Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.83407034dup | CA2840228697 | SEMA3E | c.633+65dup (n.633+65dup) c.813+65dup (n.813+65dup) n.798+65dup | |
7 | g.83407034del | CA2683557381 | SEMA3E | c.633+65del (n.633+65del) c.813+65del (n.813+65del) n.798+65del | gnomAD v4 |
7 | g.83407034A= | CA1721679464 | SEMA3E | c.633+63T= (n.633+63T=) c.813+63T= (n.813+63T=) n.798+63T= | |
7 | g.83407034A>T | CA1103853861 | SEMA3E | c.633+63T>A (n.633+63T>A) c.813+63T>A (n.813+63T>A) n.798+63T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407035C>T | CA2683557382 | SEMA3E | c.633+62G>A (n.633+62G>A) c.813+62G>A (n.813+62G>A) n.798+62G>A | gnomAD v4 |
7 | g.83407037del | CA2578928267 | SEMA3E | c.633+61del (n.633+61del) c.813+61del (n.813+61del) n.798+61del | |
7 | g.83407037T>A | CA2683557383 | SEMA3E | c.633+60A>T (n.633+60A>T) c.813+60A>T (n.813+60A>T) n.798+60A>T | gnomAD v4 |
7 | g.83407038A>T | CA2578928268 | SEMA3E | c.633+59T>A (n.633+59T>A) c.813+59T>A (n.813+59T>A) n.798+59T>A | gnomAD v4 |
7 | g.83407039A= | CA1721679465 | SEMA3E | c.633+58T= (n.633+58T=) c.813+58T= (n.813+58T=) n.798+58T= | |
7 | g.83407039A>T | CA161171085 | SEMA3E | c.633+58T>A (n.633+58T>A) c.813+58T>A (n.813+58T>A) n.798+58T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407040T>A | CA2683557384 | SEMA3E | c.633+57A>T (n.633+57A>T) c.813+57A>T (n.813+57A>T) n.798+57A>T | gnomAD v4 |
7 | g.83407041A>G | CA2683557386 | SEMA3E | c.633+56T>C (n.633+56T>C) c.813+56T>C (n.813+56T>C) n.798+56T>C | gnomAD v4 |
7 | g.83407043del | CA2683557385 | SEMA3E | c.633+56del (n.633+56del) c.813+56del (n.813+56del) n.798+56del | gnomAD v4 |
7 | g.83407042A= | CA1721679466 | SEMA3E | c.633+55T= (n.633+55T=) c.813+55T= (n.813+55T=) n.798+55T= | |
7 | g.83407042A>G | CA2683557387 | SEMA3E | c.633+55T>C (n.633+55T>C) c.813+55T>C (n.813+55T>C) n.798+55T>C | gnomAD v4 |
7 | g.83407042A>T | CA843003511 | SEMA3E | c.633+55T>A (n.633+55T>A) c.813+55T>A (n.813+55T>A) n.798+55T>A | dbSNP |
7 | g.83407043A>G | CA2683557388 | SEMA3E | c.633+54T>C (n.633+54T>C) c.813+54T>C (n.813+54T>C) n.798+54T>C | gnomAD v4 |
7 | g.83407043A>T | CA2683557389 | SEMA3E | c.633+54T>A (n.633+54T>A) c.813+54T>A (n.813+54T>A) n.798+54T>A | gnomAD v4 |
7 | g.83407044G>A | CA1721679468 | SEMA3E | c.633+53C>T (n.633+53C>T) c.813+53C>T (n.813+53C>T) n.798+53C>T | dbSNP gnomAD v4 |
7 | g.83407044G= | CA1721679467 | SEMA3E | c.633+53C= (n.633+53C=) c.813+53C= (n.813+53C=) n.798+53C= | |
7 | g.83407044G>T | CA2683557390 | SEMA3E | c.633+53C>A (n.633+53C>A) c.813+53C>A (n.813+53C>A) n.798+53C>A | gnomAD v4 |
7 | g.83407045G>A | CA2683557392 | SEMA3E | c.633+52C>T (n.633+52C>T) c.813+52C>T (n.813+52C>T) n.798+52C>T | gnomAD v4 |
7 | g.83407045G>C | CA2683557391 | SEMA3E | c.633+52C>G (n.633+52C>G) c.813+52C>G (n.813+52C>G) n.798+52C>G | gnomAD v4 |
7 | g.83407045G= | CA1721679469 | SEMA3E | c.633+52C= (n.633+52C=) c.813+52C= (n.813+52C=) n.798+52C= | |
7 | g.83407045G>T | CA1721679470 | SEMA3E | c.633+52C>A (n.633+52C>A) c.813+52C>A (n.813+52C>A) n.798+52C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407046C>A | CA2776732706 | SEMA3E | c.633+51G>T (n.633+51G>T) c.813+51G>T (n.813+51G>T) n.798+51G>T | |
7 | g.83407046C= | CA1721679471 | SEMA3E | c.633+51G= (n.633+51G=) c.813+51G= (n.813+51G=) n.798+51G= | |
7 | g.83407046C>T | CA575816817 | SEMA3E | c.633+51G>A (n.633+51G>A) c.813+51G>A (n.813+51G>A) n.798+51G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407047C>A | CA1103853862 | SEMA3E | c.633+50G>T (n.633+50G>T) c.813+50G>T (n.813+50G>T) n.798+50G>T | gnomAD v3 gnomAD v4 |
7 | g.83407047C>T | CA2840228698 | SEMA3E | c.633+50G>A (n.633+50G>A) c.813+50G>A (n.813+50G>A) n.798+50G>A | |
7 | g.83407049G>A | CA2683557393 | SEMA3E | c.633+48C>T (n.633+48C>T) c.813+48C>T (n.813+48C>T) n.798+48C>T | gnomAD v4 |
7 | g.83407049G>T | CA2683557394 | SEMA3E | c.633+48C>A (n.633+48C>A) c.813+48C>A (n.813+48C>A) n.798+48C>A | gnomAD v4 |
7 | g.83407050A= | CA1721679472 | SEMA3E | c.633+47T= (n.633+47T=) c.813+47T= (n.813+47T=) n.798+47T= | |
7 | g.83407050A>G | CA161171093 | SEMA3E | c.633+47T>C (n.633+47T>C) c.813+47T>C (n.813+47T>C) n.798+47T>C | dbSNP |
7 | g.83407051C>A | CA4322203 | SEMA3E | c.633+46G>T (n.633+46G>T) c.813+46G>T (n.813+46G>T) n.798+46G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407051C= | CA1721679473 | SEMA3E | c.633+46G= (n.633+46G=) c.813+46G= (n.813+46G=) n.798+46G= | |
7 | g.83407051C>G | CA4322202 | SEMA3E | c.633+46G>C (n.633+46G>C) c.813+46G>C (n.813+46G>C) n.798+46G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407051C>T | CA575816823 | SEMA3E | c.633+46G>A (n.633+46G>A) c.813+46G>A (n.813+46G>A) n.798+46G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407053A= | CA1721679474 | SEMA3E | c.633+44T= (n.633+44T=) c.813+44T= (n.813+44T=) n.798+44T= | |
7 | g.83407053A>G | CA4322204 | SEMA3E | c.633+44T>C (n.633+44T>C) c.813+44T>C (n.813+44T>C) n.798+44T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407056A= | CA1721679475 | SEMA3E | c.633+41T= (n.633+41T=) c.813+41T= (n.813+41T=) n.798+41T= | |
7 | g.83407056A>C | CA575816825 | SEMA3E | c.633+41T>G (n.633+41T>G) c.813+41T>G (n.813+41T>G) n.798+41T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407057A= | CA1721679476 | SEMA3E | c.633+40T= (n.633+40T=) c.813+40T= (n.813+40T=) n.798+40T= | |
7 | g.83407057A>G | CA1721679477 | SEMA3E | c.633+40T>C (n.633+40T>C) c.813+40T>C (n.813+40T>C) n.798+40T>C | dbSNP gnomAD v4 |
7 | g.83407059T>C | CA2683557395 | SEMA3E | c.633+38A>G (n.633+38A>G) c.813+38A>G (n.813+38A>G) n.798+38A>G | gnomAD v4 |
7 | g.83407060G>C | CA2683557396 | SEMA3E | c.633+37C>G (n.633+37C>G) c.813+37C>G (n.813+37C>G) n.798+37C>G | gnomAD v4 |
7 | g.83407060G>T | CA2683557397 | SEMA3E | c.633+37C>A (n.633+37C>A) c.813+37C>A (n.813+37C>A) n.798+37C>A | gnomAD v4 |
7 | g.83407061T>G | CA2578928269 | SEMA3E | c.633+36A>C (n.633+36A>C) c.813+36A>C (n.813+36A>C) n.798+36A>C | gnomAD v4 |
7 | g.83407062G>A | CA2683557399 | SEMA3E | c.633+35C>T (n.633+35C>T) c.813+35C>T (n.813+35C>T) n.798+35C>T | gnomAD v4 |
7 | g.83407062G>T | CA2683557398 | SEMA3E | c.633+35C>A (n.633+35C>A) c.813+35C>A (n.813+35C>A) n.798+35C>A | gnomAD v4 |
7 | g.83407063A= | CA1721679478 | SEMA3E | c.633+34T= (n.633+34T=) c.813+34T= (n.813+34T=) n.798+34T= | |
7 | g.83407063A>T | CA843003532 | SEMA3E | c.633+34T>A (n.633+34T>A) c.813+34T>A (n.813+34T>A) n.798+34T>A | dbSNP |
7 | g.83407064dup | CA2838937859 | SEMA3E | c.633+33dup (n.633+33dup) c.813+33dup (n.813+33dup) n.798+33dup | |
7 | g.83407066T>C | CA2683557400 | SEMA3E | c.633+31A>G (n.633+31A>G) c.813+31A>G (n.813+31A>G) n.798+31A>G | gnomAD v4 |
7 | g.83407068A>G | CA2683557401 | SEMA3E | c.633+29T>C (n.633+29T>C) c.813+29T>C (n.813+29T>C) n.798+29T>C | gnomAD v4 |
7 | g.83407068A>T | CA2840228699 | SEMA3E | c.633+29T>A (n.633+29T>A) c.813+29T>A (n.813+29T>A) n.798+29T>A | |
7 | g.83407069G>A | CA2578928270 | SEMA3E | c.633+28C>T (n.633+28C>T) c.813+28C>T (n.813+28C>T) n.798+28C>T | |
7 | g.83407070C>A | CA4322205 | SEMA3E | c.633+27G>T (n.633+27G>T) c.813+27G>T (n.813+27G>T) n.798+27G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407070C= | CA1721679479 | SEMA3E | c.633+27G= (n.633+27G=) c.813+27G= (n.813+27G=) n.798+27G= | |
7 | g.83407070C>G | CA2683557402 | SEMA3E | c.633+27G>C (n.633+27G>C) c.813+27G>C (n.813+27G>C) n.798+27G>C | gnomAD v4 |
7 | g.83407071A= | CA1721679480 | SEMA3E | c.633+26T= (n.633+26T=) c.813+26T= (n.813+26T=) n.798+26T= | |
7 | g.83407072A>T | CA2715075449 | SEMA3E | c.633+25T>A (n.633+25T>A) c.813+25T>A (n.813+25T>A) n.798+25T>A | dbSNP |
7 | g.83407074_83407082dup | CA575816827 | SEMA3E | c.633+17_633+25dup (n.633+17_633+25dup) c.813+17_813+25dup (n.813+17_813+25dup) n.798+17_798+25dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407073G>T | CA2683557403 | SEMA3E | c.633+24C>A (n.633+24C>A) c.813+24C>A (n.813+24C>A) n.798+24C>A | gnomAD v4 |
7 | g.83407074_83407077delinsCATA | CA1721679481 | SEMA3E | c.633+20_633+23delinsTATG (n.633+20_633+23delinsTATG) c.813+20_813+23delinsTATG (n.813+20_813+23delinsTATG) n.798+20_798+23delinsTATG | |
7 | g.83407077_83407079del | CA575816831 | SEMA3E | c.633+20_633+22del (n.633+20_633+22del) c.813+20_813+22del (n.813+20_813+22del) n.798+20_798+22del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407076T>C | CA575816834 | SEMA3E | c.633+21A>G (n.633+21A>G) c.813+21A>G (n.813+21A>G) n.798+21A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407076T= | CA1721679482 | SEMA3E | c.633+21A= (n.633+21A=) c.813+21A= (n.813+21A=) n.798+21A= | |
7 | g.83407078A= | CA1721679483 | SEMA3E | c.633+19T= (n.633+19T=) c.813+19T= (n.813+19T=) n.798+19T= | |
7 | g.83407078A>G | CA4322206 | SEMA3E | c.633+19T>C (n.633+19T>C) c.813+19T>C (n.813+19T>C) n.798+19T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407079T>C | CA575816837 | SEMA3E | c.633+18A>G (n.633+18A>G) c.813+18A>G (n.813+18A>G) n.798+18A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407079T= | CA1721679484 | SEMA3E | c.633+18A= (n.633+18A=) c.813+18A= (n.813+18A=) n.798+18A= | |
7 | g.83407079_83407081delinsTGA | CA1721679485 | SEMA3E | c.633+16_633+18delinsTCA (n.633+16_633+18delinsTCA) c.813+16_813+18delinsTCA (n.813+16_813+18delinsTCA) n.798+16_798+18delinsTCA | |
7 | g.83407080G>A | CA2683557404 | SEMA3E | c.633+17C>T (n.633+17C>T) c.813+17C>T (n.813+17C>T) n.798+17C>T | gnomAD v4 |
7 | g.83407080G>T | CA2683557405 | SEMA3E | c.633+17C>A (n.633+17C>A) c.813+17C>A (n.813+17C>A) n.798+17C>A | gnomAD v4 |
7 | g.83407086_83407087del | CA4322207 | SEMA3E | c.633+16_633+17del (n.633+16_633+17del) c.813+16_813+17del (n.813+16_813+17del) n.798+16_798+17del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407082G>A | CA2683557406 | SEMA3E | c.633+15C>T (n.633+15C>T) c.813+15C>T (n.813+15C>T) n.798+15C>T | gnomAD v4 |
7 | g.83407083A= | CA1721679486 | SEMA3E | c.633+14T= (n.633+14T=) c.813+14T= (n.813+14T=) n.798+14T= | |
7 | g.83407083A>G | CA1103853869 | SEMA3E | c.633+14T>C (n.633+14T>C) c.813+14T>C (n.813+14T>C) n.798+14T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407084G= | CA1721679487 | SEMA3E | c.633+13C= (n.633+13C=) c.813+13C= (n.813+13C=) n.798+13C= | |
7 | g.83407084G>T | CA575816842 | SEMA3E | c.633+13C>A (n.633+13C>A) c.813+13C>A (n.813+13C>A) n.798+13C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407086G>A | CA161171122 | SEMA3E | c.633+11C>T (n.633+11C>T) c.813+11C>T (n.813+11C>T) n.798+11C>T | dbSNP |
7 | g.83407086G= | CA1721679488 | SEMA3E | c.633+11C= (n.633+11C=) c.813+11C= (n.813+11C=) n.798+11C= | |
7 | g.83407087A= | CA1721679490 | SEMA3E | c.633+10T= (n.633+10T=) c.813+10T= (n.813+10T=) n.798+10T= | |
7 | g.83407087A>C | CA1721679489 | SEMA3E | c.633+10T>G (n.633+10T>G) c.813+10T>G (n.813+10T>G) n.798+10T>G | dbSNP gnomAD v4 |
7 | g.83407088A>C | CA2683557407 | SEMA3E | c.633+9T>G (n.633+9T>G) c.813+9T>G (n.813+9T>G) n.798+9T>G | gnomAD v4 |
7 | g.83407090G>C | CA2578928271 | SEMA3E | c.633+7C>G (n.633+7C>G) c.813+7C>G (n.813+7C>G) n.798+7C>G | gnomAD v4 |
7 | g.83407090G>T | CA2840228700 | SEMA3E | c.633+7C>A (n.633+7C>A) c.813+7C>A (n.813+7C>A) n.798+7C>A | |
7 | g.83407091C= | CA1721679491 | SEMA3E | c.633+6G= (n.633+6G=) c.813+6G= (n.813+6G=) n.798+6G= | |
7 | g.83407091C>G | CA843003553 | SEMA3E | c.633+6G>C (n.633+6G>C) c.813+6G>C (n.813+6G>C) n.798+6G>C | dbSNP |
7 | g.83407091C>T | CA4322208 | SEMA3E | c.633+6G>A (n.633+6G>A) c.813+6G>A (n.813+6G>A) n.798+6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407092C>T | CA2683557408 | SEMA3E | c.633+5G>A (n.633+5G>A) c.813+5G>A (n.813+5G>A) n.798+5G>A | gnomAD v4 |
7 | g.83407093T>G | CA2578928272 | SEMA3E | c.633+4A>C (n.633+4A>C) c.813+4A>C (n.813+4A>C) n.798+4A>C | |
7 | g.83407095A>C | CA367930145 | SEMA3E | c.633+2T>G (n.633+2T>G) c.813+2T>G (n.813+2T>G) n.798+2T>G | |
7 | g.83407095A>G | CA367930146 | SEMA3E | c.633+2T>C (n.633+2T>C) c.813+2T>C (n.813+2T>C) n.798+2T>C | |
7 | g.83407095A>T | CA367930144 | SEMA3E | c.633+2T>A (n.633+2T>A) c.813+2T>A (n.813+2T>A) n.798+2T>A | |
7 | g.83407096C>A | CA367930147 | SEMA3E | c.633+1G>T (n.633+1G>T) c.813+1G>T (n.813+1G>T) n.798+1G>T | |
7 | g.83407096C>G | CA367930148 | SEMA3E | c.633+1G>C (n.633+1G>C) c.813+1G>C (n.813+1G>C) n.798+1G>C | |
7 | g.83407096C>T | CA367930149 | SEMA3E | c.633+1G>A (n.633+1G>A) c.813+1G>A (n.813+1G>A) n.798+1G>A | gnomAD v4 |
7 | g.83407097C>A | CA456135615 | SEMA3E | c.633G>T (p.Val211=) c.813G>T (p.Val271=) n.798G>T | |
7 | g.83407097C>G | CA456135612 | SEMA3E | c.633G>C (p.Val211=) c.813G>C (p.Val271=) n.798G>C | |
7 | g.83407097C>T | CA456135614 | SEMA3E | c.633G>A (p.Val211=) c.813G>A (p.Val271=) n.798G>A | |
7 | g.83407098A>C | CA367930150 | SEMA3E | c.632T>G (p.Val211Gly) c.812T>G (p.Val271Gly) n.797T>G | |
7 | g.83407098A>G | CA367930151 | SEMA3E | c.632T>C (p.Val211Ala) c.812T>C (p.Val271Ala) n.797T>C | |
7 | g.83407098A>T | CA367930152 | SEMA3E | c.632T>A (p.Val211Glu) c.812T>A (p.Val271Glu) n.797T>A | |
7 | g.83407099C>A | CA367930153 | SEMA3E | c.631G>T (p.Val211Leu) c.811G>T (p.Val271Leu) n.796G>T | gnomAD v4 |
7 | g.83407099C>G | CA367930155 | SEMA3E | c.631G>C (p.Val211Leu) c.811G>C (p.Val271Leu) n.796G>C | |
7 | g.83407099C>T | CA367930156 | SEMA3E | c.631G>A (p.Val211Met) c.811G>A (p.Val271Met) n.796G>A | gnomAD v4 |
7 | g.83407100A>C | CA367930157 | SEMA3E | c.630T>G (p.Cys210Trp) c.810T>G (p.Cys270Trp) n.795T>G | gnomAD v4 |
7 | g.83407100A>G | CA456135622 | SEMA3E | c.630T>C (p.Cys210=) c.810T>C (p.Cys270=) n.795T>C | |
7 | g.83407100A>T | CA367930158 | SEMA3E | c.630T>A (p.Cys210Ter) c.810T>A (p.Cys270Ter) n.795T>A | |
7 | g.83407101C>A | CA367930160 | SEMA3E | c.629G>T (p.Cys210Phe) c.809G>T (p.Cys270Phe) n.794G>T | |
7 | g.83407101C= | CA1721679493 | SEMA3E | c.629G= (p.Cys210=) c.809G= (p.Cys270=) n.794G= | |
7 | g.83407101C>G | CA367930161 | SEMA3E | c.629G>C (p.Cys210Ser) c.809G>C (p.Cys270Ser) n.794G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407101C>T | CA367930159 | SEMA3E | c.629G>A (p.Cys210Tyr) c.809G>A (p.Cys270Tyr) n.794G>A | |
7 | g.83407101_83407103delinsCAG | CA1721679492 | SEMA3E | c.627_629delinsCTG (p.Leu209=) c.807_809delinsCTG (p.Leu269=) n.792_794delinsCTG | |
7 | g.83407102A>C | CA367930162 | SEMA3E | c.628T>G (p.Cys210Gly) c.808T>G (p.Cys270Gly) n.793T>G | |
7 | g.83407102A>G | CA367930163 | SEMA3E | c.628T>C (p.Cys210Arg) c.808T>C (p.Cys270Arg) n.793T>C | |
7 | g.83407102A>T | CA367930164 | SEMA3E | c.628T>A (p.Cys210Ser) c.808T>A (p.Cys270Ser) n.793T>A | |
7 | g.83407104_83407105del | CA4322209 | SEMA3E | c.627_628del (p.Val211GlufsTer2) c.807_808del (p.Val271GlufsTer2) n.792_793del | dbSNP ExAC gnomAD v4 |
7 | g.83407103G>A | CA4322210 | SEMA3E | c.627C>T (p.Leu209=) c.807C>T (p.Leu269=) n.792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407103G>C | CA456135630 | SEMA3E | c.627C>G (p.Leu209=) c.807C>G (p.Leu269=) n.792C>G | |
7 | g.83407103G= | CA1721679494 | SEMA3E | c.627C= (p.Leu209=) c.807C= (p.Leu269=) n.792C= | |
7 | g.83407103G>T | CA456135632 | SEMA3E | c.627C>A (p.Leu209=) c.807C>A (p.Leu269=) n.792C>A | |
7 | g.83407104A= | CA1721679495 | SEMA3E | c.626T= (p.Leu209=) c.806T= (p.Leu269=) n.791T= | |
7 | g.83407104A>C | CA161171149 | SEMA3E | c.626T>G (p.Leu209Arg) c.806T>G (p.Leu269Arg) n.791T>G | dbSNP |
7 | g.83407104A>G | CA4322211 | SEMA3E | c.626T>C (p.Leu209Pro) c.806T>C (p.Leu269Pro) n.791T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407104A>T | CA367930165 | SEMA3E | c.626T>A (p.Leu209His) c.806T>A (p.Leu269His) n.791T>A | |
7 | g.83407105G>A | CA367930166 | SEMA3E | c.625C>T (p.Leu209Phe) c.805C>T (p.Leu269Phe) n.790C>T | |
7 | g.83407105G>C | CA367930167 | SEMA3E | c.625C>G (p.Leu209Val) c.805C>G (p.Leu269Val) n.790C>G | |
7 | g.83407105G>T | CA367930168 | SEMA3E | c.625C>A (p.Leu209Ile) c.805C>A (p.Leu269Ile) n.790C>A | |
7 | g.83407106T>A | CA456135640 | SEMA3E | c.624A>T (p.Arg208=) c.804A>T (p.Arg268=) n.789A>T | |
7 | g.83407106T>C | CA456135641 | SEMA3E | c.624A>G (p.Arg208=) c.804A>G (p.Arg268=) n.789A>G | |
7 | g.83407106T>G | CA456135642 | SEMA3E | c.624A>C (p.Arg208=) c.804A>C (p.Arg268=) n.789A>C | |
7 | g.83407107C>A | CA367930169 | SEMA3E | c.623G>T (p.Arg208Leu) c.803G>T (p.Arg268Leu) n.788G>T | |
7 | g.83407107C= | CA1721679496 | SEMA3E | c.623G= (p.Arg208=) c.803G= (p.Arg268=) n.788G= | |
7 | g.83407107C>G | CA367930170 | SEMA3E | c.623G>C (p.Arg208Pro) c.803G>C (p.Arg268Pro) n.788G>C | |
7 | g.83407107C>T | CA4322212 | SEMA3E | c.623G>A (p.Arg208Gln) c.803G>A (p.Arg268Gln) n.788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407108G>A | CA367930171 | SEMA3E | c.622C>T (p.Arg208Ter) c.802C>T (p.Arg268Ter) n.787C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.83407108G>C | CA367930172 | SEMA3E | c.622C>G (p.Arg208Gly) c.802C>G (p.Arg268Gly) n.787C>G | |
7 | g.83407108G= | CA1721679497 | SEMA3E | c.622C= (p.Arg208=) c.802C= (p.Arg268=) n.787C= | |
7 | g.83407108G>T | CA4322213 | SEMA3E | c.622C>A (p.Arg208=) c.802C>A (p.Arg268=) n.787C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407109C>A | CA456135649 | SEMA3E | c.621G>T (p.Gly207=) c.801G>T (p.Gly267=) n.786G>T | |
7 | g.83407109C= | CA1721679498 | SEMA3E | c.621G= (p.Gly207=) c.801G= (p.Gly267=) n.786G= | |
7 | g.83407109C>G | CA456135650 | SEMA3E | c.621G>C (p.Gly207=) c.801G>C (p.Gly267=) n.786G>C | |
7 | g.83407109C>T | CA456135651 | SEMA3E | c.621G>A (p.Gly207=) c.801G>A (p.Gly267=) n.786G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407110C>A | CA367930173 | SEMA3E | c.620G>T (p.Gly207Val) c.800G>T (p.Gly267Val) n.785G>T | |
7 | g.83407110C>G | CA367930174 | SEMA3E | c.620G>C (p.Gly207Ala) c.800G>C (p.Gly267Ala) n.785G>C | |
7 | g.83407110C>T | CA367930175 | SEMA3E | c.620G>A (p.Gly207Glu) c.800G>A (p.Gly267Glu) n.785G>A | |
7 | g.83407111C>A | CA367930176 | SEMA3E | c.619G>T (p.Gly207Trp) c.799G>T (p.Gly267Trp) n.784G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407111C= | CA1721679499 | SEMA3E | c.619G= (p.Gly207=) c.799G= (p.Gly267=) n.784G= | |
7 | g.83407111C>G | CA367930177 | SEMA3E | c.619G>C (p.Gly207Arg) c.799G>C (p.Gly267Arg) n.784G>C | |
7 | g.83407111C>T | CA4322214 | SEMA3E | c.619G>A (p.Gly207Arg) c.799G>A (p.Gly267Arg) n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407112G>A | CA456135657 | SEMA3E | c.618C>T (p.Val206=) c.798C>T (p.Val266=) n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407112G>C | CA456135658 | SEMA3E | c.618C>G (p.Val206=) c.798C>G (p.Val266=) n.783C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407112G= | CA1721679500 | SEMA3E | c.618C= (p.Val206=) c.798C= (p.Val266=) n.783C= | |
7 | g.83407112G>T | CA456135660 | SEMA3E | c.618C>A (p.Val206=) c.798C>A (p.Val266=) n.783C>A | |
7 | g.83407113A>C | CA367930180 | SEMA3E | c.617T>G (p.Val206Gly) c.797T>G (p.Val266Gly) n.782T>G | |
7 | g.83407113A>G | CA367930178 | SEMA3E | c.617T>C (p.Val206Ala) c.797T>C (p.Val266Ala) n.782T>C | |
7 | g.83407113A>T | CA367930179 | SEMA3E | c.617T>A (p.Val206Asp) c.797T>A (p.Val266Asp) n.782T>A | |
7 | g.83407114C>A | CA367930181 | SEMA3E | c.616G>T (p.Val206Phe) c.796G>T (p.Val266Phe) n.781G>T | |
7 | g.83407114C= | CA1721679501 | SEMA3E | c.616G= (p.Val206=) c.796G= (p.Val266=) n.781G= | |
7 | g.83407114C>G | CA367930182 | SEMA3E | c.616G>C (p.Val206Leu) c.796G>C (p.Val266Leu) n.781G>C | |
7 | g.83407114C>T | CA4322215 | SEMA3E | c.616G>A (p.Val206Ile) c.796G>A (p.Val266Ile) n.781G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407115C>A | CA367930183 | SEMA3E | c.615G>T (p.Arg205Ser) c.795G>T (p.Arg265Ser) n.780G>T | ClinVar dbSNP |
7 | g.83407115C>G | CA367930184 | SEMA3E | c.615G>C (p.Arg205Ser) c.795G>C (p.Arg265Ser) n.780G>C | |
7 | g.83407115C>T | CA456135668 | SEMA3E | c.615G>A (p.Arg205=) c.795G>A (p.Arg265=) n.780G>A | |
7 | g.83407116C>A | CA367930187 | SEMA3E | c.614G>T (p.Arg205Met) c.794G>T (p.Arg265Met) n.779G>T | |
7 | g.83407116C>G | CA367930185 | SEMA3E | c.614G>C (p.Arg205Thr) c.794G>C (p.Arg265Thr) n.779G>C | |
7 | g.83407116C>T | CA367930186 | SEMA3E | c.614G>A (p.Arg205Lys) c.794G>A (p.Arg265Lys) n.779G>A | |
7 | g.83407117T>A | CA367930188 | SEMA3E | c.613A>T (p.Arg205Trp) c.793A>T (p.Arg265Trp) n.778A>T | |
7 | g.83407117T>C | CA367930189 | SEMA3E | c.613A>G (p.Arg205Gly) c.793A>G (p.Arg265Gly) n.778A>G | ClinVar dbSNP |
7 | g.83407117T>G | CA456135676 | SEMA3E | c.613A>C (p.Arg205=) c.793A>C (p.Arg265=) n.778A>C | |
7 | g.83407118G>A | CA456135678 | SEMA3E | c.612C>T (p.Thr204=) c.792C>T (p.Thr264=) n.777C>T | gnomAD v4 |
7 | g.83407118G>C | CA456135680 | SEMA3E | c.612C>G (p.Thr204=) c.792C>G (p.Thr264=) n.777C>G | |
7 | g.83407118G= | CA1721679502 | SEMA3E | c.612C= (p.Thr204=) c.792C= (p.Thr264=) n.777C= | |
7 | g.83407118G>T | CA456135681 | SEMA3E | c.612C>A (p.Thr204=) c.792C>A (p.Thr264=) n.777C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407119G>A | CA367930190 | SEMA3E | c.611C>T (p.Thr204Ile) c.791C>T (p.Thr264Ile) n.776C>T | |
7 | g.83407119G>C | CA4322216 | SEMA3E | c.611C>G (p.Thr204Ser) c.791C>G (p.Thr264Ser) n.776C>G | dbSNP ExAC gnomAD v4 |
7 | g.83407119G= | CA1721679503 | SEMA3E | c.611C= (p.Thr204=) c.791C= (p.Thr264=) n.776C= | |
7 | g.83407119G>T | CA367930191 | SEMA3E | c.611C>A (p.Thr204Asn) c.791C>A (p.Thr264Asn) n.776C>A | |
7 | g.83407120T>A | CA367930192 | SEMA3E | c.610A>T (p.Thr204Ser) c.790A>T (p.Thr264Ser) n.775A>T | |
7 | g.83407120T>C | CA367930193 | SEMA3E | c.610A>G (p.Thr204Ala) c.790A>G (p.Thr264Ala) n.775A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407120T>G | CA367930194 | SEMA3E | c.610A>C (p.Thr204Pro) c.790A>C (p.Thr264Pro) n.775A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407120T= | CA1721679504 | SEMA3E | c.610A= (p.Thr204=) c.790A= (p.Thr264=) n.775A= | |
7 | g.83407121G>A | CA456135691 | SEMA3E | c.609C>T (p.Tyr203=) c.789C>T (p.Tyr263=) n.774C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407121G>C | CA367930195 | SEMA3E | c.609C>G (p.Tyr203Ter) c.789C>G (p.Tyr263Ter) n.774C>G | |
7 | g.83407121G= | CA1721679505 | SEMA3E | c.609C= (p.Tyr203=) c.789C= (p.Tyr263=) n.774C= | |
7 | g.83407121G>T | CA367930196 | SEMA3E | c.609C>A (p.Tyr203Ter) c.789C>A (p.Tyr263Ter) n.774C>A | |
7 | g.83407122T>A | CA367930197 | SEMA3E | c.608A>T (p.Tyr203Phe) c.788A>T (p.Tyr263Phe) n.773A>T | |
7 | g.83407122T>C | CA367930198 | SEMA3E | c.608A>G (p.Tyr203Cys) c.788A>G (p.Tyr263Cys) n.773A>G | |
7 | g.83407122T>G | CA367930199 | SEMA3E | c.608A>C (p.Tyr203Ser) c.788A>C (p.Tyr263Ser) n.773A>C | |
7 | g.83407123A>C | CA367930200 | SEMA3E | c.607T>G (p.Tyr203Asp) c.787T>G (p.Tyr263Asp) n.772T>G | |
7 | g.83407123A>G | CA367930202 | SEMA3E | c.607T>C (p.Tyr203His) c.787T>C (p.Tyr263His) n.772T>C | |
7 | g.83407123A>T | CA367930201 | SEMA3E | c.607T>A (p.Tyr203Asn) c.787T>A (p.Tyr263Asn) n.772T>A | |
7 | g.83407125del | CA2683557409 | SEMA3E | c.607del (p.Tyr203ThrfsTer9) c.787del (p.Tyr263ThrfsTer9) n.772del | gnomAD v4 |
7 | g.83407124A>C | CA367930203 | SEMA3E | c.606T>G (p.Ile202Met) c.786T>G (p.Ile262Met) n.771T>G | gnomAD v4 |
7 | g.83407124A>G | CA456135700 | SEMA3E | c.606T>C (p.Ile202=) c.786T>C (p.Ile262=) n.771T>C | |
7 | g.83407124A>T | CA456135698 | SEMA3E | c.606T>A (p.Ile202=) c.786T>A (p.Ile262=) n.771T>A | |
7 | g.83407125A>C | CA367930204 | SEMA3E | c.605T>G (p.Ile202Ser) c.785T>G (p.Ile262Ser) n.770T>G | |
7 | g.83407125A>G | CA367930205 | SEMA3E | c.605T>C (p.Ile202Thr) c.785T>C (p.Ile262Thr) n.770T>C | |
7 | g.83407125A>T | CA367930206 | SEMA3E | c.605T>A (p.Ile202Asn) c.785T>A (p.Ile262Asn) n.770T>A | |
7 | g.83407126T>A | CA367930207 | SEMA3E | c.604A>T (p.Ile202Phe) c.784A>T (p.Ile262Phe) n.769A>T | gnomAD v4 |
7 | g.83407126T>C | CA367930208 | SEMA3E | c.604A>G (p.Ile202Val) c.784A>G (p.Ile262Val) n.769A>G | |
7 | g.83407126T>G | CA367930209 | SEMA3E | c.604A>C (p.Ile202Leu) c.784A>C (p.Ile262Leu) n.769A>C | |
7 | g.83407127T>A | CA456135709 | SEMA3E | c.603A>T (p.Ala201=) c.783A>T (p.Ala261=) n.768A>T | |
7 | g.83407127T>C | CA456135711 | SEMA3E | c.603A>G (p.Ala201=) c.783A>G (p.Ala261=) n.768A>G | |
7 | g.83407127T>G | CA456135713 | SEMA3E | c.603A>C (p.Ala201=) c.783A>C (p.Ala261=) n.768A>C | |
7 | g.83407128G>A | CA367930210 | SEMA3E | c.602C>T (p.Ala201Val) c.782C>T (p.Ala261Val) n.767C>T | |
7 | g.83407128G>C | CA367930211 | SEMA3E | c.602C>G (p.Ala201Gly) c.782C>G (p.Ala261Gly) n.767C>G | gnomAD v4 |
7 | g.83407128G>T | CA367930212 | SEMA3E | c.602C>A (p.Ala201Glu) c.782C>A (p.Ala261Glu) n.767C>A | |
7 | g.83407129C>A | CA367930213 | SEMA3E | c.601G>T (p.Ala201Ser) c.781G>T (p.Ala261Ser) n.766G>T | dbSNP gnomAD v2 |
7 | g.83407129C= | CA1721679506 | SEMA3E | c.601G= (p.Ala201=) c.781G= (p.Ala261=) n.766G= | |
7 | g.83407129C>G | CA4322217 | SEMA3E | c.601G>C (p.Ala201Pro) c.781G>C (p.Ala261Pro) n.766G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407129C>T | CA4322218 | SEMA3E | c.601G>A (p.Ala201Thr) c.781G>A (p.Ala261Thr) n.766G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.83407130G>A | CA4322219 | SEMA3E | c.600C>T (p.His200=) c.780C>T (p.His260=) n.765C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407130G>C | CA367930214 | SEMA3E | c.600C>G (p.His200Gln) c.780C>G (p.His260Gln) n.765C>G | dbSNP gnomAD v4 |
7 | g.83407130G= | CA1721679507 | SEMA3E | c.600C= (p.His200=) c.780C= (p.His260=) n.765C= | |
7 | g.83407130G>T | CA4322220 | SEMA3E | c.600C>A (p.His200Gln) c.780C>A (p.His260Gln) n.765C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407131T>A | CA367930215 | SEMA3E | c.599A>T (p.His200Leu) c.779A>T (p.His260Leu) n.764A>T | |
7 | g.83407131T>C | CA367930216 | SEMA3E | c.599A>G (p.His200Arg) c.779A>G (p.His260Arg) n.764A>G | |
7 | g.83407131T>G | CA367930217 | SEMA3E | c.599A>C (p.His200Pro) c.779A>C (p.His260Pro) n.764A>C | |
7 | g.83407132G>A | CA367930218 | SEMA3E | c.598C>T (p.His200Tyr) c.778C>T (p.His260Tyr) n.763C>T | |
7 | g.83407132G>C | CA367930219 | SEMA3E | c.598C>G (p.His200Asp) c.778C>G (p.His260Asp) n.763C>G | gnomAD v4 |
7 | g.83407132G>T | CA367930220 | SEMA3E | c.598C>A (p.His200Asn) c.778C>A (p.His260Asn) n.763C>A | gnomAD v4 |
7 | g.83407133A>C | CA456135731 | SEMA3E | c.597T>G (p.Ala199=) c.777T>G (p.Ala259=) n.762T>G | |
7 | g.83407133A>G | CA456135732 | SEMA3E | c.597T>C (p.Ala199=) c.777T>C (p.Ala259=) n.762T>C | |
7 | g.83407133A>T | CA456135734 | SEMA3E | c.597T>A (p.Ala199=) c.777T>A (p.Ala259=) n.762T>A | |
7 | g.83407134G>A | CA367930221 | SEMA3E | c.596C>T (p.Ala199Val) c.776C>T (p.Ala259Val) n.761C>T | gnomAD v4 |
7 | g.83407134G>C | CA367930222 | SEMA3E | c.596C>G (p.Ala199Gly) c.776C>G (p.Ala259Gly) n.761C>G | |
7 | g.83407134G>T | CA367930223 | SEMA3E | c.596C>A (p.Ala199Asp) c.776C>A (p.Ala259Asp) n.761C>A |