18 | g.31326509del | CA2576479367 | DSG1 | c.49-72del (n.49-72del)
| |
18 | g.31326508A= | CA2293766629 | DSG1 | c.49-73A= (n.49-73A=)
| |
18 | g.31326508A>C | CA297689026 | DSG1 | c.49-73A>C (n.49-73A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326509A>G | CA2641395007 | DSG1 | c.49-72A>G (n.49-72A>G)
| gnomAD v4 |
18 | g.31326510G>A | CA2641395008 | DSG1 | c.49-71G>A (n.49-71G>A)
| gnomAD v4 |
18 | g.31326511T>C | CA2641395009 | DSG1 | c.49-70T>C (n.49-70T>C)
| gnomAD v4 |
18 | g.31326512A>G | CA2641395010 | DSG1 | c.49-69A>G (n.49-69A>G)
| gnomAD v4 |
18 | g.31326513A= | CA2293766630 | DSG1 | c.49-68A= (n.49-68A=)
| |
18 | g.31326513A>G | CA629145850 | DSG1 | c.49-68A>G (n.49-68A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326514C>A | CA2641395011 | DSG1 | c.49-67C>A (n.49-67C>A)
| gnomAD v4 |
18 | g.31326514C= | CA2293766631 | DSG1 | c.49-67C= (n.49-67C=)
| |
18 | g.31326514C>T | CA988897874 | DSG1 | c.49-67C>T (n.49-67C>T)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326515T>C | CA297689033 | DSG1 | c.49-66T>C (n.49-66T>C)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326515T= | CA2293766632 | DSG1 | c.49-66T= (n.49-66T=)
| |
18 | g.31326516G>T | CA2641395013 | DSG1 | c.49-65G>T (n.49-65G>T)
| gnomAD v4 |
18 | g.31326517del | CA2641395012 | DSG1 | c.49-64del (n.49-64del)
| gnomAD v4 |
18 | g.31326517G>A | CA778435723 | DSG1 | c.49-64G>A (n.49-64G>A)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326517G= | CA2293766633 | DSG1 | c.49-64G= (n.49-64G=)
| |
18 | g.31326517G>T | CA2641395014 | DSG1 | c.49-64G>T (n.49-64G>T)
| gnomAD v4 |
18 | g.31326518A= | CA2293766634 | DSG1 | c.49-63A= (n.49-63A=)
| |
18 | g.31326518A>G | CA297689041 | DSG1 | c.49-63A>G (n.49-63A>G)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326519T>A | CA778435725 | DSG1 | c.49-62T>A (n.49-62T>A)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326519T>C | CA2641395015 | DSG1 | c.49-62T>C (n.49-62T>C)
| gnomAD v4 |
18 | g.31326519T>G | CA2576479369 | DSG1 | c.49-62T>G (n.49-62T>G)
| |
18 | g.31326519T= | CA2293766635 | DSG1 | c.49-62T= (n.49-62T=)
| |
18 | g.31326520A= | CA2293766636 | DSG1 | c.49-61A= (n.49-61A=)
| |
18 | g.31326520A>T | CA778435726 | DSG1 | c.49-61A>T (n.49-61A>T)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326521A>G | CA2641395016 | DSG1 | c.49-60A>G (n.49-60A>G)
| gnomAD v4 |
18 | g.31326522T>C | CA297689046 | DSG1 | c.49-59T>C (n.49-59T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326522T>G | CA2641395017 | DSG1 | c.49-59T>G (n.49-59T>G)
| gnomAD v4 |
18 | g.31326522T= | CA2293766637 | DSG1 | c.49-59T= (n.49-59T=)
| |
18 | g.31326523A>G | CA2641395018 | DSG1 | c.49-58A>G (n.49-58A>G)
| gnomAD v4 |
18 | g.31326532A>T | CA2576479370 | DSG1 | c.49-49A>T (n.49-49A>T)
| gnomAD v4 |
18 | g.31326533A= | CA2293766638 | DSG1 | c.49-48A= (n.49-48A=)
| |
18 | g.31326533A>C | CA8925735 | DSG1 | c.49-48A>C (n.49-48A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326533A>G | CA2641395019 | DSG1 | c.49-48A>G (n.49-48A>G)
| gnomAD v4 |
18 | g.31326534A= | CA2293766639 | DSG1 | c.49-47A= (n.49-47A=)
| |
18 | g.31326534A>C | CA8925736 | DSG1 | c.49-47A>C (n.49-47A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326534A>G | CA2641395020 | DSG1 | c.49-47A>G (n.49-47A>G)
| gnomAD v4 |
18 | g.31326534A>T | CA2641395021 | DSG1 | c.49-47A>T (n.49-47A>T)
| gnomAD v4 |
18 | g.31326535G>A | CA8925737 | DSG1 | c.49-46G>A (n.49-46G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326535G>C | CA2576479371 | DSG1 | c.49-46G>C (n.49-46G>C)
| |
18 | g.31326535G= | CA2293766640 | DSG1 | c.49-46G= (n.49-46G=)
| |
18 | g.31326535G>T | CA297689057 | DSG1 | c.49-46G>T (n.49-46G>T)
| dbSNP |
18 | g.31326536C>A | CA2576479372 | DSG1 | c.49-45C>A (n.49-45C>A)
| gnomAD v4 |
18 | g.31326536C= | CA2293766641 | DSG1 | c.49-45C= (n.49-45C=)
| |
18 | g.31326536C>G | CA2293766642 | DSG1 | c.49-45C>G (n.49-45C>G)
| dbSNP gnomAD v4 |
18 | g.31326536C>T | CA2641395022 | DSG1 | c.49-45C>T (n.49-45C>T)
| gnomAD v4 |
18 | g.31326537A= | CA2293766643 | DSG1 | c.49-44A= (n.49-44A=)
| |
18 | g.31326537A>G | CA8925738 | DSG1 | c.49-44A>G (n.49-44A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326538T>G | CA2641395023 | DSG1 | c.49-43T>G (n.49-43T>G)
| gnomAD v4 |
18 | g.31326540T>A | CA2641395024 | DSG1 | c.49-41T>A (n.49-41T>A)
| gnomAD v4 |
18 | g.31326540T>C | CA629145855 | DSG1 | c.49-41T>C (n.49-41T>C)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326540T= | CA2293766644 | DSG1 | c.49-41T= (n.49-41T=)
| |
18 | g.31326541A>T | CA2542925952 | DSG1 | c.49-40A>T (n.49-40A>T)
| |
18 | g.31326542A= | CA2293766645 | DSG1 | c.49-39A= (n.49-39A=)
| |
18 | g.31326542A>G | CA2293766646 | DSG1 | c.49-39A>G (n.49-39A>G)
| dbSNP |
18 | g.31326542A>T | CA2570014242 | DSG1 | c.49-39A>T (n.49-39A>T)
| |
18 | g.31326544T>C | CA2641395025 | DSG1 | c.49-37T>C (n.49-37T>C)
| gnomAD v4 |
18 | g.31326544_31326545delinsTA | CA2293766647 | DSG1 | c.49-37_49-36delinsTA (n.49-37_49-36delinsTA)
| |
18 | g.31326544_31326545insG | CA2554560371 | DSG1 | c.49-37_49-36insG (n.49-37_49-36insG)
| |
18 | g.31326545A>T | CA2641395027 | DSG1 | c.49-36A>T (n.49-36A>T)
| gnomAD v4 |
18 | g.31326550dup | CA2641395026 | DSG1 | c.49-31dup (n.49-31dup)
| gnomAD v4 |
18 | g.31326550del | CA988897892 | DSG1 | c.49-31del (n.49-31del)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326546_31326547insTTTATTC | CA2546870190 | DSG1 | c.49-35_49-34insTTTATTC (n.49-35_49-34insTTTATTC)
| |
18 | g.31326547A= | CA2293766648 | DSG1 | c.49-34A= (n.49-34A=)
| |
18 | g.31326547A>G | CA8925739 | DSG1 | c.49-34A>G (n.49-34A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326547A>T | CA2641395028 | DSG1 | c.49-34A>T (n.49-34A>T)
| gnomAD v4 |
18 | g.31326548A= | CA2293766649 | DSG1 | c.49-33A= (n.49-33A=)
| |
18 | g.31326548A>C | CA629145856 | DSG1 | c.49-33A>C (n.49-33A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326548A>G | CA2515814989 | DSG1 | c.49-33A>G (n.49-33A>G)
| |
18 | g.31326549A>G | CA2576479373 | DSG1 | c.49-32A>G (n.49-32A>G)
| |
18 | g.31326550A= | CA2293766650 | DSG1 | c.49-31A= (n.49-31A=)
| |
18 | g.31326550A>G | CA629453234 | DSG1 | c.49-31A>G (n.49-31A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326550A>T | CA2576479374 | DSG1 | c.49-31A>T (n.49-31A>T)
| gnomAD v4 |
18 | g.31326551T>A | CA2576479375 | DSG1 | c.49-30T>A (n.49-30T>A)
| |
18 | g.31326551T>C | CA2641395030 | DSG1 | c.49-30T>C (n.49-30T>C)
| gnomAD v4 |
18 | g.31326553_31326556del | CA2641395029 | DSG1 | c.49-28_49-25del (n.49-28_49-25del)
| gnomAD v4 |
18 | g.31326552A>G | CA2641395031 | DSG1 | c.49-29A>G (n.49-29A>G)
| gnomAD v4 |
18 | g.31326552A>T | CA2591673930 | DSG1 | c.49-29A>T (n.49-29A>T)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326553A= | CA2293766651 | DSG1 | c.49-28A= (n.49-28A=)
| |
18 | g.31326553A>G | CA629453235 | DSG1 | c.49-28A>G (n.49-28A>G)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326554del | CA2641395032 | DSG1 | c.49-27del (n.49-27del)
| gnomAD v4 |
18 | g.31326554C>A | CA2641395033 | DSG1 | c.49-27C>A (n.49-27C>A)
| gnomAD v4 |
18 | g.31326554C>T | CA2641395034 | DSG1 | c.49-27C>T (n.49-27C>T)
| gnomAD v4 |
18 | g.31326555T>C | CA2641395035 | DSG1 | c.49-26T>C (n.49-26T>C)
| gnomAD v4 |
18 | g.31326557G>A | CA2293766652 | DSG1 | c.49-24G>A (n.49-24G>A)
| dbSNP |
18 | g.31326557G= | CA2293766653 | DSG1 | c.49-24G= (n.49-24G=)
| |
18 | g.31326557G>T | CA297689098 | DSG1 | c.49-24G>T (n.49-24G>T)
| dbSNP gnomAD v4 |
18 | g.31326559G>A | CA2576479376 | DSG1 | c.49-22G>A (n.49-22G>A)
| gnomAD v4 |
18 | g.31326560T>C | CA629453236 | DSG1 | c.49-21T>C (n.49-21T>C)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326560T= | CA2293766654 | DSG1 | c.49-21T= (n.49-21T=)
| |
18 | g.31326561G>A | CA629453237 | DSG1 | c.49-20G>A (n.49-20G>A)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326561G= | CA2293766655 | DSG1 | c.49-20G= (n.49-20G=)
| |
18 | g.31326561G>T | CA2641395036 | DSG1 | c.49-20G>T (n.49-20G>T)
| gnomAD v4 |
18 | g.31326561_31326569delinsGATTATCTT | CA2293766656 | DSG1 | c.49-20_49-12delinsGATTATCTT (n.49-20_49-12delinsGATTATCTT)
| |
18 | g.31326562A= | CA2293766658 | DSG1 | c.49-19A= (n.49-19A=)
| |
18 | g.31326562A>C | CA988897897 | DSG1 | c.49-19A>C (n.49-19A>C)
| dbSNP |
18 | g.31326565_31326572del | CA2293766657 | DSG1 | c.49-16_49-9del (n.49-16_49-9del)
| dbSNP gnomAD v4 |
18 | g.31326563T>C | CA2641395037 | DSG1 | c.49-18T>C (n.49-18T>C)
| gnomAD v4 |
18 | g.31326564T>C | CA2641395038 | DSG1 | c.49-17T>C (n.49-17T>C)
| gnomAD v4 |
18 | g.31326566T>C | CA2641395039 | DSG1 | c.49-15T>C (n.49-15T>C)
| gnomAD v4 |
18 | g.31326566T>G | CA2576479377 | DSG1 | c.49-15T>G (n.49-15T>G)
| |
18 | g.31326567C>A | CA2641395040 | DSG1 | c.49-14C>A (n.49-14C>A)
| gnomAD v4 |
18 | g.31326568T>G | CA629453238 | DSG1 | c.49-13T>G (n.49-13T>G)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326568T= | CA2293766659 | DSG1 | c.49-13T= (n.49-13T=)
| |
18 | g.31326569T>G | CA2641395041 | DSG1 | c.49-12T>G (n.49-12T>G)
| gnomAD v4 |
18 | g.31326570_31326571delinsAT | CA2293766660 | DSG1 | c.49-11_49-10delinsAT (n.49-11_49-10delinsAT)
| |
18 | g.31326571T>A | CA2293766662 | DSG1 | c.49-10T>A (n.49-10T>A)
| dbSNP |
18 | g.31326571T= | CA2293766661 | DSG1 | c.49-10T= (n.49-10T=)
| |
18 | g.31326576del | CA8925740 | DSG1 | c.49-5del (n.49-5del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31326572T>A | CA297689105 | DSG1 | c.49-9T>A (n.49-9T>A)
| dbSNP gnomAD v4 |
18 | g.31326572T= | CA2293766663 | DSG1 | c.49-9T= (n.49-9T=)
| |
18 | g.31326573T>C | CA2641395042 | DSG1 | c.49-8T>C (n.49-8T>C)
| gnomAD v4 |
18 | g.31326573T>G | CA629453239 | DSG1 | c.49-8T>G (n.49-8T>G)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326573T= | CA2293766664 | DSG1 | c.49-8T= (n.49-8T=)
| |
18 | g.31326576T>C | CA2641395043 | DSG1 | c.49-5T>C (n.49-5T>C)
| gnomAD v4 |
18 | g.31326577del | CA2641395044 | DSG1 | c.49-4del (n.49-4del)
| gnomAD v4 |
18 | g.31326577A>T | CA2641395045 | DSG1 | c.49-4A>T (n.49-4A>T)
| gnomAD v4 |
18 | g.31326578C>A | CA2641395046 | DSG1 | c.49-3C>A (n.49-3C>A)
| gnomAD v4 |
18 | g.31326578C= | CA2293766665 | DSG1 | c.49-3C= (n.49-3C=)
| |
18 | g.31326578C>G | CA2641395047 | DSG1 | c.49-3C>G (n.49-3C>G)
| gnomAD v4 |
18 | g.31326578C>T | CA8925741 | DSG1 | c.49-3C>T (n.49-3C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31326579A>C | CA402127393 | DSG1 | c.49-2A>C (n.49-2A>C)
| |
18 | g.31326579A>G | CA402127395 | DSG1 | c.49-2A>G (n.49-2A>G)
| gnomAD v4 |
18 | g.31326579A>T | CA402127394 | DSG1 | c.49-2A>T (n.49-2A>T)
| gnomAD v4 |
18 | g.31326580G>A | CA145283 | DSG1 | c.49-1G>A (n.49-1G>A)
| ClinVar dbSNP |
18 | g.31326580G>C | CA402127396 | DSG1 | c.49-1G>C (n.49-1G>C)
| |
18 | g.31326580G= | CA2293766666 | DSG1 | c.49-1G= (n.49-1G=)
| |
18 | g.31326580G>T | CA402127397 | DSG1 | c.49-1G>T (n.49-1G>T)
| |
18 | g.31326581G>A | CA8925742 | DSG1 | c.49G>A (p.Val17Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.31326581G>C | CA402127398 | DSG1 | c.49G>C (p.Val17Leu)
| |
18 | g.31326581G= | CA2293766667 | DSG1 | c.49G= (p.Val17=)
| |
18 | g.31326581G>T | CA402127399 | DSG1 | c.49G>T (p.Val17Leu)
| gnomAD v4 |
18 | g.31326582T>A | CA402127400 | DSG1 | c.50T>A (p.Val17Glu)
| |
18 | g.31326582T>C | CA402127401 | DSG1 | c.50T>C (p.Val17Ala)
| ClinVar gnomAD v4 |
18 | g.31326582T>G | CA402127402 | DSG1 | c.50T>G (p.Val17Gly)
| |
18 | g.31326583G>A | CA503593296 | DSG1 | c.51G>A (p.Val17=)
| dbSNP |
18 | g.31326583G>C | CA503593297 | DSG1 | c.51G>C (p.Val17=)
| |
18 | g.31326583G= | CA2293766668 | DSG1 | c.51G= (p.Val17=)
| |
18 | g.31326583G>T | CA503593298 | DSG1 | c.51G>T (p.Val17=)
| |
18 | g.31326584G>A | CA402127403 | DSG1 | c.52G>A (p.Val18Met)
| |
18 | g.31326584G>C | CA402127404 | DSG1 | c.52G>C (p.Val18Leu)
| |
18 | g.31326584G>T | CA402127405 | DSG1 | c.52G>T (p.Val18Leu)
| gnomAD v4 |
18 | g.31326585T>A | CA402127406 | DSG1 | c.53T>A (p.Val18Glu)
| gnomAD v4 |
18 | g.31326585T>C | CA402127408 | DSG1 | c.53T>C (p.Val18Ala)
| |
18 | g.31326585T>G | CA402127407 | DSG1 | c.53T>G (p.Val18Gly)
| |
18 | g.31326586G>A | CA503593299 | DSG1 | c.54G>A (p.Val18=)
| |
18 | g.31326586G>C | CA503593301 | DSG1 | c.54G>C (p.Val18=)
| |
18 | g.31326586G>T | CA503593300 | DSG1 | c.54G>T (p.Val18=)
| |
18 | g.31326587del | CA2641395048 | DSG1 | c.55del (p.Val19Ter)
| gnomAD v4 |
18 | g.31326587G>A | CA402127409 | DSG1 | c.55G>A (p.Val19Ile)
| gnomAD v4 |
18 | g.31326587G>C | CA402127410 | DSG1 | c.55G>C (p.Val19Leu)
| |
18 | g.31326587G>T | CA402127411 | DSG1 | c.55G>T (p.Val19Leu)
| |
18 | g.31326588T>A | CA402127412 | DSG1 | c.56T>A (p.Val19Glu)
| |
18 | g.31326588T>C | CA402127413 | DSG1 | c.56T>C (p.Val19Ala)
| |
18 | g.31326588T>G | CA402127414 | DSG1 | c.56T>G (p.Val19Gly)
| |
18 | g.31326589A= | CA2293766669 | DSG1 | c.57A= (p.Val19=)
| |
18 | g.31326589A>C | CA503593302 | DSG1 | c.57A>C (p.Val19=)
| |
18 | g.31326589A>G | CA8925743 | DSG1 | c.57A>G (p.Val19=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31326589A>T | CA503593303 | DSG1 | c.57A>T (p.Val19=)
| |
18 | g.31326590G>A | CA402127415 | DSG1 | c.58G>A (p.Glu20Lys)
| |
18 | g.31326590G>C | CA402127416 | DSG1 | c.58G>C (p.Glu20Gln)
| |
18 | g.31326590G>T | CA402127417 | DSG1 | c.58G>T (p.Glu20Ter)
| |
18 | g.31326591A>C | CA402127419 | DSG1 | c.59A>C (p.Glu20Ala)
| |
18 | g.31326591A>G | CA402127420 | DSG1 | c.59A>G (p.Glu20Gly)
| |
18 | g.31326591A>T | CA402127418 | DSG1 | c.59A>T (p.Glu20Val)
| |
18 | g.31326592A= | CA2293766670 | DSG1 | c.60A= (p.Glu20=)
| |
18 | g.31326592A>C | CA402127421 | DSG1 | c.60A>C (p.Glu20Asp)
| dbSNP |
18 | g.31326592A>G | CA503593304 | DSG1 | c.60A>G (p.Glu20=)
| |
18 | g.31326592A>T | CA402127422 | DSG1 | c.60A>T (p.Glu20Asp)
| |
18 | g.31326593G>A | CA402127423 | DSG1 | c.61G>A (p.Val21Ile)
| |
18 | g.31326593G>C | CA402127424 | DSG1 | c.61G>C (p.Val21Leu)
| |
18 | g.31326593G>T | CA402127425 | DSG1 | c.61G>T (p.Val21Phe)
| |
18 | g.31326594T>A | CA402127426 | DSG1 | c.62T>A (p.Val21Asp)
| COSMIC |
18 | g.31326594T>C | CA402127427 | DSG1 | c.62T>C (p.Val21Ala)
| |
18 | g.31326594T>G | CA402127428 | DSG1 | c.62T>G (p.Val21Gly)
| |
18 | g.31326595T>A | CA503593307 | DSG1 | c.63T>A (p.Val21=)
| |
18 | g.31326595T>C | CA503593306 | DSG1 | c.63T>C (p.Val21=)
| |
18 | g.31326595T>G | CA503593305 | DSG1 | c.63T>G (p.Val21=)
| |
18 | g.31326596A>C | CA402127429 | DSG1 | c.64A>C (p.Asn22His)
| |
18 | g.31326596A>G | CA402127430 | DSG1 | c.64A>G (p.Asn22Asp)
| |
18 | g.31326596A>T | CA402127431 | DSG1 | c.64A>T (p.Asn22Tyr)
| |
18 | g.31326597A>C | CA402127432 | DSG1 | c.65A>C (p.Asn22Thr)
| |
18 | g.31326597A>G | CA402127433 | DSG1 | c.65A>G (p.Asn22Ser)
| |
18 | g.31326597A>T | CA402127434 | DSG1 | c.65A>T (p.Asn22Ile)
| |
18 | g.31326598C>A | CA402127435 | DSG1 | c.66C>A (p.Asn22Lys)
| gnomAD v4 |
18 | g.31326598C>G | CA402127436 | DSG1 | c.66C>G (p.Asn22Lys)
| |
18 | g.31326598C>T | CA503593308 | DSG1 | c.66C>T (p.Asn22=)
| |
18 | g.31326599A= | CA2293766671 | DSG1 | c.67A= (p.Ser23=)
| |
18 | g.31326599A>C | CA402127437 | DSG1 | c.67A>C (p.Ser23Arg)
| |
18 | g.31326599A>G | CA402127438 | DSG1 | c.67A>G (p.Ser23Gly)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.31326599A>T | CA402127439 | DSG1 | c.67A>T (p.Ser23Cys)
| |
18 | g.31326600G>A | CA402127440 | DSG1 | c.68G>A (p.Ser23Asn)
| gnomAD v4 |
18 | g.31326600G>C | CA402127441 | DSG1 | c.68G>C (p.Ser23Thr)
| |
18 | g.31326600G>T | CA402127442 | DSG1 | c.68G>T (p.Ser23Ile)
| |
18 | g.31326601T>A | CA402127443 | DSG1 | c.69T>A (p.Ser23Arg)
| |
18 | g.31326601T>C | CA503593309 | DSG1 | c.69T>C (p.Ser23=)
| gnomAD v4 |
18 | g.31326601T>G | CA402127444 | DSG1 | c.69T>G (p.Ser23Arg)
| |
18 | g.31326602G>A | CA402127445 | DSG1 | c.70G>A (p.Glu24Lys)
| |
18 | g.31326602G>C | CA402127446 | DSG1 | c.70G>C (p.Glu24Gln)
| dbSNP |
18 | g.31326602G= | CA2293766672 | DSG1 | c.70G= (p.Glu24=)
| |
18 | g.31326602G>T | CA402127447 | DSG1 | c.70G>T (p.Glu24Ter)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.31326603A>C | CA402127448 | DSG1 | c.71A>C (p.Glu24Ala)
| |
18 | g.31326603A>G | CA402127449 | DSG1 | c.71A>G (p.Glu24Gly)
| |
18 | g.31326603A>T | CA402127450 | DSG1 | c.71A>T (p.Glu24Val)
| |
18 | g.31326604A>C | CA402127451 | DSG1 | c.72A>C (p.Glu24Asp)
| |
18 | g.31326604A>G | CA503593310 | DSG1 | c.72A>G (p.Glu24=)
| |
18 | g.31326604A>T | CA402127452 | DSG1 | c.72A>T (p.Glu24Asp)
| |
18 | g.31326605T>A | CA402127453 | DSG1 | c.73T>A (p.Phe25Ile)
| |
18 | g.31326605T>C | CA402127454 | DSG1 | c.73T>C (p.Phe25Leu)
| |
18 | g.31326605T>G | CA402127455 | DSG1 | c.73T>G (p.Phe25Val)
| gnomAD v4 |
18 | g.31326606T>A | CA402127456 | DSG1 | c.74T>A (p.Phe25Tyr)
| |
18 | g.31326606T>C | CA402127457 | DSG1 | c.74T>C (p.Phe25Ser)
| gnomAD v4 |
18 | g.31326606T>G | CA402127458 | DSG1 | c.74T>G (p.Phe25Cys)
| |
18 | g.31326607C>A | CA402127459 | DSG1 | c.75C>A (p.Phe25Leu)
| gnomAD v4 |
18 | g.31326607C= | CA2293766673 | DSG1 | c.75C= (p.Phe25=)
| |
18 | g.31326607C>G | CA402127460 | DSG1 | c.75C>G (p.Phe25Leu)
| dbSNP |
18 | g.31326607C>T | CA503593311 | DSG1 | c.75C>T (p.Phe25=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31326608C>A | CA503593312 | DSG1 | c.76C>A (p.Arg26=)
| gnomAD v4 |
18 | g.31326608C= | CA2293766674 | DSG1 | c.76C= (p.Arg26=)
| |
18 | g.31326608C>G | CA402127461 | DSG1 | c.76C>G (p.Arg26Gly)
| |
18 | g.31326608C>T | CA145276 | DSG1 | c.76C>T (p.Arg26Ter)
| ClinVar dbSNP gnomAD v4 |