trp) c.13765A>T (p.Arg4589Trp) c.13918A>T (p.Arg4640Trp) c.13498A>T (p.Arg4500Trp) c.12823A>T (p.Arg4275Trp) c.9007A>T (p.Arg3003Trp) c.8560A>T (p.Arg2854Trp) c.7897A>T (p.Arg2633Trp) c.12412A>T (p.Arg4138Trp) | |
| 5 | g.13692049T>C | CA359188613 | DNAH5 | n.1143A>G c.13810A>G (p.Arg4604Gly) c.13765A>G (p.Arg4589Gly) c.13918A>G (p.Arg4640Gly) c.13498A>G (p.Arg4500Gly) c.12823A>G (p.Arg4275Gly) c.9007A>G (p.Arg3003Gly) c.8560A>G (p.Arg2854Gly) c.7897A>G (p.Arg2633Gly) c.12412A>G (p.Arg4138Gly) | |
| 5 | g.13692049T>G | CA443248679 | DNAH5 | n.1143A>C c.13810A>C (p.Arg4604=) c.13765A>C (p.Arg4589=) c.13918A>C (p.Arg4640=) c.13498A>C (p.Arg4500=) c.12823A>C (p.Arg4275=) c.9007A>C (p.Arg3003=) c.8560A>C (p.Arg2854=) c.7897A>C (p.Arg2633=) c.12412A>C (p.Arg4138=) | |
| 5 | g.13692050G>A | CA113905458 | DNAH5 | n.1142C>T c.13809C>T (p.Leu4603=) c.13764C>T (p.Leu4588=) c.13917C>T (p.Leu4639=) c.13497C>T (p.Leu4499=) c.12822C>T (p.Leu4274=) c.9006C>T (p.Leu3002=) c.8559C>T (p.Leu2853=) c.7896C>T (p.Leu2632=) c.12411C>T (p.Leu4137=) | dbSNP |
| 5 | g.13692050G>C | CA443248680 | DNAH5 | n.1142C>G c.13809C>G (p.Leu4603=) c.13764C>G (p.Leu4588=) c.13917C>G (p.Leu4639=) c.13497C>G (p.Leu4499=) c.12822C>G (p.Leu4274=) c.9006C>G (p.Leu3002=) c.8559C>G (p.Leu2853=) c.7896C>G (p.Leu2632=) c.12411C>G (p.Leu4137=) | |
| 5 | g.13692050G= | CA1528395858 | DNAH5 | n.1142C= c.13809C= (p.Leu4603=) c.13764C= (p.Leu4588=) c.13917C= (p.Leu4639=) c.13497C= (p.Leu4499=) c.12822C= (p.Leu4274=) c.9006C= (p.Leu3002=) c.8559C= (p.Leu2853=) c.7896C= (p.Leu2632=) c.12411C= (p.Leu4137=) | |
| 5 | g.13692050G>T | CA443248681 | DNAH5 | n.1142C>A c.13809C>A (p.Leu4603=) c.13764C>A (p.Leu4588=) c.13917C>A (p.Leu4639=) c.13497C>A (p.Leu4499=) c.12822C>A (p.Leu4274=) c.9006C>A (p.Leu3002=) c.8559C>A (p.Leu2853=) c.7896C>A (p.Leu2632=) c.12411C>A (p.Leu4137=) | |
| 5 | g.13692051A>C | CA359188614 | DNAH5 | n.1141T>G c.13808T>G (p.Leu4603Arg) c.13763T>G (p.Leu4588Arg) c.13916T>G (p.Leu4639Arg) c.13496T>G (p.Leu4499Arg) c.12821T>G (p.Leu4274Arg) c.9005T>G (p.Leu3002Arg) c.8558T>G (p.Leu2853Arg) c.7895T>G (p.Leu2632Arg) c.12410T>G (p.Leu4137Arg) | gnomAD v4 |
| 5 | g.13692051A>G | CA359188615 | DNAH5 | n.1141T>C c.13808T>C (p.Leu4603Pro) c.13763T>C (p.Leu4588Pro) c.13916T>C (p.Leu4639Pro) c.13496T>C (p.Leu4499Pro) c.12821T>C (p.Leu4274Pro) c.9005T>C (p.Leu3002Pro) c.8558T>C (p.Leu2853Pro) c.7895T>C (p.Leu2632Pro) c.12410T>C (p.Leu4137Pro) | |
| 5 | g.13692051A>T | CA359188616 | DNAH5 | n.1141T>A c.13808T>A (p.Leu4603His) c.13763T>A (p.Leu4588His) c.13916T>A (p.Leu4639His) c.13496T>A (p.Leu4499His) c.12821T>A (p.Leu4274His) c.9005T>A (p.Leu3002His) c.8558T>A (p.Leu2853His) c.7895T>A (p.Leu2632His) c.12410T>A (p.Leu4137His) | |
| 5 | g.13692052G>A | CA3201235 | DNAH5 | n.1140C>T c.13807C>T (p.Leu4603Phe) c.13762C>T (p.Leu4588Phe) c.13915C>T (p.Leu4639Phe) c.13495C>T (p.Leu4499Phe) c.12820C>T (p.Leu4274Phe) c.9004C>T (p.Leu3002Phe) c.8557C>T (p.Leu2853Phe) c.7894C>T (p.Leu2632Phe) c.12409C>T (p.Leu4137Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13692052G>C | CA359188618 | DNAH5 | n.1140C>G c.13807C>G (p.Leu4603Val) c.13762C>G (p.Leu4588Val) c.13915C>G (p.Leu4639Val) c.13495C>G (p.Leu4499Val) c.12820C>G (p.Leu4274Val) c.9004C>G (p.Leu3002Val) c.8557C>G (p.Leu2853Val) c.7894C>G (p.Leu2632Val) c.12409C>G (p.Leu4137Val) | |
| 5 | g.13692052G= | CA1528395859 | DNAH5 | n.1140C= c.13807C= (p.Leu4603=) c.13762C= (p.Leu4588=) c.13915C= (p.Leu4639=) c.13495C= (p.Leu4499=) c.12820C= (p.Leu4274=) c.9004C= (p.Leu3002=) c.8557C= (p.Leu2853=) c.7894C= (p.Leu2632=) c.12409C= (p.Leu4137=) | |
| 5 | g.13692052G>T | CA359188617 | DNAH5 | n.1140C>A c.13807C>A (p.Leu4603Ile) c.13762C>A (p.Leu4588Ile) c.13915C>A (p.Leu4639Ile) c.13495C>A (p.Leu4499Ile) c.12820C>A (p.Leu4274Ile) c.9004C>A (p.Leu3002Ile) c.8557C>A (p.Leu2853Ile) c.7894C>A (p.Leu2632Ile) c.12409C>A (p.Leu4137Ile) | |
| 5 | g.13692053A= | CA1528395860 | DNAH5 | n.1139T= c.13806T= (p.Asp4602=) c.13761T= (p.Asp4587=) c.13914T= (p.Asp4638=) c.13494T= (p.Asp4498=) c.12819T= (p.Asp4273=) c.9003T= (p.Asp3001=) c.8556T= (p.Asp2852=) c.7893T= (p.Asp2631=) c.12408T= (p.Asp4136=) | |
| 5 | g.13692053A>C | CA359188619 | DNAH5 | n.1139T>G c.13806T>G (p.Asp4602Glu) c.13761T>G (p.Asp4587Glu) c.13914T>G (p.Asp4638Glu) c.13494T>G (p.Asp4498Glu) c.12819T>G (p.Asp4273Glu) c.9003T>G (p.Asp3001Glu) c.8556T>G (p.Asp2852Glu) c.7893T>G (p.Asp2631Glu) c.12408T>G (p.Asp4136Glu) | |
| 5 | g.13692053A>G | CA443248684 | DNAH5 | n.1139T>C c.13806T>C (p.Asp4602=) c.13761T>C (p.Asp4587=) c.13914T>C (p.Asp4638=) c.13494T>C (p.Asp4498=) c.12819T>C (p.Asp4273=) c.9003T>C (p.Asp3001=) c.8556T>C (p.Asp2852=) c.7893T>C (p.Asp2631=) c.12408T>C (p.Asp4136=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13692053A>T | CA359188620 | DNAH5 | n.1139T>A c.13806T>A (p.Asp4602Glu) c.13761T>A (p.Asp4587Glu) c.13914T>A (p.Asp4638Glu) c.13494T>A (p.Asp4498Glu) c.12819T>A (p.Asp4273Glu) c.9003T>A (p.Asp3001Glu) c.8556T>A (p.Asp2852Glu) c.7893T>A (p.Asp2631Glu) c.12408T>A (p.Asp4136Glu) | |
| 5 | g.13692054T>A | CA359188621 | DNAH5 | n.1138A>T c.13805A>T (p.Asp4602Val) c.13760A>T (p.Asp4587Val) c.13913A>T (p.Asp4638Val) c.13493A>T (p.Asp4498Val) c.12818A>T (p.Asp4273Val) c.9002A>T (p.Asp3001Val) c.8555A>T (p.Asp2852Val) c.7892A>T (p.Asp2631Val) c.12407A>T (p.Asp4136Val) | |
| 5 | g.13692054T>C | CA359188622 | DNAH5 | n.1138A>G c.13805A>G (p.Asp4602Gly) c.13760A>G (p.Asp4587Gly) c.13913A>G (p.Asp4638Gly) c.13493A>G (p.Asp4498Gly) c.12818A>G (p.Asp4273Gly) c.9002A>G (p.Asp3001Gly) c.8555A>G (p.Asp2852Gly) c.7892A>G (p.Asp2631Gly) c.12407A>G (p.Asp4136Gly) | |
| 5 | g.13692054T>G | CA359188623 | DNAH5 | n.1138A>C c.13805A>C (p.Asp4602Ala) c.13760A>C (p.Asp4587Ala) c.13913A>C (p.Asp4638Ala) c.13493A>C (p.Asp4498Ala) c.12818A>C (p.Asp4273Ala) c.9002A>C (p.Asp3001Ala) c.8555A>C (p.Asp2852Ala) c.7892A>C (p.Asp2631Ala) c.12407A>C (p.Asp4136Ala) | |
| 5 | g.13692055C>A | CA359188624 | DNAH5 | n.1137G>T c.13804G>T (p.Asp4602Tyr) c.13759G>T (p.Asp4587Tyr) c.13912G>T (p.Asp4638Tyr) c.13492G>T (p.Asp4498Tyr) c.12817G>T (p.Asp4273Tyr) c.9001G>T (p.Asp3001Tyr) c.8554G>T (p.Asp2852Tyr) c.7891G>T (p.Asp2631Tyr) c.12406G>T (p.Asp4136Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13692055C= | CA1528395861 | DNAH5 | n.1137G= c.13804G= (p.Asp4602=) c.13759G= (p.Asp4587=) c.13912G= (p.Asp4638=) c.13492G= (p.Asp4498=) c.12817G= (p.Asp4273=) c.9001G= (p.Asp3001=) c.8554G= (p.Asp2852=) c.7891G= (p.Asp2631=) c.12406G= (p.Asp4136=) | |
| 5 | g.13692055C>G | CA359188625 | DNAH5 | n.1137G>C c.13804G>C (p.Asp4602His) c.13759G>C (p.Asp4587His) c.13912G>C (p.Asp4638His) c.13492G>C (p.Asp4498His) c.12817G>C (p.Asp4273His) c.9001G>C (p.Asp3001His) c.8554G>C (p.Asp2852His) c.7891G>C (p.Asp2631His) c.12406G>C (p.Asp4136His) | |
| 5 | g.13692055C>T | CA3201236 | DNAH5 | n.1137G>A c.13804G>A (p.Asp4602Asn) c.13759G>A (p.Asp4587Asn) c.13912G>A (p.Asp4638Asn) c.13492G>A (p.Asp4498Asn) c.12817G>A (p.Asp4273Asn) c.9001G>A (p.Asp3001Asn) c.8554G>A (p.Asp2852Asn) c.7891G>A (p.Asp2631Asn) c.12406G>A (p.Asp4136Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.13692056C>A | CA443248713 | DNAH5 | n.1136G>T c.13803G>T (p.Val4601=) c.13758G>T (p.Val4586=) c.13911G>T (p.Val4637=) c.13491G>T (p.Val4497=) c.12816G>T (p.Val4272=) c.9000G>T (p.Val3000=) c.8553G>T (p.Val2851=) c.7890G>T (p.Val2630=) c.12405G>T (p.Val4135=) |